Results 131 to 140 of about 2,151,922 (308)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright +10 more
wiley +1 more source
, 1967 Sex Chromosomes focuses on the study of sex chromosomes, including human chromosomal abnormalities, behavior and characteristics of chromosomes, and cell division.
Mittwoch, Ursula
core
Spinal Involvement in Charge Syndrome: Implications for Management
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes +5 more
wiley +1 more source
Sex-dependent selection differentially shapes genetic variation on and off the guppy Y chromosome
, 2011 Because selection is often sex-dependent, alleles can have positive effects on fitness in one sex and negative effects in the other, resulting in intralocus sexual conflict.
R Brooks (9630122) +3 more
core
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Beckwith–Wiedemann spectrum (BWSp) is an overgrowth disorder characterized by its main clinical features macrosomia, macroglossia, and abdominal wall defects. BWSp is caused by (epi)genetic chromosome 11p15 alterations with approximately 20%–27% of patients exhibiting mosaic paternal uniparental disomy of chromosome 11p15 (pUPD11p15).
Saskia M. Maas +9 more
wiley +1 more source
Assay patterns for common sex chromosome abnormalities.
, 2014 Assay patterns for common sex chromosome abnormalities.
Ju Long (534998) +11 more
core +1 more source
Systematic Review of Females With Intellectual Disability and MECP2 Duplication
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT MECP2 Duplication Syndrome (MDS) is a rare, X‐linked neurodevelopmental disorder typically affecting males. Females with MDS have been reported and are compiled here. We conducted a systematic review (PROSPERO CRD420250652426) of PubMed, EMBASE, and Google Scholar extracting individual participant data.
Paul Malik +10 more
wiley +1 more source
Angewandte Chemie, EarlyView.ROXendin668 is a peptidic GLP‐1 receptor agonist that generates toxic singlet oxygen upon irradiation with far‐red light. Pancreatic beta cells can be photo‐ablated in a spatiotemporally controlled manner. This approach has the potential to provide a safer alternative to streptozotocin or alloxan for creating model systems for type 1 diabetes research.
Kilian Roßmann +17 more
wiley +2 more sources
Recurrent Neurodevelopmental Disorder Associated With a Dominant‐Negative TOP2B H63Y Variant
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT We describe a 7 year‐old boy with severe neurodevelopmental disorder, medically‐refractory epileptic encephalopathy, hyperkinetic movement disorder, hypotonia, cerebral and cerebellar atrophy and hypomyelination who was found to have a heterozygous de novo TOP2B NM_001330700.2:c.187C>T, p.(His63Tyr) variant.
Zong Yi Ha +6 more
wiley +1 more source
Abnormal Sex Chromosome Constitution. [PDF]
Clinical, laboratory, chromosomal and sex chromatin studies were made on 5 patients with abnormal sex chromosome constitution (XXXXY, XXXY, XXX, XO/XY and XY/XXY).
疋田, 政博 +3 more
core +1 more source