Search Results - "Imirzalioǧlu, Necat"
-
1
A 10.46Mb 12p11.1-12.1 interstitial deletion coincident with a 0.19Mb NRXN1 deletion detected by array CGH in a girl with scoliosis and autism
Published in American journal of medical genetics. Part A (01-07-2011)“…We present a 12-year-old girl with de novo karyotype 46,XX,del(12)(p11.1p12.1). Array CGH revealed in addition to a 10.466Mb interstitial deletion on…”
Get full text
Journal Article -
2
Human Papilloma Viruses and Their Genotype Distribution in Women with High Socioeconomic Status in Central Anatolia, Turkey: A Pilot Study
Published in Medical science monitor (04-01-2018)“…BACKGROUND In the present study we retrospectively evaluated the results of outpatients who had an HPV analysis, and present objective evidence for the…”
Get full text
Journal Article -
3
KLOTHO and VDR Gene Polymorphisms and Clinical Phenotype in Chronic Kidney Disease Patients
Published in Gazi tıp dergisi (01-01-2019)“…Objective: With an increasing incidence and prevalence, Chronic Kidney Disease (CKD), is a bad prognosed and high cost common public health problem. KLOTHO…”
Get full text
Journal Article -
4
Age-related macular degeneration and association of CFH Y402H and LOC387715 A69S polymorphisms in a Turkish population
Published in DNA and cell biology (01-03-2012)“…Age-related macular degeneration (AMD) is a disease with multifactorial etiology characterized by irreversible loss of central visual acuity. The discovery of…”
Get more information
Journal Article -
5
A 10.46 Mb 12p11.1–12.1 interstitial deletion coincident with a 0.19 Mb NRXN1 deletion detected by array CGH in a girl with scoliosis and autism
Published in American journal of medical genetics. Part A (01-07-2011)“…We present a 12‐year‐old girl with de novo karyotype 46,XX,del(12)(p11.1p12.1). Array CGH revealed in addition to a 10.466 Mb interstitial deletion on…”
Get full text
Journal Article -
6
Modulator effects of the methylenetetrahydrofolate reductase C677T polymorphism on response to vitamin B12 therapy and homocysteine metabolism
Published in DNA and cell biology (01-05-2012)“…In this study, our aim was to investigate the association of methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism on the vitamin B12 therapy response…”
Get more information
Journal Article -
7
Characterization of double ring chromosome 4 mosaicism associated with bilateral hip dislocation, cortical dysgenesis, and epilepsy
Published in American journal of medical genetics. Part A (01-12-2009)“…We present the clinical and molecular findings in a Turkish child with a de novo mosaic ring derived from chromosome 4 with multiple cell‐lines; the karyotype…”
Get full text
Journal Article -
8
A Case with Mosaic Ring Chromosome 18
Published in Gazi tıp dergisi (01-01-2013)“…The classical mode of ring chromosome formation is by break forming in both arms of the affected chromosome, fusion of the breaking points and loss of the…”
Get full text
Journal Article -
9
Surgery for acute abdomen and MEFV mutations in patients with FMF
Published in Acta reumatológica portuguesa (01-07-2009)“…Familial Mediterranean Fever (FMF) is an autosomal recessive disease characterized by recurrent fever, peritonitis, arthritis, pleuritis, and secondary…”
Get full text
Journal Article -
10
New heritable fragile site at 15q13 in both members of a nonconsanguineous couple
Published in American journal of medical genetics. Part A (30-04-2003)“…The detection of a fragile site in a patient often causes concerns due to its potential significance and the necessity to be followed‐up properly with genetic…”
Get full text
Journal Article -
11
Investigating the in vitro effect of taurine on the infant lymphocytes by sister chromatid exchange
Published in Pediatrics international (01-06-2006)“…Background: Taurine (2‐aminoethane sulphonic acid) is normally present in most mammalian tissues and the most abundant free amino acid in lymphocytes. It…”
Get full text
Journal Article -
12
Fetal chromosomal analysis of pregnancies following intracytoplasmic sperm injection with amniotic tissue culture
Published in Prenatal diagnosis (01-10-2003)“…Objectives The objective of this study was to determine the incidence of chromosomal anomalies in a complete cohort of ICSI pregnancies. Methods From January…”
Get full text
Journal Article -
13
Complete atrioventricular block in becker muscular dystrophy: A case report
Published in Türk Kardiyoloji Derneği arşivi (01-02-2003)“…Becker Musküler Distrofi'de; dilate kardiyomiyopati, hafif-orta derecede mitral yetersizliği, kardiyak ritim ve ileti bozukluklarını içeren kardiyak tutulum,…”
Get full text
Journal Article -
14
Thrombophilia and Recurrent Pregnancy Loss: The Enigma Continues
Published in Medical science monitor (22-06-2018)“…BACKGROUND Thrombophilic gene polymorphism is known to be a risk factor for recurrent pregnancy loss (RPL), but few studies have confirmed a possible role of…”
Get full text
Journal Article -
15
The effects of folic acid application on IL-1β levels of human gingival fibroblasts stimulated by phenytoin and TNFα in vitro : a preliminary study
Published in Journal of Oral Science (01-12-2001)“…Folic acid (FA), that is required for the integrity of gingival tissues, was found to decrease in patients using phenytoin (PHT). Interleukin-1 beta (IL-1β)…”
Get full text
Journal Article -
16
Cinsel farklılaşma bozukluğu olan olgularda genetik yaklaşım
Published in Gülhane tıp dergisi (2009)“…Cinsel farklılaşma bozukluğu, fenotip-genotip uyumsuzluğu ile karakterize bir tablo olup, olguların çoğunda steroid biyosentez yolağında problem vardır. Bu…”
Get full text
Journal Article -
17
The effects of folic acid application on IL-1beta levels of human gingival fibroblasts stimulated by phenytoin and TNFalpha in vitro: a preliminary study
Published in Journal of oral science (2001)“…Folic acid (FA), that is required for the integrity of gingival tissues, was found to decrease in patients using phenytoin (PHT). Interleukin-1 beta (IL-1beta)…”
Get full text
Journal Article -
18
Variable clinical expression of Holt-Oram syndrome in three generations
Published in Turkish journal of pediatrics (01-10-1998)“…Holt-Oram syndrome is a distinct autosomal dominant entity presenting with upper limb defects and cardiac abnormality. No correlation between the severity of…”
Get more information
Journal Article -
19
An investigation of the effects of FGFR2 and B7-H4 polymorphisms in breast cancer
Published in Journal of cancer research and therapeutics (01-07-2013)“…Introduction: Polymorphisms in FGFR2 are important markers for breast cancer susceptibility in the general population. CHEK2 and FGFR2 polymorphisms with known…”
Get full text
Journal Article -
20
Van der Woude sendromlu olgularımızın soyağacında genetik penetransın analizi: Beş olgu sunumu
Published in Kulak burun boğaz ihtisas dergisi (2010)“…Van der Woude sendromu labial kistler, aksesuvar tükürük bezleri, alt dudakta çukurluk, fistül ve paramedyan sinüslerle karakterize, sıklıkla yarık dudak ve…”
Get full text
Journal Article