Results 31 to 40 of about 663,516 (307)
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
Severe congenital microcephaly with AP4M1 mutation, a case report [PDF]
, 2017 Background: Autosomal recessive defects of either the B1, E1, M1 or S1 subunit of the Adaptor Protein complex-4 (AP4) are characterized by developmental delay, severe intellectual disability, spasticity, and occasionally mild to moderate microcephaly of ...
Abramowicz, Marc +6 more
core +2 more sources
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
Prenatal sonographic findings in confirmed cases of Wolf-Hirschhorn syndrome
BMC Pregnancy and Childbirth, 2022 Background Wolf-Hirschhorn syndrome (WHS) is a common genetic condition and prenatal diagnosis is difficult due to heterogeneous expression of this syndrome and rather non-specific ultrasound findings.
Corinna Simonini +5 more
doaj +1 more source
The Safety Appliance Act and the FELA: A Plea for Clarification [PDF]
, 1953 The aim of this thesis is to analyse and examine the debate on prenatal testing in Western countries, with a special focus on my own country, Sweden. In the near future it might be possible for a pregnant woman to profile the DNA of her foetus with a ...
Louisell, David W., Anderson, Kenneth M.
core +1 more source
FEBS Letters, EarlyView.We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
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
Treatment for congenital toxoplasmosis: finding out what works [PDF]
, 2009 Evidence for the effectiveness of prenatal or postnatal treatment for congenital toxoplasmosis will be critical to guide policy about prenatal and neonatal screening over the next 10 years, let alone the next 100.
Gilbert, R
core +3 more sources
FEBS Open Bio, EarlyView.Early‐life exposure to a high‐fat diet altered intact Achilles tendons in rat offspring, making them thinner, stiffer, and molecularly distinct even without injury. These findings suggest that developmental high‐fat diet exposure may impair tendon quality and increase susceptibility to mechanical overload or tendon injury later in life.
Heyong Yin +3 more
wiley +1 more source
Scientific Reports, 2023 Sertoli cell-only syndrome (SCOS), a severe testicular spermatogenic failure, is characterized by total absence of male germ cells. To better expand the understanding of the potential molecular mechanisms of SCOS, we used microarray datasets from the ...
Yuting Jiang +6 more
doaj +1 more source