Results 141 to 150 of about 15,020 (275)

Clinical Insights From a Case of Sifrim‐Hitz‐Weiss Syndrome With a CHD4 Variant: Expanding the Phenotypic Spectrum and Its Response to Growth Hormone Therapy

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1403-1410, June 2026.
ABSTRACT To enhance clinicians' understanding of Sifrim‐Hitz‐Weiss syndrome (SIHIWES), this study investigated the clinical phenotypes, genetic characteristics, and response to growth hormone therapy in a patient. A case of a patient with global developmental delay and distinctive facial features is presented.
Jianmei Zhang, Shuangzhong Chen, Guanping Dong, Suhong Yang, Ping Wang, Qiong Zhou, Pingping Wang   +6 more
wiley   +1 more source

Extension de la plate-forme DSM-PM2 pour le support de protocoles de cohérence relâchée multithreads

, 2001
International audienceDans leur présentation traditionnelle, les bibliothèques de gestion de mémoire distribuée virtuel- lement partagée (MVP, en anglais DSM) [8, 11, 12, 4] permettent à des processus de partager un espace d'adressage commun selon un ...
Bernardi, Vincent, Antoniu, Gabriel, Bougé, Luc   +2 more
core   +1 more source

WWOX Mutation as a Rare Cause of Neonatal‐Infantile Parkinsonism Mimicking a Neurotransmitter Disorder: A Case Report

Journal of Paediatrics and Child Health, EarlyView.
Ozge Serce Pehlevan, Gizem Gider Yaman, Anıl Gok, Leman Tekin Orgun   +3 more
wiley   +1 more source

From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1452-1457, June 2026.
ABSTRACT FOXA2 (hepatocyte nuclear factor‐3β, HNF‐3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 ...
Christopher Connolly, Hemant A. Parmar, Lauren Hipp, Tomoyasu Higashimoto   +3 more
wiley   +1 more source

Effect of rifampicin on bacteriophage PM2 biogenesis [PDF]

FEBS Letters, 1975
openaire   +2 more sources

Genetic Variants and Clinical Characteristics of Young‐Onset Parkinson's Disease in the Hakka Population of Western Fujian

Brain and Behavior, Volume 16, Issue 6, June 2026.
In 33 Hakka young‐onset Parkinson's disease (YOPD) patients from western Fujian, whole exome sequencing (WES) plus spinocerebellar ataxia (SCA) panel testing and multiplex ligation‐dependent probe amplification (MLPA) defined the genetic spectrum. Pathological ATXN2 repeat expansion was detected in two cases.
Li‐Ying Pan, Fang Guo, Chong Zheng, Xiao‐Hong Hu, Yan‐Gui Chen, Rong‐Rong Lin   +5 more
wiley   +1 more source

Prenatal Diagnosis of Short Rib‐Polydactyly Syndrome (SRPS), DYNC2I1‐Related: Identification of a Novel Homozygous Missense Variant by Clinical Exome Sequencing

Clinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Short rib‐polydactyly syndrome (SRPS), with or without polydactyly, encompasses a range of autosomal recessive skeletal dysplasias characterized by shortened limbs, narrow thorax, and visceral abnormalities. Accurate genetic testing is crucial for the diagnosis and treatment of different clinical subtypes. This study investigates gene variants
Shiyao Xian, Qi Zhao, Yanfang Li, Lihua Li, Zhongwei Li, Miaolian Zhang, Suihua Feng, Qiang Zhao   +7 more
wiley   +1 more source

Variant Curation of the Largest Compendium of <i>FOXL2</i> Coding and Noncoding Sequence and Structural Variants in BPES. [PDF]

Hum Mutat
Matton C, Van De Velde J, De Bruyne M, Van De Sompele S, Hooghe S, Syryn H, Bauwens M, D Haene E, Dheedene A, Cools M, Komatsuzaki S, Preizner-Rzucidło E, Ross A, Armstrong C, Watkins W, Shelling A, Vincent AL, Cassiman C, Vermeer S, Bunyan DJ, Verdin H, De Baere E.   +21 more
europepmc   +1 more source

Clinical Report and Genetic Analysis of a Patient With Congenital Hyperinsulinism Hyperammonemia Caused by a Novel Missense Mutation in the Structural Domain of the Isoform of the GLUD1 Gene

Clinical Case Reports, Volume 14, Issue 6, June 2026.
This patient was admitted to the hospital 43 h after birth with convulsions and hypoglycemia, presenting as recurrent refractory hypoglycemia that was difficult to control with conventional medication. Whole exome sequencing detected the GLUD1 (NM_005271.3:c.1495G>T, p.Gly499Cys) variant, which was a de novo variant in the patient and was not detected ...
Tingyu Li, Tianyi Liu, Lujuan Li, Yang Liu, Qi Zhang, Xian Cheng, Zhong Li   +6 more
wiley   +1 more source

Assessing Allele Frequency Information: A Study of Variant Curation Expert Panel Guidelines. [PDF]

Hum Mutat
Wang X, Zhang T, Qin Y, Zou Y, Luo H, Li H, Song J.   +6 more
europepmc   +1 more source