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Page 1
Prenatal diagnosis of Milroy disease.
Benard J, Saada J, Amiel J, Vignes S, Benachi A, Picone O. Benard J, et al. Among authors: amiel j. Prenat Diagn. 2011 Dec;31(12):1207-9. doi: 10.1002/pd.2864. Epub 2011 Oct 24. Prenat Diagn. 2011. PMID: 22021048 No abstract available.
GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment.
Zanetti A, Dujardin G, Fares-Taie L, Amiel J, Roger JE, Audo I, Robert MP, David P, Jung V, Goudin N, Guerrera IC, Moriceau S, Amana D, Assia Batzir N, Bachar-Zipori A, Basel Salmon L, Boddaert N, Briault S, Bruel AL, Costet-Fighiera C, Coutinho Santos L, Gitiaux C, Kaminska K, Kuentz P, Orenstein N, Philip-Sarles N, Plutino M, Quinodoz M, Santos C, Sigaudy S, Soeiro E Sá M, Sofrin E, Sousa AB, Sousa-Luis R, Thauvin-Robinet C, van Dijk EL, Zaafrane-Khachnaoui K, Zur D, Kaplan J, Rivolta C, Rozet JM, Perrault I. Zanetti A, et al. Among authors: amiel j. Nat Commun. 2024 Nov 21;15(1):10096. doi: 10.1038/s41467-024-54549-8. Nat Commun. 2024. PMID: 39572588 Free PMC article.
Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum.
Pingault V, Neiva-Vaz C, de Oliveira J, Martínez-Gil N, Lasa-Aranzasti A, Campos B, Lakeman IMM, Nibbeling EAR, Stoeva R, Jayakar P, Dabir T, Elloumi HZ, Strong A, Hanein S, Picard A, Ochsenbein F, Blanc P, Amiel J. Pingault V, et al. Among authors: amiel j. Eur J Hum Genet. 2024 Sep 27. doi: 10.1038/s41431-024-01698-5. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39333427
AI-based diagnosis and phenotype - Genotype correlations in syndromic craniosynostoses.
Hennocq Q, Paternoster G, Collet C, Amiel J, Bongibault T, Bouygues T, Cormier-Daire V, Douillet M, Dunaway DJ, Jeelani NO, van de Lande LS, Lyonnet S, Ong J, Picard A, Rickart AJ, Rio M, Schievano S, Arnaud E, Garcelon N, Khonsari RH. Hennocq Q, et al. Among authors: amiel j. J Craniomaxillofac Surg. 2024 Oct;52(10):1172-1187. doi: 10.1016/j.jcms.2024.02.010. Epub 2024 Feb 5. J Craniomaxillofac Surg. 2024. PMID: 39187417 Free article.
Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders.
Thauvin-Robinet C, Garde A, Delanne J, Racine C, Rousseau T, Simon E, François M, Moutton S, Sylvie O, Quelin C, Morel G, Goldenberg A, Guerrot AM, Vera G, Gruchy N, Colson C, Boute O, Abel C, Putoux A, Amiel J, Guichet A, Isidor B, Deiller C, Wells C, Rooryck C, Legendre M, Francannet C, Dard R, Sigaudy S, Bruel AL, Safraou H, Denommé-Pichon AS, Nambot S, Asensio MH, Binquet C, Duffourd Y, Vitobello A, Philippe C, Faivre L, Tran-Mau-Them F, Bourgon N. Thauvin-Robinet C, et al. Among authors: amiel j. Prenat Diagn. 2024 Sep;44(10):1179-1197. doi: 10.1002/pd.6623. Epub 2024 Aug 13. Prenat Diagn. 2024. PMID: 39138116
Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations.
Haghshenas S, Karimi K, Stevenson RE, Levy MA, Relator R, Kerkhof J, Rzasa J, McConkey H, Lauzon-Young C, Balci TB, White-Brown AM, Carter MT, Richer J, Armour CM, Sawyer SL, Bhola PT, Tedder ML, Skinner CD, van Rooij IALM, van de Putte R, de Blaauw I, Koeck RM, Hoischen A, Brunner H, Esteki MZ, Pelet A, Lyonnet S, Amiel J, Boycott KM, Sadikovic B. Haghshenas S, et al. Among authors: amiel j. Am J Hum Genet. 2024 Aug 8;111(8):1643-1655. doi: 10.1016/j.ajhg.2024.07.005. Epub 2024 Jul 31. Am J Hum Genet. 2024. PMID: 39089258
938 results