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104 results

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Page 1
CARD15 mutations in Blau syndrome.
Miceli-Richard C, Lesage S, Rybojad M, Prieur AM, Manouvrier-Hanu S, Häfner R, Chamaillard M, Zouali H, Thomas G, Hugot JP. Miceli-Richard C, et al. Nat Genet. 2001 Sep;29(1):19-20. doi: 10.1038/ng720. Nat Genet. 2001. PMID: 11528384
Fraser syndrome without cryptophthalmos: Two cases.
Boussion S, Lyonnet S, Van Der Zwaag B, Vogel MJ, Smol T, Mezel A, Manouvrier-Hanu S, Vincent-Delorme C, Vanlerberghe C. Boussion S, et al. Eur J Med Genet. 2020 Apr;63(4):103839. doi: 10.1016/j.ejmg.2020.103839. Epub 2020 Jan 7. Eur J Med Genet. 2020. PMID: 31923588
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. 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.
Myhre and LAPS syndromes: clinical and molecular review of 32 patients.
Michot C, Le Goff C, Mahaut C, Afenjar A, Brooks AS, Campeau PM, Destree A, Di Rocco M, Donnai D, Hennekam R, Heron D, Jacquemont S, Kannu P, Lin AE, Manouvrier-Hanu S, Mansour S, Marlin S, McGowan R, Murphy H, Raas-Rothschild A, Rio M, Simon M, Stolte-Dijkstra I, Stone JR, Sznajer Y, Tolmie J, Touraine R, van den Ende J, Van der Aa N, van Essen T, Verloes A, Munnich A, Cormier-Daire V. Michot C, et al. Eur J Hum Genet. 2014 Nov;22(11):1272-7. doi: 10.1038/ejhg.2013.288. Epub 2014 Jan 15. Eur J Hum Genet. 2014. PMID: 24424121 Free PMC article.
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: manouvrier hanu s. 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.
104 results