Results 101 to 110 of about 16,178,120 (306)
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
Biology as Destiny? Short and Long-Run Determinants of Intergenerational Transmission of Birth Weight [PDF]
Little is known about the mechanisms underlying the transfer of economic status between generations. This paper addresses the question of whether inter-generational correlations in health contribute to the perpetuation of economic status.
Janet Currie, Enrico Moretti
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The effects of designation and volume of neonatal care on mortality and morbidity outcomes of very preterm infants in England : retrospective population-based cohort study [PDF]
, 2014 Objective: To examine the effects of designation and volume of neonatal care at the hospital of birth on mortality and morbidity outcomes in very preterm infants in a managed clinical network setting.
Draper, E S +27 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Genetic modifiers of Duchenne muscular dystrophy (DMD) that alter disease severity or response to therapy have been reported using natural history or registry data sets of older corticosteroid‐treated patients. We tested associations of genetic modifiers on motor function outcomes in young (4 to < 7 years) steroid naïve clinical trial ...
Utkarsh J. Dang +16 more
wiley +1 more source
Exploring the Racial Gap in Infant Mortality Rates, 1920-1970 [PDF]
This paper examines the racial gap in infant mortality rates from 1920 to 1970. Using state-level panel data with information on income, urbanization, women's education, and physicians per capita, we can account for a large portion of the racial gap in ...
Melissa A. Thomasson, William J. Collins
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto +5 more
wiley +1 more source
Risk factors of children's low birth weight and infant mortality in Bangladesh: Evidence from binary logistic regression and Cox PH models [PDF]
Background Low birth weight is recognized as a pivotal risk factor affecting child survival and growth. Although Bangladesh has made commendable progress in public health, an infant mortality rate of 38 per 1000 live births and a 16% prevalence of low ...
Rahman, Zubaidur +3 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno +8 more
wiley +1 more source
Economic Crises, Maternal and Infant Mortality, Low Birth Weight and Enrollment Rates: Evidence from Argentina’s Downturns [PDF]
Este estudio investiga el impacto de las recientes crisis en Argentina (incluyendo la grave recesión de 2001-2002) en la salud y la educación. La estrategia de identificación se basa en la covarianza entre los cambios en el PIB regional y los resultados ...
Pablo Glüzman +2 more
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Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale +2 more
wiley +1 more source