Results 251 to 260 of about 175,064 (329)

RNA Analysis Uncovers Pathogenic PARN Variant in Dyskeratosis Congenita

open access: yesClinical Genetics, EarlyView.
Using WGS and RNA analysis, we identified a branch point‐disrupting variant in the PARN gene and elucidated its pathogenic molecular mechanism in a child with atypical dyskeratosis congenita presentation. ABSTRACT Dyskeratosis congenita (DC) is a rare genetic disorder caused by impaired telomere maintenance, leading to diverse clinical manifestations ...
Daria Akimova   +3 more
wiley   +1 more source

Choice of colon capsule or colonoscopy versus default colonoscopy in FIT positive patients in the Danish screening programme: a parallel group randomised controlled trial. [PDF]

open access: yesGut
Baatrup G   +13 more
europepmc   +1 more source

Blurring the Lines: Co‐Occurrence of MSH6 Variant and MLH1 Constitutional Epimutation in a Young Colorectal Cancer Patient

open access: yesClinical Genetics, EarlyView.
We report a unique case of early‐onset colorectal cancer with both a germline MSH6 variant and constitutional mosaic MLH1 epimutation, revealing a possible digenic mechanism underlying Lynch syndrome. This case highlights the diagnostic complexity of mismatch repair deficiency and the value of integrative tumor–germline molecular profiling.
Aasem Abu Shtaya   +7 more
wiley   +1 more source

Benefits and harms of colonoscopy surveillance following colonoscopic polypectomy: report from the National Polyp Study

open access: bronze, 2000
Felice Schnoll‐Sussman   +4 more
openalex   +1 more source

Limited utility of faecal immunochemical testing in a colorectal cancer screening programme for adults with cystic fibrosis: insights from a prospective UK study. [PDF]

open access: yesBMJ Open Gastroenterol
Azam A   +8 more
europepmc   +1 more source

A Multicenter Observational Study for the Establishment of Novel Severity Criteria Including Endoscopic Evaluation for Intestinal Behçet's Disease

open access: yesDigestive Endoscopy, EarlyView.
The establishment of novel severity criteria for intestinal Behçet's disease. ABSTRACT Objective This study aimed to establish a novel severity classification for intestinal Behçet's disease (BD) (SCIBD) and validate its criteria across multiple institutions.
Toshiro Fukui   +20 more
wiley   +1 more source

Artificial Intelligence in Digestive Endoscopy Training—The Past, Present, and Future

open access: yesDigestive Endoscopy, EarlyView.
AI may enhance endoscopy training through improved detection, guidance and evaluation, but demands careful implementation, validation and ethical governance to maximize benefits. ABSTRACT Background and Objective Artificial intelligence (AI) is reshaping gastrointestinal endoscopy, yet its role in training remains unexplored.
Jacky C. L. Ho   +4 more
wiley   +1 more source

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