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Page 1
A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern.
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. Chartier S, et al. Among authors: vekemans m. Birth Defects Res. 2018 Apr 17;110(7):598-602. doi: 10.1002/bdr2.1204. Epub 2018 Jan 22. Birth Defects Res. 2018. PMID: 29356416
Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation.
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, Attié-Bitach T. Alby C, et al. Among authors: vekemans m. Birth Defects Res A Clin Mol Teratol. 2016 Jan;106(1):36-46. doi: 10.1002/bdra.23472. Epub 2015 Dec 14. Birth Defects Res A Clin Mol Teratol. 2016. PMID: 26663670
Fetal Cerebral Ventricular Dilatation: Etiopathogenic Study of 130 Observations.
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. Darouich S, et al. Among authors: vekemans m. Birth Defects Res. 2017 Nov 15;109(19):1586-1595. doi: 10.1002/bdr2.1093. Epub 2017 Jul 31. Birth Defects Res. 2017. PMID: 28758373
In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses.
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, Cordier MP, Bernabe Gelot A, Clementi M, Mammi I, Vekemans M, Razavi F, Gonzales M, Thauvin-Robinet C, Attié-Bitach T. Alby C, et al. Among authors: vekemans m. Birth Defects Res. 2018 Mar 1;110(4):382-389. doi: 10.1002/bdr2.1154. Epub 2017 Nov 28. Birth Defects Res. 2018. PMID: 29193896
Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1.
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. Bacrot S, et al. Among authors: vekemans m. Birth Defects Res. 2018 Apr 3;110(6):538-542. doi: 10.1002/bdr2.1191. Epub 2018 Jan 8. Birth Defects Res. 2018. PMID: 29316359
Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature.
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. Ruaud L, et al. Among authors: vekemans m. Birth Defects Res. 2022 Jun;114(10):499-504. doi: 10.1002/bdr2.2011. Epub 2022 Apr 15. Birth Defects Res. 2022. PMID: 35426486 Review.
High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy.
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, Loeuillet L, Roume J, Martinovic J, Mougou-Zerelli S, Gonzales M, Meyer V, Wessner M, Feysot CB, Nitschke P, Leticee N, Munnich A, Lyonnet S, Wookey P, Gyapay G, Foliguet B, Vekemans M, Attié-Bitach T. Thomas S, et al. Among authors: vekemans m. Hum Mutat. 2010 Oct;31(10):1134-41. doi: 10.1002/humu.21329. Hum Mutat. 2010. PMID: 20690116
Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome.
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, Faivre L, Boddaert N, Rauch A, Vekemans M, Attié-Bitach T. Putoux A, et al. Among authors: vekemans m. J Med Genet. 2012 Nov;49(11):713-20. doi: 10.1136/jmedgenet-2012-101016. J Med Genet. 2012. PMID: 23125460
Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.
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, Bahi-Buisson N, Boddaert N, Colleaux L, Roth P, Ville Y, Vekemans M, Encha-Razavi F, Attié-Bitach T, Thomas S. Alby C, et al. Among authors: vekemans m. Am J Med Genet A. 2018 May;176(5):1091-1098. doi: 10.1002/ajmg.a.38684. Am J Med Genet A. 2018. PMID: 29681083
504 results