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Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
Jedraszak G, Jobic F, Receveur A, Bilan F, Gilbert-Dussardier B, Tiffany B, Missirian C, Willems M, Odent S, Lucas J, Dubourg C, Schaefer E, Scheidecker S, Lespinasse J, Goldenberg A, Guerrot AM, Joly-Helas G, Chambon P, Le Caignec C, David A, Coutton C, Satre V, Vieville G, Amblard F, Harbuz R, Sanlaville D, Till M, Vincent-Delorme C, Colson C, Andrieux J, Naudion S, Toutain J, Rooryck C, de Fréminville B, Prieur F, Daire VC, Amram D, Kleinfinger P, Schulze MB, Raabe-Meyer G, Courage C, Lemke J, Stefanou EG, Loretta T, Emmanouil M, Tzeli SK, Sodowska H, Anderson J, Nandini A, Copin H, Garçon L, Liehr T, Morin G. Jedraszak G, et al. Among authors: bilan f. Am J Med Genet A. 2024 Apr;194(4):e63476. doi: 10.1002/ajmg.a.63476. Epub 2023 Nov 16. Am J Med Genet A. 2024. PMID: 37974505
Outcome of intracytoplasmic sperm injection for a couple in which the man is carrier of CFTR p.[R74W;V201M;D1270N] and p.P841R mutations and his spouse a heterozygous carrier of p.F508del mutation of the cystic fibrosis transmembrane conductance regulator gene.
Brugnon F, Bilan F, Heraud MC, Grizard G, Janny L, Creveaux I. Brugnon F, et al. Among authors: bilan f. Fertil Steril. 2008 Nov;90(5):2004.e23-6. doi: 10.1016/j.fertnstert.2008.05.057. Epub 2008 Aug 13. Fertil Steril. 2008. PMID: 18703181 Free article.
Delineation of 15q13.3 microdeletions.
Masurel-Paulet A, Andrieux J, Callier P, Cuisset JM, Le Caignec C, Holder M, Thauvin-Robinet C, Doray B, Flori E, Alex-Cordier MP, Beri M, Boute O, Delobel B, Dieux A, Vallee L, Jaillard S, Odent S, Isidor B, Beneteau C, Vigneron J, Bilan F, Gilbert-Dussardier B, Dubourg C, Labalme A, Bidon C, Gautier A, Pernes P, Pinoit JM, Huet F, Mugneret F, Aral B, Jonveaux P, Sanlaville D, Faivre L. Masurel-Paulet A, et al. Among authors: bilan f. Clin Genet. 2010 Aug;78(2):149-61. doi: 10.1111/j.1399-0004.2010.01374.x. Epub 2010 Feb 9. Clin Genet. 2010. PMID: 20236110
Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations.
Legendre M, Gonzales M, Goudefroye G, Bilan F, Parisot P, Perez MJ, Bonnière M, Bessières B, Martinovic J, Delezoide AL, Jossic F, Fallet-Bianco C, Bucourt M, Tantau J, Loget P, Loeuillet L, Laurent N, Leroy B, Salhi H, Bigi N, Rouleau C, Guimiot F, Quélin C, Bazin A, Alby C, Ichkou A, Gesny R, Kitzis A, Ville Y, Lyonnet S, Razavi F, Gilbert-Dussardier B, Vekemans M, Attié-Bitach T. Legendre M, et al. Among authors: bilan f. J Med Genet. 2012 Nov;49(11):698-707. doi: 10.1136/jmedgenet-2012-100926. Epub 2012 Sep 28. J Med Genet. 2012. PMID: 23024289
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature.
Béna F, Bruno DL, Eriksson M, van Ravenswaaij-Arts C, Stark Z, Dijkhuizen T, Gerkes E, Gimelli S, Ganesamoorthy D, Thuresson AC, Labalme A, Till M, Bilan F, Pasquier L, Kitzis A, Dubourgm C, Rossi M, Bottani A, Gagnebin M, Sanlaville D, Gilbert-Dussardier B, Guipponi M, van Haeringen A, Kriek M, Ruivenkamp C, Antonarakis SE, Anderlid BM, Slater HR, Schoumans J. Béna F, et al. Among authors: bilan f. Am J Med Genet B Neuropsychiatr Genet. 2013 Jun;162B(4):388-403. doi: 10.1002/ajmg.b.32148. Epub 2013 Mar 26. Am J Med Genet B Neuropsychiatr Genet. 2013. PMID: 23533028 Review.
Osteogenesis imperfecta, tricho-dento-osseous syndrome and intellectual disability: a familial case with 17q21.33-q22 (COL1A1 and DLX3) deletion and 7q32.3-q33 duplication resulting from a reciprocal interchromosomal insertion.
Harbuz R, Bilan F, Couet D, Charraud V, Kitzis A, Gilbert-Dussardier B. Harbuz R, et al. Among authors: bilan f. Am J Med Genet A. 2013 Oct;161A(10):2504-11. doi: 10.1002/ajmg.a.36122. Epub 2013 Aug 15. Am J Med Genet A. 2013. PMID: 23949819
15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients.
Vanlerberghe C, Petit F, Malan V, Vincent-Delorme C, Bouquillon S, Boute O, Holder-Espinasse M, Delobel B, Duban B, Vallee L, Cuisset JM, Lemaitre MP, Vantyghem MC, Pigeyre M, Lanco-Dosen S, Plessis G, Gerard M, Decamp M, Mathieu M, Morin G, Jedraszak G, Bilan F, Gilbert-Dussardier B, Fauvert D, Roume J, Cormier-Daire V, Caumes R, Puechberty J, Genevieve D, Sarda P, Pinson L, Blanchet P, Lemeur N, Sheth F, Manouvrier-Hanu S, Andrieux J. Vanlerberghe C, et al. Among authors: bilan f. Eur J Med Genet. 2015 Mar;58(3):140-7. doi: 10.1016/j.ejmg.2015.01.002. Epub 2015 Jan 14. Eur J Med Genet. 2015. PMID: 25596525
Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD).
Hyon C, Chantot-Bastaraud S, Harbuz R, Bhouri R, Perrot N, Peycelon M, Sibony M, Rojo S, Piguel X, Bilan F, Gilbert-Dussardier B, Kitzis A, McElreavey K, Siffroi JP, Bashamboo A. Hyon C, et al. Among authors: bilan f. Am J Med Genet A. 2015 Aug;167A(8):1851-8. doi: 10.1002/ajmg.a.37101. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25900885 Free article.
58 results