Diagnosis
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
Comparison of three methods for diagnosis of Trypanosoma (Duttonella) vivax in cattle.
Authors: William Pereira Alves, Diana Abr�£o Cuglovici, Luis Fernando Viana Furtado,Julia Ang�©lica Gon�§alves da Silveira, Elias Jorge Facury-Filho,M�ºcio Fl�¡vio Barbosa Ribeiro and ��lida Mara Leite Rabelo
Detection of Trypanosoma vivax in cattle is based on parasitological, serological and molecular methods. The aim of this study was to compare three different methods for detecting T. vivax during an outbreak of trypanosomiasis in southeast Brazil. Blood samples were collected from seventy-two animals to perform micro-hematocri.. Read More»
- Genet. Mol. Res. 16(4):
- gmr16039811
- DOI:
- 10.4238/gmr16039811
Three-dimensional digital visible heart model and myocardial pathological characteristics of fetal single ventricle connected with aortic coarctation
Authors: B. Ren1*, Y. Jiang1*, H.M. Xia1, X.Y. Li1, L.W. Tan2, Y. Li2, Q.Y. Li2,X.S. Li2 and Y.H. Gao1
This study aimed to provide data for imaging diagnosis and clinical surgical plans by reconstructing a three-dimensional (3-D) digital visible heart model of single ventricle (SV) connection with aortic coarctation (CoA) and characterizing the myocardial and vascular wall pathological characteristics. Fifteen miscarried fetus cadavers with SV and CoA were.. Read More»
- Genet. Mol. Res. 13(4):
- 2013.October.30.9
- DOI:
- 10.4238/2013.October.30.9
Clinical value of surfactant protein-A in serum and sputum for pulmonary tuberculosis diagnosis
Authors: H. Hu, G.L. Teng, L.Z. Gai, Y. Yang and C.J. Zhu
The aim of this study was to explore the diagnostic and differential diagnosis value of surfactant protein-A (SP-A) in the serum and sputum for pulmonary tuberculosis. A total of 101 patients with pulmonary tuberculosis, 85 healthy volunteers, and 30 chronic obstructive pulmonary disease (COPD) patients were divided into pulmonary tuberculosis group, heal.. Read More»
- Genet. Mol. Res. 12(4):
- 2013.October.24.2
- DOI:
- 10.4238/2013.October.24.2
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
Spectrum of mutations in the familial Mediterranean fever gene (MEFV) in Turkish patients of the Central Anatolia region: a comparison of two mutation detection system
Authors: A.G. Zamani, A. Acar and M.S. Yildirim
The purpose of this study was to determine the spectrum of the most common mutations in the familial Mediterranean fever gene (MEFV) in Turkish patients from the Central Anatolia region, by using two different methods for detecting FMF-associated mutations with different screening panels, and compare our results with other diagnostic molecular genetics ce.. Read More»
- Genet. Mol. Res. 12(4):
- 2013.October.29.9
- DOI:
- 10.4238/2013.October.29.9
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
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
Investigation of clinical diagnosis and liver biopsy diagnosis in cases of patients with chronic HBV infection
Authors: W.-Q. Shi, W. Ni and Y.-L. Yang
The aim of this study was to investigate the pathomorphological changes of chronic hepatitis B virus (HBV) infection and the coincidence between clinical and pathological diagnosis. Hematoxylin and eosin staining and immunohistochemistry for HBsAg and HBcAg were performed on 97 liver biopsy specimens collected from 97 patients.. Read More»
- Genet. Mol. Res. 13(2):
- 2014.February.13.16
- DOI:
- 10.4238/2014.February.13.16
Selection of peptides for serological detection of equine infectious anemia
Authors: E.M. Santos, R. Cardoso, G.R.L. Souza, L.R. Goulart, M.B. Heinemann, R.C. Leite and J.K.P. Reis
Equine infectious anemia caused by equine infectious anemia virus is an important disease due to its high severity and incidence in animals. We used a phage display library to isolate peptides that can be considered potential markers for equine infectious anemia diagnosis. We selected peptides using IgG purified from a pool comprised of 20 sera from anima.. Read More»
- Genet. Mol. Res. 11(3):
- 2012.May.24.2
- DOI:
- 10.4238/2012.May.24.2