Results 171 to 180 of about 1,181,122 (400)
A consensus statement on health-care transition of patients with childhood-onset chronic kidney diseases: providing adequate medical care in adolescence and young adulthood [PDF]
, 2018 Wataru Kubota +22 more
openalex +1 more source
A Systematic Review and Meta‐Analysis of the Birth Prevalence of Turner Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Turner syndrome, a chromosomal disorder, causes short stature, pubertal arrest, amenorrhea, and infertility in females. Prevalence estimates vary widely; however, reliable estimates are important for public health initiatives. Therefore, a meta‐analysis was undertaken.
David Hinds +5 more
wiley +1 more source
A Novel Missense Variant in LMX1A Leads to Autosomal Dominant Nonsyndromic Hearing Loss
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Hereditary nonsyndromic hearing loss (NSHL) is a prevalent entity associated with over 150 known causative genes, including LMX1A, which has fewer than 10 reported pathogenic variants. Here we present a novel missense variant in LMX1A in a family of European descent with hereditary hearing loss. Clinical and family histories were obtained, and
Ryan Chen +3 more
wiley +1 more source
The influence of factors identified in adolescence and early adulthood on social class inequities of musculoskeletal disorders at age 30: a prospective population-based cohort study [PDF]
, 2004 Mohsina Khatun
openalex +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Smith‐Kingsmore syndrome (SKS) is a rare autosomal dominant condition characterized by neurodevelopmental differences, macrocephaly/megalencephaly, describable facial features, sleep–wake abnormalities, hyperphagia, and overgrowth. SKS is caused by pathogenic gain‐of‐function variants in MTOR which lead to hyperactivation of the mTOR pathway ...
Carolyn R. Raski, Carlos E. Prada
wiley +1 more source
Menstrual Cycle Characteristics in Adolescence and Early Adulthood Are Associated With Risk of Early Natural Menopause [PDF]
, 2018 Brian W. Whitcomb +5 more
openalex +1 more source
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT We examined the relationship between adverse childhood experiences (ACEs) and epigenetic age acceleration (EAA) in adulthood as measured by second and third generation epigenetic clocks by performing a systematic review of the literature. The electronic databases MEDLINE and EMBASE were searched on 17 July 2023.
Matthew Green +2 more
wiley +1 more source