Journal ArticleDOI
Hypertrophy of the Retinal Pigment Epithelium Associated with Gardner's Syndrome
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TLDR
Congenital hypertrophy of the retinal pigment epithelium was seen in three affected members of a kindred with Gardner's syndrome, and the following atypical features were present: multiple lesions per eye; bilateral occurrence; familial transmission; and association with systemic disease.About:
This article is published in American Journal of Ophthalmology.The article was published on 1980-11-01. It has received 187 citations till now. The article focuses on the topics: Gardner's syndrome & Retinal pigment epithelium.read more
Citations
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Journal ArticleDOI
Hereditary Colorectal Cancer
TL;DR: This article provides an in-depth review of the two most common forms of familial colorectal cancer, and the identification of those at risk and the use of appropriate colonoscopic screening.
Journal ArticleDOI
The Molecular Basis of Turcot's Syndrome
Stanley R. Hamilton,Bo Liu,Ramon Parsons,Nickolas Papadopoulos,Jin Jen,Steven M. Powell,Anne J. Krush,Theresa Berk,Zane Cohen,Bernard Têtu,Peter C. Burger,Patricia A. Wood,Fowzia Taqi,Susan V. Booker,Gloria M. Petersen,G. Johan A. Offerhaus,Anne C. Tersmette,Francis M. Giardiello,Bert Vogelstein,Kenneth W. Kinzler +19 more
TL;DR: The association between brain tumors and multiple colorectal adenomas can result from two distinct types of germ-line defects: mutation of the APC gene or mutation of a mismatch-repair gene.
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The ABC of APC
TL;DR: Understanding to date of how mutations in the APC gene translate into changes at the protein level, which in turn contribute to the role of APC in tumorigenesis are dealt with.
Journal ArticleDOI
Mortality in patients with familial adenomatous polyposis
TL;DR: The authors identified 132 patients who died with a documented diagnosis of familial adenomatous polyposis (FAP) and found the major causes of death in 36 patients who underwent prophylactic colectomy were desmoid tumor and periampullary malignancy.
Journal ArticleDOI
Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients.
Sylviane Olschwang,Anne Tiret,Pierre Laurent-Puig,Martine Muleris,Rolland Parc,Gilles Thomas +5 more
TL;DR: Ocular examination revealed that patients expressing CHRPE tend to cluster within specific families, and the range of phenotypic expression observed among affected patients may result in part from different allelic manifestations of APC mutations.
References
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Journal Article
Multiple cutaneous and subcutaneous lesions occurring simultaneously with hereditary polyposis and osteomatosis.
Journal ArticleDOI
Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits; a syndrome of diagnostic significance.
Journal ArticleDOI
Malignant tumors of the central nervous system associated with familial polyposis of the colon: report of two cases.
TL;DR: Turcot syndrome is the association between familial adenomatous polyposis and brain tumors like medulloblastoma, malignant glioma, and hence carries the first author's name.
Related Papers (5)
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