Results 231 to 240 of about 64,503 (262)

Arg120stop nonsense mutation in the RP2 gene: mutational hotspot and germ line mosaicism?

Clinical Genetics, 2003
Mutations in the RP2 gene account for up to 20% of X‐linked recessive retinitis pigmentosa (RP). Arg120stop is to date the most frequently reported mutation found in RP2. Mutation screening was performed during the course of a large screening program of retinal degenerative disorders (RDDs) in South Africa using exon 1 and 2 of RP2 in 20 unrelated ...
A A, Vorster, M T, Rebello, N, Coutts, L, Ehrenreich, A D, Gama, L J, Roberts, R, Goliath, R, Ramesar, L J, Greenberg   +8 more
openaire   +2 more sources

Incomplete penetrance of the predisposition to medulloblastoma associated with germ-line SUFU mutations

Journal of Medical Genetics, 2009
Methods and results Germline SUFU mutations were identified in two families with several children under 3 years of age diagnosed with medulloblastoma. All medulloblastomas in which the histology was reviewed were of the desmoplastic subtype, including three with the rare extensive nodularity subtype.
Laurence, Brugières, Gaëlle, Pierron, Agnès, Chompret, Brigitte Bressac-de, Paillerets, Federico, Di Rocco, Pascale, Varlet, Alain, Pierre-Kahn, Olivier, Caron, Jacques, Grill, Olivier, Delattre   +9 more
openaire   +2 more sources

Sarcoma and germ-line DICER1 mutations

The Lancet Oncology, 2016
Leanne, de Kock, William D, Foulkes
openaire   +2 more sources

[Germ-line mutations of the BRCA1 gene in northeastern France].

Bulletin du cancer, 2000
Thirty-seven breast/ovarian or breast-only cancer families selected on a regional basis have been analyzed for mutations at BRCA1. By combining direct sequence analysis and protein truncation test, mutations were detected in 14 families (38%). We found seven different mutations, two of which have not been described before.
J P, Fricker, D, Muller, B, Cutuli, J F, Rodier, J C, Janser, G M, Jung, R, Mors, T, Petit, P, Haegele, J, Abecassis   +9 more
openaire   +1 more source

Germ-line msh6 mutations in colorectal cancer families.

Cancer research, 1999
Hereditary nonpolyposis colorectal carcinoma (HNPCC) is due primarily to inherited mutations in two mismatch repair genes, MSH2 and MLH1, whereas germ-line mutations in other mismatch repair genes are rare. We examined the frequency of germ-line msh6 mutations in a population-based series of 140 colorectal cancer patients, including 45 sporadic cases ...
R D, Kolodner, J D, Tytell, J L, Schmeits, M F, Kane, R D, Gupta, J, Weger, S, Wahlberg, E A, Fox, D, Peel, A, Ziogas, J E, Garber, S, Syngal, H, Anton-Culver, F P, Li   +13 more
openaire   +1 more source

The spectrum of RB1 germ-line mutations in hereditary retinoblastoma.

American journal of human genetics, 1996
We have searched for germ-line RB1 mutations in 119 patients with hereditary retinoblastoma. Previous investigations by Southern blot hybridization and PCR fragment-length analysis had revealed mutations in 48 patients. Here we report on the analysis of the remaining 71 patients.
D R, Lohmann, B, Brandt, W, Höpping, E, Passarge, B, Horsthemke   +4 more
openaire   +1 more source

Sarcoma and germ-line DICER1 mutations – Authors’ reply

The Lancet Oncology, 2016
Mandy L, Ballinger, David M, Thomas
openaire   +2 more sources

PTEN germ-line mutations in juvenile polyposis coli

Nature Genetics, 1998
S, Olschwang, O M, Serova-Sinilnikova, G M, Lenoir, G, Thomas   +3 more
openaire   +2 more sources

<p>Metastatic Castration-Resistant Prostate Cancer with Neuroendocrine Transformation and BRCA 1 Germ-Line Mutation: A Case Report and Literature Review</p>

OncoTargets and Therapy, 2020
Jinbo Yue, Xue Dou
exaly  

Germ-line p53 mutation is uncommon in patients with triple primary cancers

Cancer Letters, 1993
Atsushi Ochiai, Haruhiko Sugimura, J Yokota   +2 more
exaly