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Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype?
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. Tessier A, et al. Among authors: roth p. Clin Genet. 2020 Dec;98(6):620-621. doi: 10.1111/cge.13840. Epub 2020 Sep 14. Clin Genet. 2020. PMID: 32926417
Fetal megacystis-microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene.
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, Verspyck E, Rendu J, Boutaud L, Tessier A, Thomas S, Razavi F, Achaiaa A, Elkhartoufi N, Hakkakian L, Magnin E, Bôle-Feysot C, Masson C, Ville Y, Roth P, Prieur F, Bessieres B, Bonniere M, Attie-Bitach T. Billon C, et al. Among authors: roth p. Clin Genet. 2020 Sep;98(3):261-273. doi: 10.1111/cge.13801. Epub 2020 Aug 4. Clin Genet. 2020. PMID: 32621347
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: roth p. 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: roth p. 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: roth p. 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
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: roth p. 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
A French Approach to Test Fetuses with Ultrasound Abnormalities Using a Customized Microarray as First-Tier Genetic Test.
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, Turleau C. Malan V, et al. Among authors: roth p. Cytogenet Genome Res. 2015;147(2-3):103-10. doi: 10.1159/000442904. Epub 2016 Jan 7. Cytogenet Genome Res. 2015. PMID: 26735902
Prenatal-onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation.
Chartier S, Boutaud L, Le Guillou E, Alby C, Billon C, Millischer AE, Caillaud C, Galmiche L, Mechler C, Sonigo P, Boddaert N, Lyonnet S, Rondeau S, Bole-Feysot C, Masson C, Ville Y, Roth P, Desguerre I, Encha-Razavi F, Attie-Bitach T. Chartier S, et al. Among authors: roth p. Birth Defects Res. 2021 Nov;113(18):1324-1332. doi: 10.1002/bdr2.1950. Epub 2021 Sep 7. Birth Defects Res. 2021. PMID: 34491000
Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K-AKT-mTOR signaling pathway.
Bourgon N, Carmignac V, Sorlin A, Duffourd Y, Philippe C, Thauvin-Robinet C, Guibaud L, Faivre L, Vabres P, Kuentz P; Collaborators. Bourgon N, et al. Ultrasound Obstet Gynecol. 2022 Apr;59(4):532-542. doi: 10.1002/uog.23715. Epub 2022 Mar 10. Ultrasound Obstet Gynecol. 2022. PMID: 34170046 Free article.
877 results