Diagnosis
Detection of fetal RHD pseudogene (RHD�¨) 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
Transcriptional analysis of atrial and ventricular muscles from rats
Authors: Y. Zhi3*, Z. Cao2*, Q.H. Li1, X.L. Li1, Y. Sun1, T. Zhang1 and Q. Zhang1
Previous studies have used microarray technology to explore gene expression differences between the atrium and the ventricle. However, selection criteria for the differentially expressed genes (DEGs) based only on either the fold change or the P value in these studies. Here, we aim to further identify the DEGs by setting a P value threshold of 2, which ma.. Read More»
- Genet. Mol. Res. 15(1):
- gmr.15017330
- DOI:
- 10.4238/gmr.15017330
Utility of STR markers for the molecular diagnosis of a large Brazilian family with Charcot-Marie-Tooth disease
Authors: C.O. Possamai, F.M. Carvalho, M.F.C. Silva, E.V. Wolfgramm, M.P.N. Sartori, F.S.V. Malta, V.P. Ribeiro, V.P. Spina, K.B. Gomes, A.C.S. Ferreira and I.D. Louro
Charcot-Marie-Tooth type 1A disease (CMT1A) is most frequently caused by a tandem DNA duplication of a 1.4-Mb genomic fragment in the 17p11.2-12 chromosomal region. The disease is probably the product of a dosage effect of the peripheral myelin protein 22 gene located within the duplicated segment. We sought to study the largest reported Brazilian family .. Read More»
- Genet. Mol. Res. 7(4):
- vol7-4gmr500
- DOI:
- 10.4238/vol7-4gmr500
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
Serum microRNA expression in pregnancies with preeclampsia
Authors: T. Gunel, Y.G. Zeybek, P. Ak�§akaya, I. Kalelio��lu, A. Benian, H. Ermis and K. Ayd�±nl�±
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
Multiple displacement amplification for preimplantation genetic diagnosis of fragile X syndrome
Authors: H.-S. Lee, M.J. Kim, C.K. Lim, J.W. Cho, I.O. Song and I.S. Kang
Preimplantation genetic diagnosis (PGD) has become an assisted reproductive technique for couples that have genetic risks. Despite the many advantages provided by PGD, there are several problems, including amplification failure, allele drop-out and amplification inefficiency. We evaluated multiple displacement amplification (M.. Read More»
- Genet. Mol. Res. 10(4):
- 2011.November.17.3
- DOI:
- 10.4238/2011.November.17.3
Differential diagnosis of active hypodermal and hematopoietic necrosis virus based on gene choice and reverse transcription coupled with PCR
Authors: M.A. Teixeira, J.E.F. Cruz, P.R.N. Vieira, I.R.C. Branco, F.H.F. Costa and G. R�¡dis-Baptista
The Pacific whiteleg shrimp Litopenaeus vannamei (Penaeidae) is one of the most important cultivated species in world aquaculture. In Brazil, the northeastern states are home to the main shrimp producers. As shrimp aquaculture has expanded and intensified, diseases have progressively become one of the most serious threats to t.. Read More»
- Genet. Mol. Res. 9(4):
- vol9-4gmr917
- DOI:
- 10.4238/vol9-4gmr917
Clinical applications of internal heat source analysis for breast cancer identification
Authors: F. Han, C.W. Liang, G.L. Shi, L. Wang and K.Y. Li
Nondestructive preoperative breast imaging techniques are widely used for breast cancer testing and diagnosis. This study aimed to evaluate the feasibility and efficacy of quantitative diagnosis via the thermal analysis of abnormal metabolism. Nine hundred forty-eight women who underwent breast biopsy from 2009 to 2013 were investigated. Thermal analysis .. Read More»
- Genet. Mol. Res. 14(1):
- 2015.February.13.24
- DOI:
- 10.4238/2015.February.13.24
Investigation of the value of miR-21 in the diagnosis of early stage HCC and its prognosis: a meta-analysis
Authors: S.R. Yan, Z.J. Liu, S. Yu and Y.X. Bao
The diagnostic and prognostic value of miR-21 has been examined for hepatocellular carcinoma (HCC), with inconsistent results. Present meta-analysis summarized the diagnostic accuracy and the predictive role for survival of miR-21 in patients with HCC. All eligible studies were searched using PubMed, EMBASE, and Chinese National Knowledge Infrastructure (.. Read More»
- Genet. Mol. Res. 14(3):
- http://dx.doi.org/2015.September.28.9
- DOI:
- http://dx.doi.org/10.4238/2015.September.28.9
MicroRNAs as novel biomarkers for the differentiation of malignant versus benign thyroid lesions: a meta-analysis
Authors: G.J. Zhou, M. Xiao, L.N. Zhao, J.G. Tang and L. Zhang
The aim of this meta-analysis was to systematically evaluate the diagnostic accuracy of microRNAs (miRNAs) in distinguishing malignant thyroid lesions from benign ones and to determine the potential of miRNAs as diagnostic biomarkers for thyroid cancer. The random-effect model was used to summarize the pooled estimates of diagnostic accuracy, including se.. Read More»
- Genet. Mol. Res. 14(3):
- 2015.July.3.3
- DOI:
- 10.4238/2015.July.3.3