Stoppa-Lyonnet D - Search Results

1

DNA repair functional analyses of NBN hypomorphic variants associated with NBN-related infertility.

Fiévet A, Bellanger D, Zahed L, Burglen L, Derrien AC, Dubois d'Enghien C, Lespinasse J, Parfait B, Pedespan JM, Rieunier G, Stoppa-Lyonnet D, Stern MH. Fiévet A, et al. Hum Mutat. 2020 Mar;41(3):608-618. doi: 10.1002/humu.23955. Epub 2019 Nov 28. Hum Mutat. 2020. PMID: 31729086

2

Inactivation of the ATM gene in T-cell prolymphocytic leukemias.

Stoppa-Lyonnet D, Soulier J, Laugé A, Dastot H, Garand R, Sigaux F, Stern MH. Stoppa-Lyonnet D, et al. Blood. 1998 May 15;91(10):3920-6. Blood. 1998. PMID: 9573030 Free article.

3

No germline ATM mutation in a series of 16T-cell prolymphocytic leukemias.

Stoppa-Lyonnet D, Laugé A, Sigaux F, Stern MH. Stoppa-Lyonnet D, et al. Blood. 2000 Jul 1;96(1):374-6. Blood. 2000. PMID: 10939806 No abstract available.

4

Phenotypic cellular characterization of an ataxia telangiectasia patient carrying a causal homozygous missense mutation.

Angèle S, Laugé A, Fernet M, Moullan N, Beauvais P, Couturier J, Stoppa-Lyonnet D, Hall J. Angèle S, et al. Hum Mutat. 2003 Feb;21(2):169-70. doi: 10.1002/humu.9107. Hum Mutat. 2003. PMID: 12552566

5

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

6

Chromosomal instability in two siblings with gonad deficiency: case report.

Lespinasse J, Hoffmann P, Lauge A, Stoppa-Lyonnet D, Felmann F, Pons JC, Lesca G. Lespinasse J, et al. Hum Reprod. 2005 Jan;20(1):158-62. doi: 10.1093/humrep/deh584. Epub 2004 Dec 2. Hum Reprod. 2005. PMID: 15576395

7

X inactive-specific transcript RNA coating and genetic instability of the X chromosome in BRCA1 breast tumors.

Vincent-Salomon A, Ganem-Elbaz C, Manié E, Raynal V, Sastre-Garau X, Stoppa-Lyonnet D, Stern MH, Heard E. Vincent-Salomon A, et al. Cancer Res. 2007 Jun 1;67(11):5134-40. doi: 10.1158/0008-5472.CAN-07-0465. Cancer Res. 2007. PMID: 17545591

8

Three new BLM gene mutations associated with Bloom syndrome.

Amor-Guéret M, Dubois-d'Enghien C, Laugé A, Onclercq-Delic R, Barakat A, Chadli E, Bousfiha AA, Benjelloun M, Flori E, Doray B, Laugel V, Lourenço MT, Gonçalves R, Sousa S, Couturier J, Stoppa-Lyonnet D. Amor-Guéret M, et al. Genet Test. 2008 Jun;12(2):257-61. doi: 10.1089/gte.2007.0119. Genet Test. 2008. PMID: 18471088

9

Fertility defects revealing germline biallelic nonsense NBN mutations.

Warcoin M, Lespinasse J, Despouy G, Dubois d'Enghien C, Laugé A, Portnoï MF, Christin-Maitre S, Stoppa-Lyonnet D, Stern MH. Warcoin M, et al. Hum Mutat. 2009 Mar;30(3):424-30. doi: 10.1002/humu.20904. Hum Mutat. 2009. PMID: 19105185

10

High frequency of TP53 mutation in BRCA1 and sporadic basal-like carcinomas but not in BRCA1 luminal breast tumors.

Manié E, Vincent-Salomon A, Lehmann-Che J, Pierron G, Turpin E, Warcoin M, Gruel N, Lebigot I, Sastre-Garau X, Lidereau R, Remenieras A, Feunteun J, Delattre O, de Thé H, Stoppa-Lyonnet D, Stern MH. Manié E, et al. Cancer Res. 2009 Jan 15;69(2):663-71. doi: 10.1158/0008-5472.CAN-08-1560. Cancer Res. 2009. PMID: 19147582

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