| Year |
Citation |
Score |
| 2022 |
Delalande JM, Nagy N, McCann CJ, Natarajan D, Cooper JE, Carreno G, Dora D, Campbell A, Laurent N, Kemos P, Thomas S, Alby C, Attié-Bitach T, Lyonnet S, Logan MP, et al. Corrigendum: TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human. Frontiers in Molecular Neuroscience. 15: 871557. PMID 35571366 DOI: 10.3389/fnmol.2022.871557 |
0.403 |
|
| 2021 |
Delalande JM, Nagy N, McCann CJ, Natarajan D, Cooper JE, Carreno G, Dora D, Campbell A, Laurent N, Kemos P, Thomas S, Alby C, Attié-Bitach T, Lyonnet S, Logan MP, et al. TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human. Frontiers in Molecular Neuroscience. 14: 757646. PMID 35002618 DOI: 10.3389/fnmol.2021.757646 |
0.525 |
|
| 2021 |
Ghesh L, Denis Musquer M, Devisme L, Stichelbout M, Boutaud L, Elkhartoufi N, Vaast P, Boute O, Riteau AS, Le Vaillant C, Winer N, Joubert M, Bezieau S, Thomas S, Attie-Bitach T, et al. The first Two non-Finnish HYLS1 Variants: expanding the phenotypic spectrum of Hydrolethalus Syndrome. Clinical Genetics. PMID 34212369 DOI: 10.1111/cge.14021 |
0.301 |
|
| 2020 |
Billon C, Molin A, Poirsier C, Clemenson A, Dauge C, Grelet M, Sigaudy S, Patrier S, Goldenberg A, Layet V, Tantau J, Fleury C, Liard A, Diguet A, Fritih R, ... ... Thomas S, et al. Fetal megacystis-microcolon: genetic mutational spectrum and identification of PDCL3 as a novel candidate gene. Clinical Genetics. PMID 32621347 DOI: 10.1111/Cge.13801 |
0.502 |
|
| 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, ... ... Thomas S, 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 |
0.543 |
|
| 2019 |
Thomas S, Boutaud L, Reilly ML, Benmerah A. Cilia in hereditary cerebral anomalies. Biology of the Cell. PMID 31177551 DOI: 10.1111/Boc.201900012 |
0.361 |
|
| 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 |
0.373 |
|
| 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 |
0.466 |
|
| 2018 |
Quélin C, Loget P, Boutaud L, Elkhartoufi N, Milon J, Odent S, Fradin M, Demurger F, Pasquier L, Thomas S, Attié-Bitach T. Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis. American Journal of Medical Genetics. Part A. PMID 29704304 DOI: 10.1002/Ajmg.A.38685 |
0.4 |
|
| 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, ... ... Thomas S, 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 |
0.623 |
|
| 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 |
0.447 |
|
| 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 |
0.473 |
|
| 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, ... ... Thomas S, 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 |
0.647 |
|
| 2017 |
Boeva V, Louis-Brennetot C, Peltier A, Durand S, Pierre-Eugène C, Raynal V, Etchevers HC, Thomas S, Lermine A, Daudigeos-Dubus E, Geoerger B, Orth MF, Grünewald TGP, Diaz E, Ducos B, et al. Heterogeneity of neuroblastoma cell identity defined by transcriptional circuitries. Nature Genetics. PMID 28740262 DOI: 10.1038/Ng.3921 |
0.625 |
|
| 2017 |
Laquerriere A, Maillard C, Cavallin M, Chapon F, Marguet F, Molin A, Sigaudy S, Blouet M, Benoist G, Fernandez C, Poirier K, Chelly J, Thomas S, Bahi-Buisson N. Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations. Journal of Neuropathology and Experimental Neurology. 76: 195-205. PMID 28395088 DOI: 10.1093/Jnen/Nlw124 |
0.417 |
|
| 2017 |
Maillard C, Cavallin M, Piquand K, Philbert M, Bault JP, Millischer AE, Moshous D, Rio M, Gitiaux C, Boddaert N, Masson C, Thomas S, Bahi-Buisson N. Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation. American Journal of Medical Genetics. Part A. PMID 28168853 DOI: 10.1002/Ajmg.A.38061 |
0.469 |
|
| 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 |
0.325 |
|
| 2017 |
Cavallin M, Rujano MA, Bednarek N, Medina-Cano D, Bernabe Gelot A, Drunat S, Maillard C, Nitschké P, Beneteau C, Poirier K, Rio M, Boddaert N, Passemard S, Baffet A, Thomas S, et al. WDR81 mutations cause microlissencephaly and microcephaly and impair mitotic progression in neural progenitors European Journal of Paediatric Neurology. 21: e84. DOI: 10.1016/J.Ejpn.2017.04.861 |
0.437 |
|
| 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 |
0.519 |
|
| 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 |
0.651 |
|
| 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 |
0.678 |
|
| 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 |
0.307 |
|
| 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 |
0.353 |
|
| 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, ... ... Thomas S, 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 |
0.633 |
|
| 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 |
0.4 |
|
| 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 |
0.551 |
|
| 2015 |
Perrault I, Halbritter J, Porath J, Gerard X, Braun D, Gee H, Fathy H, Saunier S, Cormier-Daire V, Thomas S, Attié-Bitach T, Boddaert N, Taschner M, Schueler M, Lorentzen E, et al. Mutations of IFT81, encoding an IFT-B core protein, as a rare cause of a ciliopathy Cilia. 4. DOI: 10.1186/2046-2530-4-S1-P7 |
0.45 |
|
| 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, ... ... Thomas S, 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 |
0.597 |
|
| 2014 |
Huynh Cong E, Bizet AA, Boyer O, Woerner S, Gribouval O, Filhol E, Arrondel C, Thomas S, Silbermann F, Canaud G, Hachicha J, Ben Dhia N, Peraldi MN, Harzallah K, Iftene D, et al. A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS. Journal of the American Society of Nephrology : Jasn. 25: 2435-43. PMID 24876116 DOI: 10.1681/Asn.2013101126 |
0.483 |
|
| 2014 |
Mouton-Liger F, Sahún I, Collin T, Lopes Pereira P, Masini D, Thomas S, Paly E, Luilier S, Même S, Jouhault Q, Bennaï S, Beloeil JC, Bizot JC, Hérault Y, Dierssen M, et al. Developmental molecular and functional cerebellar alterations induced by PCP4/PEP19 overexpression: implications for Down syndrome. Neurobiology of Disease. 63: 92-106. PMID 24291518 DOI: 10.1016/J.Nbd.2013.11.016 |
0.379 |
|
| 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 |
0.718 |
|
| 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 |
0.501 |
|
| 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 |
0.536 |
|
| 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 |
0.463 |
|
| 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 |
0.425 |
|
| 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, 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 |
0.63 |
|
| 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 |
0.657 |
|
| 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 |
0.427 |
|
| 2011 |
Benko S, Gordon CT, Mallet D, Sreenivasan R, Thauvin-Robinet C, Brendehaug A, Thomas S, Bruland O, David M, Nicolino M, Labalme A, Sanlaville D, Callier P, Malan V, Huet F, et al. Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development. Journal of Medical Genetics. 48: 825-30. PMID 22051515 DOI: 10.1136/Jmedgenet-2011-100255 |
0.539 |
|
| 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 |
0.636 |
|
| 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 |
0.455 |
|
| 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 |
0.718 |
|
| 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 |
0.518 |
|
| 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, ... ... Thomas S, 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 |
0.503 |
|
| 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 |
0.499 |
|
| 2010 |
Parisot P, Bajolle F, Attié-Bittach T, Thomas S, Goudefroye G, Abadie V, Lyonnet S, Bonnet D. 321 Congenital heart defects in CHARGE syndrome patients with CHD7 mutations Archives of Cardiovascular Diseases Supplements. 2: 104-105. DOI: 10.1016/S1878-6480(10)70323-2 |
0.588 |
|
| 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 |
0.507 |
|
| 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 |
0.74 |
|
| 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, 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 |
0.756 |
|
| 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 |
0.678 |
|
| 2007 |
de Pontual L, Trochet D, Bourdeaut F, Thomas S, Etchevers H, Chompret A, Minard V, Valteau D, Brugieres L, Munnich A, Delattre O, Lyonnet S, Janoueix-Lerosey I, Amiel J. Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastoma. European Journal of Cancer (Oxford, England : 1990). 43: 2366-72. PMID 17765533 DOI: 10.1016/J.Ejca.2007.07.016 |
0.75 |
|
| 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 |
0.764 |
|
| 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 |
0.599 |
|
| 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 |
0.727 |
|
| 2003 |
Thiery E, Thomas S, Vacher S, Delezoide A-, Delabar JM, Créau N. Chromosome 21 KIR channels in brain development. Journal of Neural Transmission-Supplement. 105-15. PMID 15068243 DOI: 10.1007/978-3-7091-6721-2_9 |
0.321 |
|
| 2003 |
Thomas S, Thiery E, Aflalo R, Vayssettes C, Verney C, Berthuy I, Créau N. PCP4 is highly expressed in ectoderm and particularly in neuroectoderm derivatives during mouse embryogenesis. Gene Expression Patterns : Gep. 3: 93-7. PMID 12609609 DOI: 10.1016/S1567-133X(02)00100-X |
0.346 |
|
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