Zobrazeno 1 - 10
of 261
pro vyhledávání: '"F J, Couch"'
Publikováno v:
Clinical genetics. 88(6)
Studies indicate variant of uncertain significance (VUS) results are challenging for genetic counselors and patients, often resulting in negative patient outcomes. Genetic counselors' current practices regarding VUS are unknown. This study utilized a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ecad96f9fa088fe491d9636527257275
https://pubmed.ncbi.nlm.nih.gov/25640009
https://pubmed.ncbi.nlm.nih.gov/25640009
Autor:
J. R. B. Perry, Y.-H. Hsu, D. I. Chasman, A. D. Johnson, C. Elks, E. Albrecht, I. L. Andrulis, J. Beesley, G. S. Berenson, S. Bergmann, S. E. Bojesen, M. K. Bolla, J. Brown, J. E. Buring, H. Campbell, J. Chang-Claude, G. Chenevix-Trench, T. Corre, F. J. Couch, A. Cox, K. Czene, A. P. D'adamo, G. Davies, I. J. Deary, J. Dennis, D. F. Easton, E. G. Engelhardt, J. G. Eriksson, T. Esko, P. A. Fasching
Publikováno v:
Human Molecular Genetics
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=r3c4b2081b22::7a8449b60589e44496c86193121b4315
Autor:
Shannon K. McDonnell, D J Schaid, S N Thibodeau, F J Couch, D I Schwartz, J A Carney, Mark R. Pittelkow, Lawrence J. Burgart, Lisa A. Boardman, David A. Ahlquist, Lynn C. Hartmann
Publikováno v:
Medicine. 79:293-298
Most reports describe an increased risk of malignancy in Peutz-Jeghers syndrome (PJS). We identified individuals with PJS-like pigmentation but no polyposis, designated as isolated mucocutaneous melanotic pigmentation (IMMP), and 1) characterized the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2de4e2e545c8dfa79e15d368a4aed30f
https://doi.org/10.1097/00005792-200009000-00002
https://doi.org/10.1097/00005792-200009000-00002
Autor:
Gloria M. Petersen, Kathleen M. Murphy, M. Goggins, S. T. Martin, Kieran Brune, F J Couch, Juliet Philips, Ralph H. Hruban, Charles J. Yeo, Carmelle D Rogers
Fanconi anaemia (FA) is a rare autosomal recessive disease that is characterised by bone marrow failure, pancytopenia, and an increased susceptibility to cancers. Recently, D’Andrea and coworkers identified biallelic BRCA2 gene mutations as a cause
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc9f5ed2e5798f6faa164badf4c5844c
https://europepmc.org/articles/PMC1735657/
https://europepmc.org/articles/PMC1735657/
Publikováno v:
Cancer research. 61(13)
A novel region of amplification in breast tumors has recently been identified on chromosome 17q22-23. In an effort to identify the oncogenes in the region that are targeted by the amplification process, we determined the structure of the amplicon in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::65a8dbd6dc9d564347449d85c37d45b3
https://pubmed.ncbi.nlm.nih.gov/11431322
https://pubmed.ncbi.nlm.nih.gov/11431322
Publikováno v:
Cancer research. 60(19)
Amplification of the 17q23 region occurs frequently in breast tumors. To characterize the structure of 17q23 amplicons and to identify oncogene targets associated with this alteration, we performed a copy number analysis of 87 17q23 localized express
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::23c2011551b02637782c12f6626def63
https://pubmed.ncbi.nlm.nih.gov/11034073
https://pubmed.ncbi.nlm.nih.gov/11034073
Autor:
L A, Boardman, F J, Couch, L J, Burgart, D, Schwartz, R, Berry, S K, McDonnell, D J, Schaid, L C, Hartmann, J J, Schroeder, C A, Stratakis, S N, Thibodeau
Publikováno v:
Human mutation. 16(1)
LKB1, the human gene encoding a serine threonine kinase, was recently identified as a susceptibility gene for Peutz-Jeghers syndrome (PJS), a disease characterized by the constellation of intestinal hamartomata, oral mucocutaneous hyperpigmentation,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bab934d2589a2b4ebe53c9877652c54d
https://pubmed.ncbi.nlm.nih.gov/10874301
https://pubmed.ncbi.nlm.nih.gov/10874301
Publikováno v:
Cancer research. 60(5)
Epidemiological studies have suggested that the breast cancer susceptibility genes, BRCA1 and BRCA2, may be involved in the development of prostate cancer. Several studies have screened prostate cancer populations for the presence of BRCA1 and BRCA2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::786272680ae9e38d4c9304b959ed458b
https://pubmed.ncbi.nlm.nih.gov/10728701
https://pubmed.ncbi.nlm.nih.gov/10728701
Publikováno v:
American journal of medical genetics. 85(2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::478e00d878a9dedb9766ccc25e7c967f
https://pubmed.ncbi.nlm.nih.gov/10406676
https://pubmed.ncbi.nlm.nih.gov/10406676
Publikováno v:
Cancer research. 59(7)
The application of comparative genomic hybridization to the analysis of genetic abnormalities in breast carcinoma has consistently revealed that chromosome region 17q22-24 is a frequent site of gene amplification in this type of cancer. As part of an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bfc6fd2a3d18231abfbc0016018e64c0
https://pubmed.ncbi.nlm.nih.gov/10197603
https://pubmed.ncbi.nlm.nih.gov/10197603