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Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families.
Willems M, Geneviève D, Borck G, Baumann C, Baujat G, Bieth E, Edery P, Farra C, Gerard M, Héron D, Leheup B, Le Merrer M, Lyonnet S, Martin-Coignard D, Mathieu M, Thauvin-Robinet C, Verloes A, Colleaux L, Munnich A, Cormier-Daire V. Willems M, et al. Among authors: gerard m. J Med Genet. 2010 Dec;47(12):797-802. doi: 10.1136/jmg.2009.067298. Epub 2009 Jul 29. J Med Genet. 2010. PMID: 19643772 Free article.
Expression of the RET proto-oncogene in human embryos.
Attié-Bitach T, Abitbol M, Gérard M, Delezoide AL, Augé J, Pelet A, Amiel J, Pachnis V, Munnich A, Lyonnet S, Vekemans M. Attié-Bitach T, et al. Among authors: gerard m. Am J Med Genet. 1998 Dec 28;80(5):481-6. doi: 10.1002/(sici)1096-8628(19981228)80:5<481::aid-ajmg8>3.0.co;2-6. Am J Med Genet. 1998. PMID: 9880212
Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome.
Sanlaville D, Genevieve D, Bernardin C, Amiel J, Baumann C, de Blois MC, Cormier-Daire V, Gerard B, Gerard M, Le Merrer M, Parent P, Prieur F, Prieur M, Raoul O, Toutain A, Verloes A, Viot G, Romana S, Munnich A, Lyonnet S, Vekemans M, Turleau C. Sanlaville D, et al. Among authors: gerard b, gerard m. Eur J Hum Genet. 2005 May;13(5):690-3. doi: 10.1038/sj.ejhg.5201383. Eur J Hum Genet. 2005. PMID: 15770228 Review.
Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome.
Saugier-Veber P, Bonnet C, Afenjar A, Drouin-Garraud V, Coubes C, Fehrenbach S, Holder-Espinasse M, Roume J, Malan V, Portnoi MF, Jeanne N, Baumann C, Héron D, David A, Gérard M, Bonneau D, Lacombe D, Cormier-Daire V, Billette de Villemeur T, Frébourg T, Bürglen L. Saugier-Veber P, et al. Among authors: gerard m. Hum Mutat. 2007 Nov;28(11):1098-107. doi: 10.1002/humu.20568. Hum Mutat. 2007. PMID: 17565729
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.
Hilton E, Johnston J, Whalen S, Okamoto N, Hatsukawa Y, Nishio J, Kohara H, Hirano Y, Mizuno S, Torii C, Kosaki K, Manouvrier S, Boute O, Perveen R, Law C, Moore A, Fitzpatrick D, Lemke J, Fellmann F, Debray FG, Dastot-Le-Moal F, Gerard M, Martin J, Bitoun P, Goossens M, Verloes A, Schinzel A, Bartholdi D, Bardakjian T, Hay B, Jenny K, Johnston K, Lyons M, Belmont JW, Biesecker LG, Giurgea I, Black G. Hilton E, et al. Among authors: gerard m. Eur J Hum Genet. 2009 Oct;17(10):1325-35. doi: 10.1038/ejhg.2009.52. Epub 2009 Apr 15. Eur J Hum Genet. 2009. PMID: 19367324 Free PMC article.
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.
Mougou-Zerelli S, Thomas S, Szenker E, Audollent S, Elkhartoufi N, Babarit C, Romano S, Salomon R, Amiel J, Esculpavit C, Gonzales M, Escudier E, Leheup B, Loget P, Odent S, Roume J, Gérard M, Delezoide AL, Khung S, Patrier S, Cordier MP, Bouvier R, Martinovic J, Gubler MC, Boddaert N, Munnich A, Encha-Razavi F, Valente EM, Saad A, Saunier S, Vekemans M, Attié-Bitach T. Mougou-Zerelli S, et al. Among authors: gerard m. Hum Mutat. 2009 Nov;30(11):1574-82. doi: 10.1002/humu.21116. Hum Mutat. 2009. PMID: 19777577 Free PMC article.
Temple-Baraitser syndrome: a rare and possibly unrecognized condition.
Jacquinet A, Gérard M, Gabbett MT, Rausin L, Misson JP, Menten B, Mortier G, Van Maldergem L, Verloes A, Debray FG. Jacquinet A, et al. Among authors: gerard m. Am J Med Genet A. 2010 Sep;152A(9):2322-6. doi: 10.1002/ajmg.a.33574. Am J Med Genet A. 2010. PMID: 20683999
A new lysosomal storage disorder resembling Morquio syndrome in sibs.
Perrin L, Fenneteau O, Ilharreborde B, Capri Y, Gérard M, Quoc EB, Passemard S, Ghoumid J, Caillaud C, Froissart R, Tabet AC, Lebon S, El Ghouzzi V, Mazda K, Verloes A. Perrin L, et al. Among authors: gerard m. Eur J Med Genet. 2012 Mar;55(3):157-62. doi: 10.1016/j.ejmg.2012.01.001. Epub 2012 Jan 25. Eur J Med Genet. 2012. PMID: 22330346
586 results