Goossens M - Search Results

1

Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver-Russell syndrome.

Flori E, Girodon E, Samama B, Becmeur F, Viville B, Girard-Lemaire F, Doray B, Schluth C, Marcellin L, Boehm N, Goossens M, Pingault V. Flori E, et al. Among authors: goossens m. Eur J Hum Genet. 2005 Sep;13(9):1013-8. doi: 10.1038/sj.ejhg.5201442. Eur J Hum Genet. 2005. PMID: 15915162

2

Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4.

Bondurand N, Fouquet V, Baral V, Lecerf L, Loundon N, Goossens M, Duriez B, Labrune P, Pingault V. Bondurand N, et al. Among authors: goossens m. Eur J Hum Genet. 2012 Sep;20(9):990-4. doi: 10.1038/ejhg.2012.29. Epub 2012 Feb 29. Eur J Hum Genet. 2012. PMID: 22378281 Free PMC article.

3

Frequent occurrence of the CFTR intron 8 (TG)n 5T allele in men with congenital bilateral absence of the vas deferens.

Costes B, Girodon E, Ghanem N, Flori E, Jardin A, Soufir JC, Goossens M. Costes B, et al. Among authors: goossens m. Eur J Hum Genet. 1995;3(5):285-93. doi: 10.1159/000472312. Eur J Hum Genet. 1995. PMID: 8556303

4

A neutral variant involved in a complex CFTR allele contributes to a severe cystic fibrosis phenotype.

Clain J, Lehmann-Che J, Girodon E, Lipecka J, Edelman A, Goossens M, Fanen P. Clain J, et al. Among authors: goossens m. Hum Genet. 2005 May;116(6):454-60. doi: 10.1007/s00439-004-1246-z. Epub 2005 Mar 3. Hum Genet. 2005. PMID: 15744523

5

Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.

Bondurand N, Dastot-Le Moal F, Stanchina L, Collot N, Baral V, Marlin S, Attie-Bitach T, Giurgea I, Skopinski L, Reardon W, Toutain A, Sarda P, Echaieb A, Lackmy-Port-Lis M, Touraine R, Amiel J, Goossens M, Pingault V. Bondurand N, et al. Among authors: goossens m. Am J Hum Genet. 2007 Dec;81(6):1169-85. doi: 10.1086/522090. Epub 2007 Oct 22. Am J Hum Genet. 2007. PMID: 17999358 Free PMC article.

6

Review and update of mutations causing Waardenburg syndrome.

Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N. Pingault V, et al. Among authors: goossens m. Hum Mutat. 2010 Apr;31(4):391-406. doi: 10.1002/humu.21211. Hum Mutat. 2010. PMID: 20127975 Free article. Review.

7

Notable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies.

de Becdelièvre A, Costa C, LeFloch A, Legendre M, Jouannic JM, Vigneron J, Bresson JL, Gobin S, Martin J, Goossens M, Girodon E. de Becdelièvre A, et al. Among authors: goossens m. Eur J Hum Genet. 2010 Oct;18(10):1166-9. doi: 10.1038/ejhg.2010.80. Epub 2010 May 26. Eur J Hum Genet. 2010. PMID: 20512161 Free PMC article.

8

SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism.

Pingault V, Girard M, Bondurand N, Dorkins H, Van Maldergem L, Mowat D, Shimotake T, Verma I, Baumann C, Goossens M. Pingault V, et al. Among authors: goossens m. Hum Genet. 2002 Aug;111(2):198-206. doi: 10.1007/s00439-002-0765-8. Epub 2002 Jul 6. Hum Genet. 2002. PMID: 12189494

9

Prenatal diagnosis of hemoglobinopathies.

Girodon E, Ghanem N, Goossens M. Girodon E, et al. Among authors: goossens m. J Int Fed Clin Chem. 1995 Apr;7(2):54-61. J Int Fed Clin Chem. 1995. PMID: 10155720 Review.

10

A one-step real-time PCR assay for rapid prenatal diagnosis of sickle cell disease and detection of maternal contamination.

Costa C, Pissard S, Girodon E, Huot D, Goossens M. Costa C, et al. Among authors: goossens m. Mol Diagn. 2003;7(1):45-8. doi: 10.1007/BF03260020. Mol Diagn. 2003. PMID: 14529320

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