A5058800642- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Genetics and Neurodevelopmental Disorders
- Sexual Differentiation and Disorders
- Genetic Syndromes and Imprinting
- Parathyroid Disorders and Treatments
- Congenital heart defects research
- Electromagnetic Fields and Biological Effects
- Chromosomal and Genetic Variations
- Connective tissue disorders research
- Reproductive Biology and Fertility
- Congenital Anomalies and Fetal Surgery
- Malaria Research and Control
- Sperm and Testicular Function
- Demographic Trends and Gender Preferences
- Congenital limb and hand anomalies
- Dermatoglyphics and Human Traits
- Genomics and Rare Diseases
- Birth, Development, and Health
- Cancer Genomics and Diagnostics
- Bone health and treatments
- Animal Genetics and Reproduction
- Carcinogens and Genotoxicity Assessment
- Hearing, Cochlea, Tinnitus, Genetics
Cukurova University
2014-2023
Pediatrics and Genetics
2016
Gaziosmanpaşa Taksim Eğitim ve Araştırma Hastanesi
2015
Istanbul University
2015
Istanbul Bilim University
2015
Scientific and Technological Research Council of Turkey
2008
We present a patient with acromesomelic chondrodysplasia and genital anomalies caused by novel homozygous mutation in <i>BMPR1B</i>, the gene coding for bone morphogenetic protein receptor 1B. The 16 year old girl, offspring of multiconsanguinous family, showed severe form limb malformation consisting aplasia fibula, brachydactyly, ulnar deviation hands, fusion carpal/tarsal bones. In addition, she presented hypoplasia uterus ovarian dysfunction resulting hypergonadotrophic hypogonadism....
The objective of this study was to evaluate the relationship between humoral and cell-mediated immune response parameters impairment functions in children with Down syndrome (DS). patient group consisted cytogenetically documented 32 DS. Lymphocyte subsets natural killer cells were counted by flow-cytometry system. Levels interleukin (IL)-1beta, IL-2, IL-4, IL-6, IL-8, IL-10 tumour necrosis factor-alpha (TNF-alpha) detected enzyme-linked immunosorbent assay method. Serum IgG, IgM, IgA levels...
Recent studies have suggested a direct contribution of nicotine--the addictive component tobacco and smoke--to human carcinogenesis, it remains the most common harmful substance to which pregnant women are exposed. Also, has deleterious effects on fetus. The sperm smoking fathers newborns mothers elevated frequencies chromosome translocations DNA strand breaks.We tried understand genotoxic effect nicotine in pregnancies active or passive mothers. For this reason, we provide evidence that...
In this study, we aimed to determine genetic susceptibility of children group who are under follow up at outpatient and inpatient clinics or newly diagnosed pediatric tuberculosis according healthy control group. Patient consists 50 cases aged between 0-18 years 1996-2009 in Cukurova University, Faculty Medicine, Department Pediatrics the have neither chronic nor acute diseases no history contact. Analysis NRAMP1 (D543N, 3'-UTR INT4 loci) MBL (codon 54 57) gene polymorphisms carried out...
Abstract Objective: Mutations in the genes for connexin 26 ( GJB2 ) and 30 GJB6 play an important role autosomal recessive, non-syndromic hearing loss. This study aimed to detect 35delG 167delT mutations of gene del(GJB6-D13S1830) mutation paediatric patients diagnosed with congenital, loss treated cochlear implantation Mediterranean Turkey. Materials method: We included 94 children implantation. Blood samples were collected, DNA extracted enzyme-linked immunosorbent assay performed enable...
Aim: Alcoholism is a significant public health problem that also associated with complex genetic trait. Fragile sites (FS) are potentially informative endpoints for the study of clinical disorders. We aimed to find chromosomal damages in chronic alcohol users purpose finding correlation between and anomalies. Methods: The potential roles/effects ethanol on chromosome(s) were assessed this by investigating its cytotoxic effects lymphocyte cultures from alcoholics controls. Results: Alcoholics...
Abstract Pentasomy X is an extremely rare sex chromosome abnormality, a condition that only affects females, in which three more chromosomes are added to the normally present two females. We investigated novel clinical findings 1-year-old female baby with pentasomy X, and determined parental origins of chromosomes. Our case had thenar atrophy, postnatal growth deficiency, developmental delay, mongoloid slant, microcephaly, ear anomalies, micrognathia congenital heart disease. A conventional...