Results 31 to 40 of about 936,805 (385)
Discrepancy of QF-PCR, CMA and karyotyping on a de novo case of mosaic isodicentric Y chromosomes
Molecular Cytogenetics, 2019 Background Isodicentric chromosomes are the most frequent structural aberrations of human Y chromosome, and usually present in mosaicism with a 45, X cell line.
Yuan Liu +9 more
doaj +1 more source
Molecular Cytogenetics, 2019 Background In prenatal diagnosis, CMA has begun to emerge as a favorable alternative to karyotype analysis, but it could not identify balanced translocations, triploidies, inversion and heteromorphisms.
Jian Jiang Zhu +9 more
doaj +1 more source
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
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
Science Advances, 2018 DNA methylation mediates the association of prenatal famine exposure with higher adult BMI and serum triglyceride levels. Although it is assumed that epigenetic mechanisms, such as changes in DNA methylation (DNAm), underlie the relationship between ...
E. Tobi +10 more
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
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 and Motor Outcomes of Children With Prenatal Opioid Exposure
JAMA Network Open, 2019 Key Points Question Is prenatal opioid exposure associated with differences in childhood cognitive and motor development? Findings In this systematic review and meta-analysis of 26 studies including 1455 children exposed to prenatal opioids compared with
S. L. Yeoh +6 more
semanticscholar +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
Molecular Genetics & Genomic Medicine, 2022 Dystrophic epidermolysis bullosa (DEB) is a series of severe genetic conditions affecting skin and nails caused by mutations in the COL7A1 gene. DEB has a strong phenotypic variability.
Li‐min Cui +8 more
doaj +1 more source