Case Report

Related GMR Articles

12/19/2011
Autosomal dominant; Genetics; Hoarseness; Laryngeal development; Sulcus vocalis; Videolaryngoscopy

We found evidence of autosomal dominant hereditary transmission of sulcus vocalis. Four dysphonic patients from three generations of the same family were submitted to videolaryngoscopic examination (three patients) and to direct laryngoscopy (one patient) to diagnose the hoarseness. Sulcus vocalis was diagnosed in all four patients. The finding of four affected individuals in three ... more

R.H.G. Martins; T.M. Gonçalves; D.S. Neves; T.A. Fracalossi; E.L.M. Tavares; D. Moretti-Ferreira
12/08/2011
Breast cancer; CYP2C19; Genetics; Polymorphism

Cytochrome P450 (CYP) 2C19 metabolizes arachidonic acid to biologically active epoxyeicosatrienoic acids, which significantly promote proliferation of cancer cells in vitro and in vivo. We looked for a possible association between human CYP2C19*3 gene polymorphism and breast cancer in the Chinese Han population. In a Chinese Han case-control study of breast cancer ... more

C.Q. Gan; X.Y. Wang; Y.D. Cao; W.X. Ye; H. Liu; Y.Y. Sun
12/04/2013
Genetics; Mutation; Steroid-resistant nephrotic syndrome; Wilms’ tumor suppressor gene

Mutations in the Wilms' tumor suppressor gene (WT1) can lead to syndromic forms of steroid-resistant nephrotic syndrome (SRNS) such as Denys-Drash or Frasier syndrome and can cause isolated SRNS. A mutation within WT1 is a frequent cause of sporadic isolated SRNS in girls. In a worldwide cohort of girls, the rate of occurrence was 10.8%. Previous reports have indicated ... more

Y.H. Yang; F. Zhao; D.N. Feng; J.J. Wang; C.F. Wang; J. Huang; X.J. Nie; G.Z. Xia; G.M. Chen; Z.H. Yu
09/27/2013
Biomarker; Gene polymorphism; Genetics; Non-small cell lung cancer; Survivin

Lung cancer is the most common cancer worldwide. Survivin is one of the first reported inhibitors of apoptosis proteins, which is an important family of proteins that regulate apoptosis. The survivin gene is located on human chromosome 17q25, which is composed of 142 amino acids. A common polymorphism of the survivin gene promoter -31G/C has been shown to influence cancer risk. This ... more

E. Aynaci; E. Coskunpinar; A. Eren; O. Kum; Y.M. Oltulu; N. Akkaya; A. Turna; I. Yaylim; P. Yildiz
05/14/2013
5-Lipoxygenase activating protein; Cerebral infarction; Cyclooxygenase; Genetics; Polymorphism

We made a case-control study to investigate a possible association between ALOX5AP-SG13S114A/T, COX-2-765G/C, and COX-1-50C/T polymorphisms with cerebral infarction in a Chinese population. A total of 411 cases with cerebral infarction were included; 411 controls matched for age, gender, and risk factors were also selected. The ... more

X.Y. Yi; Q. Zhou; J. Lin; L.F. Chi; W.Z. Chi
05/07/2012
DNA sequencing; Familial Mediterranean fever; Genetics; MEFV gene; Mutation

Familial Mediterranean fever is a recessive autoinflammatory disease that is frequent in Armenians, Jews, Arabs, and Turks. The MEFV gene is responsible for this disease. We looked for MEFV gene variations (polymorphism and mutations) in a population that resides in Central Anatolia, Turkey. DNA was extracted from peripheral blood leukocytes of 802 familial Mediterranean ... more

G.G. Ceylan; C. Ceylan; E. Ozturk
06/26/2015
Gene; Genetics; Non-small cell lung cancer; Radiation effects; Radiation tolerance

The aim of this study was to examine the relationship between genetic polymorphisms in DNA ligase 1 (LIG1) and non-small cell lung cancer (NSCLC) susceptibility and radiosensitivity in a Chinese population. This was a case-control study that included 352 NSCLC patients and 448 healthy controls. Polymerase chain reaction-restriction fragment length polymorphism analysis was conducted to ... more

H. Tian; X. He; L. Yin; W.J. Guo; Y.Y. Xia; Z.X. Jiang
04/12/2013
Ataxin 2; Autosomal dominant; Prenatal diagnosis; Quantitative PCR; Spinocerebellar ataxia type 2

We developed a new application of comparative multiplex dosage analysis (CMDA) for evaluation of the ataxin 2 gene. Expansions of the triplet CAG can cause spinocerebellar ataxia type 2 (SCA2), a neurodegenerative disease with an autosomal-dominant mode of inheritance. Molecular diagnosis of SCA2 is routinely based on the use of conventional PCR to detect the CAG expansion. However, PCR ... more

F. Calì; V. Chiavetta; A. Ragalmuto; M. Vinci; G. Ruggeri; P. Schinocca; V. Romano
11/29/2011
Congenital heart disease; Genetics; Transcription factor

Congenital heart disease (CHD) is the most common birth defect and is the leading cause of infant morbidity and mortality resulting from birth defects. Increasing evidence demonstrates that genetic variation in the NKX2-5 gene, which encodes a homeobox-containing transcription factor crucial to cardiogenesis, is an important molecular determinant for CHD. Nevertheless, the ... more

J. Wang; X.Y. Liu; Y.Q. Yang
03/23/2010
Anatomy; Cassava hybridization; Embryology; Genetics

A molecular, anatomical and cytogenetic study of an interspecific hybrid between Manihot esculenta (cassava) and the wild species M. oligantha was carried out. Cytogenetics revealed relatively complete chromosome pairing and high viability of the pollen grains. Ovule structure examined by the clearing method showed polyembryony in 2.7% of the ovules. Doubling of the ... more

N.M.A. Nassar; D.Y. Hashimoto; D.G. Ribeiro

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