Browsing by Author "Kara N."
Now showing items 1-20 of 21
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-1438 G/A 5-HT2A receptor gene polymorphisms in patients with schizophrenia
Özgür Güneş S.; Böke Ö.; Kara N.; Şahin A.R.; Bağci H.; Başar Y. (2006)Objective: Serotonin (5-HT) plays a key role in central nervous system. Serotonergic dysfunction may be involved in the pathogenesis of schizophrenia. 5-HT2A receptor gene maps to 13q14-21. This study aimed to investigate ... -
A case of hypogonadism with a translocation: t (4; 12) (q25; q24.2)
Elbistan M.; Aydin M.; Bagci H.; Kara N. (Springer India, 1994)[No abstract available] -
A case with de novo x;autosome translocation [De Novo X;Otozom Translokasyonlu Bi?r Olgu]
Tekcan A.; Karakuş N.; Tural S.; ElbIstan M.; Kara N.; Güven D. (2012)Introduction: In this study, we evaluated the relationships between phenotypic anomalies and the t(X;6)(q25;ql6) balanced reciprocal translocation in a women case who referred to our laboratory due to having complaints of ... -
A case with Down syndrome presenting 21q22q translocation: Differential diagnosis [21q22q translokasyonu saptanan bir Down sendromu olgusu]
Robertsonian translocations (ROBs) are the most common chromosomal rearrangemets. ROBs are whole-arm rearrangements between the acrocentric chromosomes chromosomes 13, 14, 15, 21, and 22. ROBs can be classified into 2 ... -
A case with ins(22;?)(pter?q11.2
Elbistan M.; Tekcan A.; Kara N.; Koçak I. (2012)In this study a woman that carried a familial ins (22;?) chromosome, applying to our laboratory with the aim of cytogenetic analysis after having two miscarriages and her mother who is also carrier of the same entity were ... -
Chromosomal abnormalities in cases with congenital malformations
In this study we have investigated the chromosomal constitution of patients with congenital malformations in order to determine chromosomal anomaly frequencies. The conventional GTG banding patterns were routinely employed ... -
Chromosomal abnormalities in couples with recurrent pregnancyloss
Recurrent miscarriages affect approximately 5% of couples trying to establish a family. In this study we have investigated the chromosomal constitution of couples of with recurrent pregnancy losses in order to determine ... -
Comparison of the Myobacterium tuberculosis with the conventional methods
Polymerase chain reaction (PCR), due to its faster response than culture was used for the diagnosis of Mycobacterium tuberculosis. Amplification reactions were performed using primers that amplify a 123 bp fragment of ... -
Cytogenetic analysis results of abortus materials
Approximately 15-20% of all clinically recognized pregnancies are spontaneously aborted at different weeks. Rates of abnormal karyotypes were 50-60% in abortus material. In this retrospective study, we have investigated ... -
The effect of familial balanced reciprocal tranlocation t(9;11)(p12;p11.2) to reproductive performance
Ökten G.; Kara N.; Tural S.; Güven D.; Karakuş N. (2012)Aim: In this study, we report a couple who had been infertility problem for eight years and they had four failed IUI and one failed IVF. In second IVF attempt the women got pregnant and it resulted with abortion in eight ... -
Genetics of osteoporosis
Osteoporosis is a multifactorial disease characterized by a decrease bone mineral density (BMD) and micro-architectural deterioration of bone structure. Although there are several environmental influences on BMD, a genetic ... -
Lack of evidence for association between endothelial nitric oxide synthase gene polymorphisms (T-786C AND G894T) and early-onset coronary artery disease
Kara N.; Yesildag O.; Yigit S.; Yuksel S.; Bagci H.; Bek Y. (Asian Network for Scientific Information, 2007)In this study, we investigated the association of two genetic variants of the endothelial nitric oxide synthase (eNOS), T786C and G894T, with CAD. Polymerase chain reaction and restriction fragment length polymorphism ... -
Premature ovarian failure and 46,X,del(X)(q21)
Premature ovarian failure (POF) is a common cause of infertility in women, and is characterised by amenorrhoea, hypo-oestrogenism and elevated gonadotrophin levels in women under the age of 40. Genetic, autoimmune and the ... -
Recurrent abortions and postnatal loses in two cases including G-negative band within chromosome 1qh region
Kara N.; Ökten G.; Tural S.; Karakuş N.; Koçak I. (2011)Morphological variations due to heterochromatic DNA of the secondary constriction region (qh) of human chromosome 1 are considered normal. The presence of a G-negative band within the qh region of chromosome 1 has been ... -
Recurrent miscarriages and balanced translocation t(4;9)(q21;q13)
The structural chromosomal rearrangements are common in general population. Even balanced translocation carriers could have risk for having children with unbalanced chromosomes, they are phenotypically normal. Therefore, ... -
Results of amniocentesis cytogenetic analysis between 2000 and 2005 years at Samsun and around
Kara N.; Ökten G.; Güneş S.Ö.; Koçak I.; Yiğit S.; Tural Ş.; Pinarli F.A. (2005)In this study, we aimed to present of the results cytogenetic analysis and amniocentesis indications between the years 2000 and 2005 at Samsun and around. In this study 530 pregnancies were investigated. Each patient had ... -
Screening of the fragile X syndromes with DNA and cytogenetic analysis in populations with learning difficulties and mental retardation
Fragile X syndrome is the most common inherited cause of mental retardation. The disorder is associated with a cytogenetically visible fragile site (FRAXA) at Xq27.3, caused by amplification of a (CGG)n repeat sequence ... -
Triploidy syndrome with 69,XXX karyotype: Case report [69,XXX karyotipli triplodi sendromu]
Triploidy is a chromosomal abnormality characterized by the presence of an additional haploid set of chromosomes. Triploidy is estimated to occur in 3% of conceptions. Most triploids are aborted spontaneously in the first ...
