Results 151 to 160 of about 1,277,264 (308)
35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations
American Journal of Medical Genetics Part A, EarlyView.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
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman +15 more
wiley +1 more source
Women's HealthThe special collection on Maternal Health Considerations offers a comprehensive exploration of critical issues surrounding maternal well-being across diverse contexts and disciplines. Recognising that maternal health extends beyond the physiological realm, this collection delves into the multifaceted dimensions of maternal well-being, including ...
openaire +4 more sources
The constraints to good child care practices in Accra [PDF]
Life in urban areas presents special challenges for maternal child care practices. Data from a representative survey of households with children less than 3 years of age in Accra were used to test a number of hypothesized constraints to child care ...
Armar-Klemesu, Margaret +4 more
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m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr +5 more
wiley +1 more source
Shared labor-Public Private Partnerships for Maternal Health Equity. [PDF]
Health Aff SchLogendran R, Iragavarapu MS, Tecco H.
europepmc +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair +9 more
wiley +1 more source
Evidence on the Long Shadow of Poor Mental Health across Three Generations [PDF]
Individuals suffering from mental health problems are often severely limited in their social and economic functioning. Mental health problems can develop early in life, are frequently chronic in nature, and have an established hereditary component.
Johnston, David W. +2 more
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