Stoppa-Lyonnet D - Search Results

1

Molecular defects of the C1-inhibitor gene in hereditary angioedema.

Tosi M, Stoppa-Lyonnet D, Carter P, Meo T. Tosi M, et al. Behring Inst Mitt. 1989 Jul;(84):173-9. Behring Inst Mitt. 1989. PMID: 2572212 Review.

2

Recombinational biases in the rearranged C1-inhibitor genes of hereditary angioedema patients.

Stoppa-Lyonnet D, Duponchel C, Meo T, Laurent J, Carter PE, Arala-Chaves M, Cohen JH, Dewald G, Goetz J, Hauptmann G, et al. Stoppa-Lyonnet D, et al. Am J Hum Genet. 1991 Nov;49(5):1055-62. Am J Hum Genet. 1991. PMID: 1656734 Free PMC article.

3

Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements.

Stoppa-Lyonnet D, Carter PE, Meo T, Tosi M. Stoppa-Lyonnet D, et al. Proc Natl Acad Sci U S A. 1990 Feb;87(4):1551-5. doi: 10.1073/pnas.87.4.1551. Proc Natl Acad Sci U S A. 1990. PMID: 2154751 Free PMC article.

4

Altered C1 inhibitor genes in type I hereditary angioedema.

Stoppa-Lyonnet D, Tosi M, Laurent J, Sobel A, Lagrue G, Meo T. Stoppa-Lyonnet D, et al. N Engl J Med. 1987 Jul 2;317(1):1-6. doi: 10.1056/NEJM198707023170101. N Engl J Med. 1987. PMID: 3587308

5

Screening of male breast cancer and of breast-ovarian cancer families for BRCA2 mutations using large bifluorescent amplicons.

Pages S, Caux V, Stoppa-Lyonnet D, Tosi M. Pages S, et al. Br J Cancer. 2001 Feb;84(4):482-8. doi: 10.1054/bjoc.2000.1627. Br J Cancer. 2001. PMID: 11207042 Free PMC article.

6

Diagnostic strategy for analytical scanning of BRCA1 gene by fluorescence-assisted mismatch analysis using large, bifluorescently labeled amplicons.

Ricevuto E, Sobol H, Stoppa-Lyonnet D, Gulino A, Marchetti P, Ficorella C, Martinotti S, Meo T, Tosi M. Ricevuto E, et al. Clin Cancer Res. 2001 Jun;7(6):1638-46. Clin Cancer Res. 2001. PMID: 11410501

7

Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments.

Casilli F, Di Rocco ZC, Gad S, Tournier I, Stoppa-Lyonnet D, Frebourg T, Tosi M. Casilli F, et al. Hum Mutat. 2002 Sep;20(3):218-26. doi: 10.1002/humu.10108. Hum Mutat. 2002. PMID: 12203994

8

Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF.

Houdayer C, Gauthier-Villars M, Laugé A, Pagès-Berhouet S, Dehainault C, Caux-Moncoutier V, Karczynski P, Tosi M, Doz F, Desjardins L, Couturier J, Stoppa-Lyonnet D. Houdayer C, et al. Hum Mutat. 2004 Feb;23(2):193-202. doi: 10.1002/humu.10303. Hum Mutat. 2004. PMID: 14722923

9

Characterisation of a 161 kb deletion extending from the NBR1 to the BRCA1 genes in a French breast-ovarian cancer family.

Gad S, Bièche I, Barrois M, Casilli F, Pages-Berhouet S, Dehainault C, Gauthier-Villars M, Bensimon A, Aurias A, Lidereau R, Bressac-de Paillerets B, Tosi M, Mazoyer S, Stoppa-Lyonnet D. Gad S, et al. Hum Mutat. 2003 Jun;21(6):654. doi: 10.1002/humu.9148. Hum Mutat. 2003. PMID: 14961556

10

Analysis of the allele-specific expression of the mismatch repair gene MLH1 using a simple DHPLC-Based Method.

Tournier I, Raux G, Di Fiore F, Maréchal I, Leclerc C, Martin C, Wang Q, Buisine MP, Stoppa-Lyonnet D, Olschwang S, Frébourg T, Tosi M. Tournier I, et al. Hum Mutat. 2004 Apr;23(4):379-84. doi: 10.1002/humu.20008. Hum Mutat. 2004. PMID: 15024732

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