13 Result(s)
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Article
Bai-Lin Wu
English
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Article
Majority of transferred mosaic embryos developed healthy live births revealed by a preclinical study using embryonic morphology assessment and noninvasive PGT-A on cell-free DNA in blastocoel fluid
This preclinical study aimed to evaluate whether using transferred mosaic embryos (primarily selected by embryonic morphology assessment (EMA) and compared by the noninvasive preimplantation genetic testing fo...
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GABA Signaling Pathway-associated Gene PLCL1 Rare Variants May be Associated with Autism Spectrum Disorders
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Open AccessAssociation analysis between HFM1 variations and idiopathic azoospermia or severe oligozoospermia in Chinese Men
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Extracellular Cl− regulates human SO4 2−/anion exchanger SLC26A1 by altering pH sensitivity of anion transport
Genetic deficiency of the SLC26A1 anion exchanger in mice is known to be associated with hyposulfatemia and hyperoxaluria with nephrolithiasis, but many aspects of human SLC26A1 function remain to be explored....
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Open AccessParenting stress and affective symptoms in parents of autistic children
We examined parenting stress and mental health status in parents of autistic children and assessed factors associated with such stress. Participants were parents of 188 autistic children diagnosed with DSM-IV ...
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Open AccessGenetic architecture, epigenetic influence and environment exposure in the pathogenesis of Autism
Autism spectrum disorder (ASD) is a spectral neurodevelopment disorder affecting approximately 1% of the population. ASD is characterized by impairments in reciprocal social interaction, communication deficits...
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The adult galactosemic phenotype
Classic galactosemia is an autosomal recessive disorder due to galactose-1-phosphate uridyltransferase (GALT) deficiency. Newborn screening and early treatment do not completely prevent tremor, speech deficits...
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Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
Underweight and obese phenotypes can both pose health risks. But whereas obesity has been associated with a number of genetic variants, little is known about the genetic basis of underweight. A large-scale scr...
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Open AccessAutomated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes
One of the most common and efficient methods for detecting mutations in genes is PCR amplification followed by direct sequencing. Until recently, the process of designing PCR assays has been to focus on indivi...
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Open AccessGJB2 mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment
Mutations in GJB2 are the most common molecular defects responsible for autosomal recessive nonsyndromic hearing impairment (NSHI). The mutation spectra of this gene vary among different ethnic groups.
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Unique chromosome identification and sequence-specific structural analysis with short PNA oligomers
We have extended our earlier work to show that individual 14–20mer peptide nucleic acid probes directed against interspersed α-satellite sequences can specifically identify chromosomes. Peptide nucleic acid (...
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Somatic mosaicism for deletion of the entire NF1 gene identified by FISH
We report a young child with a large congenital cervical plexiform neurofibroma and multiple café-au-lait spots in a generalized distribution who has mosaicism for complete deletion of the NF1 gene. The deletion...
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Localization of the gene for human heart fatty acid binding protein to chromosome 1p32-1p33
Heart fatty acid binding protein (hFABP) is an abundant 14-kDa cytosolic protein thought to be involved in trafficking of fatty acids from the plasma membrane to sites of β-oxidation in mitochondria and peroxi...
