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Human Genetics   Research Article

Prenatal diagnosis of ventricular septal defect and trisomy 7q11.23q21.3 in two fetuses: A case report

Authors: Kai Mu, Li-Sha Chen, Juan Wen, Yi Liu, Na Liu, Dong-Hua Cao

The objective of prenatal diagnosis (PD) is to provide prenatal diagnostic testing services for genetic conditions that enable families to make informed choices consistent with their individual needs and values, and to support them in deal with the outcome of such testing. This case we reported is about two fetuses with ventri.. Read More»

Genet. Mol. Res. 17(1):
gmr16039878
DOI:
10.4238/gmr16039878
Microbial Genetics   Research Article

Validation of quantitative fluorescent-PCR for rapid prenatal diagnosis of common aneuploidies in the Chinese population

Authors: A.-Q. Xu, M. Xia, J.-T. Liu, F.-X. Yao, W.-M. Zhang, N. Hao, J. Zhou and X.-M. Bian

Quantitative fluorescent polymerase chain reaction (QF-PCR) is an accurate and reliable method for rapid detection of aneuploidy; however, it is not routinely used in China. We aimed to validate QF-PCR as a means for prenatal common aneuploidy screening and to analyze the heterozygosities of short tandem repeat (STR) markers in the Chinese population. The.. Read More»

Genet. Mol. Res. 12(4):
2013.December.9.1
DOI:
10.4238/2013.December.9.1
Human Genetics   Research Article

Infertility caused by male partners with genetic defects in Sichuan Province of China

Authors: Q. Quan, T.J. Li, X.P. Ding, J. Wei, L.X. Li and L. Fu

The purpose of this study was to detect chromosomal aberrations and azoospermia factor (AZF) microdeletions in male patients with reproductive problems and to summarize related clinical features to provide reliable information for evaluating prenatal and preimplantation diagnoses. A large cohort of 5083 men with various phenotypes of male infertility was .. Read More»

Genet. Mol. Res. 12(4):
2013.December.11.2
DOI:
10.4238/2013.December.11.2
Human Genetics   Research Article

Combined genetic and imaging diagnosis for two large Chinese families affected with Pelizaeus-Merzbacher disease

Authors: Y. Lv, L.H. Cao2, H. Pang, L.N. Lu, J.L. Li, Y. Fu, S.L. Qi4, Y. Luo and J. Li-Ling

Pelizaeus-Merzbacher disease (PMD) is a rare X-linked recessive disorder characterized by nystagmus, impaired motor development, ataxia, and progressive spasticity. Genetically defective or altered levels of proteolipid protein (PLP1) or gap-junction alpha protein 12 gene have been found to be a common cause. Here we report on.. Read More»

Genet. Mol. Res. 11(3):
2012.August.6.7
DOI:
10.4238/2012.August.6.7
Human Genetics   Research Article

Prenatal diagnosis of Chinese families with phenylketonuria

Authors: N. Liu1, X.D. Kong1, D.H. Zhao2, Q.H. Wu1, X.L. Li2, H.F. Guo4, L.X. Cui4,M. Jiang1 and H.R. Shi3

The aim of this study is to investigate the ability to prenatally diagnose phenylketonuria (PKU) by using phenylalanine hydroxylase (PAH) gene mutation analysis combined with short tandem repeat (STR) linkage analysis in 118 fetuses from 112 Chinese families. Genomic DNA was extracted from the peripheral blood from members of 112 families and the exons an.. Read More»

Genet. Mol. Res. 14(4):
2015.November.18.25
DOI:
10.4238/2015.November.18.25
Medical Genetics   Research Article

Clinical and cytogenetic results of a series of amniocentesis cases from Northeast China: a report of 2500 cases

Authors: N. An, L.L. Li, R.X. Wang, L.L. Li, J.M. Yue and R.Z. Liu

The aims of this study were to demonstrate the clinical and cytogenetic results of amniocentesis (AS) cases in Northeast China, to compare the incidence of different kinds of chromosomal abnormalities, and to study the association between the detection rate of chromosomal abnormalities and different indications for prenatal di.. Read More»

Genet. Mol. Res. 14(4):
2015.December.1.18
DOI:
10.4238/2015.December.1.18
Human Genetics   Research Article

A novel 3-base pair deletion of the CRYAA gene identified in a large Chinese pedigree featuring autosomal dominant congenital perinuclear cataract

Authors: X.D. Kong, N. Liu, H.R. Shi, J.M. Dong, Z.H. Zhao, J. Liu,J. Li-Ling and Y.X. Yang

Congenital cataract is caused by reduced transparency of the lens resulting from metabolic disorders during the fetal period. The disease shows great heterogeneity both clinically and genetically. We identified a 4-generation ethnic Han Chinese family affected by autosomal dominant congenital perinuclear cataract. The patients underwent full clinical and .. Read More»

Genet. Mol. Res. 14(1):
2015.January.23.16
DOI:
10.4238/2015.January.23.16
Human Genetics   Research Article

Detection of fetal RHD pseudogene (RHDΨ) and hybrid RHD-CE-Ds from RHD-negative pregnant women with a free DNA fetal kit

Authors: T. Gunel, I. Kalelioglu, A. Gedikbasi, H. Ermis and K. Aydinli

Hemolytic disease of the newborn is a clinical condition in which maternal and paternal Rh blood group antigens are incompatible and the mother is negative for the antigen whereas the father is positive. Analysis of fetal cells recovered from maternal plasma can provide a highly sensitive prenatal diagnosis. The fetal RHD gene.. Read More»

Genet. Mol. Res. 10(4):
2011.October.26.1
DOI:
10.4238/2011.October.26.1
Human Genetics   Research Article

Identification of novel compound heterozygous RECQL4 mutations and prenatal diagnosis of Baller-Gerold syndrome: a case report

Authors: D.H. Cao, K. Mu, D.N. Liu, J.L. Sun, X.Z. Bai, N. Zhang, G.B. Qiu and X.W. Ma

Birth defects are structural and/or functional malformations present at birth that cause physical or mental disability and are important public health problems. Our study was aimed at genetic analysis and prenatal diagnosis of congenital anomalies to understand the cause of certain birth defects. Karyotypes and array-comparative genomic hybridization (aCG.. Read More»

Genet. Mol. Res. 14(2):
2015.May.11.8
DOI:
10.4238/2015.May.11.8
Medical Genetics   Research Article

Serum microRNA expression in pregnancies with preeclampsia

Authors: T. Gunel, Y.G. Zeybek, P. Akçakaya, I. Kalelioğlu, A. Benian, H. Ermis and K. Aydınlı

Preeclampsia continues to be a mortal disease of pregnant women throughout the world. Recently, geneticists, allied with obstetricians, have opened new frontiers. MicroRNAs (miRNAs) are members of a class of small, noncoding RNA molecules. They are critical posttranscriptional regulators of gene expression. We extracted circul.. Read More»

Genet. Mol. Res. 10(4):
2011.November.8.5
DOI:
10.4238/2011.November.8.5