Results 131 to 140 of about 641,599 (303)
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Ernst Rüdin, an important and controversial figure in the history of psychiatric genetics, published only one major empirical study on siblings of dementia praecox (DP) probands in 1916. He conducted a parallel study of siblings of probands with manic‐depressive insanity (MDI), but the resulting monograph, written in the early 1920s, was left ...
Kenneth S. Kendler, Astrid Klee
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline +3 more
wiley +1 more source
Understanding the Effects of Siblings on Child Mortality: Evidence from India [PDF]
This paper examines the efffect of siblings on child mortality in the Indian state of West Bengal arguing that prior and posterior spacing between consecutive siblings are important measures of the intensity of competition among siblings for limited ...
Gerald Makepeace, Sarmistha Pal
core
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt +9 more
wiley +1 more source
Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady +10 more
wiley +1 more source
The Impact of Childhood Health on Adult Labor Market Outcomes [PDF]
This paper uses some unique data derived from the Panel Survey of Income Dynamics that has followed groups of siblings and their parents for as long as thirty years.
James Smith
core
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Bladder exstrophy and epispadias complex (BEEC) is one of the most severe congenital malformations of the urogenital tract, significantly impacting continence, sexual function, and renal function. To date, the only recurrent genetic aberration identified is the 22q.11.2 microduplication, but several candidate regions and genes including ...
Agneta Nordenskjöld +9 more
wiley +1 more source
Parental Impact on Attitude Formation - A Siblings Study on Worries about Immigration [PDF]
The existing literature on attitudes towards immigration has not accounted for the potential effect of unobservable home education on attitude formation.
Jan Brenner
core
Eurocentric Bias in Dysmorphology and Medical Genetics Education
American Journal of Medical Genetics Part A, EarlyView.
D' Arcy B. Prendergast +3 more
wiley +1 more source