A5029536926- Genomic variations and chromosomal abnormalities
- Chronic Myeloid Leukemia Treatments
- Acute Myeloid Leukemia Research
- Prenatal Screening and Diagnostics
- Chromosomal and Genetic Variations
- Chronic Lymphocytic Leukemia Research
- RNA modifications and cancer
- Hemoglobinopathies and Related Disorders
- Genetic and Kidney Cyst Diseases
- Polyomavirus and related diseases
- Congenital heart defects research
- DNA Repair Mechanisms
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- PI3K/AKT/mTOR signaling in cancer
- Genetic Syndromes and Imprinting
- Acute Lymphoblastic Leukemia research
- Cancer Genomics and Diagnostics
- Eosinophilic Disorders and Syndromes
- Porphyrin Metabolism and Disorders
- Reproductive Biology and Fertility
- Congenital Ear and Nasal Anomalies
- Synthesis of Tetrazole Derivatives
- Animal Genetics and Reproduction
- Autoimmune Neurological Disorders and Treatments
- Hematopoietic Stem Cell Transplantation
Istanbul University-Cerrahpaşa
2009-2024
Istanbul University
2002-2021
Bezmiâlem Vakıf Üniversitesi
2021
Abstract We examined SCC development of 24 FA patients, who received HSCT from HLA‐matched relatives. In our BMT center, we applied low‐dose CY + LFI ATG (n:13) as conditioning regimen for patients between 1992 and 1999, BU (n:11) 1999 2002. The aim this study was to investigate after examine features the follow‐up patients. 10‐year overall survival (OS) group with 43%, whereas without 60%. There a statistically significant relationship infections (viral/bacterial) (Fisher's Exact test P...
ABSTRACT We report a 17‐year‐old male patient with erythromelanosis follicularis faciei et colli (EFFC), oral leucokeratosis and diabetes mellitus without islet cell antibody. His sister also had minimal findings of EFFC follicular papules on her shoulders extensor surfaces the arms. The father only fine papules, but no erythromelanosis. Skin mucous membrane lesions proband were investigated histopathologically. Interestingly, in peripheral lymphocyte cultures family members, chromosomal...
A Pit-bull and a Beagle, both one-year-old, with complaints of an enlarged clitoris were clinically suspected for hermaphroditism. The clitoris, the uteri gonads removed surgically from each animal submitted to our department histopathological evaluation. Tissue samples fixed 10% buffered formalin solution processed routinely, after which paraffin sections obtained stained H&E. blood sample was taken Beagle dog peripheral lymphocyte culture prepared. While confirmed histopathologically,...
A 1-year-old female child with multiple dysmorphic features including microcephaly, hypertelorism, a short philtrum, low set ears, narrow high arched palate, micrognathia and growth retardation was found to have de novo chromosome abnormality partial duplication of the arm 2 deletion long 17. The clinical case shared many similarities previous reports trisomy 2p. Three years later, ecchymotic spots appeared around left ocular region. Further pathological examination confirmed diagnosis...
Objective: The Philadelphia (Ph) chromosome, consisting of the t(9;22)(q34;q11) translocation, is observed in ~90% patients with chronic myeloid leukemia (CML).Variant Ph translocations are 5%-10% CML patients.In variant 3 and possibly more chromosomes involved.Herein we report 6 translocations.Materials Methods: Bone marrow samples were examined using conventional cytogenetic meth ods.Fluorescence situ hybridization (FISH) whole-chromosome paints BCR-ABL 1D probes used to confirm and/or...
Chronic myeloid leukaemia (CML) is a clonal haematological disease characterised by t(9;22)(q34;q11) which called Philadelphia (Ph) chromosome. Highly improved and cytogenetic results were obtained in chronic phase CML with the introduction of imatinib. Occurrence additional abnormalities Ph(+) cells defined as evolution (CE) considered to be preceding sign for acceleration. The most common chromosomal changes are +8, +Ph, i(17q), +19, -Y, +21, +17 and-7. aims this study delineate occurrence...
We report a male patient with the clinical characteristics of an OFDS (oral facial digital syndrome). He also has penile agenesis, clavicular flattening and cerebellar anomalies. This was classified as severe form OFD type II-Mohr syndrome but possibility this being VI-Varadi or new cannot completely be excluded.
Objective: Recurrent pregnancy loss is an important problem affecting couples trying to conceive. Genetic factors, particularly chromosomal abnormalities appear be highly associated with reproductive loss. The frequency of presence at least one partner, who a carrier structural chromosome rearrangement, varies from 3% 11% among history recurrent aim this study was introduce the cytogenetic data that referred our center. Material and Methods: Chromosome analyses were performed in 449 more...
Alterations of PTEN gene analyzed in bronchial lavage samples expression phosphatase and tensin homologous (PTEN
Objective: Myelodysplastic syndromes (MDS) are a heterogeneous group of malignant clonal hematopoietic stem cell disorders characterized by bone marrow failure, ineffective hematopoiesis, peripheral blood cytopenias, atypic cytological profile, increased apoptosis, and likelihood evolution to acute myeloid leukemia (AML). Cytogenetic findings major determinants in the diagnosis, classification, pathogenesis, prognosis, treatment patients with MDS. analysis is mandatory step full evaluation...
OBJECTIVES: Multiple genetic changes are observed in malignant tumors but rare or absent benign conditions.Aneuploidy is the most common feature of solid including lung cancer and diagnosis possible through detection aneuploidy.The aim this study was to investigate chromosomal abnormalities cells from non-small cell patients obtained bronchoscopically evaluate suitability fluorescence situ hybridization (FISH). MATERIAL AND METHODS:Bronchial lavage samples 17 (NSCLC) were evaluated with...
Cytogenetic findings are important prognostic factors in acute myeloid leukemia. Large systematic data about chromosomal characteristics of Turkish AML patients have not been reported to date.The karyotypic profiles 157 adult were evaluated retrospectively and compared with other reports from different populations.Cytogenetics analyses performed on bone marrow samples using G-banding. Patients categorized according their cytogenetic results into four groups the addition a normal karyotyped...