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503 results

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Page 1
Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation.
Rio M, Molinari F, Heuertz S, Ozilou C, Gosset P, Raoul O, Cormier-Daire V, Amiel J, Lyonnet S, Le Merrer M, Turleau C, de Blois MC, Prieur M, Romana S, Vekemans M, Munnich A, Colleaux L. Rio M, et al. Among authors: vekemans m. J Med Genet. 2002 Apr;39(4):266-70. doi: 10.1136/jmg.39.4.266. J Med Genet. 2002. PMID: 11950856 Free PMC article.
Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype.
Faivre L, Cormier-Daire V, Lapierre JM, Colleaux L, Jacquemont S, Geneviéve D, Saunier P, Munnich A, Turleau C, Romana S, Prieur M, De Blois MC, Vekemans M. Faivre L, et al. Among authors: vekemans m. J Med Genet. 2002 Aug;39(8):594-6. doi: 10.1136/jmg.39.8.594. J Med Genet. 2002. PMID: 12161602 Free PMC article. No abstract available.
Mild phenotype in a 15-year-old boy with Pallister-Killian syndrome.
Genevieve D, Cormier-Daire V, Sanlaville D, Faivre L, Gosset P, Allart L, Picq M, Munnich A, Romana S, de Blois M, Vekemans M. Genevieve D, et al. Among authors: vekemans m. Am J Med Genet A. 2003 Jan 1;116A(1):90-3. doi: 10.1002/ajmg.a.10877. Am J Med Genet A. 2003. PMID: 12476459 Review.
Spectrum of NSD1 mutations in Sotos and Weaver syndromes.
Rio M, Clech L, Amiel J, Faivre L, Lyonnet S, Le Merrer M, Odent S, Lacombe D, Edery P, Brauner R, Raoul O, Gosset P, Prieur M, Vekemans M, Munnich A, Colleaux L, Cormier-Daire V. Rio M, et al. Among authors: vekemans m. J Med Genet. 2003 Jun;40(6):436-40. doi: 10.1136/jmg.40.6.436. J Med Genet. 2003. PMID: 12807965 Free PMC article.
NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome.
Borck G, Redon R, Sanlaville D, Rio M, Prieur M, Lyonnet S, Vekemans M, Carter NP, Munnich A, Colleaux L, Cormier-Daire V. Borck G, et al. Among authors: vekemans m. J Med Genet. 2004 Dec;41(12):e128. doi: 10.1136/jmg.2004.026666. J Med Genet. 2004. PMID: 15591270 Free PMC article. No abstract available.
Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders.
Jacquemont ML, Sanlaville D, Redon R, Raoul O, Cormier-Daire V, Lyonnet S, Amiel J, Le Merrer M, Heron D, de Blois MC, Prieur M, Vekemans M, Carter NP, Munnich A, Colleaux L, Philippe A. Jacquemont ML, et al. Among authors: vekemans m. J Med Genet. 2006 Nov;43(11):843-9. doi: 10.1136/jmg.2006.043166. Epub 2006 Jul 13. J Med Genet. 2006. PMID: 16840569 Free PMC article.
503 results