Results 271 to 280 of about 119,383 (327)
FISH of Alu-PCR amplified YAC clones and applications in tumor cytogenetics [PDF]
, 1994 Choo, K. H. A. +3 more
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Bladder exstrophy and epispadias complex (BEEC) is one of the most severe congenital malformations of the urogenital tract, significantly impacting continence, sexual function, and renal function. To date, the only recurrent genetic aberration identified is the 22q.11.2 microduplication, but several candidate regions and genes including ...
Agneta Nordenskjöld +9 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT KBG syndrome is a rare autosomal dominant neurodevelopmental disorder caused by ANKRD11 haploinsufficiency and is characterized by short stature, distinctive facial features, intellectual disability or developmental delay, congenital anomalies and skeletal anomalies.
Marit van der Leij +5 more
wiley +1 more source
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra +5 more
wiley +1 more source
Molecular characterization of the A52 murine hepatocellular carcinoma cell line
Animal Models and Experimental Medicine, EarlyView.Hepatocellular carcinoma (HCC) is a poor outcome cancer with limited therapeutic choices. To advance therapeutic development we genetically characterized the A52 murine HCC cell line. We noted genetic changes that match a subset of human HCC and this offers the opportunity to test novel targeted therapies in syngeneic mice.
Rhys Gillman +5 more
wiley +1 more source
Use of Chromosome Aberrations for Predicting Genetic Hazards to Man
, 1974 J.G. Brewen, R. Julian Preston
openalex +1 more source
Diverse Genetic Etiologies of Unilateral Polymicrogyria
Annals of Neurology, EarlyView.Objective Polymicrogyria (PMG) is one of the most common human malformations of cortical development and is often classified by its radiographic pattern of distribution. Unilateral polymicrogyria (uPMG) is a subtype of PMG affecting a portion or all of one cerebral hemisphere.
Abbe Lai +21 more
wiley +1 more source
Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort
Annals of Neurology, EarlyView.Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov +42 more
wiley +1 more source
Annals of Neurology, EarlyView.Objective Targeted therapies for facioscapulohumeral muscular dystrophy (FSHD) are progressing through clinical trials. Electrical impedance myography (EIM) provides a noninvasive biomarker of muscle composition that may be valuable especially in early phase trials. This study evaluated EIM data from a multicenter FSHD cohort over 24 months.
Karlien Mul +15 more
wiley +1 more source
Advanced NanoBiomed Research, EarlyView.Selenium nanoparticles (SeNPs) are emerging as multifunctional platforms for wound healing, integrating antimicrobial, anti‐inflammatory, and proregenerative activities. This review summarises key mechanisms and recent advances in SeNP‐enabled composite dressings, immunomodulatory nanocomposites, microenvironment‐responsive hydrogels, photothermal and ...
Yangxia Chen +10 more
wiley +1 more source