Results 301 to 310 of about 279,538 (412)

A case of common bile duct adenoma diagnosed by exfoliative cytology of bile juice.

open access: diamond, 1994
Eio Atari   +6 more
openalex   +2 more sources

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

Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies

open access: yesClinical Genetics, EarlyView.
Missense variants in TMEM17 disrupt its localization and function at the ciliary transition zone, leading to a wide range of ciliopathy phenotypes, from OFD6 and Joubert syndromes to Meckel syndrome. ABSTRACT Ciliopathies are rare genetic disorders characterized by significant genetic and phenotypic variability.
Lucile Boutaud   +19 more
wiley   +1 more source

LPC18:0 Secreted by Exogenous Neural Stem Cells Potentiates Neurogenesis and Functional Recovery via GPR55‐Mediated Signalling in Spinal Cord Injury

open access: yesCell Proliferation, EarlyView.
LPC18:0 secreted by exogenous neural stem cells potentiates neurogenesis via the GPR55/AKT/GSK3β signalling axis, which ultimately promotes spinal cord injury recovery. ABSTRACT Spinal cord injury (SCI) is a devastating condition with limited therapeutic options. Although neural stem cell (NSC) transplantation shows regenerative potential, its efficacy
Dong Chen   +11 more
wiley   +1 more source

Endoscopic Ultrasound‐Directed Transgastric ERCP in Patients With Roux‐En‐Y Gastric Bypass: A Multicenter Prospective Cohort Study (EDGE‐Pilot)

open access: yesDigestive Endoscopy, EarlyView.
ABSTRACT Objectives Endoscopic retrograde cholangiopancreatography (ERCP) is frequently indicated in patients who underwent Roux‐en‐Y gastric bypass (RYGB) surgery. Endoscopic ultrasound‐directed ERCP (EDGE) is a technique that is used to create a gastro‐gastrostomy by placing a lumen‐apposing metal stent (LAMS) between the gastric pouch and the ...
A. G. Overdevest   +10 more
wiley   +1 more source

Robotic Common Bile Duct Exploration for Choledocholithiasis. [PDF]

open access: yesJSLS
Zhang C   +8 more
europepmc   +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

Large choledochal cyst of the common bile duct in a 2-month-old girl: a case report

open access: gold
Mehdi Forooghi   +5 more
openalex   +1 more source

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