Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 14

1.

Endoscopic Phenotype of Monoallelic Carriers of MUTYH Gene Mutations in the Family of Polyposis Patients: A Prospective Study.

El Hachem N, Abadie C, Longy M, Colas C, Fert-Ferrer S, Leroux D, Grandval P, Prieur F, Collonge-Rame M, Faivre L, Fricker JP, Zerbib F, Coupier I, Cauchin E, Pinson S, Saurin JC.

Dis Colon Rectum. 2019 Apr;62(4):470-475. doi: 10.1097/DCR.0000000000001323.

PMID:
30640315
2.

Landscape of pathogenic variations in a panel of 34 genes and cancer risk estimation from 5131 HBOC families.

Castéra L, Harter V, Muller E, Krieger S, Goardon N, Ricou A, Rousselin A, Paimparay G, Legros A, Bruet O, Quesnelle C, Domin F, San C, Brault B, Fouillet R, Abadie C, Béra O, Berthet P; French Exome Project Consortium, Frébourg T, Vaur D.

Genet Med. 2018 Dec;20(12):1677-1686. doi: 10.1038/s41436-018-0005-9. Epub 2018 Jul 10.

PMID:
29988077
3.

Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers.

Golmard L, Castéra L, Krieger S, Moncoutier V, Abidallah K, Tenreiro H, Laugé A, Tarabeux J, Millot GA, Nicolas A, Laé M, Abadie C, Berthet P, Polycarpe F, Frébourg T, Elan C, de Pauw A, Gauthier-Villars M, Buecher B, Stern MH, Stoppa-Lyonnet D, Vaur D, Houdayer C.

Eur J Hum Genet. 2017 Dec;25(12):1345-1353. doi: 10.1038/s41431-017-0021-2. Epub 2017 Nov 8.

4.

BRCA1 allele-specific expression in genetic predisposed breast/ovarian cancer.

Jamard E, Volard B, Dugué AE, Legros A, Leconte A, Clarisse B, Davy G, Polycarpe F, Dugast C, Abadie C, Frebourg T, Tinat J, Tennevet I, Layet V, Joly F, Castéra L, Berthet P, Vaur D, Krieger S.

Fam Cancer. 2017 Apr;16(2):167-171. doi: 10.1007/s10689-016-9940-2.

PMID:
27783335
5.

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.

Moutton S, Fergelot P, Naudion S, Cordier MP, Solé G, Guerineau E, Hubert C, Rooryck C, Vuillaume ML, Houcinat N, Deforges J, Bouron J, Devès S, Le Merrer M, David A, Geneviève D, Giuliano F, Journel H, Megarbane A, Faivre L, Chassaing N, Francannet C, Sarrazin E, Stattin EL, Vigneron J, Leclair D, Abadie C, Sarda P, Baumann C, Delrue MA, Arveiler B, Lacombe D, Goizet C, Coupry I.

J Hum Genet. 2016 Aug;61(8):693-9. doi: 10.1038/jhg.2016.37. Epub 2016 May 19.

PMID:
27193221
6.

Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk.

Baert-Desurmont S, Charbonnier F, Houivet E, Ippolito L, Mauillon J, Bougeard M, Abadie C, Malka D, Duffour J, Desseigne F, Colas C, Pujol P, Lejeune S, Dugast C, Buecher B, Faivre L, Leroux D, Gesta P, Coupier I, Guimbaud R, Berthet P, Manouvrier S, Cauchin E, Prieur F, Laurent-Puig P, Lebrun M, Jonveaux P, Chiesa J, Caron O, Morin-Meschin ME, Polycarpe-Osaer F, Giraud S, Zaanan A, Bonnet D, Mansuy L, Bonadona V, El Chehadeh S, Duhoux F, Gauthier-Villars M, Saurin JC, Collonge-Rame MA, Brugières L, Wang Q, Bressac-de Paillerets B, Rey JM, Toulas C, Buisine MP, Bronner M, Sokolowska J, Hardouin A, Cailleux AF, Sebaoui H, Blot J, Tinat J, Benichou J, Frebourg T.

Eur J Hum Genet. 2016 Jan;24(1):99-105. doi: 10.1038/ejhg.2015.72. Epub 2015 Apr 15.

7.

[Children cancer predisposition syndromes].

Abadie C, Brugières L, Gauthier-Villars M.

Rev Prat. 2014 Nov;64(9):1273-5. Review. French. No abstract available.

PMID:
25638869
8.

Renal cell tumour characteristics in patients with the Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre study.

Benusiglio PR, Giraud S, Deveaux S, Méjean A, Correas JM, Joly D, Timsit MO, Ferlicot S, Verkarre V, Abadie C, Chauveau D, Leroux D, Avril MF, Cordier JF, Richard S; French National Cancer Institute Inherited Predisposition to Kidney Cancer Network.

Orphanet J Rare Dis. 2014 Oct 29;9:163. doi: 10.1186/s13023-014-0163-z.

9.

Involvement of germline DDX1-MYCN duplication in inherited nephroblastoma.

Fievet A, Belaud-Rotureau MA, Dugay F, Abadie C, Henry C, Taque S, Andrieux J, Guyetant S, Robert M, Dubourg C, Edan C, Rioux-Leclercq N, Odent S, Jaillard S.

Eur J Med Genet. 2013 Dec;56(12):643-7. doi: 10.1016/j.ejmg.2013.10.004. Epub 2013 Oct 24.

PMID:
24161495
10.

Letter to the editor: Pregnancy and von Hippel-Lindau disease.

Frantzen C, van Asselt SJ, Kruizinga RC, Abadie C, Coupier I, Richard S, Alsmeier G, Graff JW, van Pampus MG, Giles RH, Links TP.

J Neurosurg. 2013 Jun;118(6):1380. doi: 10.3171/2012.11.JNS122145. Epub 2013 Apr 12. No abstract available.

PMID:
23581592
11.

Neuroblastoma and tooth abnormalities: a common history?

Abadie C, Lechaix B, Gandemer V, Bonnaure-Mallet M.

Oral Oncol. 2013 Apr;49(4):e11-3. doi: 10.1016/j.oraloncology.2012.12.013. Epub 2013 Jan 22. No abstract available.

12.

Non-USH2A mutations in USH2 patients.

Besnard T, Vaché C, Baux D, Larrieu L, Abadie C, Blanchet C, Odent S, Blanchet P, Calvas P, Hamel C, Dollfus H, Lina-Granade G, Lespinasse J, David A, Isidor B, Morin G, Malcolm S, Tuffery-Giraud S, Claustres M, Roux AF.

Hum Mutat. 2012 Mar;33(3):504-10. doi: 10.1002/humu.22004. Epub 2012 Jan 6.

PMID:
22147658
13.

Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy.

Vaché C, Besnard T, le Berre P, García-García G, Baux D, Larrieu L, Abadie C, Blanchet C, Bolz HJ, Millan J, Hamel C, Malcolm S, Claustres M, Roux AF.

Hum Mutat. 2012 Jan;33(1):104-8. doi: 10.1002/humu.21634. Epub 2011 Nov 16.

PMID:
22009552
14.

Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes.

Le Guédard-Méreuze S, Vaché C, Baux D, Faugère V, Larrieu L, Abadie C, Janecke A, Claustres M, Roux AF, Tuffery-Giraud S.

Hum Mutat. 2010 Mar;31(3):347-55. doi: 10.1002/humu.21193.

PMID:
20052763

Supplemental Content

Loading ...
Support Center