germline mutations - Robuta Search

https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2022.853171/full Frontiers | Germline Mutations Related to Primary Hyperparathyroidism Identified by Next-Generation... Primary hyperparathyroidism (PHPT) is characterized by overproduction of parathyroid hormone and subsequent hypercalcemia. Approximately 10% of PHPT cases ar... germline mutations primary hyperparathyroidism frontiers related https://pubmed.ncbi.nlm.nih.gov/1683921/ p53 germline mutations in Li-Fraumeni syndrome Germline mutations within a defined region of the p53 gene have recently been found in families with the Li-Fraumeni syndrome (LFS). In the present study this... germline mutations syndrome https://pubmed.ncbi.nlm.nih.gov/24896186/ Novel somatic and germline mutations in intracranial germ cell tumours Intracranial germ cell tumours (IGCTs) are a group of rare heterogeneous brain tumours that are clinically and histologically similar to the more common... germline mutations novel somatic cell tumours https://pubmed.ncbi.nlm.nih.gov/26580448/ Germline Mutations in Predisposition Genes in Pediatric Cancer Germline mutations in cancer-predisposing genes were identified in 8.5% of the children and adolescents with cancer. Family history did not predict the... germline mutations predisposition genes pediatric cancer https://pubmed.ncbi.nlm.nih.gov/9537325/ E-cadherin germline mutations in familial gastric cancer The identification of genes predisposing to familial cancer is an essential step towards understanding the molecular events underlying tumorigenesis and is... germline mutations cadherin familial gastric cancer https://www.wikidata.org/wiki/Q41306100 Monoallelic mutation analysis (MAMA) for identifying germline mutations - Wikidata mutation analysis germline mutations mama identifying wikidata https://collaborate.princeton.edu/en/publications/germline-autonomy-of-maternal-effect-mutations-altering-the-embry/fingerprints/ Germline autonomy of maternal-effect mutations altering the embryonic body pattern of Drosophila -... https://medschool.duke.edu/events/mosaicism-and-inheritance-vascular-malformations-integrating-germline-and-somatic-mutations Mosaicism and Inheritance in Vascular Malformations: Integrating Germline and Somatic Mutations |... In this seminar, I will use one of the inherited diseases that we study, Cerebral Cavernous Malformations, to show how a human genetic study can lead to... vascular malformations inheritance integrating germline somatic https://pubmed.ncbi.nlm.nih.gov/20400964/ Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer... Germline mutations in a number of genes involved in the recombinational repair of DNA double-strand breaks are associated with predisposition to breast and... breast and ovarian cancer https://pubmed.ncbi.nlm.nih.gov/21752896/ SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic... Our results demonstrate that SDHA immunohistochemistry on paraffin-embedded tumors can reveal the presence of SDHA germline mutations and allowed the... immunohistochemistry detects germline gene mutations https://pubmed.ncbi.nlm.nih.gov/30713775/ Germline Mutations in BRCA1 and BRCA2 in Breast Cancer Patients with High Genetic Risk in Turkish... It is recommended to check for BRCA1/2 mutations in all high-risk breast carcinoma patients in the Turkish population. https://eprints.ncl.ac.uk/227523 Tracking tumour kinetics in patients with germline CYLD mutations - ePrints - Newcastle University in patients https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2019.00550/full Frontiers | Identification of Germline Mismatch Repair Gene Mutations in Lung Cancer Patients With... Background: Identification of the pathogenic germline mutation in DNA mismatch repair (MMR) genes is one of the diagnostic criteria of Lynch syndrome. In ret... https://experts.umn.edu/en/projects/the-role-of-germline-cftr-mutations-in-colorectal-cancer/ The role of germline CFTR mutations in colorectal cancer - Experts@Minnesota the role colorectal cancer germline cftr https://edrn.cancer.gov/data-and-resources/publications/18306035-1513-germline-rap80-mutations-and-susceptibility-to-breast-cancer/ Germline RAP80 mutations and susceptibility to breast cancer. This is a publication by a member of the Early Detection Research Network. germline mutations susceptibility breast cancer https://researchprofiles.ku.dk/da/publications/contribution-of-germline-mutations-in-the-irad51bi-irad51ci-and-i/ Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer... https://research.vu.nl/en/publications/the-impact-of-brca1-and-brca2-germline-mutations-on-breast-cancer/ The impact of BRCA1 and BRCA2 germline mutations on breast cancer outcome in young women - Vrije... https://research-portal.uu.nl/en/publications/germline-mutations-and-uncertain-variants-of-the-brca1-and-brca2-/ Germline mutations and uncertain variants of the BRCA1 and BRCA2 genes in a hospital-based series... https://pubmed.ncbi.nlm.nih.gov/25529843/ Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in... In a number of families with colorectal adenomatous polyposis or suspected Lynch syndrome/HNPCC, no germline alteration in the APC, MUTYH, or mismatch repair... https://cagt.pratt.duke.edu/about/event/729 Mosaicism and Inheritance in Vascular Malformations: Integrating Germline and Somatic Mutations |... Tuesday, April 21, 2026 - 12:30PM vascular malformations inheritance integrating germline somatic https://edrn.cancer.gov/data-and-resources/publications/21874000-2909-germline-bap1-mutations-predispose-to-malignant-mesothelioma/ Germline BAP1 mutations predispose to malignant mesothelioma. This is a publication by a member of the Early Detection Research Network. germline mutations malignant mesothelioma