Results 281 to 290 of about 378,407 (392)

Intestinal Atresia in PPP1R12A‐Related Urogenital and Brain Malformation Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PPP1R12A‐related urogenital and brain malformation syndrome (UBMS) is a newly described disorder characterized by congenital anomalies primarily involving the urogenital system and the brain. We describe a preterm female neonate with multiple congenital anomalies, including type IIIb jejunal atresia, incomplete intestinal rotation, imperforate
Adriana Gomes   +4 more
wiley   +1 more source

The Role of SLC39A8.p.(Ala391Thr) in Schizophrenia Symptom Severity and Cognitive Ability: Cross‐Sectional Studies of Schizophrenia and the General UK Population

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The missense SNP NC_000004.12:g.102267552C>T (also known as SLC39A8.p.(Ala391Thr), rs13107325) in SLC39A8 encodes a zinc transporter. This SNP has been linked to schizophrenia and is the likely causal variant for one of the genome‐wide association loci associated with the disorder. Using regression analyses, we tested whether the schizophrenia‐
Sophie E. Smart   +12 more
wiley   +1 more source

RECONSTRUCTION OF ESOPHAGUS

open access: yesJournal of Thoracic Surgery, 1950
Ross Robertson, T.R. Sarjeant
openaire   +3 more sources

Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote   +9 more
wiley   +1 more source

Esophageal Management of an Aortoesophageal Fistula. [PDF]

open access: yesCureus
Gordon RS   +3 more
europepmc   +1 more source

Yunweiling alleviates functional constipation: integrating network pharmacology and experimental study

open access: yesAnimal Models and Experimental Medicine, EarlyView.
In a study combining network pharmacological analysis and experimental verification, yunweiling has been shown improve functional constipation by inhibiting the PI3K‐Akt‐p53 signaling pathway and reducing the expression of TP53. Abstract Background This study investigated the impacts and mechanisms of yunweiling in the management of Functional ...
Peng Zhang   +6 more
wiley   +1 more source

Contamination-controlled upper gastrointestinal microbiota profiling reveals salivary-duodenal community types linked to opportunistic pathogen carriage and inflammation. [PDF]

open access: yesGut Microbes
Schmidt NS   +9 more
europepmc   +1 more source

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