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Variants in FGF10 cause early onset of severe childhood interstitial lung disease: A detailed description of four affected children.
Schütz K, Schmidt A, Schwerk N, Renz DM, Gerard B, Schaefer E, Antal MC, Peters S, Griese M, Rapp CK, Engels H, Cremer K, Bergmann AK, Schmidt G, Auber B, Kamp JC, Laenger F, von Hardenberg S. Schütz K, et al. Among authors: antal mc. Pediatr Pulmonol. 2023 Nov;58(11):3095-3105. doi: 10.1002/ppul.26627. Epub 2023 Aug 10. Pediatr Pulmonol. 2023. PMID: 37560881
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
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
36 results