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Multiplex targeted high-throughput sequencing in a series of 352 patients with congenital limb malformations.
Jourdain AS, Petit F, Odou MF, Balduyck M, Brunelle P, Dufour W, Boussion S, Brischoux-Boucher E, Colson C, Dieux A, Gérard M, Ghoumid J, Giuliano F, Goldenberg A, Khau Van Kien P, Lehalle D, Morin G, Moutton S, Smol T, Vanlerberghe C, Manouvrier-Hanu S, Escande F. Jourdain AS, et al. Among authors: escande f. Hum Mutat. 2020 Jan;41(1):222-239. doi: 10.1002/humu.23912. Epub 2019 Sep 23. Hum Mutat. 2020. PMID: 31502745
Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling.
Dufour W, Alawbathani S, Jourdain AS, Asif M, Baujat G, Becker C, Budde B, Gallacher L, Georgomanolis T, Ghoumid J, Höhne W, Lyonnet S, Ba-Saddik IA, Manouvrier-Hanu S, Motameny S, Noegel AA, Pais L, Vanlerberghe C, Wagle P, White SM, Willems M, Nürnberg P, Escande F, Petit F, Hussain MS. Dufour W, et al. Among authors: escande f. Genet Med. 2022 Aug;24(8):1708-1721. doi: 10.1016/j.gim.2022.04.022. Epub 2022 May 18. Genet Med. 2022. PMID: 35583550 Free article.
Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause.
Petit F, Escande F, Jourdain AS, Porchet N, Amiel J, Doray B, Delrue MA, Flori E, Kim CA, Marlin S, Robertson SP, Manouvrier-Hanu S, Holder-Espinasse M. Petit F, et al. Among authors: escande f. Clin Genet. 2014 Sep;86(3):246-51. doi: 10.1111/cge.12259. Epub 2013 Sep 12. Clin Genet. 2014. PMID: 24003905
Small patella syndrome: New clinical and molecular insights into a consistent phenotype.
Vanlerberghe C, Jourdain AS, Dieux A, Toutain A, Callewaert B, Dupuis-Girod S, Unger S, Wright M, Isidor B, Ghoumid J, Petit F, Boutry N, Escande F, Manouvrier-Hanu S. Vanlerberghe C, et al. Among authors: escande f. Clin Genet. 2017 Dec;92(6):676-678. doi: 10.1111/cge.13103. Clin Genet. 2017. PMID: 29120062 No abstract available.
Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants.
Vanlerberghe C, Jourdain AS, Ghoumid J, Frenois F, Mezel A, Vaksmann G, Lenne B, Delobel B, Porchet N, Cormier-Daire V, Smol T, Escande F, Manouvrier-Hanu S, Petit F. Vanlerberghe C, et al. Among authors: escande f. Eur J Hum Genet. 2019 Mar;27(3):360-368. doi: 10.1038/s41431-018-0303-3. Epub 2018 Dec 14. Eur J Hum Genet. 2019. PMID: 30552424 Free PMC article.
Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1.
Ghoumid J, Stichelbout M, Jourdain AS, Frenois F, Lejeune-Dumoulin S, Alex-Cordier MP, Lebrun M, Guerreschi P, Duquennoy-Martinot V, Vinchon M, Ferri J, Jung M, Vicaire S, Vanlerberghe C, Escande F, Petit F, Manouvrier-Hanu S. Ghoumid J, et al. Among authors: escande f. Genet Med. 2017 Sep;19(9):1013-1021. doi: 10.1038/gim.2017.11. Epub 2017 Mar 16. Genet Med. 2017. PMID: 28301459 Free article.
114 results