Zobrazeno 1 - 3
of 3
pro vyhledávání: '"A T, Stormorken"'
Autor:
Laura Roht, Hanne K. Hyldebrandt, Astrid T. Stormorken, Hilde Nordgarden, Rolf H. Sijmons, Dennis K. Bos, Douglas Riegert‐Johnson, Sarah Mantia‐Macklin, Pilvi Ilves, Kai Muru, Monica H. Wojcik, Tiina Kahre, Katrin Õunap
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 6, Pp n/a-n/a (2023)
Abstract Background Pathogenic variants in AXIN2 have been associated with tooth agenesis, colon polyps, and colon cancer. Given the rare nature of this phenotype, we set out to collect additional genotypic and phenotypic information. Methods Data we
Externí odkaz:
https://doaj.org/article/5aff02c19dec4b41b527299b5660ab84
Autor:
Astrid T, Stormorken, Wolfram, Müller, Annika, Lindblom, Ketil, Heimdal, Steinar, Aase, Inger Marie Bowitz, Lothe, Tove, Norèn, Juul T, Wijnen, Gabriela, Möslein, Pål, Møller
Publikováno v:
Familial cancer. 2(1)
Hereditary nonpolyposis colorectal cancer (HNPCC) may be caused by germline truncating mutations in DNA mismatch repair (MMR) genes. Whether or not missense or inframe mutations are disease-associated has become a practical clinical problem, because
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::03af729a7033bb98b20a2631c60f02fa
https://pubmed.ncbi.nlm.nih.gov/14574162
https://pubmed.ncbi.nlm.nih.gov/14574162
Autor:
A T, Stormorken, W, Müller, B, Lemkemeyer, J, Apold, J T, Wijnen, R, Fodde, G, Möslein, P, Møller
Publikováno v:
Familial cancer. 1(3-4)
Hereditary non-polyposis colorectal cancer (HNPCC) may be caused by mutations in the mismatch repair (MMR) genes MLH1, MSH2 or MSH6. Family history (Amsterdam criteria) has traditionally been used to select patients for mutation testing. It has been
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4e81c1dae26df9d09358a4151c1936c6
https://pubmed.ncbi.nlm.nih.gov/14574174
https://pubmed.ncbi.nlm.nih.gov/14574174