Results 81 to 90 of about 1,216,067 (294)

Intestinal Atresia in PPP1R12A‐Related Urogenital and Brain Malformation Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PPP1R12A‐related urogenital and brain malformation syndrome (UBMS) is a newly described disorder characterized by congenital anomalies primarily involving the urogenital system and the brain. We describe a preterm female neonate with multiple congenital anomalies, including type IIIb jejunal atresia, incomplete intestinal rotation, imperforate
Adriana Gomes   +4 more
wiley   +1 more source

Depression Symptom Trajectories in Mothers With the FMR1 Premutation Vary by CGG Repeat Length: A Longitudinal Study of 73 Women Spanning 20–75 Years of Age

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (FXpm) are at heightened genetic vulnerability for depression, with risk compounded by the stressors of parenting a disabled child. Although risk factors persist as FXpm women age, depression in FXpm mothers during midlife and old age is poorly characterized. This study used an accelerated longitudinal design to
Jessica Klusek   +8 more
wiley   +1 more source

Participation of Mothers in the Care of Premature Infants and its Associated Factors

open access: yesJournal of Holistic Nursing and Midwifery, 2017
Introduction: Parental participation in the care of and support to premature infants is the main factor in accelerating health improvement and growth of infants in the neonatal unit.
Sharare Zabihi Afroozi   +4 more
doaj  

Faktor Ibu dan Faktor Bayi Dengan Respon Fisiologi (Saturasi O2) Pada Bayi Prematur Yang Dilakukan Developmental Care

open access: yesJurnal Kesehatan, 2017
Prematurity is the leading cause of death in children under the age of 5 years in the world and in Indonesia in 2012 recorded around 675,700 or 15.5 per 100 births.
Gustop Amatiria, Armen Patria
doaj   +1 more source

THE UREA CLEARANCE OF YOUNG PREMATURE AND FULL TERM INFANTS 12 [PDF]

open access: bronze, 1942
Harry H. Gordon   +2 more
openalex   +1 more source

Genome‐Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The research of single gene‐related disorders or pathogenic copy‐number variations (CNVs) has given a significant impetus to the shift from a diagnostic work‐up focused on epileptic syndromes to genomic approaches in individuals with severe pediatric‐onset epilepsies and in developmental and epileptic encephalopathies.
Mario Mastrangelo   +5 more
wiley   +1 more source

Adverse Cardiovascular Risk Profile and Increased Diurnal Salivary Cortisol in Girls With Turner Syndrome: An Exploratory Study

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Patients with Turner Syndrome (TS) and those exposed to high concentrations of glucocorticoids have a number of characteristics in common, including an increased risk of cardiovascular disease. Pediatric TS patients underwent studies of salivary cortisol (SC) and cortisone (SCn), body composition, continuous glucose monitoring, vascular ...
Lily Jones   +6 more
wiley   +1 more source

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