Search details
1.
Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.
Blood
; 132(5): 469-483, 2018 08 02.
Article
in English
| MEDLINE | ID: mdl-29891534
2.
The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium.
J Med Genet
; 55(1): 15-20, 2018 01.
Article
in English
| MEDLINE | ID: mdl-28490613
3.
Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers.
Breast Cancer Res
; 20(1): 28, 2018 04 17.
Article
in English
| MEDLINE | ID: mdl-29665859
4.
Telomere length, ATM mutation status and cancer risk in Ataxia-Telangiectasia families.
Carcinogenesis
; 38(10): 994-1003, 2017 10 01.
Article
in English
| MEDLINE | ID: mdl-28981872
5.
Rapid-onset paraneoplastic cerebellar degeneration successfully treated by radiotherapy and tumorectomy.
Int Cancer Conf J
; 12(1): 19-23, 2023 Jan.
Article
in English
| MEDLINE | ID: mdl-36605832
6.
Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma.
J Med Genet
; 48(4): 226-34, 2011 Apr.
Article
in English
| MEDLINE | ID: mdl-21398687
7.
Cancer predisposing missense and protein truncating BARD1 mutations in non-BRCA1 or BRCA2 breast cancer families.
Hum Mutat
; 31(3): E1175-85, 2010 Mar.
Article
in English
| MEDLINE | ID: mdl-20077502
8.
Primary leptomeningeal melanoma is part of the BAP1-related cancer syndrome.
Acta Neuropathol
; 129(6): 921-3, 2015 Jun.
Article
in English
| MEDLINE | ID: mdl-25900292
9.
The contribution of large genomic deletions at the CDKN2A locus to the burden of familial melanoma.
Br J Cancer
; 99(2): 364-70, 2008 Jul 22.
Article
in English
| MEDLINE | ID: mdl-18612309
10.
Germline PTPN11 missense mutation in a case of Noonan syndrome associated with mediastinal and retroperitoneal neuroblastic tumors.
Cancer Genet Cytogenet
; 182(1): 40-2, 2008 Apr 01.
Article
in English
| MEDLINE | ID: mdl-18328949
11.
BRCA1, BRCA2, TP53, and CDKN2A germline mutations in patients with breast cancer and cutaneous melanoma.
Fam Cancer
; 6(4): 453-61, 2007.
Article
in English
| MEDLINE | ID: mdl-17624602
12.
Diffuse cortical atrophy in a patient with Turner syndrome and Leber hereditary optic neuropathy.
J Neurol
; 252(2): 232-3, 2005 Feb.
Article
in English
| MEDLINE | ID: mdl-15729534
13.
Ataxia-telangiectasia genes and breast cancer risk in a French family study.
J Dairy Res
; 72 Spec No: 73-80, 2005.
Article
in English
| MEDLINE | ID: mdl-16180724
14.
Variation in breast cancer risk of heterozygotes for ataxia-telangiectasia according to environmental factors.
Int J Cancer
; 99(4): 619-23, 2002 Jun 01.
Article
in English
| MEDLINE | ID: mdl-11992555
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