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Page 1
Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
Tabet AC, Rolland T, Ducloy M, Lévy J, Buratti J, Mathieu A, Haye D, Perrin L, Dupont C, Passemard S, Capri Y, Verloes A, Drunat S, Keren B, Mignot C, Marey I, Jacquette A, Whalen S, Pipiras E, Benzacken B, Chantot-Bastaraud S, Afenjar A, Héron D, Le Caignec C, Beneteau C, Pichon O, Isidor B, David A, El Khattabi L, Kemeny S, Gouas L, Vago P, Mosca-Boidron AL, Faivre L, Missirian C, Philip N, Sanlaville D, Edery P, Satre V, Coutton C, Devillard F, Dieterich K, Vuillaume ML, Rooryck C, Lacombe D, Pinson L, Gatinois V, Puechberty J, Chiesa J, Lespinasse J, Dubourg C, Quelin C, Fradin M, Journel H, Toutain A, Martin D, Benmansour A, Leblond CS, Toro R, Amsellem F, Delorme R, Bourgeron T. Tabet AC, et al. Among authors: rooryck c. NPJ Genom Med. 2019 Jul 1;4:16. doi: 10.1038/s41525-019-0090-y. eCollection 2019. NPJ Genom Med. 2019. PMID: 31285849 Free PMC article.
Exploring the Familial Phenotypic Variability Associated With TTN Truncating Variants in Cardiomyopathies: Variant Spectrum, Genotype-Phenotype Correlation and Consequences in Genetic Counseling.
Massier M, de Groote P, Donal E, Magnin-Poull I, Coubes C, Le Guillou Horn X, Rooryck C, Réant P, Troadec Y, Bréhin AC, Proukhnitzky J, Gandjbakhch E, Charron P, Richard P, Ader F. Massier M, et al. Among authors: rooryck c. Clin Genet. 2025 Apr;107(4):425-433. doi: 10.1111/cge.14679. Epub 2025 Jan 22. Clin Genet. 2025. PMID: 39844436
Morphological and genetic causes of fetal cardiomyopathies.
Kohaut E, Ader F, Rooryck C, Pelluard F, Bonnière M, André G, Sauvestre F, Roth P, Khraiche D, Bessières B, Attié-Bitach T, Richard P. Kohaut E, et al. Among authors: rooryck c. Clin Genet. 2023 Jul;104(1):63-72. doi: 10.1111/cge.14333. Epub 2023 May 20. Clin Genet. 2023. PMID: 37209000
[Bardet-Biedl syndrome].
Rooryck C, Lacombe D. Rooryck C, et al. Ann Endocrinol (Paris). 2008 Dec;69(6):463-71. doi: 10.1016/j.ando.2008.10.001. Epub 2008 Nov 18. Ann Endocrinol (Paris). 2008. PMID: 19019343 Review. French.
1.5 Mb microdeletion in 15q24 in a patient with mild OAVS phenotype.
Brun A, Cailley D, Toutain J, Bouron J, Arveiler B, Lacombe D, Goizet C, Rooryck C. Brun A, et al. Among authors: rooryck c. Eur J Med Genet. 2012 Feb;55(2):135-9. doi: 10.1016/j.ejmg.2011.11.006. Epub 2011 Dec 3. Eur J Med Genet. 2012. PMID: 22198201
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.
Thierry G, Bénéteau C, Pichon O, Flori E, Isidor B, Popelard F, Delrue MA, Duboscq-Bidot L, Thuresson AC, van Bon BW, Cailley D, Rooryck C, Paubel A, Metay C, Dusser A, Pasquier L, Béri M, Bonnet C, Jaillard S, Dubourg C, Tou B, Quéré MP, Soussi-Zander C, Toutain A, Lacombe D, Arveiler B, de Vries BB, Jonveaux P, David A, Le Caignec C. Thierry G, et al. Among authors: rooryck c. Am J Med Genet A. 2012 Jul;158A(7):1633-40. doi: 10.1002/ajmg.a.35423. Epub 2012 Jun 7. Am J Med Genet A. 2012. PMID: 22678713 Free article.
137 results