Results 131 to 140 of about 5,793,459 (255)

Dietary behaviour by maternal age.

, 2018
Dietary behaviour by maternal age.
Victoria Burley (3524465), Hora Soltani (3524471), Katie Marvin-Dowle (3524468), Karen Kilner (4284238)   +3 more
core   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

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, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

Association between adolescent pregnancy and infant mortality: a population-based study

Frontiers in Pediatrics
BackgroundBangladesh continues to grapple with a persistently high infant mortality rate, currently at 38 deaths per 1,000 live births. Adolescent pregnancy poses significant health risks for both mothers and infants globally, yet its specific impact on ...
Farhana Rahman, Mamunur Rashid, Mohammad Rocky Khan Chowdhury, Mohammad Rocky Khan Chowdhury, Manzur Kader   +4 more
doaj   +1 more source

Clinical and Molecular Characterization of 46 Patients With Beckwith–Wiedemann Spectrum and Uniparental Disomy of 11p15

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Beckwith–Wiedemann spectrum (BWSp) is an overgrowth disorder characterized by its main clinical features macrosomia, macroglossia, and abdominal wall defects. BWSp is caused by (epi)genetic chromosome 11p15 alterations with approximately 20%–27% of patients exhibiting mosaic paternal uniparental disomy of chromosome 11p15 (pUPD11p15).
Saskia M. Maas, Peter Lauffer, Niels Vos, Paola Lombardi, Marcel M. A. M. Mannens, Youp Zegers, Laura J. C. M. van Zutven, Aeilko H. S. Zwinderman, Mieke M. van Haelst, Jet Bliek   +9 more
wiley   +1 more source

Maternal age and progesterone levels at trigger day as independent predictors of clinical pregnancy in poor ovarian responders undergoing IVF/ICSI: a retrospective analysis

Frontiers in Endocrinology
BackgroundPoor ovarian response (POR) during in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI) significantly compromises clinical pregnancy outcomes.
Xingyu Sun, Lijuan He, Ling Liu, Shaohua Wang   +3 more
doaj   +1 more source

Delayed Recognition of Maternal G6PD Heterozygous Status Across Prenatal and Newborn Care Interfaces

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency is the most common red blood cell enzymatic disorder worldwide. Although many heterozygotes are asymptomatic, affected neonates have an increased risk for hyperbilirubinemia and related complications.
Mona M. Makhamreh, Ramiah R. Vickers, Cheryl Mensah, Wanda Dosal, Jennifer R. McKinney, April D. Adams   +5 more
wiley   +1 more source

Maternal age and twinning.

, 2018
TRs among different classes of maternal age in Brazil, 2001–2014.
Ursula Matte (328018), Marcelo Zagonel de Oliveira (634736), Sidia Maria Callegari-Jacques (144745), Márcia Helena Barbian (5540723), Maria Teresa Vieira Sanseverino (348505), Lavínia Schuler-Faccini (5540720), Juliano Boquett (5540717), Augusto César Cardoso-dos-Santos (5540726)   +7 more
core   +1 more source

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

Selection, maternal effects and inbreeding in reindeer husbandry [PDF]

, 2003
In extensive grazing systems where several owners’ flocks are allowed to mix, selection strategies will also interact, due to gene flow between flocks. The aim of the thesis was to analyse breeding schemes in terms of genetic gain and rate of inbreeding (
Rönnegård, Lars
core  

First Report of Uniparental Isodisomy of Chromosome 15 Revealing Angelman Syndrome and Microphthalmia Associated With a Novel Homozygous ALDH1A3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Paternal isodisomy of chromosome 15 (iUPD15) is a recognized cause of Angelman syndrome (AS), accounting for approximately 2%–5% of cases. Additionally, another recognized consequence of iUPD is the unmasking of autosomal recessive disorders. However, reports of recessive disorders resulting from iUPD15 remain scarce in the literature.
Gabriela Roldão Correia‐Costa, Joana Rosa Marques Prota, Antonia Paula Marques‐de‐Faria, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source