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Esophageal Adenocarcinoma Presenting as Pseudo-Achalasia in a Patient with Juvenile Polyposis Syndrome: An Enemy Out of the Blue

CL Chun, S Eisenstat, S Dormady… - Digestive diseases and …, 2011 - Springer
A 38-year-old non-smoking male with a history of juvenile polyposis syndrome (JPS) and adenocarcinoma
of the colon presented for a second opinion for a bleeding rectal mass and difficulty swallowing
both solids and liquids. The patient had been in his usual state of good health until he ...
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Histologic Variations in Juvenile Polyp Phenotype Correlate With Genetic Defect Underlying Juvenile Polyposis

WA van Hattem, D Langeveld… - … American Journal of …, 2011 - journals.lww.com
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Discovery of SMAD4 promoters, transcription factor binding sites and deletions in juvenile polyposis patients

D Calva, FS Dahdaleh, G Woodfield… - Nucleic Acids …, 2011 - Oxford Univ Press
Inactivation of SMAD4 has been linked to several cancers and germline mutations cause juvenile
polyposis (JP). We set out to identify the promoter(s) of SMAD4, evaluate their activity in cell lines
and define possible transcription factor binding sites (TFBS). 5′-rapid amplification of ...
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Juvenile polyposis syndrome, SMAD4 mutations, and hereditary hemorrhagic telangiectasia

F Schwenter, F Ratjen, T Berk… - Journal of Pediatric …, 2011 - journals.lww.com
Juvenile Polyposis Syndrome (JPS) is an autosomal dominant condition characterized by multiple
juvenile polyps in the gastrointestinal tract with a lifetime cancer risk of 39%. A subset of JPS
patients have mutations in the SMAD4 gene. Recently, a combined syndrome of ...
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Juvenile Polyps and Juvenile Polyp Syndromes in Children: A Clinical and Endoscopic Survey

B Hood, S Bigler, P Bishop, H Liu… - Clinical …, 2011 - cpj.sagepub.com
Colonic polyps are a common finding in children, rep- resenting one of the most common causes
of rectal bleeding in this age group.1 Historically, the vast major- ity of childhood polyps are
solitary, located in the distal colon, and are histologically classified as juvenile pol- yps ...
Related articles - All 2 versions

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