Results 91 to 100 of about 5,408 (199)
21‐Hydroxylase Deficient Congenital Adrenal Hyperplasia Due to Maternal Uniparental Isodisomy
Case Reports in Endocrinology, Volume 2026, Issue 1, 2026.Congenital adrenal hyperplasia (CAH) due to 21‐hydroxylase deficiency (21‐OHD CAH) is an autosomal recessive genetic condition that results from pathogenic variants in the CYP21A2 gene. Noncarrier parents are found in a small percentage of cases, typically due to de novo variants. However, uniparental disomy (UPD) should also be considered.
Michelle L. Kluge +9 more
wiley +1 more source
Molecular Genetics & Genomic Medicine, 2020 Background Deletion–insertion (delins) variants in the retina‐specific ATP‐binding cassette transporter gene, subfamily A, member 4 (ABCA4) accounts for
Di Huang +15 more
doaj +1 more source
Genetics Research , Volume 2026, Issue 1, 2026.Nonsyndromic orofacial clefts (NSOC) are common congenital craniofacial developmental defects. Current evidence suggests that genetic factors, environmental exposures, and their interactions jointly contribute to the development of the disease. Owing to the high heritability of NSOC, identifying susceptibility genes and loci is a central focus of ...
Haolang Zhao +4 more
wiley +1 more source
TRACE: A Framework for Integrating Transcript Relevance Into ACMG/AMP Variant Interpretation
Human Mutation, Volume 2026, Issue 1, 2026.Background Accurate clinical variant interpretation depends on the transcript used for annotation and consequence assessment. Transcript‐aware reasoning is also incorporated into existing ClinGen guidance for loss‐of‐function, splicing, functional and computational evidence and into gene‐ and disease‐specific specification.
Himanshu Goel, Miklos Sahin -Toth
wiley +1 more source
, 2023 Additional file 1: Figure S1. Proband’s baseline full field electroretinography (ffERG) results (ISCEV protocol; MetroVision, Perenchies, France). A Moderately subnormal scotopic rod (dark adapted) responses for both left (OS, oculus sinister) and right ...
Robert S. Molday (232692) +8 more
core +1 more source
Assessing Allele Frequency Information: A Study of Variant Curation Expert Panel Guidelines
Human Mutation, Volume 2026, Issue 1, 2026.Purpose The 2015 guidelines recommend using a large, diverse, and race‐matched reference database. However, defining expectations in this context is subjective due to factors like genetic diversity and penetrance. ClinGen forms VCEPs to provide gene‐specific interpretations of ACMG/AMP guidelines, including population information.
Xiaoyan Wang +7 more
wiley +1 more source
Human Mutation, Volume 2026, Issue 1, 2026.Congenital stationary night blindness (CSNB) is a rare and typically nonprogressive group of genetically heterogeneous disorders resulting in impaired night vision and high myopia with varying levels of visual impairment. Despite being a rare disease with a prevalence of 1:294,000, variants in 22 genes have been associated with specific CSNB phenotypes.
Jennifer Ling +5 more
wiley +1 more source
The Development of a Platform for Expression and Purification of the Mammalian Transmembrane Transporter ABCA4 [PDF]
, 2015 Purpose- ABCA4 is an ATP Binding Cassette (ABC) protein localized at cone and rod photoreceptor outer segments of the retina. Though mutations in ABCA4 have been found to cause a broad spectrum of disorders, ABCA4\u27s high molecular weight (~210 kDa ...
Ortiz, Amaryllis
core +1 more source
, 2019 (A-C) Fluorescence micrographs showing ABCA4 expression (red), FITC-conjugated peanut agglutinin (PNA, green), and DAPI nuclear staining (blue) in wild-type (ABCA4+/+), heterozygous (ABCA4+/-), and affected (ABCA4-/-) retinas.
Agnese Viluma (462030) +13 more
core +1 more source