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[Detection of subtelomeric rearrangements in patients with idiopathic mental retardation/developmental delay].

The subtelomeric rearrangements were found in 10% patients with idiopathic mental retardation/developmental delays and indicated that subtelomes should be one of major reasons of MR/DD related to genetic factors.
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Mandibuloacral dysplasia type A-associated progeria caused by homozygous LMNA mutation in a family from Southern China

The same homozygous mutation of c.1579C > T of LMNA gene led to MADA associated progeria for the present family.
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[Multiplex ligation-dependent probe amplification analysis of subtelomeric chromosome rearrangements in children with idiopathic mental retardation].

Subtelomeric rearrangement is a common cause of idiopathic mental retardation and to search the cause of MR.
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Molecular screening of FMR1 mutation among autism patients in China

A simple, easy, rapid and economical PCR-based molecular screening approach for detecting FMR1 CGG repeats is developed and used in clinical practice for screening FXS high-risk population among pregnant women and MR children whose genetic etiology is yet unknown.

[The same mutation Glu208Lys in the GJB1 gene was detected in 2 families with X-linked Charcot-Marie-Tooth disease].

Mutation of GJB1 gene was investigated in two families with X-linked Charcot-Marie-Tooth disease, found that the samples of all patients and one little girl with normal phenotype showed an abnormal SSCP band, but not detected in the other unaffected members in the first large family.
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[Methylation-specific multiplex ligation-dependent probe amplification in diagnosis of Prader-Willi syndrome and Angelman syndrome].

It is found that methylation-specific multiplex ligation-dependent probe amplification is a simple, rapid, accurate, and reliable method of genetic test for AS and PWS.
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[The correlation of CAGs repeat size with age of onset in patients with Kennedy's disease].

It is found that in Kennedy' disease, as well as in other CAG repeat diseases, the length of polyglutamine tract determines the age of onset, but has no correlation with the severity of the disease.
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Molecular screening of FMR 1 mutation among autism patients in China O riginal article

A pilot study of molecular screening of FMR1 mutation in a subset of Chinese autism patients is presented, finding that FXS accounts for 3.2% of the Chinese mental retarded population.

Clinical and genetic features of DYT1 and DYT5.

  • Xiao-zhu WangN. Zhong
  • Biology, Medicine
    Beijing da xue xue bao. Yi xue ban = Journal of…
  • 18 February 2006
Two subtypes of dystonia are discussed, DYT1 andDYT5, which are caused by the mutation of DyT1 gene, which leads to TORSINA abnormal.
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Detection of microdeletion syndromes by fluorescence in situ hybridization based on degenerate oligonucleotide primed-PCR

The optimized method developed enables generation of probes to run faster without spending much time on isolating BAC-DNA and could be applied in FISH analysis for the detection of microdeletion syndromes.
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