نتایج جستجو برای: familial polyposis coli
تعداد نتایج: 208445 فیلتر نتایج به سال:
Background: Familial adenomatous polyposis (FAP) is an autosomal dominant disorder caused by a mutation in the coli (APC) gene. FAP characterized development of multiple polyps (>100) colon. The aim this study was to evaluate prevalence gastroduodenal patients referred Taleghani hospital, teaching referral center Tehran, Iran. Materials and Methods: Front-view side-view endoscopies were perf...
OBJECTIVES To evaluate the use of polymorphic DNA probes linked to the APC gene in the presymptomatic diagnosis of familial adenomatous polyposis. DESIGN Four DNA probes were tested on an unselected population of patients at risk of familial adenomatous polyposis. SUBJECTS The first 47 families notified to the West Midlands familial adenomatous polyposis register. Plus five families sent to...
1. Ataxia Telangiectasia (includes Ataxia Telangiectasia 12 Complementation Groups A, C, D, E, Louis–Barr Syndrome) 2. Basal Cell Nevus Syndrome, Nevoid Basal Cell 18 Carcinoma Syndrome, or Gorlin Syndrome 3. Beckwith–Wiedemann Syndrome 19 (Exomphalos–Macroglossia–Gigantism Syndrome) 4. Birt–Hogg–Dubé Syndrome 20 5. Bloom Syndrome 21 6. Breast/Ovarian Cancer, Hereditary (BRCA1) 22 7. Breast/Ova...
We report familial adenomatous polyposis coli (FAPC) with epidermoid cysts, osteomata, and areas of congenital hypertrophy of the retinal pigment epithelium (CHRPEs) in a male patient and his maternal aunt, both of whom suffered a mild to moderate degree of mental handicap. Both had an interstitial deletion of the long arm of chromosome 5 (del(5)(q22q23.2)). Two other normal family members had ...
abstract desmoid tumors (dts) are benign tumors which are not seen very often, and most of the radiologists and clinicians do not know the characteristics of them very well. correct and early diagnosis of dts is important for decreasing mortality and morbidity. computed tomography enterography (cte) is a new modality for small bowel imaging which combines the improved spatial and temporal resol...
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