135 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2020 Tessier A, Boutaud L, Bruel AL, Thauvin-Robinet C, Roth P, Malan V, Beaujard MP, Achaiaa A, de Oliveira J, Steffann J, Encha-Razavi F, Faivre L, Bessières B, Attié-Bitach T. Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype? Clinical Genetics. 98: 620-621. PMID 32926417 DOI: 10.1111/Cge.13840  0.48
2020 Lefebvre M, Bruel AL, Tisserant E, Bourgon N, Duffourd Y, Collardeau-Frachon S, Attie-Bitach T, Kuentz P, Assoum M, Schaefer E, El Chehadeh S, Antal MC, Kremer V, Girard-Lemaitre F, Mandel JL, et al. Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations. Journal of Medical Genetics. PMID 32732226 DOI: 10.1136/Jmedgenet-2020-106867  0.44
2020 Dubucs C, Chassaing N, Sergi C, Aubert-Mucca M, Attié-Bitach T, Lacombe D, Thauvin-Robinet C, Arpin S, Perez MJ, Cabrol C, Chen CP, Aziza J, Colin E, Martinovic J, Calvas P, et al. Re-focusing on Agnathia-Otocephaly complex. Clinical Oral Investigations. PMID 32643087 DOI: 10.1007/S00784-020-03443-W  0.92
2020 Abadie V, Hamiaux P, Ragot S, Legendre M, Malecot G, Burtin A, Attie-Bitach T, Lyonnet S, Bilan F, Gilbert-Dussardier B, Vaivre-Douret L. Should autism spectrum disorder be considered part of CHARGE syndrome? A cross-sectional study of 46 patients. Orphanet Journal of Rare Diseases. 15: 136. PMID 32493418 DOI: 10.1186/S13023-020-01421-9  0.76
2020 Le TL, Sribudiani Y, Dong X, Huber C, Kois C, Baujat G, Gordon CT, Mayne V, Galmiche L, Serre V, Goudin N, Zarhrate M, Bole-Feysot C, Masson C, Nitschké P, et al. Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling. American Journal of Human Genetics. PMID 32413283 DOI: 10.1016/J.Ajhg.2020.04.010  0.92
2020 Lamouroux A, Attie-Bitach T, Martinovic J, Leruez-Ville M, Ville Y. Evidence for and against vertical transmission for severe acute respiratory syndrome coronavirus 2. American Journal of Obstetrics and Gynecology. 223: 91.e1-91.e4. PMID 32376317 DOI: 10.1016/J.Ajog.2020.04.039  0.44
2019 Duarte K, Heide S, Poëa-Guyon S, Rousseau V, Depienne C, Rastetter A, Nava C, Attié-Bitach T, Razavi F, Martinovic J, Moutard ML, Cherfils J, Mignot C, Héron D, Barnier JV. PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migration. Neurobiology of Disease. 136: 104709. PMID 31843706 DOI: 10.1016/J.Nbd.2019.104709  0.4
2019 Gorokhova S, Mortreux J, Afenjar A, Attie-Bitach T, Blanluet M, Cormier-Daire V, Guerrot AM, Lebre AS, Malan V, Nicolas G, Rondeau S, Philip N, Saugier-Veber P, Badens C, Missirian C. Significant contribution of intragenic deletions to ARID1B mutation spectrum. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 31105273 DOI: 10.1038/S41436-019-0546-6  0.4
2019 Van-Gils J, Naudion S, Toutain J, Lancelot G, Attié-Bitach T, Blesson S, Demeer B, Doray B, Gonzales M, Martinovic J, Whalen S, Taine L, Arveiler B, Lacombe D, Fergelot P. Fetal phenotype of Rubinstein-Taybi syndrome caused by CREBBP mutations. Clinical Genetics. 95: 420-426. PMID 30633342 DOI: 10.1111/Cge.13493  0.4
2019 Mary L, Chennen K, Stoetzel C, Antin M, Leuvrey AS, Nourisson E, Alanio-Detton E, Antal MC, Attie-Bitach T, Bouvagnet P, Bouvier R, Buenerd A, Clémenson A, Devisme L, Gasser B, et al. Bardet-Biedl syndrome - tantenatal presentation of 45 fetuses with biallelic pathogenic variants in known BBS genes. Clinical Genetics. PMID 30614526 DOI: 10.1111/Cge.13500  0.4
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  0.92
2018 Putoux A, Baas D, Paschaki M, Morlé L, Maire C, Attié-Bitach T, Thomas S, Durand B. Altered GLI3 and FGF8 signaling underlies Acrocallosal syndrome phenotypes in Kif7 depleted mice. Human Molecular Genetics. PMID 30445565 DOI: 10.1093/Hmg/Ddy392  0.92
2018 Gardner JF, Cushion TD, Niotakis G, Olson HE, Grant PE, Scott RH, Stoodley N, Cohen JS, Naidu S, Attie-Bitach T, Bonnières M, Boutaud L, Encha-Razavi F, Palmer-Smith SM, Mugalaasi H, et al. Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation. Brain Sciences. 8. PMID 30087272 DOI: 10.3390/Brainsci8080145  0.44
2018 Barny I, Perrault I, Michel C, Soussan M, Goudin N, Rio M, Thomas S, Attié-Bitach T, Hamel C, Dollfus H, Kaplan J, Rozet JM, Gerard X. Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease. Human Molecular Genetics. PMID 29771326 DOI: 10.1093/Hmg/Ddy179  0.92
2018 Bonnard C, Shboul M, Tonekaboni SH, Ng AYJ, Tohari S, Ghosh K, Lai A, Lim JY, Tan EC, Devisme L, Stichelbout M, Alkindi A, Banu N, Yüksel Z, Ghoumid J, et al. Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome. European Journal of Medical Genetics. PMID 29605658 DOI: 10.1016/J.Ejmg.2018.03.012  0.64
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  0.92
2018 Lefebvre M, Dieux-Coeslier A, Baujat G, Schaefer E, Judith SO, Bazin A, Pinson L, Attie-Bitach T, Baumann C, Fradin M, Pierquin G, Julia S, Quélin C, Doray B, Berg S, et al. Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients. Journal of Medical Genetics. PMID 29459493 DOI: 10.1136/Jmedgenet-2017-104939  0.36
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  0.92
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  0.92
2017 Legendre M, Rodriguez-Ballesteros M, Rossi M, Abadie V, Amiel J, Revencu N, Blanchet P, Brioude F, Delrue MA, Doubaj Y, Sefiani A, Francannet C, Holder-Espinasse M, Jouk PS, Julia S, et al. CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays. European Journal of Human Genetics : Ejhg. PMID 29255276 DOI: 10.1038/S41431-017-0007-0  0.76
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, 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  0.92
2017 Legendre M, Abadie V, Attié-Bitach T, Philip N, Busa T, Bonneau D, Colin E, Dollfus H, Lacombe D, Toutain A, Blesson S, Julia S, Martin-Coignard D, Geneviève D, Leheup B, et al. Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 175: 417-430. PMID 29178447 DOI: 10.1002/Ajmg.C.31591  0.92
2017 Cavallin M, Rujano MA, Bednarek N, Medina-Cano D, Bernabe Gelot A, Drunat S, Maillard C, Garfa-Traore M, Bole C, Nitschké P, Beneteau C, Besnard T, Cogné B, Eveillard M, Kuster A, et al. WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells. Brain : a Journal of Neurology. 140: 2597-2609. PMID 28969387 DOI: 10.1093/Brain/Awx218  0.76
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  0.92
2017 Bruel AL, Franco B, Duffourd Y, Thevenon J, Jego L, Lopez E, Deleuze JF, Doummar D, Giles RH, Johnson CA, Huynen MA, Chevrier V, Burglen L, Morleo M, Desguerres I, et al. Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. Journal of Medical Genetics. PMID 28289185 DOI: 10.1136/Jmedgenet-2016-104436  0.44
2017 Depienne C, Nava C, Keren B, Heide S, Rastetter A, Passemard S, Chantot-Bastaraud S, Moutard ML, Agrawal PB, VanNoy G, Stoler JM, Amor DJ, Billette de Villemeur T, Doummar D, Alby C, et al. Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU. Human Genetics. PMID 28283832 DOI: 10.1007/S00439-017-1772-0  0.48
2017 Kuentz P, St-Onge J, Duffourd Y, Courcet JB, Carmignac V, Jouan T, Sorlin A, Abasq-Thomas C, Albuisson J, Amiel J, Amram D, Arpin S, Attie-Bitach T, Bahi-Buisson N, Barbarot S, et al. Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 28151489 DOI: 10.1038/Gim.2016.220  0.44
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  0.92
2017 Leroy C, Encha-Razavi F, Maurin M, Mechler C, Kuleva M, Attié-Bitach T, Malan V, Romana S. Duplication 8p11,23p11.21 impliquant le gène FGFR1 chez un fœtus présentant une agénésie complète du corps calleux par défaut de commissuration Morphologie. 101: 250. DOI: 10.1016/J.Morpho.2017.07.027  0.44
2017 Heide S, Villemeur TBd, Nava C, Rastetter A, Mignot C, Depienne C, Keren B, Chantot-Bastaraud S, Attié-Bitach T, Boutaud L, Afenjar A, Whalen S, Portes Vd, Faivre L, Toutain A, et al. Clinical, chromosomal and molecular characterization of a cohort of 273 patients with agenesis of the corpus callosum European Journal of Paediatric Neurology. 21. DOI: 10.1016/J.Ejpn.2017.04.859  0.32
2016 Mignot C, Moutard ML, Rastetter A, Boutaud L, Heide S, Billette T, Doummar D, Garel C, Afenjar A, Jacquette A, Lacombe D, Verloes A, Bole-Feysot C, Nitschké P, Masson C, et al. ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability. Brain : a Journal of Neurology. PMID 27474218 DOI: 10.1093/Brain/Aww181  0.48
2016 Grampa V, Delous M, Zaidan M, Odye G, Thomas S, Elkhartoufi N, Filhol E, Niel O, Silbermann F, Lebreton C, Collardeau-Frachon S, Rouvet I, Alessandri JL, Devisme L, Dieux-Coeslier A, et al. Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation. Plos Genetics. 12: e1005894. PMID 26967905 DOI: 10.1371/Journal.Pgen.1005894  0.52
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  0.76
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  0.92
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  0.92
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  0.92
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  0.92
2015 Lambacher NJ, Bruel AL, van Dam TJ, Szymańska K, Slaats GG, Kuhns S, McManus GJ, Kennedy JE, Gaff K, Wu KM, van der Lee R, Burglen L, Doummar D, Rivière JB, Faivre L, et al. TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome. Nature Cell Biology. PMID 26595381 DOI: 10.1038/Ncb3273  0.52
2015 Chafai-Elalaoui S, Chalon M, Elkhartoufi N, Kriouele Y, Mansouri M, Attié-Bitach T, Sefiani A, Baala L. A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report. Journal of Medical Case Reports. 9: 254. PMID 26541515 DOI: 10.1186/S13256-015-0732-3  0.92
2015 Perrault I, Halbritter J, Porath JD, Gérard X, Braun DA, Gee HY, Fathy HM, Saunier S, Cormier-Daire V, Thomas S, Attié-Bitach T, Boddaert N, Taschner M, Schueler M, Lorentzen E, et al. IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype. Journal of Medical Genetics. 52: 657-65. PMID 26275418 DOI: 10.1136/Jmedgenet-2014-102838  0.92
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, 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  0.52
2015 Roberson EC, Dowdle WE, Ozanturk A, Garcia-Gonzalo FR, Li C, Halbritter J, Elkhartoufi N, Porath JD, Cope H, Ashley-Koch A, Gregory S, Thomas S, Sayer JA, Saunier S, Otto EA, et al. TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone. The Journal of Cell Biology. 209: 129-42. PMID 25869670 DOI: 10.1083/Jcb.201411087  0.92
2015 Vincent M, Geneviève D, Ostertag A, Marlin S, Lacombe D, Martin-Coignard D, Coubes C, David A, Lyonnet S, Vilain C, Dieux-Coeslier A, Manouvrier S, Isidor B, Jacquemont ML, Julia S, et al. Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 25790162 DOI: 10.1038/Gim.2015.29  0.52
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  0.92
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, 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  0.92
2015 Grampa V, Delous M, Silbermann F, Oyde G, Krug P, Filhol E, Alessandri J, Sigaudy S, Bouvier R, Zabot M, Antignac C, Gubler M, Attié-Bitach T, Benmerah A, Jeanpierre C, et al. A study of new NEK8 mutations in patients with severe renal cystic hypodysplasia and ciliopathy-associated defects Cilia. 4: 54. DOI: 10.1186/2046-2530-4-S1-P54  0.32
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  0.92
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, 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  0.92
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, 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  0.92
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, 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  0.52
2014 Laquérriere A, Maluenda J, Camus A, Fontenas L, Dieterich K, Nolent F, Zhou J, Monnier N, Latour P, Gentil D, Héron D, Desguerres I, Landrieu P, Beneteau C, Delaporte B, et al. Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. Human Molecular Genetics. 23: 2279-89. PMID 24319099 DOI: 10.1093/Hmg/Ddt618  0.92
2014 Lopez E, Thauvin-Robinet C, Reversade B, Khartoufi NE, Devisme L, Holder M, Ansart-Franquet H, Avila M, Lacombe D, Kleinfinger P, Kaori I, Takanashi J, Le Merrer M, Martinovic J, Noël C, et al. C5orf42 is the major gene responsible for OFD syndrome type VI. Human Genetics. 133: 367-77. PMID 24178751 DOI: 10.1007/S00439-013-1385-1  0.92
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, 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  0.92
2013 Molin A, Benoist G, Jeanne-Pasquier C, Elkartoufi N, Litzer J, Decamp M, Gruchy N, Durand-Malbruny M, Begorre M, Attie-Bitach T, Leporrier N. 12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4 European Journal of Medical Genetics. 56: 580-583. PMID 23954617 DOI: 10.1016/J.Ejmg.2013.08.002  0.52
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  0.52
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  0.76
2013 Madariaga L, Morinière V, Jeanpierre C, Bouvier R, Loget P, Martinovic J, Dechelotte P, Leporrier N, Thauvin-Robinet C, Jensen UB, Gaillard D, Mathieu M, Turlin B, Attie-Bitach T, Salomon R, et al. Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes. Clinical Journal of the American Society of Nephrology : Cjasn. 8: 1179-87. PMID 23539225 DOI: 10.2215/Cjn.10221012  0.52
2013 Darmency-Stamboul V, Burglen L, Lopez E, Mejean N, Dean J, Franco B, Rodriguez D, Lacombe D, Desguerres I, Cormier-Daire V, Doray B, Pasquier L, Gonzales M, Pastore M, Crenshaw ML, et al. Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome. European Journal of Medical Genetics. 56: 301-8. PMID 23523602 DOI: 10.1016/J.Ejmg.2013.03.004  0.52
2013 Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, et al. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. European Journal of Human Genetics : Ejhg. 21: 1074-8. PMID 23386033 DOI: 10.1038/Ejhg.2012.305  0.52
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, 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  0.52
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, et al. EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia. Journal of Medical Genetics. 49: 737-46. PMID 23188108 DOI: 10.1136/Jmedgenet-2012-101173  0.92
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, 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  0.52
2012 Aguilar A, Meunier A, Strehl L, Martinovic J, Bonniere M, Attie-Bitach T, Encha-Razavi F, Spassky N. Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome. Proceedings of the National Academy of Sciences of the United States of America. 109: 16951-6. PMID 23027964 DOI: 10.1073/Pnas.1201408109  0.52
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, 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  0.52
2012 McIntyre JC, Davis EE, Joiner A, Williams CL, Tsai IC, Jenkins PM, McEwen DP, Zhang L, Escobado J, Thomas S, Szymanska K, Johnson CA, Beales PL, Green ED, Mullikin JC, et al. Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model. Nature Medicine. 18: 1423-8. PMID 22941275 DOI: 10.1038/Nm.2860  0.52
2012 Brassier A, Ottolenghi C, Boddaert N, Sonigo P, Attié-Bitach T, Millischer-Bellaiche A-, Baujat G, Cormier-Daire V, Valayannopoulos V, Seta N, Piraud M, Chadefaux-Vekemans B, Vianey-Saban C, Froissart R, Lonlay Pd. Maladies héréditaires du métabolisme : signes anténatals et diagnostic biologique. Archives De Pediatrie. 19: 959-969. PMID 22884749 DOI: 10.1016/J.Arcped.2012.06.002  0.36
2012 Baral V, Chaoui A, Watanabe Y, Goossens M, Attie-Bitach T, Marlin S, Pingault V, Bondurand N. Screening of MITF and SOX10 regulatory regions in Waardenburg syndrome type 2. Plos One. 7: e41927. PMID 22848661 DOI: 10.1371/Journal.Pone.0041927  0.44
2012 Devisme L, Bouchet C, Gonzalès M, Alanio E, Bazin A, Bessières B, Bigi N, Blanchet P, Bonneau D, Bonnières M, Bucourt M, Carles D, Clarisse B, Delahaye S, Fallet-Bianco C, et al. Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. Brain : a Journal of Neurology. 135: 469-82. PMID 22323514 DOI: 10.1093/Brain/Awr357  0.52
2012 Lee JH, Silhavy JL, Lee JE, Al-Gazali L, Thomas S, Davis EE, Bielas SL, Hill KJ, Iannicelli M, Brancati F, Gabriel SB, Russ C, Logan CV, Sharif SM, Bennett CP, et al. Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. Science (New York, N.Y.). 335: 966-9. PMID 22282472 DOI: 10.1126/Science.1213506  0.52
2012 Lee JE, Silhavy JL, Zaki MS, Schroth J, Bielas SL, Marsh SE, Olvera J, Brancati F, Iannicelli M, Ikegami K, Schlossman AM, Merriman B, Attié-Bitach T, Logan CV, Glass IA, et al. CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. Nature Genetics. 44: 193-9. PMID 22246503 DOI: 10.1038/Ng.1078  0.52
2012 Valayannopoulos V, Michot C, Rodriguez D, Hubert L, Saillour Y, Labrune P, de Laveaucoupet J, Brunelle F, Amiel J, Lyonnet S, Enza-Razavi F, Attié-Bitach T, Lacombe D, Bahi-Buisson N, Desguerre I, et al. Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4. Brain : a Journal of Neurology. 135: e199; author reply e. PMID 21609947 DOI: 10.1093/Brain/Awr108  0.92
2012 Putoux A, Attie-Bitach T, Martinovic J, Gubler MC. Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney. Pediatric Nephrology (Berlin, Germany). 27: 7-15. PMID 21246219 DOI: 10.1007/S00467-010-1751-3  0.52
2011 Avila M, Gigot N, Aral B, Callier P, Gautier E, Thevenon J, Pasquier L, Lopez E, Gueneau L, Duplomb L, Goldenberg A, Baumann C, Cormier V, Marlin S, Masurel-Paulet A, et al. GLI3 is rarely implicated in OFD syndromes with midline abnormalities. Human Mutation. 32: 1332-3. PMID 21796731 DOI: 10.1002/Humu.21570  0.52
2011 Dowdle WE, Robinson JF, Kneist A, Sirerol-Piquer MS, Frints SG, Corbit KC, Zaghloul NA, Zaghloul NA, van Lijnschoten G, Mulders L, Verver DE, Zerres K, Reed RR, Attié-Bitach T, Johnson CA, et al. Disruption of a ciliary B9 protein complex causes Meckel syndrome. American Journal of Human Genetics. 89: 94-110. PMID 21763481 DOI: 10.1016/j.ajhg.2011.06.003  0.52
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, et al. KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nature Genetics. 43: 601-6. PMID 21552264 DOI: 10.1038/Ng.826  0.52
2011 Jeanpierre C, Macé G, Parisot M, Morinière V, Pawtowsky A, Benabou M, Martinovic J, Amiel J, Attié-Bitach T, Delezoide AL, Loget P, Blanchet P, Gaillard D, Gonzales M, Carpentier W, et al. RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects. Journal of Medical Genetics. 48: 497-504. PMID 21490379 DOI: 10.1136/Jmg.2010.088526  0.52
2011 Thauvin-Robinet C, Lesca G, Aral B, Gigot N, Lambert S, Gueneau L, Macca M, Franco B, Huet F, Zabot MT, Attié-Bitach T, Attia-Sobol J, Faivre L. Cerebral dysgenesis does not exclude OFD I syndrome. American Journal of Medical Genetics. Part A. 155: 455-7. PMID 21271673 DOI: 10.1002/Ajmg.A.33812  0.52
2011 Davis EE, Zhang Q, Liu Q, Diplas BH, Davey LM, Hartley J, Stoetzel C, Szymanska K, Ramaswami G, Logan CV, Muzny DM, Young AC, Wheeler DA, Cruz P, Morgan M, et al. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nature Genetics. 43: 189-96. PMID 21258341 DOI: 10.1038/Ng.756  0.52
2010 Poirier K, Saillour Y, Bahi-Buisson N, Jaglin XH, Fallet-Bianco C, Nabbout R, Castelnau-Ptakhine L, Roubertie A, Attie-Bitach T, Desguerre I, Genevieve D, Barnerias C, Keren B, Lebrun N, Boddaert N, et al. Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. Human Molecular Genetics. 19: 4462-73. PMID 20829227 DOI: 10.1093/Hmg/Ddq377  0.36
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, 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  0.52
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, 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  0.52
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  0.92
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, 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  0.52
2010 Boddaert N, Desguerre I, Bahi-Buisson N, Romano S, Valayannopoulos V, Saillour Y, Seidenwurm D, Grevent D, Berteloot L, Lebre AS, Zilbovicius M, Puget S, Salomon R, Attie-Bitach T, Munnich A, et al. Posterior fossa imaging in 158 children with ataxia. Journal of Neuroradiology. Journal De Neuroradiologie. 37: 220-30. PMID 20378176 DOI: 10.1016/J.Neurad.2009.12.009  0.76
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  0.52
2010 Iannicelli M, Brancati F, Mougou-Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, Travaglini L, Gomes C, Ardissino GL, Bertini E, Boltshauser E, Castorina P, D'Arrigo S, Fischetto R, Leroy B, et al. Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. Human Mutation. 31: E1319-31. PMID 20232449 DOI: 10.1002/Humu.21239  0.52
2009 Andrieux J, Dubourg C, Rio M, Attie-Bitach T, Delaby E, Mathieu M, Journel H, Copin H, Blondeel E, Doco-Fenzy M, Landais E, Delobel B, Odent S, Manouvrier-Hanu S, Holder-Espinasse M. Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGH. American Journal of Medical Genetics. Part A. 149: 2813-9. PMID 19921647 DOI: 10.1002/Ajmg.A.33097  0.32
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, 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  0.52
2009 Travaglini L, Brancati F, Attie-Bitach T, Audollent S, Bertini E, Kaplan J, Perrault I, Iannicelli M, Mancuso B, Rigoli L, Rozet JM, Swistun D, Tolentino J, Dallapiccola B, Gleeson JG, et al. Expanding CEP290 mutational spectrum in ciliopathies. American Journal of Medical Genetics. Part A. 149: 2173-80. PMID 19764032 DOI: 10.1002/Ajmg.A.33025  0.52
2009 de Pontual L, Zaghloul NA, Thomas S, Davis EE, McGaughey DM, Dollfus H, Baumann C, Bessling SL, Babarit C, Pelet A, Gascue C, Beales P, Munnich A, Lyonnet S, Etchevers H, et al. Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease. Proceedings of the National Academy of Sciences of the United States of America. 106: 13921-6. PMID 19666486 DOI: 10.1073/Pnas.0901219106  0.52
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  0.52
2009 Khanna H, Davis EE, Murga-Zamalloa CA, Estrada-Cuzcano A, Lopez I, den Hollander AI, Zonneveld MN, Othman MI, Waseem N, Chakarova CF, Maubaret C, Diaz-Font A, MacDonald I, Muzny DM, Wheeler DA, et al. A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nature Genetics. 41: 739-45. PMID 19430481 DOI: 10.1038/Ng.366  0.52
2009 Chassaing N, Golzio C, Odent S, Lequeux L, Vigouroux A, Martinovic-Bouriel J, Tiziano FD, Masini L, Piro F, Maragliano G, Delezoide AL, Attié-Bitach T, Manouvrier-Hanu S, Etchevers HC, Calvas P. Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia. Human Mutation. 30: E673-81. PMID 19309693 DOI: 10.1002/Humu.21023  0.92
2009 Dimitrov A, Paupe V, Gueudry C, Sibarita JB, Raposo G, Vielemeyer O, Gilbert T, Csaba Z, Attie-Bitach T, Cormier-Daire V, Gressens P, Rustin P, Perez F, El Ghouzzi V. The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus. Human Molecular Genetics. 18: 440-53. PMID 18996921 DOI: 10.1093/Hmg/Ddn371  0.52
2008 Cantagrel V, Silhavy JL, Bielas SL, Swistun D, Marsh SE, Bertrand JY, Audollent S, Attié-Bitach T, Holden KR, Dobyns WB, Traver D, Al-Gazali L, Ali BR, Lindner TH, Caspary T, et al. Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. American Journal of Human Genetics. 83: 170-9. PMID 18674751 DOI: 10.1016/J.Ajhg.2008.06.023  0.52
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  0.52
2007 Bondurand N, Dastot-Le Moal F, Stanchina L, Collot N, Baral V, Marlin S, Attie-Bitach T, Giurgea I, Skopinski L, Reardon W, Toutain A, Sarda P, Echaieb A, Lackmy-Port-Lis M, Touraine R, et al. Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. American Journal of Human Genetics. 81: 1169-85. PMID 17999358 DOI: 10.1086/522090  0.44
2007 Delahaye A, Sznajer Y, Lyonnet S, Elmaleh-Bergès M, Delpierre I, Audollent S, Wiener-Vacher S, Mansbach A, Amiel J, Baumann C, Bremond-Gignac D, Attié-Bitach T, Verloes A, Sanlaville D. Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability Clinical Genetics. 72: 112-121. PMID 17661815 DOI: 10.1111/J.1399-0004.2007.00821.X  0.92
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, 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  0.52
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, 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  0.52
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  0.92
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, 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  0.92
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, 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  0.52
2007 de Pontual L, Pelet A, Clement-Ziza M, Trochet D, Antonarakis SE, Attie-Bitach T, Beales PL, Blouin JL, Dastot-Le Moal F, Dollfus H, Goossens M, Katsanis N, Touraine R, Feingold J, Munnich A, et al. Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease. Human Mutation. 28: 790-6. PMID 17397038 DOI: 10.1002/Humu.20517  0.52
2007 Baala L, Briault S, Etchevers HC, Laumonnier F, Natiq A, Amiel J, Boddaert N, Picard C, Sbiti A, Asermouh A, Attié-Bitach T, Encha-Razavi F, Munnich A, Sefiani A, Lyonnet S. Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis. Nature Genetics. 39: 454-6. PMID 17353897 DOI: 10.1038/Ng1993  0.52
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  0.32
2007 Dawe HR, Smith UM, Cullinane AR, Gerrelli D, Cox P, Badano JL, Blair-Reid S, Sriram N, Katsanis N, Attie-Bitach T, Afford SC, Copp AJ, Kelly DA, Gull K, Johnson CA. The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. Human Molecular Genetics. 16: 173-86. PMID 17185389 DOI: 10.1093/Hmg/Ddl459  0.52
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, 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  0.92
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  0.92
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  0.76
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  0.92
2006 Smith UM, Consugar M, Tee LJ, McKee BM, Maina EN, Whelan S, Morgan NV, Goranson E, Gissen P, Lilliquist S, Aligianis IA, Ward CJ, Pasha S, Punyashthiti R, Malik Sharif S, et al. The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. Nature Genetics. 38: 191-6. PMID 16415887 DOI: 10.1038/Ng1713  0.52
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  0.52
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, 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  0.48
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  0.92
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  0.76
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  0.56
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  0.92
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  0.56
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  0.92
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  0.92
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  0.92
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  0.6
2002 Chauvet V, Qian F, Boute N, Cai Y, Phakdeekitacharoen B, Onuchic LF, Attié-Bitach T, Guicharnaud L, Devuyst O, Germino GG, Gubler MC. Expression of PKD1 and PKD2 transcripts and proteins in human embryo and during normal kidney development. The American Journal of Pathology. 160: 973-83. PMID 11891195 DOI: 10.1016/S0002-9440(10)64919-X  0.52
2001 Attié-Bitach T, Vekemans M, Encha-Razavi F. [Craniofacial development: morphogenesis and determinism]. Archives De Pã©Diatrie : Organe Officiel De La Sociã©Te Franã§Aise De Pã©Diatrie. 8: 390s-392s. PMID 11394128 DOI: 10.1016/S0929-693X(01)80086-5  0.8
2001 Amiel J, Attie-Bitach T, Marianowski R, Cormier-Daire V, Abadie V, Bonnet D, Gonzales M, Chemouny S, Brunelle F, Munnich A, Manach Y, Lyonnet S. Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome American Journal of Medical Genetics. 99: 124-127. PMID 11241470 DOI: 10.1002/1096-8628(20010301)99:2<124::Aid-Ajmg1114>3.0.Co;2-9  0.76
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  0.92
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  0.92
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  0.92
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  0.48
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  0.92
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-#  0.48
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, 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  0.52
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  0.92
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  0.52
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