Results 31 to 40 of about 679,454 (300)
BMC Cardiovascular Disorders, 2020 Background TAB2 is an activator of MAP 3 K7/TAK1, which is required for the IL-1 induced signal pathway. Microdeletions encompassing TAB2 have been detected in various patients with congenital heart defects (CHD), indicating that haploinsufficiency of ...
Jia Chen +10 more
doaj +1 more source
Gynecology and Obstetrics Clinical Medicine, 2021 Background: Mutations and/or duplications in the chromosome 2q24.3 region are known to be responsible for various epilepsy phenotypes. However, microdeletion in childhood epilepsy is rarely reported. Case presentation: A two-and-a-half-year-old girl with
Wen-cheng Dai +6 more
doaj +1 more source
Cognitive deficit in 7-year-old children with prenatal exposure to methylmercury.
Neurotoxicology and Teratology, 1997 A cohort of 1022 consecutive singleton births was generated during 1986-1987 in the Faroe Islands. Increased methylmercury exposure from maternal consumption of pilot whale meat was indicated by mercury concentrations in cord blood and maternal hair.
P. Grandjean +9 more
semanticscholar +1 more source
Molecular Cytogenetics, 2020 Background Defining the phenotype-genotype correlation of small supernumerary marker chromosomes (sSMCs) remains a challenge in prenatal diagnosis. We karyotyped 20,481 amniotic fluid samples from pregnant women and explored the molecular characteristics
Lili Zhou +6 more
doaj +1 more source
The evolution of prenatal care delivery guidelines in the United States
American Journal of Obstetrics and Gynecology, 2020 The coronavirus disease 2019 pandemic led to some of the most drastic changes in clinical care delivery ever seen in the United States. Almost overnight, providers of prenatal care adopted virtual visits and reduced visit schedules.
A. Peahl, J. Howell
semanticscholar +1 more source
Prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis
Molecular Cytogenetics, 2022 Background There are a few literature reports of prenatal ultrasound manifestations of Williams-Beuren syndrome. We aimed to explore the prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis and describe the ...
Ruibin Huang +14 more
doaj +1 more source
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source
Promises, pitfalls and practicalities of prenatal whole exome sequencing
Prenatal Diagnosis, 2017 Prenatal genetic diagnosis provides information for pregnancy and perinatal decision‐making and management. In several small series, prenatal whole exome sequencing (WES) approaches have identified genetic diagnoses when conventional tests (karyotype and
Sunayna K. Best +5 more
semanticscholar +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou +6 more
wiley +1 more source
Genetics ResearchAutism spectrum disorders (ASDs) are heterogeneous neurodevelopmental conditions with complex genetic etiologies. Recent advances in whole exome sequencing (WES) have enabled comprehensive detection of clinically relevant variants, particularly single ...
Zhiwei Wang +4 more
doaj +1 more source