| Year |
Citation |
Score |
| 2022 |
Ruaud L, Roux N, Boutaud L, Bessières B, Ageorges F, Achaiaa A, Bole C, Nitschke P, Masson C, Vekemans M, Verloes A, Attie-Bitach T. Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature. Birth Defects Research. PMID 35426486 DOI: 10.1002/bdr2.2011 |
0.582 |
|
| 2021 |
El Mouatani A, Van Winckel G, Zaafrane-Khachnaoui K, Whalen S, Achaiaa A, Kaltenbach S, Superti-Furga A, Vekemans M, Fodstad H, Giuliano F, Attie-Bitach T. Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly. American Journal of Medical Genetics. Part A. PMID 34296525 DOI: 10.1002/ajmg.a.62426 |
0.542 |
|
| 2019 |
Egloff M, Hervé B, Quibel T, Jaillard S, Bouar GL, Uguen K, Saliou A-, Valduga M, Perdriolle E, Coutton C, Coston A-, Coussement A, Anselem O, Missirian C, Bretelle F, ... ... Vekemans M, et al. Diagnostic Yield of Chromosomal Microarray Analysis in Fetuses With Isolated Increased Nuchal Translucency: A French Multicenter Study Obstetrical & Gynecological Survey. 74: 267-268. DOI: 10.1097/01.Ogx.0000557826.01903.Cb |
0.312 |
|
| 2018 |
Beaufrère A, Bonnière M, Tantau J, Roth P, Schaerer E, Brioude F, Netchine I, Bessières B, Gelot A, Vekemans M, Razavi F, Heron D, Attié-Bitach T. Corpus Callosum Abnormalities and Short Femurs in Beckwith-Wiedemann Syndrome: A Report of Two Fetal Cases. Fetal and Pediatric Pathology. 1-7. PMID 30595068 DOI: 10.1080/15513815.2018.1520942 |
0.616 |
|
| 2018 |
Beaufrère A, Bessières B, Bonnière M, Driessen M, Alfano C, Couderc T, Thiry M, Thelen N, Lecuit M, Attié-Bitach T, Vekemans M, Ville Y, Nguyen L, Leruez-Ville M, Encha-Razavi F. A clinical and histopathological study of malformations observed in fetuses infected by the Zika virus. Brain Pathology (Zurich, Switzerland). PMID 30020561 DOI: 10.1111/Bpa.12644 |
0.527 |
|
| 2018 |
Alby C, Boutaud L, Bessières B, Serre V, Rio M, Cormier-Daire V, de Oliveira J, Ichkou A, Mouthon L, Gordon CT, Bonnière M, Mechler C, Nitschke P, Bole C, Lyonnet S, ... ... Vekemans M, et al. Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies. American Journal of Medical Genetics. Part A. 176: 1091-1098. PMID 29681083 DOI: 10.1002/Ajmg.A.38684 |
0.663 |
|
| 2018 |
Egloff M, Nguyen LS, Siquier-Pernet K, Cormier-Daire V, Baujat G, Attié-Bitach T, Bole-Feysot C, Nitschke P, Vekemans M, Colleaux L, Malan V. Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance. European Journal of Human Genetics : Ejhg. PMID 29483668 DOI: 10.1038/S41431-018-0124-4 |
0.622 |
|
| 2018 |
Chartier S, Alby C, Boutaud L, Thomas S, Elkhartoufi N, Martinovic J, Kaplan J, Benachi A, Lacombe D, Sonigo P, Drunat S, Vekemans M, Agenor J, Encha Razavi F, Attie-Bitach T. A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern. Birth Defects Research. PMID 29356416 DOI: 10.1002/Bdr2.1204 |
0.618 |
|
| 2018 |
Bacrot S, Mechler C, Talhi N, Martin-Coignard D, Roth P, Michot C, Ichkou A, Alibeu O, Nitschke P, Thomas S, Vekemans M, Razavi F, Boutaud L, Attie-Bitach T. Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1. Birth Defects Research. PMID 29316359 DOI: 10.1002/Bdr2.1191 |
0.649 |
|
| 2018 |
Egloff M, Hervé B, Quibel T, Jaillard S, Bouar GL, Uguen K, Saliou A‐, Valduga M, Perdriolle E, Coutton C, Coston A‐, Coussement A, Anselem O, Missirian C, Bretelle F, ... ... Vekemans M, et al. Diagnostic yield of chromosomal microarray analysis in fetuses with isolated increased nuchal translucency: a French multicenter study Ultrasound in Obstetrics & Gynecology. 52: 715-721. PMID 29027723 DOI: 10.1002/Uog.18928 |
0.36 |
|
| 2017 |
Alby C, Boutaud L, Bonnière M, Collardeau-Frachon S, Guibaud L, Lopez E, Bruel AL, Aral B, Sonigo P, Roth P, Vibert-Guigue C, Castaigne V, Carbonne B, Joyé N, Faivre L, ... ... Vekemans M, et al. In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses. Birth Defects Research. PMID 29193896 DOI: 10.1002/Bdr2.1154 |
0.636 |
|
| 2017 |
Darouich S, Boutaud L, Bessières B, Bonnière M, Martinovic J, Mechler C, Alby C, Bernard JP, Roth P, Ville Y, Malan V, Vekemans M, Attié-Bitach T, Encha-Razavi F. Fetal Cerebral Ventricular Dilatation: Etiopathogenic Study of 130 Observations. Birth Defects Research. PMID 28758373 DOI: 10.1002/Bdr2.1093 |
0.561 |
|
| 2017 |
Satgé D, Nishi M, Sirvent N, Vekemans M, Chenard MP, Barnes A. A tumor profile in Patau syndrome (trisomy 13). American Journal of Medical Genetics. Part A. PMID 28544599 DOI: 10.1002/Ajmg.A.38294 |
0.34 |
|
| 2017 |
Maurin ML, Arfeuille C, Sonigo P, Rondeau S, Vekemans M, Turleau C, Ville Y, Malan V. Large Duplications Can Be Benign Copy Number Variants: A Case of a 3.6-Mb Xq21.33 Duplication. Cytogenetic and Genome Research. 151: 115-118. PMID 28273668 DOI: 10.1159/000460278 |
0.43 |
|
| 2017 |
Attié-Bitach T, Thomas S, Vekemans M. Apport du séquençage haut débit dans la compréhension des formes sévères de ciliopathies Morphologie. 101: 252. DOI: 10.1016/J.Morpho.2017.07.031 |
0.586 |
|
| 2016 |
Satgé D, Nishi M, Sirvent N, Vekemans M. A tumor profile in Edwards syndrome (trisomy 18). American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. PMID 27474103 DOI: 10.1002/Ajmg.C.31511 |
0.326 |
|
| 2016 |
Wells C, Spaggiari E, Malan V, Stirnemann JJ, Attie-Bitach T, Ville Y, Vekemans M, Bessieres B, Romana S. First fetal case of the 8q24.3 contiguous genes syndrome. American Journal of Medical Genetics. Part A. 170: 239-42. PMID 26437074 DOI: 10.1002/Ajmg.A.37411 |
0.65 |
|
| 2016 |
Leroy C, Jacquemont ML, Doray B, Lamblin D, Cormier-Daire V, Philippe A, Nusbaum S, Patrat C, Steffann J, Colleaux L, Vekemans M, Romana S, Turleau C, Malan V. Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy. Clinical Genetics. 89: 68-73. PMID 25677961 DOI: 10.1111/Cge.12567 |
0.455 |
|
| 2016 |
Xu P, Thomas S, Dellinger A, Etchevers H, Vekemans M, Gilbert JR, Speer MC. Transcriptome analysis of genes involved in neural tube closure during human embryonic development using Long-SAGE F1000research. 5. DOI: 10.7490/F1000Research.1111340.1 |
0.758 |
|
| 2016 |
Thomas S, Thomas M, Wincker P, Babarit C, Xu P, Speer MC, Munnich A, Lyonnet S, Vekemans M, Etchevers H. Isolation and transcriptional profiling of embryonic human neural crest cells F1000research. 5. DOI: 10.7490/F1000Research.1111339.1 |
0.733 |
|
| 2016 |
Goudefroye G, Guirchon J, Ozilou C, Morichon-Delvallez N, Munnich A, Vekemans M, Attie-Bitach T, Etchevers H. Chromosomal, molecular and morphological analysis of a human embryo with homogeneous trisomy of chromosome 8 F1000research. 5. DOI: 10.7490/F1000Research.1111338.1 |
0.785 |
|
| 2016 |
Sanlaville D, Etchevers H, Clément-Ziza M, Goudefroye G, Audollent S, Detrait E, Attié-Bitach T, Vekemans M. Comparative expression patterns of CHD7 , TBX1, FOXG1b ( BF1 ) , DLX5 and FGF10 during human craniofacial development F1000research. 5. DOI: 10.7490/F1000Research.1111318.1 |
0.773 |
|
| 2016 |
Wells C, Spaggiari E, Malan V, Stirnemann JJ, Attie-Bitach T, Ville Y, Vekemans M, Bessieres B, Romana S. First fetal case of the 8q24.3 contiguous genes syndrome American Journal of Medical Genetics, Part A. 170: 239-242. DOI: 10.1002/ajmg.a.37411 |
0.306 |
|
| 2015 |
Aalimi U, Spiegel E, Chervinsky I, Attie-Bitach T, Elkhartoufi N, Saunier S, Vekemans M, Abulil-Zuabi U, Chemke M, Spiegel R, Salev S. [HIGH INCIDENCE AND BROAD GENETIC VARIABILITY OF MECKEL-GRUBER SYNDROME IN THE ARAB POPULATION RESIDING IN NORTH-EAST ISRAEL]. Harefuah. 154: 632-6, 676. PMID 26742224 |
0.593 |
|
| 2015 |
Malan V, Lapierre JM, Egloff M, Goidin D, Beaujard MP, Maurin ML, Attié-Bitach T, Bessières B, Bernard JP, Roth P, Stirnemann J, Salomon L, Romana S, Vekemans M, Ville Y, et al. A French Approach to Test Fetuses with Ultrasound Abnormalities Using a Customized Microarray as First-Tier Genetic Test. Cytogenetic and Genome Research. 147: 103-10. PMID 26735902 DOI: 10.1159/000442904 |
0.56 |
|
| 2015 |
Alby C, Malan V, Boutaud L, Marangoni MA, Bessières B, Bonniere M, Ichkou A, Elkhartoufi N, Bahi-Buisson N, Sonigo P, Millischer AE, Thomas S, Ville Y, Vekemans M, Encha-Razavi F, et al. Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation. Birth Defects Research. Part a, Clinical and Molecular Teratology. PMID 26663670 DOI: 10.1002/Bdra.23472 |
0.572 |
|
| 2015 |
Alby C, Piquand K, Huber C, Megarbané A, Ichkou A, Legendre M, Pelluard F, Encha-Ravazi F, Abi-Tayeh G, Bessières B, El Chehadeh-Djebbar S, Laurent N, Faivre L, Sztriha L, Zombor M, ... ... Vekemans M, et al. Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome. American Journal of Human Genetics. 97: 311-8. PMID 26166481 DOI: 10.1016/J.Ajhg.2015.06.003 |
0.646 |
|
| 2015 |
Nizon M, Andrieux J, Rooryck C, de Blois MC, Bourel-Ponchel E, Bourgois B, Boute O, David A, Delobel B, Duban-Bedu B, Giuliano F, Goldenberg A, Grotto S, Héron D, Karmous-Benailly H, ... ... Vekemans M, et al. Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature. American Journal of Medical Genetics. Part A. 167: 111-22. PMID 25425167 DOI: 10.1002/Ajmg.A.36807 |
0.391 |
|
| 2015 |
Thomas S, Cantagrel V, Mariani L, Serre V, Lee JE, Elkhartoufi N, de Lonlay P, Desguerre I, Munnich A, Boddaert N, Lyonnet S, Vekemans M, Lisgo SN, Caspary T, Gleeson J, et al. Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity. European Journal of Human Genetics : Ejhg. 23: 621-7. PMID 25138100 DOI: 10.1038/Ejhg.2014.156 |
0.598 |
|
| 2015 |
Démurger F, Ichkou A, Mougou-Zerelli S, Le Merrer M, Goudefroye G, Delezoide AL, Quélin C, Manouvrier S, Baujat G, Fradin M, Pasquier L, Megarbané A, Faivre L, Baumann C, Nampoothiri S, ... ... Vekemans M, et al. New insights into genotype-phenotype correlation for GLI3 mutations. European Journal of Human Genetics : Ejhg. 23: 92-102. PMID 24736735 DOI: 10.1038/Ejhg.2014.62 |
0.645 |
|
| 2015 |
Attie-Bitach T, Alby C, Boutaud L, Malan V, Bahi-Buisson N, Ichkou A, Ville Y, Bole-Feysot C, Nitschke P, Thomas S, Razavi F, Vekemans M. Du séquençage haut débit au phénotype : intérêt majeur de l’examen fœtopathologique dans l’exploration des anomalies du corps calleux Morphologie. 99: 165. DOI: 10.1016/J.Morpho.2015.09.036 |
0.538 |
|
| 2015 |
Alby C, Piquand K, Huber C, Megarbané A, Ichkou A, Legendre M, Pelluard F, Encha-Ravazi F, Abi-Tayeh G, Bessières B, Chehadeh-Djebbar SE, Laurent N, Faivre L, Sztriha L, Zombor M, ... ... Vekemans M, et al. Erratum: Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome (American Journal of Human Genetics (2015) 97 (311-318)) American Journal of Human Genetics. 97: 1923. DOI: 10.1016/J.Ajhg.2015.07.011 |
0.635 |
|
| 2014 |
Egloff M, Encha-Razavi F, Garel C, Bonnière-Darcy M, Millischer AE, Lapierre JM, Fontaine S, de Blois MC, Vekemans M, Turleau C, Ville Y, Malan V. 17q21.31 microdeletion: brain anomalies leading to prenatal diagnosis. Cytogenetic and Genome Research. 144: 178-82. PMID 25402493 DOI: 10.1159/000369117 |
0.349 |
|
| 2014 |
Thauvin-Robinet C, Lee JS, Lopez E, Herranz-Pérez V, Shida T, Franco B, Jego L, Ye F, Pasquier L, Loget P, Gigot N, Aral B, Lopes CA, St-Onge J, Bruel AL, ... ... Vekemans M, et al. The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. Nature Genetics. 46: 905-11. PMID 24997988 DOI: 10.1038/Ng.3031 |
0.397 |
|
| 2014 |
Lehalle D, Gordon CT, Oufadem M, Goudefroye G, Boutaud L, Alessandri JL, Baena N, Baujat G, Baumann C, Boute-Benejean O, Caumes R, Decaestecker C, Gaillard D, Goldenberg A, Gonzales M, ... ... Vekemans M, et al. Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients. Human Mutation. 35: 478-85. PMID 24470203 DOI: 10.1002/Humu.22517 |
0.649 |
|
| 2014 |
Thomas S, Wright KJ, Le Corre S, Micalizzi A, Romani M, Abhyankar A, Saada J, Perrault I, Amiel J, Litzler J, Filhol E, Elkhartoufi N, Kwong M, Casanova JL, Boddaert N, ... ... Vekemans M, et al. A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium. Human Mutation. 35: 137-46. PMID 24166846 DOI: 10.1002/Humu.22470 |
0.42 |
|
| 2013 |
Essaoui M, Nizon M, Beaujard MP, Carrier A, Tantau J, de Blois MC, Fontaine S, Michot C, Amiel J, Bernard JP, Attié-Bitach T, Vekemans M, Turleau C, Ville Y, Malan V. Monozygotic twins discordant for 18q21.2qter deletion detected by array CGH in amniotic fluid. European Journal of Medical Genetics. 56: 502-5. PMID 23832107 DOI: 10.1016/J.Ejmg.2013.06.007 |
0.345 |
|
| 2013 |
Alby C, Bessieres B, Bieth E, Attie-Bitach T, Fermont L, Citony I, Razavi F, Vekemans M, Escande F, Manouvrier S, Malan V, Amiel J. Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of Holt-Oram and ulnar-mammary syndromes. American Journal of Medical Genetics. Part A. 161: 1797-802. PMID 23713051 DOI: 10.1002/Ajmg.A.36054 |
0.651 |
|
| 2013 |
Rio M, Royer G, Gobin S, de Blois MC, Ozilou C, Bernheim A, Nizon M, Munnich A, Bonnefont JP, Romana S, Vekemans M, Turleau C, Malan V. Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH. Clinical Genetics. 84: 31-6. PMID 23061379 DOI: 10.1111/Cge.12036 |
0.399 |
|
| 2013 |
Thauvin-Robinet C, Thomas S, Sinico M, Aral B, Burglen L, Gigot N, Dollfus H, Rossignol S, Raynaud M, Philippe C, Badens C, Touraine R, Gomes C, Franco B, Lopez E, ... ... Vekemans M, et al. OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment. Clinical Genetics. 84: 86-90. PMID 23036093 DOI: 10.1111/Cge.12013 |
0.315 |
|
| 2012 |
Gordon CT, Petit F, Oufadem M, Decaestecker C, Jourdain AS, Andrieux J, Malan V, Alessandri JL, Baujat G, Baumann C, Boute-Benejean O, Caumes R, Delobel B, Dieterich K, Gaillard D, ... ... Vekemans M, et al. EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia. Journal of Medical Genetics. 49: 737-46. PMID 23188108 DOI: 10.1136/Jmedgenet-2012-101173 |
0.642 |
|
| 2012 |
Putoux A, Nampoothiri S, Laurent N, Cormier-Daire V, Beales PL, Schinzel A, Bartholdi D, Alby C, Thomas S, Elkhartoufi N, Ichkou A, Litzler J, Munnich A, Encha-Razavi F, Kannan R, ... ... Vekemans M, et al. Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome. Journal of Medical Genetics. 49: 713-20. PMID 23125460 DOI: 10.1136/Jmedgenet-2012-101016 |
0.429 |
|
| 2012 |
Legendre M, Gonzales M, Goudefroye G, Bilan F, Parisot P, Perez MJ, Bonnière M, Bessières B, Martinovic J, Delezoide AL, Jossic F, Fallet-Bianco C, Bucourt M, Tantau J, Loget P, ... ... Vekemans M, et al. Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations. Journal of Medical Genetics. 49: 698-707. PMID 23024289 DOI: 10.1136/Jmedgenet-2012-100926 |
0.415 |
|
| 2012 |
Thomas S, Legendre M, Saunier S, Bessières B, Alby C, Bonnière M, Toutain A, Loeuillet L, Szymanska K, Jossic F, Gaillard D, Yacoubi MT, Mougou-Zerelli S, David A, Barthez MA, ... ... Vekemans M, et al. TCTN3 mutations cause Mohr-Majewski syndrome. American Journal of Human Genetics. 91: 372-8. PMID 22883145 DOI: 10.1016/J.Ajhg.2012.06.017 |
0.653 |
|
| 2012 |
Krupp DR, Xu PT, Thomas S, Dellinger A, Etchevers HC, Vekemans M, Gilbert JR, Speer MC, Ashley-Koch AE, Gregory SG. Transcriptome profiling of genes involved in neural tube closure during human embryonic development using long serial analysis of gene expression (long-SAGE). Birth Defects Research. Part a, Clinical and Molecular Teratology. 94: 683-92. PMID 22806986 DOI: 10.1002/Bdra.23040 |
0.769 |
|
| 2012 |
Golzio C, Havis E, Daubas P, Nuel G, Babarit C, Munnich A, Vekemans M, Zaffran S, Lyonnet S, Etchevers HC. ISL1 directly regulates FGF10 transcription during human cardiac outflow formation. Plos One. 7: e30677. PMID 22303449 DOI: 10.1371/Journal.Pone.0030677 |
0.749 |
|
| 2012 |
Van Der Werf CS, Wabbersen TD, Hsiao NH, Paredes J, Etchevers HC, Kroisel PM, Tibboel D, Babarit C, Schreiber RA, Hoffenberg EJ, Vekemans M, Zeder SL, Ceccherini I, Lyonnet S, Ribeiro AS, et al. CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome. Gastroenterology. 142: 453-462.e3. PMID 22155368 DOI: 10.1053/J.Gastro.2011.11.038 |
0.79 |
|
| 2012 |
Robinson A, Escuin S, Doudney K, Vekemans M, Stevenson RE, Greene ND, Copp AJ, Stanier P. Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis. Human Mutation. 33: 440-7. PMID 22095531 DOI: 10.1002/Humu.21662 |
0.4 |
|
| 2012 |
Alby‐Averseng C, Bonniere M, Hyon C, Quenum G, Essaoui M, Sokolov D, Suarez B, Bernard J, Ville Y, Vekemans M, Bitach TA, Razavi F. P17.03: Fetal diagnosis of Miller‐Dieker syndrome revealed by partial corpus callosum agenesis at 20.4 weeks Ultrasound in Obstetrics & Gynecology. 40: 236-237. DOI: 10.1002/Uog.11993 |
0.347 |
|
| 2011 |
De Pontual L, Kettaneh D, Gordon CT, Oufadem M, Boddaert N, Lees M, Balu L, Lachassinne E, Petros A, Mollet J, Wilson LC, Munnich A, Brugière L, Delattre O, Vekemans M, et al. Germline gain-of-function mutations of ALK disrupt central nervous system development Human Mutation. 32: 272-276. PMID 21972109 DOI: 10.1002/Humu.21442 |
0.784 |
|
| 2011 |
Putoux A, Thomas S, Coene KL, Davis EE, Alanay Y, Ogur G, Uz E, Buzas D, Gomes C, Patrier S, Bennett CL, Elkhartoufi N, Frison MH, Rigonnot L, Joyé N, ... ... Vekemans M, et al. KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nature Genetics. 43: 601-6. PMID 21552264 DOI: 10.1038/Ng.826 |
0.428 |
|
| 2011 |
Satgé D, Vekemans M. Down syndrome patients are less likely to develop some (but not all) malignant solid tumours. Clinical Genetics. 79: 289-90; author reply. PMID 21294716 DOI: 10.1111/J.1399-0004.2010.01521.X |
0.338 |
|
| 2011 |
Cognet M, Nougayrede A, Malan V, Callier P, Cretolle C, Faivre L, Genevieve D, Goldenberg A, Heron D, Mercier S, Philip N, Sigaudy S, Verloes A, Sarnacki S, Munnich A, ... Vekemans M, et al. Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia. European Journal of Human Genetics : Ejhg. 19: 602-6. PMID 21224895 DOI: 10.1038/Ejhg.2010.225 |
0.808 |
|
| 2011 |
Cavalcanti DP, Huber C, Sang KH, Baujat G, Collins F, Delezoide AL, Dagoneau N, Le Merrer M, Martinovic J, Mello MF, Vekemans M, Munnich A, Cormier-Daire V. Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum. Journal of Medical Genetics. 48: 88-92. PMID 19648123 DOI: 10.1136/Jmg.2009.069468 |
0.348 |
|
| 2010 |
Putoux A, Mougou-Zerelli S, Thomas S, Elkhartoufi N, Audollent S, Le Merrer M, Lachmeijer A, Sigaudy S, Buenerd A, Fernandez C, Delezoide AL, Gubler MC, Salomon R, Saad A, Cordier MP, ... Vekemans M, et al. BBS10 mutations are common in 'Meckel'-type cystic kidneys. Journal of Medical Genetics. 47: 848-52. PMID 20805367 DOI: 10.1136/Jmg.2010.079392 |
0.644 |
|
| 2010 |
Thomas S, Encha-Razavi F, Devisme L, Etchevers H, Bessieres-Grattagliano B, Goudefroye G, Elkhartoufi N, Pateau E, Ichkou A, Bonnière M, Marcorelle P, Parent P, Manouvrier S, Holder M, Laquerrière A, ... ... Vekemans M, et al. High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy. Human Mutation. 31: 1134-41. PMID 20690116 DOI: 10.1002/Humu.21329 |
0.773 |
|
| 2010 |
Malan V, Rajan D, Thomas S, Shaw AC, Louis Dit Picard H, Layet V, Till M, Van Haeringen A, Mortier G, Nampoothiri S, Pušeljić S, Legeai-Mallet L, Carter NP, Vekemans M, Munnich A, et al. Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a sotos-like or a Marshall-Smith Syndrome American Journal of Human Genetics. 87: 189-198. PMID 20673863 DOI: 10.1016/J.Ajhg.2010.07.001 |
0.481 |
|
| 2010 |
Léticée N, Bessières-Grattagliano B, Dupré T, Vuillaumier-Barrot S, de Lonlay P, Razavi F, El Khartoufi N, Ville Y, Vekemans M, Bouvier R, Seta N, Attié-Bitach T. Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis? Molecular Genetics and Metabolism. 101: 253-7. PMID 20638314 DOI: 10.1016/J.Ymgme.2010.06.009 |
0.567 |
|
| 2010 |
Valente EM, Logan CV, Mougou-Zerelli S, Lee JH, Silhavy JL, Brancati F, Iannicelli M, Travaglini L, Romani S, Illi B, Adams M, Szymanska K, Mazzotta A, Lee JE, Tolentino JC, ... ... Vekemans M, et al. Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nature Genetics. 42: 619-25. PMID 20512146 DOI: 10.1038/Ng.594 |
0.651 |
|
| 2010 |
Martinovic-Bouriel J, Benachi A, Bonnière M, Brahimi N, Esculpavit C, Morichon N, Vekemans M, Antignac C, Salomon R, Encha-Razavi F, Attié-Bitach T, Gubler MC. PAX2 mutations in fetal renal hypodysplasia. American Journal of Medical Genetics. Part A. 152: 830-5. PMID 20358591 DOI: 10.1002/Ajmg.A.33133 |
0.37 |
|
| 2010 |
Turleau C, Vekemans M. [Trisomy 21: fifty years between medicine and science]. Medecine Sciences : M/S. 26: 267-72. PMID 20346276 DOI: 10.1051/Medsci/2010263267 |
0.424 |
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| 2010 |
Chaabouni M, Etchevers H, De Blois MC, Calvas P, Waill-Perrier MC, Vekemans M, Romana SP. Identification of the IRXB gene cluster as candidate genes in severe dysgenesis of the ocular anterior segment. Investigative Ophthalmology & Visual Science. 51: 4380-6. PMID 20164457 DOI: 10.1167/Iovs.09-4111 |
0.763 |
|
| 2010 |
Malan V, Chevallier S, Soler G, Coubes C, Lacombe D, Pasquier L, Soulier J, Morichon-Delvallez N, Turleau C, Munnich A, Romana S, Vekemans M, Cormier-Daire V, Colleaux L. Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth. European Journal of Human Genetics : Ejhg. 18: 227-32. PMID 19844265 DOI: 10.1038/Ejhg.2009.162 |
0.449 |
|
| 2010 |
Rio M, Malan V, Boissel S, Toutain A, Royer G, Gobin S, Morichon-Delvallez N, Turleau C, Bonnefont JP, Munnich A, Vekemans M, Colleaux L. Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition. European Journal of Human Genetics : Ejhg. 18: 285-90. PMID 19844254 DOI: 10.1038/Ejhg.2009.159 |
0.426 |
|
| 2010 |
Arnaud A, Crétolle C, Babarit C, Galmiche L, Munnich A, Lyonnet S, Vekemans M, Etchevers H, Sarnacki S. CL004 - Expression de marqueurs de pluripotence dans des cellules de tératome sacro-coccygien Archives De Pediatrie. 17: 2. DOI: 10.1016/S0929-693X(10)70220-7 |
0.714 |
|
| 2009 |
Mougou-Zerelli S, Thomas S, Szenker E, Audollent S, Elkhartoufi N, Babarit C, Romano S, Salomon R, Amiel J, Esculpavit C, Gonzales M, Escudier E, Leheup B, Loget P, Odent S, ... ... Vekemans M, et al. CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. Human Mutation. 30: 1574-82. PMID 19777577 DOI: 10.1002/Humu.21116 |
0.455 |
|
| 2009 |
Bessières-Grattagliano B, Foliguet B, Devisme L, Loeuillet L, Marcorelles P, Bonnière M, Laquerrière A, Fallet-Bianco C, Martinovic J, Zrelli S, Leticee N, Cayol V, Etchevers HC, Vekemans M, Attie-Bitach T, et al. Refining the clinicopathological pattern of cerebral proliferative glomeruloid vasculopathy (Fowler syndrome): report of 16 fetal cases. European Journal of Medical Genetics. 52: 386-92. PMID 19635601 DOI: 10.1016/J.Ejmg.2009.07.006 |
0.804 |
|
| 2009 |
Soler G, Nusbaum S, Varet B, Macintyre EA, Vekemans M, Romana SP, Radford-Weiss I. LRRFIP1, a new FGFR1 partner gene associated with 8p11 myeloproliferative syndrome. Leukemia. 23: 1359-1361. PMID 19369959 DOI: 10.1038/Leu.2009.79 |
0.369 |
|
| 2009 |
De Pontual L, Mathieu Y, Golzio C, Rio M, Malan V, Boddaert N, Soufflet C, Picard C, Durandy A, Dobbie A, Heron D, Isidor B, Motte J, Newburry-Ecob R, Pasquier L, ... ... Vekemans M, et al. Mutational, functional, and expression studies of the TCF4 gene in pitt-hopkins syndrome Human Mutation. 30: 669-676. PMID 19235238 DOI: 10.1002/Humu.20935 |
0.795 |
|
| 2009 |
Benko S, Fantes JA, Amiel J, Kleinjan DJ, Thomas S, Ramsay J, Jamshidi N, Essafi A, Heaney S, Gordon CT, McBride D, Golzio C, Fisher M, Perry P, Abadie V, ... ... Vekemans M, et al. Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nature Genetics. 41: 359-64. PMID 19234473 DOI: 10.1038/Ng.329 |
0.763 |
|
| 2009 |
Malan V, Raoul O, Firth HV, Royer G, Turleau C, Bernheim A, Willatt L, Munnich A, Vekemans M, Lyonnet S, Cormier-daire V, Colleaux L. 19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation Journal of Medical Genetics. 46: 635-640. PMID 19126570 DOI: 10.1136/Jmg.2008.062034 |
0.44 |
|
| 2009 |
Golzio C, Havis E, Nuel G, Babarit C, Munnich A, Vekemans M, Lyonnet S, Etchevers H. Program/Abstract # 500 Developmental Biology. 331: 528. DOI: 10.1016/J.Ydbio.2009.05.528 |
0.695 |
|
| 2008 |
Thomas S, Thomas M, Wincker P, Babarit C, Xu P, Speer MC, Munnich A, Lyonnet S, Vekemans M, Etchevers HC. Human neural crest cells display molecular and phenotypic hallmarks of stem cells. Human Molecular Genetics. 17: 3411-25. PMID 18689800 DOI: 10.1093/Hmg/Ddn235 |
0.735 |
|
| 2008 |
Stamm DS, Siegel DG, Mehltretter L, Connelly JJ, Trott A, Ellis N, Zismann V, Stephan DA, George TM, Vekemans M, Ashley-Koch A, Gilbert JR, Gregory SG, Speer MC. Refinement of 2q and 7p loci in a large multiplex NTD family. Birth Defects Research. Part a, Clinical and Molecular Teratology. 82: 441-52. PMID 18452155 DOI: 10.1002/Bdra.20462 |
0.383 |
|
| 2008 |
Encha-Razavi F, Gonzalès M, Laquerrière A, Martinovic J, Sinico M, Allias F, Bonnière M, Esculpavit C, Gerard M, Attié-Bitach T, Vekemans M. A practical approach to the examination of the malformed fetal brain: impact on genetic counselling. Pathology. 40: 180-7. PMID 18203040 DOI: 10.1080/00313020701813719 |
0.353 |
|
| 2008 |
Malan V, De Blois MC, Prieur M, Perrier-Waill MC, Huguet-Nedjar C, Gegas L, Turleau C, Vekemans M, Munnich A, Romana SP. Sotos syndrome caused by a paracentric inversion disrupting the NSD1 gene. Clinical Genetics. 73: 89-91. PMID 18042263 DOI: 10.1111/J.1399-0004.2007.00916.X |
0.409 |
|
| 2008 |
Viot-Szoboszlai G, Amiel J, Doz F, Prieur M, Couturier J, Zucker J, Henry I, Munnich A, Vekemans M, Lyonnet S. Wilms' tumor and gonadal dysgenesis in a child with the 2q37.1 deletion syndrome. Clinical Genetics. 53: 278-280. PMID 9650765 DOI: 10.1111/J.1399-0004.1998.Tb02696.X |
0.346 |
|
| 2008 |
Satgé D, Vérité C, Bui BN, Perel Y, Taine L, Vekemans M, Lacombe D. A review of malignancies in fragile X syndrome and report of an Ewing sarcoma International Journal On Disability and Human Development. 7: 441-446. DOI: 10.1515/Ijdhd.2008.7.4.441 |
0.314 |
|
| 2007 |
Keren B, Bernardin C, Toutain A, Heron D, Fouquet B, Laudier B, Telvi L, Romana SP, Vekemans M, Sanlaville D. Pure proximal deletion of chromosome 21 and kyphosis. European Journal of Medical Genetics. 50: 469-74. PMID 17890169 DOI: 10.1016/J.Ejmg.2007.08.001 |
0.362 |
|
| 2007 |
Souraty N, Sanlaville D, Chédid R, Le Lorc'h M, Maurin ML, Ghanem L, Maalouf S, Vekemans M, Mégarbané A. Cytogenetic investigation of a child with a mosaic isochromosome 18q and ring 18q. European Journal of Medical Genetics. 50: 379-85. PMID 17716964 DOI: 10.1016/J.Ejmg.2007.06.001 |
0.353 |
|
| 2007 |
Baala L, Audollent S, Martinovic J, Ozilou C, Babron MC, Sivanandamoorthy S, Saunier S, Salomon R, Gonzales M, Rattenberry E, Esculpavit C, Toutain A, Moraine C, Parent P, Marcorelles P, ... ... Vekemans M, et al. Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. American Journal of Human Genetics. 81: 170-9. PMID 17564974 DOI: 10.1086/519494 |
0.673 |
|
| 2007 |
Delous M, Baala L, Salomon R, Laclef C, Vierkotten J, Tory K, Golzio C, Lacoste T, Besse L, Ozilou C, Moutkine I, Hellman NE, Anselme I, Silbermann F, Vesque C, ... ... Vekemans M, et al. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nature Genetics. 39: 875-81. PMID 17558409 DOI: 10.1038/Ng2039 |
0.635 |
|
| 2007 |
Golzio C, Martinovic-Bouriel J, Thomas S, Mougou-Zrelli S, Grattagliano-Bessieres B, Bonniere M, Delahaye S, Munnich A, Encha-Razavi F, Lyonnet S, Vekemans M, Attie-Bitach T, Etchevers HC. Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6. American Journal of Human Genetics. 80: 1179-87. PMID 17503335 DOI: 10.1086/518177 |
0.804 |
|
| 2007 |
Andrieux J, Villenet C, Quief S, Lignon S, Geffroy S, Roumier C, de Leersnyder H, de Blois MC, Manouvrier S, Delobel B, Benzacken B, Bitoun P, Attie-Bitach T, Thomas S, Lyonnet S, ... Vekemans M, et al. Genotype phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions. Journal of Medical Genetics. 44: 537-40. PMID 17468296 DOI: 10.1136/Jmg.2006.048736 |
0.664 |
|
| 2007 |
Khaddour R, Smith U, Baala L, Martinovic J, Clavering D, Shaffiq R, Ozilou C, Cullinane A, Kyttälä M, Shalev S, Audollent S, d'Humières C, Kadhom N, Esculpavit C, Viot G, ... ... Vekemans M, et al. Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. Human Mutation. 28: 523-4. PMID 17397051 DOI: 10.1002/Humu.9489 |
0.653 |
|
| 2007 |
Malan V, Gesny R, Morichon-Delvallez N, Aubry MC, Benachi A, Sanlaville D, Turleau C, Bonnefont JP, Fekete-Nihoul C, Vekemans M. Prenatal diagnosis and normal outcome of a 46,XX/46,XY chimera: A Case Report Human Reproduction. 22: 1037-1041. PMID 17272360 DOI: 10.1093/Humrep/Del480 |
0.369 |
|
| 2007 |
Fremeaux-Bacchi V, Sanlaville D, Menouer S, Blouin J, Dragon-Durey MA, Fischbach M, Vekemans M, Fridman WH. Unusual clinical severity of complement membrane cofactor protein-associated hemolytic-uremic syndrome and uniparental isodisomy. American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation. 49: 323-9. PMID 17261436 DOI: 10.1053/J.Ajkd.2006.10.022 |
0.474 |
|
| 2007 |
Martinovic-Bouriel J, Bernabé-Dupont C, Golzio C, Grattagliano-Bessières B, Malan V, Bonnière M, Esculpavit C, Fallet-Bianco C, Mirlesse V, Le Bidois J, Aubry MC, Vekemans M, Morichon N, Etchevers H, Attié-Bitach T, et al. Matthew-Wood syndrome: report of two new cases supporting autosomal recessive inheritance and exclusion of FGF10 and FGFR2. American Journal of Medical Genetics. Part A. 143: 219-28. PMID 17236193 DOI: 10.1002/Ajmg.A.31599 |
0.787 |
|
| 2007 |
Baala L, Romano S, Khaddour R, Saunier S, Smith UM, Audollent S, Ozilou C, Faivre L, Laurent N, Foliguet B, Munnich A, Lyonnet S, Salomon R, Encha-Razavi F, Gubler MC, ... ... Vekemans M, et al. The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. American Journal of Human Genetics. 80: 186-94. PMID 17160906 DOI: 10.1086/510499 |
0.678 |
|
| 2006 |
Chaabouni M, Martinovic J, Sanlaville D, Attié-Bittach T, Caillat S, Turleau C, Vekemans M, Morichon N. Prenatal diagnosis and molecular characterization of an interstitial 1q24.2q25.2 deletion. European Journal of Medical Genetics. 49: 487-93. PMID 17142120 DOI: 10.1016/J.Ejmg.2006.03.004 |
0.392 |
|
| 2006 |
Golzio C, Guirchoun J, Ozilou C, Thomas S, Goudefroye G, Morichon-Delvallez N, Vekemans M, Attié-Bitach T, Etchevers HC. Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomy. Prenatal Diagnosis. 26: 1201-5. PMID 17075794 DOI: 10.1002/Pd.1588 |
0.797 |
|
| 2006 |
Malan V, Vekemans M, Turleau C. Chimera and other fertilization errors. Clinical Genetics. 70: 363-373. PMID 17026615 DOI: 10.1111/J.1399-0004.2006.00689.X |
0.353 |
|
| 2006 |
Jacquemont ML, Sanlaville D, Redon R, Raoul O, Cormier-Daire V, Lyonnet S, Amiel J, Le Merrer M, Heron D, de Blois MC, Prieur M, Vekemans M, Carter NP, Munnich A, Colleaux L, et al. Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders. Journal of Medical Genetics. 43: 843-9. PMID 16840569 DOI: 10.1136/Jmg.2006.043166 |
0.418 |
|
| 2006 |
Chaabouni M, Le Merrer M, Raoul O, Prieur M, de Blois MC, Philippe A, Vekemans M, Romana SP. Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region. European Journal of Medical Genetics. 49: 255-63. PMID 16762827 DOI: 10.1016/J.Ejmg.2005.07.001 |
0.392 |
|
| 2006 |
Oey NA, Ruiter JPN, IJlst L, Attie-Bitach T, Vekemans M, Wanders RJA, Wijburg FA. Acyl-CoA dehydrogenase 9 (ACAD 9) is the long-chain acyl-CoA dehydrogenase in human embryonic and fetal brain. Biochemical and Biophysical Research Communications. 346: 33-37. PMID 16750164 DOI: 10.1016/J.Bbrc.2006.05.088 |
0.567 |
|
| 2006 |
Delnatte C, Sanlaville D, Mougenot JF, Vermeesch JR, Houdayer C, Blois MCD, Genevieve D, Goulet O, Fryns JP, Jaubert F, Vekemans M, Lyonnet S, Romana S, Eng C, Stoppa-Lyonnet D. Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes. American Journal of Human Genetics. 78: 1066-1074. PMID 16685657 DOI: 10.1086/504301 |
0.374 |
|
| 2006 |
Redon R, Baujat G, Sanlaville D, Le Merrer M, Vekemans M, Munnich A, Carter NP, Cormier-Daire V, Colleaux L. Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome. European Journal of Human Genetics : Ejhg. 14: 759-67. PMID 16570072 DOI: 10.1038/Sj.Ejhg.5201613 |
0.402 |
|
| 2006 |
Satgé D, Honoré L, Sasco AJ, Vekemans M, Chompret A, Réthoré MO. An ovarian dysgerminoma in Down syndrome. Hypothesis about the association. International Journal of Gynecological Cancer. 16: 375-379. PMID 16515627 DOI: 10.1111/J.1525-1438.2006.00211.X |
0.334 |
|
| 2006 |
Romana SP, Radford-Weiss I, Abdelali RB, Schluth C, Petit A, Dastugue N, Talmant P, Bilhou-Nabera C, Mugneret F, Lafage-Pochitaloff M, Mozziconacci M-, Andrieu J, Lai J-, Terre C, Rack K, ... ... Vekemans M, et al. NUP98 rearrangements in hematopoietic malignancies: a study of the Groupe Francophone de Cytogenetique Hematologique Leukemia. 20: 696-706. PMID 16467868 DOI: 10.1038/Sj.Leu.2404130 |
0.389 |
|
| 2006 |
Malan V, Martinovic J, Sanlaville D, Caillat S, Waill MC, Ganne ML, Tantau J, Attie-Bitach T, Vekemans M, Morichon-Delvallez N. Molecular characterisation of a prenatally diagnosed 5q15q21.3 deletion and review of the literature. Prenatal Diagnosis. 26: 231-8. PMID 16450350 DOI: 10.1002/Pd.1386 |
0.547 |
|
| 2006 |
Park JW, Cai J, McIntosh I, Jabs EW, Fallin MD, Ingersoll R, Hetmanski JB, Vekemans M, Attie-Bitach T, Lovett M, Scott AF, Beaty TH. High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts. Journal of Medical Genetics. 43: 598-608. PMID 16415175 DOI: 10.1136/Jmg.2005.040162 |
0.615 |
|
| 2006 |
Sanlaville D, Etchevers HC, Gonzales M, Martinovic J, Clément-Ziza M, Delezoide AL, Aubry MC, Pelet A, Chemouny S, Cruaud C, Audollent S, Esculpavit C, Goudefroye G, Ozilou C, Fredouille C, ... ... Vekemans M, et al. Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. Journal of Medical Genetics. 43: 211-217. PMID 16169932 DOI: 10.1136/Jmg.2005.036160 |
0.784 |
|
| 2006 |
Frebourg T, Oliveira C, Hochain P, Karam R, Manouvrier S, Graziadio C, Vekemans M, Hartmann A, Baert-Desurmont S, Alexandre C, Lejeune Dumoulin S, Marroni C, Martin C, Castedo S, Lovett M, et al. Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer. Journal of Medical Genetics. 43: 138-42. PMID 15831593 DOI: 10.1136/Jmg.2005.031385 |
0.368 |
|
| 2006 |
Sanlaville D, Delnatte C, Mougenot JF, Vermeesch JR, Houdayer C, Blois MCD, Genevieve D, Goulet O, Fryns JP, Jaubert F, Vekemans M, Lyonnet S, Romana S, Eng C, Stoppa-Lyonnet D. Reply to Salviati et al. American Journal of Human Genetics. 79: 596-597. DOI: 10.1086/507152 |
0.432 |
|
| 2005 |
Turleau C, Vekemans M. [New developments in cytogenetics]. Medecine Sciences : M/S. 21: 940-6. PMID 16274645 DOI: 10.1051/Medsci/20052111940 |
0.377 |
|
| 2005 |
Sanlaville D, Lapierre JM, Turleau C, Coquin A, Borck G, Colleaux L, Vekemans M, Romana SP. Molecular karyotyping in human constitutional cytogenetics. European Journal of Medical Genetics. 48: 214-31. PMID 16179218 DOI: 10.1016/J.Ejmg.2005.04.013 |
0.315 |
|
| 2005 |
Giurgea I, Sanlaville D, Fournet J, Sempoux C, Bellanné-Chantelot C, Touati G, Hubert L, Groos M, Brunelle F, Rahier J, Henquin J, Dunne MJ, Jaubert F, Robert J, Nihoul-Fékété C, ... Vekemans M, et al. Congenital hyperinsulinism and mosaic abnormalities of the ploidy Journal of Medical Genetics. 43: 248-254. PMID 16033916 DOI: 10.1136/Jmg.2005.034116 |
0.435 |
|
| 2005 |
Detrait ER, George TM, Etchevers HC, Gilbert JR, Vekemans M, Speer MC. Human neural tube defects: developmental biology, epidemiology, and genetics. Neurotoxicology and Teratology. 27: 515-24. PMID 15939212 DOI: 10.1016/J.Ntt.2004.12.007 |
0.751 |
|
| 2005 |
Geneviève D, Sanlaville D, Faivre L, Kottler ML, Jambou M, Gosset P, Boustani-Samara D, Pinto G, Ozilou C, Abeguilé G, Munnich A, Romana S, Raoul O, Cormier-Daire V, Vekemans M. Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties. European Journal of Human Genetics : Ejhg. 13: 1033-9. PMID 15915160 DOI: 10.1038/Sj.Ejhg.5201448 |
0.408 |
|
| 2005 |
Deak KL, Boyles AL, Etchevers HC, Melvin EC, Siegel DG, Graham FL, Slifer SH, Enterline DS, George TM, Vekemans M, McClay D, Bassuk AG, Kessler JA, Linney E, Gilbert JR, et al. SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects. Human Genetics. 117: 133-42. PMID 15883837 DOI: 10.1007/S00439-005-1299-7 |
0.746 |
|
| 2005 |
Oey NA, den Boer ME, Wijburg FA, Vekemans M, Augé J, Steiner C, Wanders RJ, Waterham HR, Ruiter JP, Attié-Bitach T. Long-chain fatty acid oxidation during early human development. Pediatric Research. 57: 755-9. PMID 15845636 DOI: 10.1203/01.Pdr.0000161413.42874.74 |
0.575 |
|
| 2005 |
Sanlaville D, Genevieve D, Bernardin C, Amiel J, Baumann C, de Blois MC, Cormier-Daire V, Gerard B, Gerard M, Le Merrer M, Parent P, Prieur F, Prieur M, Raoul O, Toutain A, ... ... Vekemans M, et al. Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome. European Journal of Human Genetics : Ejhg. 13: 690-3. PMID 15770228 DOI: 10.1038/Sj.Ejhg.5201383 |
0.361 |
|
| 2005 |
Sanlaville D, Prieur M, de Blois MC, Genevieve D, Lapierre JM, Ozilou C, Picq M, Gosset P, Morichon-Delvallez N, Munnich A, Cormier-Daire V, Baujat G, Romana S, Vekemans M, Turleau C. Functional disomy of the Xq28 chromosome region. European Journal of Human Genetics : Ejhg. 13: 579-85. PMID 15741994 DOI: 10.1038/Sj.Ejhg.5201384 |
0.364 |
|
| 2005 |
Cai J, Ash D, Kotch LE, Jabs EW, Attie-Bitach T, Auge J, Mattei G, Etchevers H, Vekemans M, Korshunova Y, Tidwell R, Messina DN, Winston JB, Lovett M. Gene expression in pharyngeal arch 1 during human embryonic development. Human Molecular Genetics. 14: 903-12. PMID 15703188 DOI: 10.1093/Hmg/Ddi083 |
0.799 |
|
| 2005 |
Karmous-Benailly H, Martinovic J, Gubler MC, Sirot Y, Clech L, Ozilou C, Auge J, Brahimi N, Etchevers H, Detrait E, Esculpavit C, Audollent S, Goudefroye G, Gonzales M, Tantau J, ... ... Vekemans M, et al. Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. American Journal of Human Genetics. 76: 493-504. PMID 15666242 DOI: 10.1086/428679 |
0.797 |
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| 2005 |
Molinari F, Raas-Rothschild A, Rio M, Fiermonte G, Encha-Razavi F, Palmieri L, Palmieri F, Ben-Neriah Z, Kadhom N, Vekemans M, Attie-Bitach T, Munnich A, Rustin P, Colleaux L. Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. American Journal of Human Genetics. 76: 334-9. PMID 15592994 DOI: 10.1086/427564 |
0.587 |
|
| 2005 |
Trueba SS, Augé J, Mattei G, Etchevers H, Martinovic J, Czernichow P, Vekemans M, Polak M, Attié-Bitach T. PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations. The Journal of Clinical Endocrinology and Metabolism. 90: 455-62. PMID 15494458 DOI: 10.1210/Jc.2004-1358 |
0.773 |
|
| 2004 |
Borck G, Redon R, Sanlaville D, Rio M, Prieur M, Lyonnet S, Vekemans M, Carter NP, Munnich A, Colleaux L, Cormier-Daire V. NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome. Journal of Medical Genetics. 41: e128. PMID 15591270 DOI: 10.1136/Jmg.2004.026666 |
0.505 |
|
| 2004 |
Sobrier ML, Attié-Bitach T, Netchine I, Encha-Razavi F, Vekemans M, Amselem S. Pathophysiology of syndromic combined pituitary hormone deficiency due to a LHX3 defect in light of LHX3 and LHX4 expression during early human development. Gene Expression Patterns : Gep. 5: 279-84. PMID 15567726 DOI: 10.1016/J.Modgep.2004.07.003 |
0.437 |
|
| 2004 |
Tabet AC, Gosset P, Elghezal H, Fontaine S, Martinovic J, Encha Razavi F, Romana S, Vekemans M, Morichon-Delvallez N. Prenatal diagnosis and characterization of an analphoid marker chromosome 16. Prenatal Diagnosis. 24: 733-6. PMID 15386469 DOI: 10.1002/Pd.804 |
0.356 |
|
| 2004 |
Bache I, Assche EV, Cingoz S, Bugge M, Tümer Z, Hjorth M, Lundsteen C, Lespinasse J, Winther K, Niebuhr A, Kalscheuer V, Liebaers I, Bonduelle M, Tournaye H, Ayuso C, ... ... Vekemans M, et al. An excess of chromosome 1 breakpoints in male infertility. European Journal of Human Genetics : Ejhg. 12: 993-1000. PMID 15367911 DOI: 10.1038/Sj.Ejhg.5201263 |
0.336 |
|
| 2004 |
Borck G, Rio M, Sanlaville D, Redon R, Molinari F, Bacq D, Raoul O, Cormier-Daire V, Lyonnet S, Amiel J, Le Merrer M, de Blois MC, Prieur M, Vekemans M, Carter NP, et al. Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation. Clinical Genetics. 66: 122-7. PMID 15253762 DOI: 10.1111/J.1399-0004.2004.00288.X |
0.392 |
|
| 2004 |
Pinson L, Augé J, Audollent S, Mattéi G, Etchevers H, Gigarel N, Razavi F, Lacombe D, Odent S, Le Merrer M, Amiel J, Munnich A, Meroni G, Lyonnet S, Vekemans M, et al. Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome. Journal of Medical Genetics. 41: 381-6. PMID 15121778 DOI: 10.1136/Jmg.2003.014829 |
0.824 |
|
| 2004 |
Espinosa-Parrilla Y, Encha-Razavi F, Attié-Bitach T, Martinovic J, Morichon-Delvallez N, Munnich A, Vekemans M, Lyonnet S, Amiel J. Molecular screening of the ZFHX1B gene in prenatally diagnosed isolated agenesis of the corpus callosum. Prenatal Diagnosis. 24: 298-301. PMID 15065106 DOI: 10.1002/Pd.865 |
0.447 |
|
| 2004 |
Viot G, Sonigo P, Simon I, Simon-Bouy B, Chadeyron F, Beldjord C, Tantau J, Martinovic J, Esculpavit C, Brunelle F, Munnich A, Vekemans M, Encha-Razavi F. Neocortical neuronal arrangement in LIS1 and DCX lissencephaly may be different. American Journal of Medical Genetics. Part A. 126: 123-8. PMID 15057976 DOI: 10.1002/Ajmg.A.20569 |
0.396 |
|
| 2003 |
Brisset S, Romana S, Texier I, Lapierre JM, North MO, Vekemans M, Morichon-Delvallez N. CGH analysis in a cohort of 17 chromosomally normal fetuses with an increased nuchal translucency. Prenatal Diagnosis. 23: 1017-8. PMID 14663841 DOI: 10.1002/Pd.677 |
0.331 |
|
| 2003 |
de Pontual L, Népote V, Attié-Bitach T, Al Halabiah H, Trang H, Elghouzzi V, Levacher B, Benihoud K, Augé J, Faure C, Laudier B, Vekemans M, Munnich A, Perricaudet M, Guillemot F, et al. Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse). Human Molecular Genetics. 12: 3173-80. PMID 14532329 DOI: 10.1093/Hmg/Ddg339 |
0.632 |
|
| 2003 |
Benailly HK, Lapierre JM, Laudier B, Amiel J, Attié T, De Blois MC, Vekemans M, Romana SP. PMX2B, a new candidate gene for Hirschsprung's disease. Clinical Genetics. 64: 204-9. PMID 12919134 DOI: 10.1034/J.1399-0004.2003.00105.X |
0.446 |
|
| 2003 |
Germanaud D, Audollent S, Augé J, Vekemans M, Attié-Bitach T. Détection moléculaire des aneuploïdies les plus fréquentes par PCR quantitative fluorescente (FQ-PCR) Archives De Pediatrie. 10: 347-349. PMID 12818758 DOI: 10.1016/S0929-693X(03)00080-0 |
0.51 |
|
| 2003 |
Rio M, Clech L, Amiel J, Faivre L, Lyonnet S, Merrer ML, Odent S, Lacombe D, Edery P, Brauner R, Raoul O, Gosset P, Prieur M, Vekemans M, Munnich A, et al. Spectrum of NSD1 mutations in Sotos and Weaver syndromes Journal of Medical Genetics. 40: 436-440. PMID 12807965 DOI: 10.1136/Jmg.40.6.436 |
0.428 |
|
| 2003 |
Cormier-Daire V, Molinari F, Rio M, Raoul O, de Blois MC, Romana S, Vekemans M, Munnich A, Colleaux L. Cryptic terminal deletion of chromosome 9q34: a novel cause of syndromic obesity in childhood? Journal of Medical Genetics. 40: 300-3. PMID 12676904 DOI: 10.1136/Jmg.40.4.300 |
0.374 |
|
| 2003 |
Amiel J, Laudier B, Attié-Bitach T, Trang H, de Pontual L, Gener B, Trochet D, Etchevers H, Ray P, Simonneau M, Vekemans M, Munnich A, Gaultier C, Lyonnet S. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nature Genetics. 33: 459-61. PMID 12640453 DOI: 10.1038/Ng1130 |
0.826 |
|
| 2003 |
Tachdjian G, Frydman N, Morichon-Delvallez N, Dû AL, Fanchin R, Vekemans M, Frydman R. Reproductive genetic counselling in non-mosaic 47,XXY patients: implications for preimplantation or prenatal diagnosis: Case report and review. Human Reproduction (Oxford, England). 18: 271-5. PMID 12571161 DOI: 10.1093/Humrep/Deg070 |
0.37 |
|
| 2003 |
Genevieve D, Cormier-Daire V, Sanlaville D, Faivre L, Gosset P, Allart L, Picq M, Munnich A, Romana S, de Blois M, Vekemans M. Mild phenotype in a 15-year-old boy with Pallister-Killian syndrome. American Journal of Medical Genetics. Part A. 116: 90-3. PMID 12476459 DOI: 10.1002/Ajmg.A.10877 |
0.369 |
|
| 2002 |
Molinari F, Rio M, Meskenaite V, Encha-Razavi F, Augé J, Bacq D, Briault S, Vekemans M, Munnich A, Attié-Bitach T, Sonderegger P, Colleaux L. Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation. Science (New York, N.Y.). 298: 1779-81. PMID 12459588 DOI: 10.1126/Science.1076521 |
0.341 |
|
| 2002 |
Brisset S, Joly G, Ozilou C, Lapierre JM, Gosset P, LeLorc'h M, Raoul O, Turleau C, Vekemans M, Romana SP. Molecular characterization of partial trisomy 16q24.1-qter: clinical report and review of the literature. American Journal of Medical Genetics. 113: 339-45. PMID 12457405 DOI: 10.1002/Ajmg.B.10740 |
0.361 |
|
| 2002 |
Faivre L, Gosset P, Cormier-Daire V, Odent S, Amiel J, Giurgea I, Nassogne MC, Pasquier L, Munnich A, Romana S, Prieur M, Vekemans M, De Blois MC, Turleau C. Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature. European Journal of Human Genetics : Ejhg. 10: 699-706. PMID 12404101 DOI: 10.1038/Sj.Ejhg.5200879 |
0.402 |
|
| 2002 |
Espinosa-Parrilla Y, Amiel J, Augé J, Encha-Razavi F, Munnich A, Lyonnet S, Vekemans M, Attié-Bitach T. Expression of the SMADIP1 gene during early human development. Mechanisms of Development. 114: 187-91. PMID 12175509 DOI: 10.1016/S0925-4773(02)00062-X |
0.419 |
|
| 2002 |
Faivre L, Cormier-Daire V, Lapierre JM, Colleaux L, Jacquemont S, Geneviéve D, Saunier P, Munnich A, Turleau C, Romana S, Prieur M, De Blois MC, Vekemans M. Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype. Journal of Medical Genetics. 39: 594-6. PMID 12161602 DOI: 10.1136/Jmg.39.8.594 |
0.399 |
|
| 2002 |
Lichtner P, Attié-Bitach T, Schuffenhauer S, Henwood J, Bouvagnet P, Scambler PJ, Meitinger T, Vekemans M. Expression and mutation analysis of BRUNOL3, a candidate gene for heart and thymus developmental defects associated with partial monosomy 10p. Journal of Molecular Medicine (Berlin, Germany). 80: 431-42. PMID 12110949 DOI: 10.1007/s00109-002-0331-9 |
0.377 |
|
| 2002 |
Ray PF, Frydman N, Attié T, Hamamah S, Kerbrat V, Tachdjian G, Romana S, Vekemans M, Frydman R, Munnich A. Birth of healthy female twins after preimplantation genetic diagnosis of cystic fibrosis combined with gender determination. Molecular Human Reproduction. 8: 688-94. PMID 12087085 DOI: 10.1093/Molehr/8.7.688 |
0.367 |
|
| 2002 |
Rio M, Molinari F, Heuertz S, Ozilou C, Gosset P, Raoul O, Cormier-Daire V, Amiel J, Lyonnet S, Le Merrer M, Turleau C, de Blois MC, Prieur M, Romana S, Vekemans M, et al. Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation. Journal of Medical Genetics. 39: 266-70. PMID 11950856 DOI: 10.1136/Jmg.39.4.266 |
0.361 |
|
| 2002 |
Sanlaville D, Romana SP, Lapierre JM, Amiel J, Genevieve D, Ozilou C, Le Lorch M, Brisset S, Gosset P, Baumann C, Turleau C, Lyonnet S, Vekemans M. A CGH study of 27 patients with CHARGE association. Clinical Genetics. 61: 135-8. PMID 11940088 DOI: 10.1034/J.1399-0004.2002.610208.X |
0.372 |
|
| 2001 |
Mégarbané A, Gosset P, Souraty N, Lapierre JM, Korban R, Zahed L, Samaras L, Vekemans M, Prieur M. Chromosome 10p11.2-p12.2 duplication: report of a patient and review of the literature. American Journal of Medical Genetics. 104: 204-8. PMID 11754045 DOI: 10.1002/Ajmg.10021 |
0.326 |
|
| 2001 |
Amiel J, Espinosa-Parrilla Y, Steffann J, Gosset P, Pelet A, Prieur M, Boute O, Choiset A, Lacombe D, Philip N, Merrer ML, Tanaka H, Till M, Touraine R, Toutain A, ... Vekemans M, et al. Large-Scale Deletions and SMADIP1 Truncating Mutations in Syndromic Hirschsprung Disease with Involvement of Midline Structures American Journal of Human Genetics. 69: 1370-1377. PMID 11595972 DOI: 10.1086/324342 |
0.47 |
|
| 2001 |
Joly G, Lapierre JM, Ozilou C, Gosset P, Aurias A, de Blois MC, Prieur M, Raoul O, Colleaux L, Munnich A, Romana S, Vekemans M, Turleau C. Comparative genomic hybridisation in mentally retarded patients with dysmorphic features and a normal karyotype. Clinical Genetics. 60: 212-9. PMID 11595023 DOI: 10.1034/J.1399-0004.2001.600307.X |
0.354 |
|
| 2001 |
Rio M, Ozilou C, Cormier-Daire V, Turleau C, Prieur M, Vekemans M, Chauveau P, Munnich A, Colleaux L. Partial maternal heterodisomy of chromosome 17q25 in a case of severe mental retardation. Human Genetics. 108: 511-515. PMID 11499677 DOI: 10.1007/S004390100522 |
0.373 |
|
| 2001 |
Colleaux L, Rio M, Heuertz S, Moindrault S, Turleau C, Ozilou C, Gosset P, Raoult O, Lyonnet S, Cormier-Daire V, Amiel J, Le Merrer M, Picq M, de Blois MC, Prieur M, ... ... Vekemans M, et al. A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation. European Journal of Human Genetics : Ejhg. 9: 319-27. PMID 11378819 DOI: 10.1038/Sj.Ejhg.5200591 |
0.312 |
|
| 2001 |
Ray PF, Vekemans M, Munnich A. Single cell multiplex PCR amplification of five dystrophin gene exons combined with gender determination. Molecular Human Reproduction. 7: 489-494. PMID 11331673 DOI: 10.1093/Molehr/7.5.489 |
0.372 |
|
| 2001 |
Mégarbané A, Lorc'h ML, Elghezal H, Joly G, Gosset P, Souraty N, Samaras L, Prieur M, Vekemans M, Turleau C, Romana SP. Pure partial 7p trisomy including the TWIST, HOXA, and GLI3 genes. Journal of Medical Genetics. 38: 178-182. PMID 11303510 DOI: 10.1136/Jmg.38.3.178 |
0.37 |
|
| 2001 |
Elghezal H, Guyader GL, Radford‐Weiss I, Perot C, Akker JVD, Eydoux P, Vekemans M, Romana SP. Reassessment of childhood B-lineage lymphoblastic leukemia karyotypes using spectral analysis. Genes, Chromosomes and Cancer. 30: 383-392. PMID 11241791 DOI: 10.1002/Gcc.1104 |
0.345 |
|
| 2001 |
Faivre L, Vekemans M, Sanlaville D, Munnich A, Cormier‐Daire V. No evidence of unbalanced growth-related gene inheritance in a series of overgrowth syndrome patients. American Journal of Medical Genetics. 99: 166-167. PMID 11241482 DOI: 10.1002/1096-8628(2000)9999:999<00::Aid-Ajmg1140>3.0.Co;2-O |
0.375 |
|
| 2001 |
Salomon R, Tellier A, Attie-Bitach T, Amiel J, Vekemans M, Lyonnet S, Dureau P, Niaudet P, Gubler M, Broyer M. PAX2 mutations in oligomeganephronia Kidney International. 59: 457-462. PMID 11168927 DOI: 10.1046/J.1523-1755.2001.059002457.X |
0.608 |
|
| 2001 |
Rendtorff ND, Frödin M, Attié-Bitach T, Vekemans M, Tommerup N. Identification and characterization of an inner ear-expressed human melanoma inhibitory activity (MIA)-like gene (MIAL) with a frequent polymorphism that abolishes translation. Genomics. 71: 40-52. PMID 11161796 DOI: 10.1006/Geno.2000.6409 |
0.622 |
|
| 2000 |
Ray PF, Gigarel N, Bonnefont JP, Attié T, Hamamah S, Frydman N, Vekemans M, Frydman R, Munnich A. First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiency. Prenatal Diagnosis. 20: 1048-1054. PMID 11180228 DOI: 10.1002/1097-0223(200012)20:13<1048::Aid-Pd975>3.0.Co;2-8 |
0.363 |
|
| 2000 |
Amiel J, Audollent S, Joly D, Dureau P, Salomon R, Tellier A, Augé J, Bouissou F, Antignac C, Gubler M, Eccles MR, Munnich A, Vekemans M, Lyonnet S, Attié-Bitach T. PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism. European Journal of Human Genetics. 8: 820-826. PMID 11093271 DOI: 10.1038/Sj.Ejhg.5200539 |
0.655 |
|
| 2000 |
Mégarbané A, Gosset P, Souraty N, Lapierre JM, Turleau C, Vekemans M, Loiselet J, Prieur M. Chromosome 7q22-q31 duplication: report of a new case and review. American Journal of Medical Genetics. 95: 164-8. PMID 11078569 DOI: 10.1002/1096-8628(20001113)95:2<164::Aid-Ajmg14>3.0.Co;2-G |
0.369 |
|
| 2000 |
Kalousek DK, Vekemans M. Confined placental mosaicism and genomic imprinting. Best Practice & Research in Clinical Obstetrics & Gynaecology. 14: 723-730. PMID 10985941 DOI: 10.1053/Beog.2000.0107 |
0.435 |
|
| 2000 |
Crosnier C, Attié-Bitach T, Encha-Razavi F, Audollent S, Soudy F, Hadchouel M, Meunier-Rotival M, Vekemans M. JAGGED1 gene expression during human embryogenesis elucidates the wide phenotypic spectrum of Alagille syndrome. Hepatology (Baltimore, Md.). 32: 574-81. PMID 10960452 DOI: 10.1053/Jhep.2000.16600 |
0.443 |
|
| 2000 |
Sanlaville D, Aubry MC, Dumez Y, Nolen MC, Amiel J, Pinson MP, Lyonnet S, Munnich A, Vekemans M, Morichon-Delvallez N. Maternal uniparental heterodisomy of chromosome 14: chromosomal mechanism and clinical follow up Journal of Medical Genetics. 37: 525-528. PMID 10882756 DOI: 10.1136/Jmg.37.7.525 |
0.376 |
|
| 2000 |
Tellier AL, Amiel J, Delezoide AL, Audollent S, Augé J, Esnault D, Encha-Razavi F, Munnich A, Lyonnet S, Vekemans M, Attié-Bitach T. Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome. American Journal of Medical Genetics. 93: 85-8. PMID 10869107 DOI: 10.1002/1096-8628(20000717)93:2<85::Aid-Ajmg1>3.0.Co;2-B |
0.422 |
|
| 2000 |
Fert-Ferrer S, Guichet A, Tantau J, Delezoide AL, Ozilou C, Romana SP, Gosset P, Viot G, Loison S, Moraine C, Morichon-Delvallez N, Turleau C, Vekemans M, Prieur M. Subtle familial unbalanced translocation t(8;11)(p23.2;p15.5) in two fetuses with Beckwith-Wiedemann features. Prenatal Diagnosis. 20: 511-5. PMID 10861719 DOI: 10.1002/1097-0223(200006)20:6<511::Aid-Pd849>3.0.Co;2-B |
0.378 |
|
| 2000 |
Gimm O, Attié-Bitach T, Lees JA, Vekemans M, Eng C. Expression of the PTEN tumour suppressor protein during human development. Human Molecular Genetics. 9: 1633-9. PMID 10861290 DOI: 10.1093/Hmg/9.11.1633 |
0.631 |
|
| 2000 |
Faivre L, Radford I, Viot G, Edery P, Munnich A, Tardieu M, Vekemans M. Cerebellar ataxia and mental retardation in a child with an inherited satellited chromosome 4q. Annales De Genetique. 43: 35-38. PMID 10818219 DOI: 10.1016/S0003-3995(00)00016-2 |
0.358 |
|
| 2000 |
Rachidi M, Lopes C, Gassanova S, Sinet P, Vekemans M, Attie T, Delezoide A, Delabar J. Regional and cellular specificity of the expression of TPRD, the tetratricopeptide Down syndrome gene, during human embryonic development Mechanisms of Development. 93: 189-193. PMID 10781955 DOI: 10.1016/S0925-4773(00)00259-8 |
0.444 |
|
| 2000 |
Kirillova I, Novikova I, Augé J, Audollent S, Esnault D, Encha-Razavi F, Lazjuk G, Attié-Bitach T, Vekemans M. Expression of the sonic hedgehog gene in human embryos with neural tube defects. Teratology. 61: 347-54. PMID 10777830 DOI: 10.1002/(Sici)1096-9926(200005)61:5<347::Aid-Tera6>3.0.Co;2-# |
0.366 |
|
| 2000 |
Faivre L, Viot G, Prieur M, Turleau C, Gosset P, Romana S, Munnich A, Vekemans M, Cormier‐Daire V. Apparent Sotos syndrome (cerebral gigantism) in a child with trisomy 20p11.2-p12.1 mosaicism American Journal of Medical Genetics. 91: 273-276. PMID 10766982 DOI: 10.1002/(Sici)1096-8628(20000410)91:4<273::Aid-Ajmg6>3.0.Co;2-H |
0.391 |
|
| 2000 |
Touraine RL, Attié-Bitach T, Manceau E, Korsch E, Sarda P, Pingault V, Encha-Razavi F, Pelet A, Augé J, Nivelon-Chevallier A, Holschneider AM, Munnes M, Doerfler W, Goossens M, Munnich A, ... Vekemans M, et al. Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain. American Journal of Human Genetics. 66: 1496-503. PMID 10762540 DOI: 10.1086/302895 |
0.455 |
|
| 2000 |
Amiel J, Salomon R, Attié-Bitach T, Touraine R, Steffann J, Pelet A, Nihoul-Fékété C, Vekemans M, Munnich A, Lyonnet S. Génétique moléculaire de la maladie de Hirschsprung: un modèle de neurocristopathie multigénique. Biologie Aujourd'Hui. 194: 125-128. DOI: 10.1051/Jbio/2000194030125 |
0.54 |
|
| 1999 |
Cormier-Daire V, Belin V, Cusin V, Viot G, Girlich D, Toutain A, Moncla A, Vekemans M, Merrer ML, Munnich A. SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome. Acta Paediatrica. 88: 55-59. PMID 10626546 DOI: 10.1111/J.1651-2227.1999.Tb14404.X |
0.455 |
|
| 1999 |
Odent S, Attié-Bitach T, Blayau M, Mathieu M, Augé J, Delezoïde AL, Le Gall JY, Le Marec B, Munnich A, David V, Vekemans M. Expression of the Sonic hedgehog (SHH) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly Human Molecular Genetics. 8: 1683-1689. PMID 10441331 DOI: 10.1093/Hmg/8.9.1683 |
0.669 |
|
| 1999 |
Harrison CJ, Radford-Weiss I, Ross F, Rack K, Guyader Gl, Vekemans M, Macintyre E. Fluorescence in situ hybridization analysis of masked (8;21)(q22;q22) translocations. Cancer Genetics and Cytogenetics. 112: 15-20. PMID 10432929 DOI: 10.1016/S0165-4608(98)00244-1 |
0.322 |
|
| 1999 |
Faivre L, Morichon-Delvallez N, Viot G, Larget-Piet A, Narcy F, Turleau C, Pinson MP, Dumez Y, Munnich A, Vekemans M. Prenatal diagnosis of a satellited non-acrocentric chromosome derived from a maternal translocation (10;13)(p13;p12) and review of literature. Prenatal Diagnosis. 19: 282-286. PMID 10210132 DOI: 10.1002/(Sici)1097-0223(199903)19:3<282::Aid-Pd521>3.0.Co;2-8 |
0.338 |
|
| 1999 |
Kara-Mostefa A, Raoul O, Lyonnet S, Amiel J, Munnich A, Vekemans M, Magnier S, Ossareh B, Bonnefont J. Recurrent Williams-Beuren syndrome in a sibship suggestive of maternal germ-line mosaicism. American Journal of Human Genetics. 64: 1475-1478. PMID 10205282 DOI: 10.1086/302362 |
0.333 |
|
| 1999 |
Faivre L, Vekemans M. Risk factors for heart defects in Down syndrome. Teratology. 59: 132-132. PMID 10194802 DOI: 10.1002/(Sici)1096-9926(199903)59:3<132::Aid-Tera3>3.0.Co;2-X |
0.306 |
|
| 1999 |
Faivre L, Morichon-Delvallez N, Viot G, Martinovic J, Pinson MP, Aubry JP, Raclin V, Edery P, Dumez Y, Munnich A, Vekemans M. Prenatal detection of a 1p36 deletion in a fetus with multiple malformations and a review of the literature. Prenatal Diagnosis. 19: 49-53. PMID 10073907 DOI: 10.1002/(Sici)1097-0223(199901)19:1<49::Aid-Pd450>3.0.Co;2-C |
0.356 |
|
| 1999 |
Faivre L, Delezoide A-, Narcy F, Razavi F, Bouvier R, Cormier-Daire V, Briard M-, Lyonnet S, Vekemans M, Munnich A, Merrer ML. A new lethal syndrome of exomphalos, short limbs, and macrogonadism Journal of Medical Genetics. 36: 131-136. DOI: 10.1136/Jmg.36.2.131 |
0.405 |
|
| 1998 |
Attié-Bitach T, Abitbol M, Gérard M, Delezoide AL, Augé J, Pelet A, Amiel J, Pachnis V, Munnich A, Lyonnet S, Vekemans M. Expression of the RET proto-oncogene in human embryos. American Journal of Medical Genetics. 80: 481-6. PMID 9880212 DOI: 10.1002/(Sici)1096-8628(19981228)80:5<481::Aid-Ajmg8>3.0.Co;2-6 |
0.387 |
|
| 1998 |
Iserin L, Lonlay Pd, Viot G, Sidi D, Kachaner J, Munnich A, Lyonnet S, Vekemans M, Bonnet D. Prevalence of the microdeletion 22q11 in newborn infants with congenital conotruncal cardiac anomalies. European Journal of Pediatrics. 157: 881-884. PMID 9835429 DOI: 10.1007/S004310050959 |
0.338 |
|
| 1998 |
Rack KA, Salomon-Nguyen F, Radford-Weiss I, Gil MO, Schmitt C, Belanger C, Nusbaum S, Vekemans M, Valensi F, Macintyre EA. FISH detection of chromosome 14q32/IgH translocations: evaluation in follicular lymphoma. British Journal of Haematology. 103: 495-504. PMID 9827925 DOI: 10.1046/J.1365-2141.1998.01009.X |
0.323 |
|
| 1998 |
Faivre L, Morichon-Delvallez N, Viot G, Narcy F, Loison S, Mandelbrot L, Aubry MC, Raclin V, Edery P, Munnich A, Vekemans M. Prenatal diagnosis of an 8p23.1 deletion in a fetus with a diaphragmatic hernia and review of the literature Prenatal Diagnosis. 18: 1055-1060. PMID 9826897 DOI: 10.1002/(Sici)1097-0223(1998100)18:10<1055::Aid-Pd405>3.0.Co;2-I |
0.361 |
|
| 1998 |
de Lonlay-Debeney P, de Blois MC, Bonnet D, Amiel J, Abadie V, Picq M, Lyonnet S, Sidi D, Munnich A, Vekemans M, Cormier-Daire V. Ebstein anomaly associated with rearrangements of chromosomal region 11q. American Journal of Medical Genetics. 80: 157-9. PMID 9805133 DOI: 10.1002/(Sici)1096-8628(19981102)80:2<157::Aid-Ajmg12>3.0.Co;2-U |
0.358 |
|
| 1998 |
Ottolenghi C, Vekemans M. Genetic divergence between mouse and humans : A useful direction for gene pathway analysis Teratology. 58: 82-87. PMID 9802187 DOI: 10.1002/(Sici)1096-9926(199809/10)58:3/4<82::Aid-Tera3>3.0.Co;2-B |
0.338 |
|
| 1998 |
Rack K, Delabesse E, Radford-Weiss I, Bourquelot P, Guyader GL, Vekemans M, Macintyre E. Simultaneous detection of MYC, BVR1, and PVT1 translocations in lymphoid malignancies by fluorescence in situ hybridization Genes, Chromosomes and Cancer. 23: 220-226. PMID 9790502 DOI: 10.1002/(Sici)1098-2264(199811)23:3<220::Aid-Gcc3>3.0.Co;2-3 |
0.321 |
|
| 1998 |
Delezoide A, Benoist-Lasselin C, Legeai-Mallet L, Merrer ML, Munnich A, Vekemans M, Bonaventure J. Spatio-temporal expression of FGFR 1, 2 and 3 genes during human embryo-fetal ossification Mechanisms of Development. 77: 19-30. PMID 9784595 DOI: 10.1016/S0925-4773(98)00133-6 |
0.438 |
|
| 1998 |
Laurent A, Rouillac C, Delezoide A, Giovangrandi Y, Vekemans M, Bellet D, Abitbol M, Vidaud M. Insulin-like 4 (INSL4) gene expression in human embryonic and trophoblastic tissues. Molecular Reproduction and Development. 51: 123-129. PMID 9740319 DOI: 10.1002/(Sici)1098-2795(199810)51:2<123::Aid-Mrd1>3.0.Co;2-S |
0.313 |
|
| 1998 |
Belin V, Cusin V, Viot G, Girlich D, Toutain A, Moncla A, Vekemans M, Merrer ML, Munnich A, Cormier-Daire V. SHOX mutations in dyschondrosteosis (Leri-Weill syndrome) Nature Genetics. 19: 67-69. PMID 9590292 DOI: 10.1038/Ng0198-67 |
0.383 |
|
| 1998 |
Storeng RT, Plachot M, Theophile D, Mandelbaum J, Belaisch‐ALLART J, Vekemans M. Incidence of sex chromosome abnormalities in spermatozoa from patients entering an IVF or ICSI protocol Acta Obstetricia Et Gynecologica Scandinavica. 77: 191-197. DOI: 10.1034/J.1600-0412.1998.770212.X |
0.315 |
|
| 1998 |
Storeng RT, Plachot M, Theophile D, Mandelbaum J, Belaisch-Allart J, Vekemans M. Incidence of Sex Chromosome Abnormalities in Spermatozoa From Patients Entering an IVF or ICSI Protocol The Journal of Urology. 160: 1941-1942. DOI: 10.1016/S0022-5347(01)62467-4 |
0.311 |
|
| 1997 |
Lonlay-Debeney Pd, Cormier-Daire V, Amiel J, Abadie V, Odent S, Paupe A, Couderc S, Tellier AL, Bonnet D, Prieur M, Vekemans M, Munnich A, Lyonnet S. Features of DiGeorge syndrome and CHARGE association in five patients. Journal of Medical Genetics. 34: 986-989. PMID 9429139 DOI: 10.1136/Jmg.34.12.986 |
0.384 |
|
| 1997 |
Mégarbané A, Souraty N, Prieur M, Theophile D, Chédid P, Augé J, Vekemans M. Interstitial duplication of the short arm of chromosome 2: report of a new case and review. Journal of Medical Genetics. 34: 783-786. PMID 9321771 DOI: 10.1136/Jmg.34.9.783 |
0.344 |
|
| 1997 |
Delezoide AL, Lasselin-Benoist C, Legeai-Mallet L, Brice P, Senée V, Yayon A, Munnich A, Vekemans M, Bonaventure J. Abnormal FGFR 3 expression in cartilage of thanatophoric dysplasia fetuses. Human Molecular Genetics. 6: 1899-906. PMID 9302269 DOI: 10.1093/Hmg/6.11.1899 |
0.402 |
|
| 1997 |
Cormier-Daire V, Merrer ML, Gigarel N, Morichon N, Prieur M, Lyonnet S, Vekemans M, Munnich A. Prezygotic origin of the isochromosome 12p in Pallister‐Killian syndrome American Journal of Medical Genetics. 69: 166-168. PMID 9056554 DOI: 10.1002/(Sici)1096-8628(19970317)69:2<166::Aid-Ajmg9>3.0.Co;2-N |
0.363 |
|
| 1997 |
Der Kaloustian VM, Kleijer W, Booth A, Auerbach AD, Mazer B, Elliott AM, Abish S, Usher R, Watters G, Vekemans M, Eydoux P. Possible new variant of Nijmegen breakage syndrome. American Journal of Medical Genetics. 65: 21-6. PMID 8914736 DOI: 10.1002/(Sici)1096-8628(19961002)65:1<21::Aid-Ajmg3>3.0.Co;2-0 |
0.402 |
|
| 1997 |
Rack KA, Cornélis F, Radford-Weiss I, Bernheim A, Harrison CJ, Hermine O, Prieur M, Vekemans M, Macintyre EA. A chromosome 14q11/TCR alpha/delta specific yeast artificial chromosome improves the detection rate and characterization of chromosome abnormalities in T-lymphoproliferative disorders. Blood. 90: 1233-1240. DOI: 10.1182/Blood.V90.3.1233.1233_1233_1240 |
0.332 |
|
| 1996 |
Satge D, Le Tourneau A, Verger JP, Lefort S, Geneix A, Malet P, Diebold J, Vekemans M. A case report of Down syndrome and centroblastic lymphoma. Pathology, Research and Practice. 192: 1266-9. PMID 9182298 DOI: 10.1016/S0344-0338(96)80165-8 |
0.322 |
|
| 1996 |
Sahly I, Abitbol M, Laurent C, Ghazi I, Ribeaudeau F, Vekemans M, Dufier J. Identification of a novel PAX6 gene mutation in an Aniridia patient Human Mutation. 7: 377-377. PMID 8723697 DOI: 10.1002/(Sici)1098-1004(1996)7:4<377::Aid-Humu19>3.0.Co;2-# |
0.389 |
|
| 1996 |
Satge D, Jacobsen GK, Cessot F, Raffi F, Vekemans M. A Fetus with Down Syndrome and Intratubular Germ Cell Neoplasia Pediatric Pathology & Laboratory Medicine. 16: 107-112. DOI: 10.1080/15513819609168666 |
0.364 |
|
| 1995 |
Delezoide AL, Vekemans M. Waardenburg syndrome in man and splotch mutants in the mouse: a paradigm of the usefulness of linkage and synteny homologies in mouse and man for the genetic analysis of human congenital malformations. Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie. 48: 335-9. PMID 7858167 DOI: 10.1016/0753-3322(94)90047-7 |
0.372 |
|
| 1995 |
Cormier-Daire V, Iserin L, Théophile D, Sidi D, Vervel C, Padovani JP, Vekemans M, Munnich A, Lyonnet S. Upper limb malformations in DiGeorge syndrome. American Journal of Medical Genetics. 56: 39-41. PMID 7747784 DOI: 10.1002/Ajmg.1320560111 |
0.421 |
|
| 1995 |
Chitayat D, Ruvalcaba RHA, Babul R, Teshima IE, Posnick JC, Vekemans MJJ, Scarpelli H, Thuline H. Syndrome of proximal interstitial deletion 4p15: report of three cases and review of the literature. American Journal of Medical Genetics. 55: 147-154. PMID 7717413 DOI: 10.1002/Ajmg.1320550203 |
0.304 |
|
| 1994 |
Epstein DJ, Bardeesy N, Vidal S, Malo D, Weith A, Vekemans M, Gros P. Characterization of a Region-Specific Library of Microclones in the Vicinity of the Bcg and splotch Loci on Mouse Chromosome 1 Genomics. 19: 163-166. PMID 8188220 DOI: 10.1006/Geno.1994.1029 |
0.348 |
|
| 1993 |
Morichon‐Delvallez N, Mussat P, Dumez Y, Vekemans M. Trisomy 15 in chorionic villi and Prader-Willi syndrome at birth. Prenatal Diagnosis. 13: 307-308. PMID 8506232 DOI: 10.1002/Pd.1970130410 |
0.375 |
|
| 1993 |
Abitbol M, Menini C, Delezoide A, Rhyner T, Vekemans M, Mallet J. Nucleus basalis magnocellularis and hippocampus are the major sites of FMR-1 expression in the human fetal brain. Nature Genetics. 4: 147-153. PMID 8348153 DOI: 10.1038/Ng0693-147 |
0.367 |
|
| 1993 |
Morichon-Delvallez N, Delezoide AL, Vekemans M. Holoprosencephaly and sacral agenesis in a fetus with a terminal deletion 7q36-->7qter. Journal of Medical Genetics. 30: 521-524. PMID 8326499 DOI: 10.1136/Jmg.30.6.521 |
0.36 |
|
| 1993 |
Chitayat D, Stalker HJ, Vekemans M, Delneste D, Azouz EM. Phocomelia, oligodactyly, and acrania: the Schinzel-Phocomelia syndrome. American Journal of Medical Genetics. 45: 297-9. PMID 8123061 DOI: 10.1002/Ajmg.1320450304 |
0.367 |
|
| 1992 |
Zahed L, Murer-Orlando M, Vekemans M. In situ hybridization studies for the detection of common aneuploidies in CVS. Prenatal Diagnosis. 12: 483-493. PMID 1513754 DOI: 10.1002/Pd.1970120603 |
0.337 |
|
| 1992 |
Kieran MW, Vekemans M, Robb LJ, Sinsky A, Outerbridge EW, Kaloustian VMD. Portohepatic shunt in a Down syndrome patient with an interchange trisomy 47,XY,-2,+der(2),+der(21)t(2;21)(p13;q22.1)mat. American Journal of Medical Genetics. 44: 288-292. PMID 1488975 DOI: 10.1002/Ajmg.1320440305 |
0.381 |
|
| 1991 |
Halal F, Vekemans M, Chitayat D. Interstitial tandem direct duplication of the long arm of chromosome 4 (q23‐q27) and possible assignment of the structural gene encoding human aspartylglucosaminidase to this segment American Journal of Medical Genetics. 39: 418-421. PMID 1877620 DOI: 10.1002/Ajmg.1320390412 |
0.367 |
|
| 1991 |
Epstein DJ, Vekemans M, Gros P. splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3 Cell. 67: 767-774. PMID 1682057 DOI: 10.1016/0092-8674(91)90071-6 |
0.309 |
|
| 1990 |
Chen MF, Vekemans M, Meagher-Villemure K, Outerbridge E, Fraser FC, Der Kaloustian VM. Aminopterin-like syndrome sine aminopterin associated with translocation involving chromosomes 5 and 10. American Journal of Medical Genetics. 37: 478-81. PMID 2260592 DOI: 10.1002/Ajmg.1320370411 |
0.546 |
|
| 1990 |
Halal F, Vekemans M. Ring chromosome 4 in a child with duodenal atresia. American Journal of Medical Genetics. 37: 79-82. PMID 2240048 DOI: 10.1002/Ajmg.1320370118 |
0.354 |
|
| 1990 |
Halal F, Vekemans M, Kaplan P, Zeesman S. Distal deletion of chromosome 1q in an adult American Journal of Medical Genetics. 35: 379-382. PMID 2137964 DOI: 10.1002/Ajmg.1320350313 |
0.321 |
|
| 1989 |
Braekeleer MD, Vekemans M. A t(3;5) in blastic phase of a Philadelphia chromosome-negative chronic myeloid leukemia Cancer Genetics and Cytogenetics. 37: 163-168. PMID 2702617 DOI: 10.1016/0165-4608(89)90045-9 |
0.302 |
|
| 1989 |
Halal F, Vekemans M, Kaloustian VMD. A presumptive translocation 1p;2q resulting in duplication 1p and deletion 2q. American Journal of Medical Genetics. 32: 376-379. PMID 2658588 DOI: 10.1002/Ajmg.1320320322 |
0.357 |
|
| 1986 |
Preus M, Vekemans M, Kaplan P. Diagnosis of chromosome 3 duplication q23----qter, deletion p25----pter in a patient with the C (trigonocephaly) syndrome. American Journal of Medical Genetics. 23: 935-943. PMID 3515940 DOI: 10.1002/Ajmg.1320230409 |
0.398 |
|
| 1985 |
Preus M, Aymé S, Kaplan P, Vekemans M, Opitz JM, Reynolds JF. A taxonomic approach to the del(4p) phenotype. American Journal of Medical Genetics. 21: 337-345. PMID 4014315 DOI: 10.1002/Ajmg.1320210216 |
0.38 |
|
| 1982 |
Vekemans M, Fraser FC. Susceptibility to cleft palate and the major histocompatibility complex (H-2) in the mouse. Teratology. 25: 267-70. PMID 7101203 DOI: 10.1002/tera.1420250216 |
0.369 |
|
| 1982 |
Esseltine DW, Vekemans M, Seemayer T, Reece E, Gordon J, Whitehead VM. Significance of a (4;11) translocation in acute lymphoblastic leukemia. Cancer. 50: 503-506. PMID 6953990 DOI: 10.1002/1097-0142(19820801)50:3<503::Aid-Cncr2820500320>3.0.Co;2-5 |
0.312 |
|
| 1981 |
Vekemans M, Taylor BA, Fraser FC. The susceptibility to cortisone-induced cleft palate of recombinant inbred strains of mice: lack of association with the H-2 haplotype. Genetical Research. 38: 327-31. PMID 7333460 |
0.364 |
|
| 1979 |
Vekemans M, Fraser FC. Stage of palate closure as one indication of "liability" to cleft palate. American Journal of Medical Genetics. 4: 95-102. PMID 495657 DOI: 10.1002/ajmg.1320040111 |
0.388 |
|
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