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Results: 8

1.

Subtelomeric monosomy 11q and trisomy 16q in siblings and an unrelated child: molecular characterization of two der(11)t(11;16).

Basinko A, Audebert-Bellanger S, Douet-Guilbert N, Le Franc J, Parent P, Quemener S, La Selve P, Bovo C, Morel F, Le Bris MJ, De Braekeleer M.

Am J Med Genet A. 2011 Sep;155A(9):2281-7. doi: 10.1002/ajmg.a.34162. Epub 2011 Aug 10.

PMID:
21834034
[PubMed - indexed for MEDLINE]
2.

Relevance of both individual risk factors and occupational exposure in cancer survival studies: the example of intestinal type sinonasal adenocarcinoma.

Tripodi D, Ferron C, Malard O, de Montreuil CB, Planche L, Sebille-Rivain V, Roedlich C, Quéméner S, Renaudin K, Longuenesse C, Verger C, Meflah K, Gratas C, Géraut C.

Laryngoscope. 2011 Sep;121(9):2011-8. doi: 10.1002/lary.21900. Epub 2011 Jul 25.

PMID:
21792978
[PubMed - indexed for MEDLINE]
3.

Balanced transmission of a paternal complex chromosomal rearrangement involving chromosomes 2, 3, and 18.

Basinko A, Perrin A, Nguyen HA, Morel F, Le Bris MJ, Saliou AH, Collet M, Parent P, Benech C, Quemener S, Ferec C, Douet-Guilbert N, De Braekeleer M.

Am J Med Genet A. 2010 Oct;152A(10):2646-50. doi: 10.1002/ajmg.a.32982. No abstract available.

PMID:
20830794
[PubMed - indexed for MEDLINE]
4.

Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci.

Quemener S, Chen JM, Chuzhanova N, Bénech C, Casals T, Macek M Jr, Bienvenu T, McDevitt T, Farrell PM, Loumi O, Messaoud T, Cuppens H, Cutting GR, Stenson PD, Giteau K, Audrézet MP, Cooper DN, Férec C.

Hum Mutat. 2010 Apr;31(4):421-8. doi: 10.1002/humu.21196.

PMID:
20052766
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Gene expression profiling in sinonasal adenocarcinoma.

Tripodi D, Quéméner S, Renaudin K, Ferron C, Malard O, Guisle-Marsollier I, Sébille-Rivain V, Verger C, Géraut C, Gratas-Rabbia-Ré C.

BMC Med Genomics. 2009 Nov 10;2:65. doi: 10.1186/1755-8794-2-65.

PMID:
19903339
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Elucidation of the complex structure and origin of the human trypsinogen locus triplication.

Chauvin A, Chen JM, Quemener S, Masson E, Kehrer-Sawatzki H, Ohmle B, Cooper DN, Le Maréchal C, Férec C.

Hum Mol Genet. 2009 Oct 1;18(19):3605-14. doi: 10.1093/hmg/ddp308. Epub 2009 Jul 7.

PMID:
19584086
[PubMed - indexed for MEDLINE]
Free Article
7.

Homozygous deletion of HFE produces a phenotype similar to the HFE p.C282Y/p.C282Y genotype.

Le Gac G, Gourlaouen I, Ronsin C, Géromel V, Bourgarit A, Parquet N, Quemener S, Le Maréchal C, Chen JM, Férec C.

Blood. 2008 Dec 15;112(13):5238-40. doi: 10.1182/blood-2008-07-167296. Epub 2008 Sep 22.

PMID:
18809761
[PubMed - indexed for MEDLINE]
Free Article
8.

Deletion size characterization of der(9) deletions in Philadelphia-positive chronic myeloid leukemia.

Douet-Guilbert N, Morel F, Quemener S, Maguer A, Le Bris MJ, Morice P, Berthou C, De Braekeleer M.

Cancer Genet Cytogenet. 2006 Oct 15;170(2):89-92.

PMID:
17011977
[PubMed - indexed for MEDLINE]

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