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Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.
Houdayer C, Caux-Moncoutier V, Krieger S, Barrois M, Bonnet F, Bourdon V, Bronner M, Buisson M, Coulet F, Gaildrat P, Lefol C, Léone M, Mazoyer S, Muller D, Remenieras A, Révillion F, Rouleau E, Sokolowska J, Vert JP, Lidereau R, Soubrier F, Sobol H, Sevenet N, Bressac-de Paillerets B, Hardouin A, Tosi M, Sinilnikova OM, Stoppa-Lyonnet D. Houdayer C, et al. Among authors: sobol h. Hum Mutat. 2012 Aug;33(8):1228-38. doi: 10.1002/humu.22101. Epub 2012 May 11. Hum Mutat. 2012. PMID: 22505045
Segregation of two BRCA1 mutations in a single family.
Stoppa-Lyonnet D, Fricker JP, Essioux L, Pages S, Limacher JM, Sobol H, Laurent-Puig P, Thomas G. Stoppa-Lyonnet D, et al. Among authors: sobol h. Am J Hum Genet. 1996 Aug;59(2):479-81. Am J Hum Genet. 1996. PMID: 8755940 Free PMC article. No abstract available.
Mutations at BRCA1: the medullary breast carcinoma revisited.
Eisinger F, Jacquemier J, Charpin C, Stoppa-Lyonnet D, Bressac-de Paillerets B, Peyrat JP, Longy M, Guinebretière JM, Sauvan R, Noguchi T, Birnbaum D, Sobol H. Eisinger F, et al. Among authors: sobol h. Cancer Res. 1998 Apr 15;58(8):1588-92. Cancer Res. 1998. PMID: 9563465
Marker segregation information in breast/ovarian cancer genetic counseling: is it still useful? Groupe Génétique et Cancer de la Fédération Nationale des Centres de Lutte Contre le Cancer.
Essioux L, Girodet C, Sinilnikova O, Pagès S, Eisinger F, de Résende S, Maugard C, Lanoë D, Longy M, Bignon YJ, Sobol H, Bonaïti-Pellié C, Stoppa-Lyonnet D. Essioux L, et al. Among authors: sobol h. Am J Med Genet. 1998 Sep 23;79(3):175-83. doi: 10.1002/(sici)1096-8628(19980923)79:3<175::aid-ajmg5>3.0.co;2-m. Am J Med Genet. 1998. PMID: 9788557
Testing for BRCA1 mutations: a cost-effectiveness analysis.
Sevilla C, Moatti JP, Julian-Reynier C, Eisinger F, Stoppa-Lyonnet D, Bressac-de Paillerets B, Sobol H. Sevilla C, et al. Among authors: sobol h. Eur J Hum Genet. 2002 Oct;10(10):599-606. doi: 10.1038/sj.ejhg.5200854. Eur J Hum Genet. 2002. PMID: 12357330
234 results