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Matthew-Wood syndrome: report of two new cases supporting autosomal recessive inheritance and exclusion of FGF10 and FGFR2.
Martinovic-Bouriel J, Bernabé-Dupont C, Golzio C, Grattagliano-Bessières B, Malan V, Bonnière M, Esculpavit C, Fallet-Bianco C, Mirlesse V, Le Bidois J, Aubry MC, Vekemans M, Morichon N, Etchevers H, Attié-Bitach T, Encha-Razavi F, Benachi A. Martinovic-Bouriel J, et al. Among authors: malan v. Am J Med Genet A. 2007 Feb 1;143A(3):219-28. doi: 10.1002/ajmg.a.31599. Am J Med Genet A. 2007. PMID: 17236193
A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia.
Nicolle R, Altin N, Siquier-Pernet K, Salignac S, Blanc P, Munnich A, Bole-Feysot C, Malan V, Caron B, Nitschké P, Desguerre I, Boddaert N, Rio M, Rausell A, Cantagrel V. Nicolle R, et al. Among authors: malan v. BMC Med Genomics. 2023 Jun 21;16(1):143. doi: 10.1186/s12920-023-01582-z. BMC Med Genomics. 2023. PMID: 37344844 Free PMC article.
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).
Courdier C, Boudjarane J, Malan V, Muti C, Sperelakis-Beedham B, Odent S, Jaillard S, Quelin C, Le Caignec C, Patat O, Dubucs C, Julia S, Schluth-Bolard C, Goumy C, Redon S, Gaillard JB, Huynh MT, Dupont C, Tabet AC, Cogan G, Vialard F, Dard R, Jedraszak G, Jobic F, Lefebvre M, Quenum G, Inai S, Rama M, Sauvestre F, Coatleven F, Thomas J, Rooryck C. Courdier C, et al. Among authors: malan v. Prenat Diagn. 2023 Jun;43(6):734-745. doi: 10.1002/pd.6340. Epub 2023 Mar 23. Prenat Diagn. 2023. PMID: 36914926 Free article.
Chimera and other fertilization errors.
Malan V, Vekemans M, Turleau C. Malan V, et al. Clin Genet. 2006 Nov;70(5):363-73. doi: 10.1111/j.1399-0004.2006.00689.x. Clin Genet. 2006. PMID: 17026615 Review.
A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.
Huber C, Delezoide AL, Guimiot F, Baumann C, Malan V, Le Merrer M, Da Silva DB, Bonneau D, Chatelain P, Chu C, Clark R, Cox H, Edery P, Edouard T, Fano V, Gibson K, Gillessen-Kaesbach G, Giovannucci-Uzielli ML, Graul-Neumann LM, van Hagen JM, van Hest L, Horovitz D, Melki J, Partsch CJ, Plauchu H, Rajab A, Rossi M, Sillence D, Steichen-Gersdorf E, Stewart H, Unger S, Zenker M, Munnich A, Cormier-Daire V. Huber C, et al. Among authors: malan v. Eur J Hum Genet. 2009 Mar;17(3):395-400. doi: 10.1038/ejhg.2008.200. Epub 2008 Oct 29. Eur J Hum Genet. 2009. PMID: 19225462 Free PMC article.
113 results