Results 91 to 100 of about 1,506,824 (383)
Chinese Journal of Contemporary Neurology and Neurosurgery, 2021 Objective To summarize the clinical, muscle pathology and molecular biological features of late⁃onset glycogen storage disease type Ⅱ (GSDⅡ). Methods and Results Five patients with late⁃onset GSD Ⅱ diagnosed and treated in The Fifth Affiliated Hospital ...
WU Shi⁃tao +4 more
doaj +1 more source
Molecular Oncology, EarlyView.This study develops a semi‐supervised classifier integrating multi‐genomic data (1404 training/5893 validation samples) to improve homologous recombination deficiency (HRD) detection in breast cancer. Our method demonstrates prognostic value and predicts chemotherapy/PARP inhibitor sensitivity in HRD+ tumours.
Rong Zhu +12 more
wiley +1 more source
Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene [PDF]
, 2006 Background: Golabi, Ito, and Hall reported a family with X linked mental retardation (XLMR), microcephaly, postnatal growth deficiency, and other anomalies, including atrial septal defect, in 1984.Methods: This family was restudied as part of our ongoing
Abidi, F. E. +6 more
core +2 more sources
A novel MKRN3 missense mutation causing familial precocious puberty.
Human Reproduction, 2014 Central precocious puberty may be familial in about a quarter of the idiopathic cases. However, little is known about the genetic causes responsible for the disorder.
L. D. Vries +8 more
semanticscholar +1 more source
A rare missense PAX6 mutation causes atypical aniridia in a three-generation Chinese family [PDF]
International Journal of OphthalmologyAIM: To investigate the molecular diagnosis of a three-generation Chinese family affected with aniridia, and further to identify clinically a PAX6 missense mutation in members with atypical aniridia.
Zhi-Bo Lin +6 more
doaj +1 more source
Molecular Oncology, EarlyView.The COMBAT classification system, developed through multi‐omics integration, stratifies adult patients with B‐cell acute lymphoblastic leukemia(B‐ALL) into three molecular subtypes with distinct surface antigen patterns, immune landscape, methylation patterns, biological pathways and prognosis.
Yang Song +11 more
wiley +1 more source
Sex hormone binding globulin deficiency due to a homozygous missense mutation.
Journal of Clinical Endocrinology and Metabolism, 2014 CONTEXT SHBG is known as the major sex steroid binding protein in plasma, and it regulates the bioavailability of both T and estradiol levels required for effects on target tissues.
Michel J. Vos +4 more
semanticscholar +1 more source
Variable phenotypes are associated with PMP22 missense mutations
Neuromuscular Disorders, 2011 Charcot-Marie-Tooth disease (CMT) is the commonest hereditary neuropathy encompassing a large group of clinically and genetically heterogeneous disorders. The commonest form of CMT, CMT1A, is usually caused by a 1.4 megabase duplication of chromosome 17 containing the PMP22 gene. Mutations of PMP22 are a less common cause of CMT.
Matilde Laura +11 more
openaire +6 more sources
Novel Heterozygous Sequence Variant in the HOXD13 Gene Underlie Non-syndromic Syndactyly
Journal of Biochemical and Clinical Genetics, 2023 Background: The term "Syndactyly" referred to an inherited deformity of the hand or foot marked by persistence of the webbing between adjacent digits that are more or less completely attached and mostly inherited in an autosomal dominant manner.
Safdar Abbas +5 more
doaj +1 more source
Molecular Oncology, EarlyView.In thyroid cancer patients, high‐dose (≥7.4 GBq) radioactive iodine therapy (RAIT) was associated with a higher prevalence of clonal hematopoiesis (variant allele frequency >2%) in individuals aged ≥50 years (OR = 2.44). In silico analyses showed that truncating PPM1D mutations conferred a selective advantage under these conditions.
Jaeryuk Kim +11 more
wiley +1 more source