Results 111 to 120 of about 252,586 (336)
Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle +26 more
wiley +1 more source
A Population‐Based Assessment of Cancer Risk in Children With VACTERL
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cancer risk in children with VACTERL, a nonrandom co‐occurrence of ≥ 3 defects (vertebral, anal, cardiac, tracheoesophogeal fistula, renal, and limb), remains unclear. We evaluated this association in a population‐based study. We analyzed data from the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Study, a US registry linkage ...
Ji Yun Tark +15 more
wiley +1 more source
Socioeconomic inequality in timing of ANC visit among pregnant women in Ethiopia, 2019
Frontiers in Public HealthBackgroundAntenatal care (ANC) remains an invaluable approach to preventive care for ensuring maternal and infant health outcomes. Women in sub-Saharan Africa tend to delay their first antenatal care visits.
Atitegeb Abera Kidie +11 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes +3 more
wiley +1 more source
Health disparities in chronic liver disease
Hepatology, EarlyView., 2022 Abstract The syndemic of hazardous alcohol consumption, opioid use, and obesity has led to important changes in liver disease epidemiology that have exacerbated health disparities. Health disparities occur when plausibly avoidable health differences are experienced by socially disadvantaged populations.
Ani Kardashian +3 more
wiley +1 more source
Hubungan Pengetahuan Ibu Hamil Dengan Keteraturan Pemeriksaan Antenatal Care Di Puskesmas Bahu Kecamatan Malalayang Kota Manado [PDF]
, 2013 : Antenatal care is the health service carried out by health workers to the mother during her pregnancy antenatal service standard compliance. Utilization of antenatal care services by a number of pregnant women in Indonesia has not fully in accordance ...
Madianung, A. (Agnes) +2 more
core
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston +35 more
wiley +1 more source