Results 111 to 120 of about 679,454 (300)

Optical genome mapping of a complex structural rearrangement family line on chromosome 18

Hereditas
Background Complex chromosomal rearrangement (CCR) refers to a structural rearrangement involving at least two chromosomes or a minimum of three breakpoints.
Liyi Cai, Yuying Jiang, Na Zhang, Xinying Chen   +3 more
doaj   +1 more source

Sex‐specific autistic endophenotypes induced by prenatal exposure to valproic acid involve anandamide signalling

British Journal of Pharmacology, 2018
Autism spectrum disorder (ASD) is more commonly diagnosed in males than in females. Prenatal exposure to the antiepileptic drug valproic acid (VPA) is an environmental risk factor of ASD.
F. Melancia, S. Schiavi, M. Servadio, Veronica Cartocci, P. Campolongo, M. Palmery, V. Pallottini, V. Trezza   +7 more
semanticscholar   +1 more source

Reframing Trisomy 13 and 18 Care: Moving Beyond the Myth of “Incompatibility With Life” in a South African and Low‐and Middle‐Income Country Context

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Trisomy 13 (T13) and trisomy 18 (T18) have historically been described as “lethal” or “incompatible with life,” contributing to diagnosis‐based limitations of care. Contemporary evidence demonstrates greater heterogeneity in survival and outcomes than previously recognized, including among selected children receiving intensive care or cardiac ...
H. L. Malherbe, M. Araujo, L. Balimba, J. A. Joshi, P. Makhetha, M. Meiring, M. T. Mpe, D. Reddy, B. Shingwenyana, J. C. Carey   +9 more
wiley   +1 more source

Placental H3K27me3 establishes female resilience to prenatal insults

Nature Communications, 2018
Although sex biases in disease presentation are well documented, the mechanisms mediating vulnerability or resilience to diseases are unknown. In utero insults are more likely to produce detrimental health outcomes for males versus females.
B. M. Nugent, Carly M. O’Donnell, C. Epperson, T. Bale   +3 more
semanticscholar   +1 more source

Pregnant women's and their partners' perception of an information model on prenatal screening

, 2012
Objective: Extended verbal information on prenatal screening was given when combined ultrasound and biochemistry screening test was offered at Örebro County Council, Sweden, in 2008. The aim of this study was to describe pregnant women's and her partners'
Wätterbjörk, Inger,, Blomberg, Karin,, Sahlberg-Blom, Eva,, Nilsson, Kerstin,   +3 more
core   +1 more source

UBE3A Dosage Imbalance as a Molecular Framework Linking Angelman Syndrome and Dup15q‐Associated Autism Phenotypes

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT UBE3A is a dosage‐sensitive HECT E3 ubiquitin ligase whose neuronal expression is shaped by genomic imprinting at the 15q11.2‐q13 locus. Opposite directions of UBE3A dosage imbalance contribute to distinct neurodevelopmental phenotypes: loss of maternal UBE3A underlies Angelman syndrome, whereas maternally derived 15q11.2‐q13 copy‐number gains,
Ruslan Kurmashev
wiley   +1 more source

Maternal Factors Modifying the Link Between Genetic Risk for Autism and Developmental Milestones

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Although common genetic liability—quantified through polygenic risk scores (PRS)—accounts for substantial variance in autism spectrum disorder (ASD) liability, how prenatal environmental exposures interact with genetic predisposition to shape developmental outcomes remains poorly understood. Using the data from Autism Genetic Resource Exchange
Liliana D'Alesio, Vishani Nimish Patel, McKenna Walsh, Erick Messias, Ping‐I Lin   +4 more
wiley   +1 more source

A fetus with paternal uniparental isodisomy of chromosome 3: genetic analysis and prenatal diagnosis following a positive NIPS with IUGR

Molecular Cytogenetics
Objective To report a rare prenatal case of paternal uniparental isodisomy of chromosome 3 (upd(3)pat) associated with isolated intrauterine growth restriction (IUGR).
Fang Zhang, ShanShan Ma, Yongan Wang, Shuai Men, Rong Zhang, Ting Yin   +5 more
doaj   +1 more source

Prenatal diagnosis of 4953 pregnant women with indications for genetic amniocentesis in Northeast China

Molecular Cytogenetics, 2019
Background Several different technologies are used for prenatal screening procedures and genetic diagnostic technologies. We aimed to investigate the rates of chromosomal abnormalities in cases with different abnormal prenatal indications and to ...
Rulin Dai, Yang Yu, Qi Xi, Xiaonan Hu, Haibo Zhu, Ruizhi Liu, Ruixue Wang   +6 more
doaj   +1 more source

Clinical performance of non‐invasive prenatal testing (NIPT) using targeted cell‐free DNA analysis in maternal plasma with microarrays or next generation sequencing (NGS) is consistent across multiple controlled clinical studies

, 2015
To evaluate the clinical performance of non-invasive prenatal testing for trisomy 21, 18, and 13 using targeted cell-free DNA ...
Wang, Eric, Sparks, Andrew, Bo. Jacobsson, Musci, Thomas, Kypros Nicolaides, Karen White, Annette Batey, Jacobsson, Bo,, Madhumitha Balanarasimha, Renee Stokowski, Herb Brar, Desiree Hollemon, Nicolaides, Kypros, White, Karen, Thomas J. Musci, Stokowski, Renee, Batey, Annette, Andrew Sparks, Brar, Herb, Eric Wang, Hollemon, Desiree, Balanarasimha, Madhumitha   +21 more
core   +1 more source