Attenuated Familial Adenomatous Polyposis
Last Posted: Mar 07, 2019
- Appropriate Management of Attenuated Familial Adenomatous Polyposis: Report of a Case and Review of the Literature.
Sokic-Milutinovic Aleksandra et al. Digestive diseases (Basel, Switzerland) 2019 Mar 1-6
- Management of Individuals at Increased Hereditary Risk
- CLINGEN Actionability Report for Hereditary mixed polyposis syndrome 1- GREM1
ClinGen Actionability Working Group
- CLINGEN Actionability Report for MUTYH-Associated Polyposis - MUTYH
ClinGen Actionability Working Group
- ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.
Syngal Sapna et al. The American journal of gastroenterology 2015 Feb 110(2) 223-62; quiz 263
- Clinical Characteristics of Multiple Colorectal Adenoma Patients Without Germline APC or MYH Mutations.
Tieu Alan H, et al. Journal of clinical gastroenterology 2015 10
- Mitochondrial variants in MT-CO2 and D-loop instability are involved in MUTYH-associated polyposis.
Errichiello Edoardo, et al. Journal of molecular medicine (Berlin, Germany) 2015 7
- ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis).
- Mutational spectrum of the APC and MUTYH genes and genotype-phenotype correlations in Brazilian FAP, AFAP, and MAP patients.
Torrezan Giovana Tardin, et al. Orphanet journal of rare diseases 2013 0 (1) 54
- Clinical and molecular features of attenuated adenomatous polyposis in northern Italy.
de Leon M Ponz, et al. Techniques in coloproctology 2013 2 (1) 79-87
- MUTYH-associated polyposis - variability of the clinical phenotype in patients with biallelic and monoallelic MUTYH mutations and report on novel mutations.
Morak M, et al. Clinical genetics 2010 10 (4) 353-63
- APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas.
Filipe B, et al. Clinical genetics 2009 9 (3) 242-55
- Implication of adenomatous polyposis coli and MUTYH mutations in familial colorectal polyposis.
De Rosa Marina, et al. Diseases of the colon and rectum 2009 2 (2) 268-74
- Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis.
Cattaneo Francesca, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2007 12 (12) 836-41
- Colorectal adenomatous polyposis Associated with MYH mutations: genotype and phenotype characteristics.
Bouguen Guillaume, et al. Diseases of the colon and rectum 2007 10 (10) 1612-7
Selected Rare Diseases
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- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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