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Page 1
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.
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, Lehalle D, Nambot S, Jean-Marçais N, Houcinat N, Moutton S, Marle N, Lambert L, Jonveaux P, Foliguet B, Mazutti JP, Gaillard D, Alanio E, Poirisier C, Lebre AS, Aubert-Lenoir M, Arbez-Gindre F, Odent S, Quélin C, Loget P, Fradin M, Willems M, Bigi N, Perez MJ, Blesson S, Francannet C, Beaufrere AM, Patrier-Sallebert S, Guerrot AM, Goldenberg A, Brehin AC, Lespinasse J, Touraine R, Capri Y, Saint-Frison MH, Laurent N, Philippe C, Tran Mau-Them F, Thevenon J, Faivre L, Thauvin-Robinet C, Vitobello A. Lefebvre M, et al. Among authors: antal mc. J Med Genet. 2021 Jun;58(6):400-413. doi: 10.1136/jmedgenet-2020-106867. Epub 2020 Jul 30. J Med Genet. 2021. PMID: 32732226
Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.
Mary L, Chennen K, Stoetzel C, Antin M, Leuvrey A, Nourisson E, Alanio-Detton E, Antal MC, Attié-Bitach T, Bouvagnet P, Bouvier R, Buenerd A, Clémenson A, Devisme L, Gasser B, Gilbert-Dussardier B, Guimiot F, Khau Van Kien P, Leroy B, Loget P, Martinovic J, Pelluard F, Perez MJ, Petit F, Pinson L, Rooryck-Thambo C, Poch O, Dollfus H, Schaefer E, Muller J. Mary L, et al. Among authors: antal mc. Clin Genet. 2019 Mar;95(3):384-397. doi: 10.1111/cge.13500. Clin Genet. 2019. PMID: 30614526
Prenatal diagnosis of cerebro-oculo-facio-skeletal syndrome: Report of three fetuses and review of the literature.
Le Van Quyen P, Calmels N, Bonnière M, Chartier S, Razavi F, Chelly J, El Chehadeh S, Baer S, Boutaud L, Bacrot S, Obringer C, Favre R, Attié-Bitach T, Laugel V, Antal MC. Le Van Quyen P, et al. Among authors: antal mc. Am J Med Genet A. 2020 May;182(5):1236-1242. doi: 10.1002/ajmg.a.61520. Epub 2020 Feb 13. Am J Med Genet A. 2020. PMID: 32052936
A severe case of Frank-ter Haar syndrome and literature review: Further delineation of the phenotypical spectrum.
Durand B, Stoetzel C, Schaefer E, Calmels N, Scheidecker S, Kempf N, De Melo C, Guilbert AS, Timbolschi D, Donato L, Astruc D, Sauer A, Antal MC, Dollfus H, El Chehadeh S. Durand B, et al. Among authors: antal mc. Eur J Med Genet. 2020 Apr;63(4):103857. doi: 10.1016/j.ejmg.2020.103857. Epub 2020 Jan 21. Eur J Med Genet. 2020. PMID: 31978614 Review.
Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.
Miguet M, Thevenon J, Laugel V, Lefebvre M, Bourchany A, Rivière JB, Duffourd Y, Schaefer E, Antal MC, Abida R, Weingertner AS, Kremer V, Vabres P, Morice-Picard F, Gonzales M, Lipsker D, Fraitag S, Mandel JL, Chelly J, Dollfus H, Faivre L, Thauvin-Robinet C, Calmels N, El Chehadeh S. Miguet M, et al. Among authors: antal mc. Prenat Diagn. 2016 Dec;36(13):1276-1279. doi: 10.1002/pd.4965. Epub 2016 Dec 2. Prenat Diagn. 2016. PMID: 27862069 No abstract available.
36 results