• Publications
  • Influence
The Roles of Serum Leptin Concentration and Polymorphism in Leptin Receptor Gene at Codon 109 in Breast Cancer
TLDR
Serum leptin concentrations and polymorphism of the leptin receptor gene at codon 109 in premenopausal women appears to be associated with obesity and tumor progression, and an association between serum leptin concentration and tumors progression is suggested.
Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q
TLDR
This case represents the smallest distal duplication of chromosome 5q that is not associated with congenital heart defects, and provides evidence that the gene dosage effect of the NSD1 gene causes a reversed phenotype of microcephaly and short stature.
Meckel syndrome: genetics, perinatal findings, and differential diagnosis.
  • Chih-ping Chen
  • Medicine
    Taiwanese journal of obstetrics & gynecology
  • 1 March 2007
TLDR
Prenatal diagnosis of bilateral enlarged multicystic kidneys should alert MKS and prompt a thorough investigation of central nervous system malformations and polydactyly.
Traditional Chinese medicines and Alzheimer's disease.
TLDR
This review summarizes the latest research progress on six herbs for AD therapy and focuses on the analysis of their active components and possible mechanisms of pharmacological actions on AD.
Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks
TLDR
Results from a novel CNVConnect algorithm, prioritizing protein–protein interactions between products of genes in the 8p23.1 hotspot and products of previously known CDH causing genes, implicated GATA4, NEIL2, and SOX7 in diaphragmatic defects.
Fetal cystic lung lesions: Evaluation with magnetic resonance imaging
TLDR
To investigate the contribution of magnetic resonance imaging (MRI) to the diagnosis of fetal cystic lung lesions found on routine prenatal ultrasound (US), a large number of lesions were found to be associated with cystic fibrosis.
Prenatal diagnosis of the distal 11q deletion and review of the literature
TLDR
The prenatal diagnosis of de novo distal 11q deletions and a review of the literature are presented.
Polysomnographic characteristics in patients with mucopolysaccharidoses
TLDR
The overnight polysomnography will help to determine the abnormalities of breathing during sleep more precisely and urge the clinicians to take necessary action for patients with severe manifestations.
Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders: a review.
  • Chih-ping Chen
  • Medicine
    Taiwanese journal of obstetrics & gynecology
  • 1 March 2012
TLDR
Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders are provided and information acquired is helpful for genetic counseling and clinical management.
Chromosome 1p32-p31 deletion syndrome: prenatal diagnosis by array comparative genomic hybridization using uncultured amniocytes and association with NFIA haploinsufficiency, ventriculomegaly, corpus
TLDR
Fetuses with chromosome 1p32-p31 deletion syndrome and haploinsufficiency of the NFIA gene may present ventriculomegaly, corpus callosum hypogenesis, abnormal external genitalia, and intrauterine growth restriction in the third trimester.
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