Vekemans M - Search Results

1

PMX2B, a new candidate gene for Hirschsprung's disease.

Benailly HK, Lapierre JM, Laudier B, Amiel J, Attié T, De Blois MC, Vekemans M, Romana SP. Benailly HK, et al. Among authors: vekemans m. Clin Genet. 2003 Sep;64(3):204-9. doi: 10.1034/j.1399-0004.2003.00105.x. Clin Genet. 2003. PMID: 12919134

2

Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature.

Faivre L, Gosset P, Cormier-Daire V, Odent S, Amiel J, Giurgea I, Nassogne MC, Pasquier L, Munnich A, Romana S, Prieur M, Vekemans M, De Blois MC, Turleau C. Faivre L, et al. Among authors: vekemans m. Eur J Hum Genet. 2002 Nov;10(11):699-706. doi: 10.1038/sj.ejhg.5200879. Eur J Hum Genet. 2002. PMID: 12404101

3

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. Among authors: vekemans m. Clin Genet. 2002 Feb;61(2):135-8. doi: 10.1034/j.1399-0004.2002.610208.x. Clin Genet. 2002. PMID: 11940088

4

Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region.

Chaabouni M, Le Merrer M, Raoul O, Prieur M, de Blois MC, Philippe A, Vekemans M, Romana SP. Chaabouni M, et al. Among authors: vekemans m. Eur J Med Genet. 2006 May-Jun;49(3):255-63. doi: 10.1016/j.ejmg.2005.07.001. Epub 2005 Aug 18. Eur J Med Genet. 2006. PMID: 16762827

5

Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH.

Rio M, Royer G, Gobin S, de Blois MC, Ozilou C, Bernheim A, Nizon M, Munnich A, Bonnefont JP, Romana S, Vekemans M, Turleau C, Malan V. Rio M, et al. Among authors: vekemans m. Clin Genet. 2013 Jul;84(1):31-6. doi: 10.1111/cge.12036. Epub 2012 Nov 4. Clin Genet. 2013. PMID: 23061379

6

Ebstein anomaly associated with rearrangements of chromosomal region 11q.

de Lonlay-Debeney P, de Blois MC, Bonnet D, Amiel J, Abadie V, Picq M, Lyonnet S, Sidi D, Munnich A, Vekemans M, Cormier-Daire V. de Lonlay-Debeney P, et al. Among authors: vekemans m. Am J Med Genet. 1998 Nov 2;80(2):157-9. doi: 10.1002/(sici)1096-8628(19981102)80:2<157::aid-ajmg12>3.0.co;2-u. Am J Med Genet. 1998. PMID: 9805133

7

Comparative genomic hybridisation in mentally retarded patients with dysmorphic features and a normal karyotype.

Joly G, Lapierre JM, Ozilou C, Gosset P, Aurias A, de Blois MC, Prieur M, Raoul O, Colleaux L, Munnich A, Romana S, Vekemans M, Turleau C. Joly G, et al. Among authors: vekemans m. Clin Genet. 2001 Sep;60(3):212-9. doi: 10.1034/j.1399-0004.2001.600307.x. Clin Genet. 2001. PMID: 11595023

8

Molecular characterization of partial trisomy 16q24.1-qter: clinical report and review of the literature.

Brisset S, Joly G, Ozilou C, Lapierre JM, Gosset P, LeLorc'h M, Raoul O, Turleau C, Vekemans M, Romana SP. Brisset S, et al. Among authors: vekemans m. Am J Med Genet. 2002 Dec 15;113(4):339-45. doi: 10.1002/ajmg.b.10740. Am J Med Genet. 2002. PMID: 12457405 Review.

9

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.

Amiel J, Laudier B, Attié-Bitach T, Trang H, de Pontual L, Gener B, Trochet D, Etchevers H, Ray P, Simonneau M, Vekemans M, Munnich A, Gaultier C, Lyonnet S. Amiel J, et al. Among authors: vekemans m. Nat Genet. 2003 Apr;33(4):459-61. doi: 10.1038/ng1130. Epub 2003 Mar 17. Nat Genet. 2003. PMID: 12640453

10

Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse).

de Pontual L, Népote V, Attié-Bitach T, Al Halabiah H, Trang H, Elghouzzi V, Levacher B, Benihoud K, Augé J, Faure C, Laudier B, Vekemans M, Munnich A, Perricaudet M, Guillemot F, Gaultier C, Lyonnet S, Simonneau M, Amiel J. de Pontual L, et al. Among authors: vekemans m. Hum Mol Genet. 2003 Dec 1;12(23):3173-80. doi: 10.1093/hmg/ddg339. Epub 2003 Oct 7. Hum Mol Genet. 2003. PMID: 14532329

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