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Cáncer hereditario de colon: Aportes del diagnóstico genético molecular
(Sociedad Médica de Santiago, 2010)
Gardner syndrome with unusual maxillofacial manifestation
(2016-07-01)
Gardner syndrome is a rare autosomal-dominant condition characterized by the presence of intestinal polyposis, multiple osteomas, and tumors of the hard and soft tissues. This paper describes a patient of Gardner syndrome ...
Colorectal cancer in familial adenomatous polyposis: Are there clinical predictive factors?
(ELSEVIER DOYMA SL, 2010)
Background: Familial Adenomatous Polyposis (FAP) is a hereditary disorder with multiple colorectal polyps that exhibit an almost inevitable risk of colorectal cancer (CRC) in untreated patients. Goals: To evaluate clinical ...
Cáncer colorrectal hereditario: análisis molecular de los genes APC y MLH1
(Sociedad Médica de Santiago, 2006)
Evaluating Causes of Death in Familial Adenomatous Polyposis
(SPRINGER, 2010)
Background Familial adenomatous polyposis is a genetic syndrome associated with an increased risk of colorectal cancer (CRC) and different extracolonic manifestations Goals The goal of this study is to evaluate the frequency ...
Promoter-specific alterations of APC are a rare cause for mutation-negative familial adenomatous polyposis
(Wiley-liss, Div John Wiley & Sons Inc, 2014-06)
In familial adenomatous polyposis (FAP), 20% of classical and 70% of attenuated/atypical (AFAP) cases remain mutation-negative after routine testing; yet, allelic expression imbalance may suggest an APC alteration. Our aim ...
Incidência e evolução da polipose nasal em crianças e adolescentes com fibrose cística
(2008-12-23)
Nasal polyps are a clinical sign of alert for investigating Cystic Fibrosis (CF). Aims: To study the incidence of nasal polyps in children and adolescents with cystic fibrosis, its possible association with age, gender, ...
APC germline mutations in families with familial adenomatous polyposis
(Spandidos Publ LtdAthensGrécia, 2013)