Results 171 to 180 of about 319,715 (326)
Clinical Genetics, EarlyView.We hereby report the first prenatal diagnosis of MSL2‐related pathology, namely ventriculomegaly. Favorable 11‐month follow‐up illustrates the challenges in predicting postnatal outcomes for genetic anomalies linked to recently characterized phenotypes with limited documented cases.
Omar Zgheib +12 more
wiley +1 more source
Clinical Genetics, EarlyView.CRISPR activation of NEB in fibroblasts, followed by RNA‐sequencing, documents spliceogenic effects of a NEB intronic variant. The assay enabled variant reclassification as likely pathogenic, providing molecular diagnosis in fetuses with Arthrogryposis multiplex congenita 6.
Doriana Misceo +7 more
wiley +1 more source
A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa
BMC Medical GenomicsDystrophic epidermolysis bullosa is a rare subtype of inherited epidermolysis bullosa, caused by variants in the collagen type VII alpha 1 chain (COL7A1) gene (MIM120120).
Saira Sattar +6 more
doaj +1 more source
Clinical Genetics, EarlyView.Chromatinopathies (CP) are a growing group of rare genetic disorders characterized by cognitive deficits and growth abnormalities. This is the largest collection of CP to date, contributing to a deeper understanding of the landscape and diagnosis of these rare diseases, strongly improved by the use of large‐scale sequencing technologies.
Giulia Bruna Marchetti +16 more
wiley +1 more source
Clinical Genetics, EarlyView.Noninvasive prenatal diagnosis for monogenic diseases (NIPD‐M) to detect inherited mutations is performed in parallel with fetal fraction signatures, to detect various anomalies that may compromise diagnosis. An extra regression analysis may be necessary to resolve mosaic situations. ABSTRACT Noninvasive prenatal diagnosis relies on the analysis of the
Jean‐Louis Blouin +2 more
wiley +1 more source
Genetic Bases of Estrogen-Induced Pituitary Growth in an Intercross between the ACI and Copenhagen Rat Strains: Dominant Mendelian Inheritance of the ACI Phenotype [PDF]
, 1999 Thomas J. Spady
openalex +1 more source
Clinical Genetics, EarlyView.RDH11 is a minor isoenzyme that catalyses the oxidation of 11‐cis‐retinol to 11‐cis‐retinal in the retinal pigment epithelium, alongside RDH5 and RDH10. Biallelic null variants in RDH11 lead to upregulation of RDH5 and RDH10 (transcriptional adaptation), maintaining 11‐cis‐retinal bioavailability, but still causing Retinal Pigment Epitheliopathy due to
Kirk A. J. Stephenson +11 more
wiley +1 more source
Clinical and genetic landscape of epilepsies with absence seizures and single‐gene etiology
Epilepsia, EarlyView.Abstract Objective To characterize the clinical, electroencephalographic, and genetic features of epilepsies featuring absence seizures within monogenic etiology, highlighting the diagnostic, treatment and prognostic implications. Methods We conducted a retrospective, multicenter study including patients with monogenic epilepsies and ...
Simona Balestrini +50 more
wiley +1 more source