Results 61 to 70 of about 4,368 (158)
Cell Biochemistry and Function, Volume 44, Issue 10, October 2026.ABSTRACT PDE4DIP/Myomegalin was originally identified as a Golgi‐ and centrosome‐associated protein that interacts with phosphodiesterase 4D, but subsequent work has placed it within a broader network of organelle‐associated signaling and cytoskeletal regulation.
Cong Wang +3 more
wiley +1 more source
Ideogram for chromosome 21 from a patient with a maternal microduplication.
, 2017 Ideogram for chromosome 21 from a patient with a maternal microduplication.
Corey Braastad (3804463) +18 more
core +1 more source
A Heterozygous Variant in the GABBR2 Gene in a Girl With Clinical Classic Rett Syndrome
Molecular Genetics &Genomic Medicine, Volume 14, Issue 10, October 2026.A heterozygous de novo GABBR2 variant was identified in a girl with clinical classical Rett syndrome. Comparison with previously reported cases suggests that GABBR2 variants should be considered in the genetic evaluation of individuals with MECP2‐negative Rett syndrome.
Jenny Klintenstedt +3 more
wiley +1 more source
22q11.2 microduplication syndrome with congenital aural atresia : a family report
, 2012 : 22q11.2 microduplication syndrome is characterized by a large phenotypic variability including facial dysmorphism, developmental delay, and hearing loss.
Boudewyns, An +4 more
core +1 more source
IMPROVE 2025: The 3rd International Meeting on Pathway‐Related Obesity: Vision & Evidence
Clinical Obesity, Volume 16, Issue 5, October 2026.ABSTRACT An international cohort of 161 clinicians and researchers from 19 countries attended the 3rd International Meeting on Pathway‐Related Obesity: Vision & Evidence (IMPROVE) in Prague, Czech Republic, on 2–4 July 2025. The aims of the meeting were to advance understanding of hyperphagia and obesity caused by defects in the melanocortin‐4 receptor
Jesús Argente +17 more
wiley +1 more source
Distal 22q11.2 Microduplication
, 2017 Distal chromosome 22q11.2 microduplications are associated with a wide range of phenotypes and unclear pathogenicity. The authors report on a 3-year-old girl with global developmental delay harboring a de novo 1.24 Mb distal chromosome 22q11.2 ...
Myriam Srour +2 more
core +1 more source
35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations
American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2010-2018, September 2026.ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li +25 more
wiley +1 more source
Animal models for human contiguous gene syndromes and other genomic disorders
Genetics and Molecular Biology, 2004 Genomic disorders refer to a group of syndromes caused by DNA rearrangements, such as deletions and duplications, which result in an alteration of normal gene dosage.
Katherina Walz +2 more
doaj +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2067-2079, September 2026.ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli +18 more
wiley +1 more source
New microdeletion and microduplication syndromes: a comprehensive review
Genetics and Molecular Biology, 2014 Several new microdeletion and microduplication syndromes are emerging as disorders that have been proven to cause multisystem pathologies frequently associated with intellectual disability (ID), multiple congenital anomalies (MCA), autistic spectrum ...
Julián Nevado +15 more
doaj +1 more source