Results 201 to 210 of about 179,410 (264)

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

A Preliminary Study of Correlates of Premature Birth and Their Influence on Cortisol Levels in Young Children. [PDF]

Biol Res Nurs
Kloosterboer S, Anolda Naber FB, Heyman H, Hoffmann-Haringsma A, Brunt TM.   +4 more
europepmc   +1 more source

Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Stickler syndrome is most commonly caused by variants in COL2A1 and COL11A1 genes. The purpose of this study was to describe genetic variants and phenotypes in COL2A1 and COL11A1 Stickler syndrome. We performed a retrospective genotype–phenotype evaluation of COL2A1 and COL11A1 Stickler syndrome subjects. Thirty‐two subjects with COL2A1 and 13
Aileen G. MacLachlan, Jessica A. Kraker, Denise J. Morgan, Lisa A. Schimmenti, M. Elizabeth Hartnett, Eileen S. Hwang   +5 more
wiley   +1 more source

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

Interaction of FXTAS Family History and College Degree Attainment Predicts Trajectories of Cognitive and Motor Symptoms in FMR1 Premutation Carrier Women

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The present longitudinal study focuses on FMR1 premutation carrier women during midlife and early old age (n = 115). Bringing together the genetic risk factor of a family history of FXTAS and the environmental protective factor of higher education, the goal of the study was to determine how these factors potentially interact to predict self ...
Jinkuk Hong, Leann Smith DaWalt, Jessica Klusek, Elizabeth M. Berry‐Kravis, Marsha Mailick   +4 more
wiley   +1 more source

Development and validation of a self-management self-efficacy scale for premature birth prevention (SMSE-PBP) for women of childbearing age. [PDF]

BMC Womens Health
Kim SH, Lee YJ.
europepmc   +1 more source

Developmental trajectory of thalamus topography during the late preterm and perinatal period in normal development, after premature birth and in congenital heart defects

Ji H, Wu Z, Speckert A, Tuura R, Hagmann C, Latal B, Knirsch W, Jakab A.   +7 more
europepmc   +1 more source

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Prevention of Premature Birth

New England Journal of Medicine, 1998
Preterm birth, which occurs in 11 percent of all pregnancies, is responsible for the majority of neonatal deaths and nearly one half of all cases of congenital neurologic disability, including cerebral palsy.1 Although all births before 37 weeks of gestation are considered premature, births before 32 weeks' gestation (2 percent of all births) account ...
R L, Goldenberg, D J, Rouse
openaire   +4 more sources

A study of premature births

The Indian Journal of Pediatrics, 1971
In this study, 252 prematures were seen among 2,886 deliveries. The average prematurity rate was 8.73 per cent. Most of the prematures (36.5 per cent) were born of women 21–25 years of age. The premature babies were most frequently (46.1 per cent) associated with the birth order of 1–3. Prematurity rate increased progressively from the most favoured to
S, Mukherjee, S N, Mukherjee
openaire   +2 more sources