Sanlaville D - Search Results

1

Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability.

Delahaye A, Sznajer Y, Lyonnet S, Elmaleh-Bergès M, Delpierre I, Audollent S, Wiener-Vacher S, Mansbach AL, Amiel J, Baumann C, Bremond-Gignac D, Attié-Bitach T, Verloes A, Sanlaville D. Delahaye A, et al. Among authors: sanlaville d. Clin Genet. 2007 Aug;72(2):112-21. doi: 10.1111/j.1399-0004.2007.00821.x. Clin Genet. 2007. PMID: 17661815

2

De novo inverted duplication 9p21pter involving telomeric repeated sequences.

Sanlaville D, Baumann C, Lapierre JM, Romana S, Collot N, Cacheux V, Turleau C, Tachdjian G. Sanlaville D, et al. Am J Med Genet. 1999 Mar 12;83(2):125-31. doi: 10.1002/(sici)1096-8628(19990312)83:2<125::aid-ajmg8>3.0.co;2-0. Am J Med Genet. 1999. PMID: 10190483 Review.

3

Maternal uniparental heterodisomy of chromosome 14: chromosomal mechanism and clinical follow up.

Sanlaville D, Aubry MC, Dumez Y, Nolen MC, Amiel J, Pinson MP, Lyonnet S, Munnich A, Vekemans M, Morichon-Delvallez N. Sanlaville D, et al. J Med Genet. 2000 Jul;37(7):525-8. doi: 10.1136/jmg.37.7.525. J Med Genet. 2000. PMID: 10882756 Free PMC article.

4

A CGH study of 27 patients with CHARGE association.

Sanlaville D, Romana SP, Lapierre JM, Amiel J, Genevieve D, Ozilou C, Le Lorch M, Brisset S, Gosset P, Baumann C, Turleau C, Lyonnet S, Vekemans M. Sanlaville D, et al. Clin Genet. 2002 Feb;61(2):135-8. doi: 10.1034/j.1399-0004.2002.610208.x. Clin Genet. 2002. PMID: 11940088

5

Clinical overlap of OFD type IX with Pallister-Killian syndrome (tetrasomy 12p).

Geneviève D, Sznajer Y, Raoul M, Sanlaville D, Verloes A, Portnoï MF, Bauman C. Geneviève D, et al. Among authors: sanlaville d. Am J Med Genet A. 2003 Oct 1;122A(2):180-2. doi: 10.1002/ajmg.a.20306. Am J Med Genet A. 2003. PMID: 12955773 No abstract available.

6

Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome.

Baujat G, Rio M, Rossignol S, Sanlaville D, Lyonnet S, Le Merrer M, Munnich A, Gicquel C, Cormier-Daire V, Colleaux L. Baujat G, et al. Among authors: sanlaville d. Am J Hum Genet. 2004 Apr;74(4):715-20. doi: 10.1086/383093. Epub 2004 Mar 1. Am J Hum Genet. 2004. PMID: 14997421 Free PMC article.

7

A novel form of syndromic cutis laxa with facial dysmorphism, cleft palate, and mental retardation.

Genevieve D, Baumann C, Huber C, Faivre L, Sanlaville D, Bodemer C, Hadj-Rabia S, Assoumou A, Verloes A, Raqbi F, Munnich A, Cormier-Daire V. Genevieve D, et al. Among authors: sanlaville d. J Med Genet. 2004 Jun;41(6):e77. doi: 10.1136/jmg.2003.013573. J Med Genet. 2004. PMID: 15173243 Free PMC article. No abstract available.

8

Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation.

Borck G, Rio M, Sanlaville D, Redon R, Molinari F, Bacq D, Raoul O, Cormier-Daire V, Lyonnet S, Amiel J, Le Merrer M, de Blois MC, Prieur M, Vekemans M, Carter NP, Munnich A, Colleaux L. Borck G, et al. Among authors: sanlaville d. Clin Genet. 2004 Aug;66(2):122-7. doi: 10.1111/j.1399-0004.2004.00288.x. Clin Genet. 2004. PMID: 15253762

9

Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature.

Geneviève D, Amiel J, Viot G, Le Merrer M, Sanlaville D, Urtizberea A, Gérard M, Munnich A, Cormier-Daire V, Lyonnet S. Geneviève D, et al. Among authors: sanlaville d. Am J Med Genet A. 2004 Aug 15;129A(1):64-8. doi: 10.1002/ajmg.a.30144. Am J Med Genet A. 2004. PMID: 15266618 Review.

10

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: sanlaville d. 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.

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