Education/Academic Info | ||
---|---|---|
Undergraduate Degree | Ege University Tıp Fakültesi | 1998 |
PhD (Doctorate) | Ege University Sağlık Bilimleri Enstitüsü Çocuk Sağlığı ve Hastalıkları Anabilim Dalı Genetik Doktora Öğretim Programı | 2006 |
Assistant Professor | Dokuz Eylül University Tıp Fakültesi | 2013 |
Associate Professor | Dokuz Eylül University Üniversitelerarası Kurul Tıbbi Genetik | 2015 |
NO | NAME | YEAR |
1 | Clinical Heterogeneity in Patients with Long QT Syndrome and Segregation of Single Nucleotide Varian... | 2023 |
2 | Prenatal diagnosis of cystic hygroma cases in tertiary centre and retrospective analysis of pregnanc... | 2022 |
3 | Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the Na... | 2022 |
4 | Evaluation of Associated Structural and Chromosomal Abnormalities in Patients with Fetal Cerebral Ve... | 2022 |
5 | Evaluation of hereditary/familial breast cancer patients with multigene targeted next generation seq... | 2022 |
6 | Biallelic ZNF335 mutations cause basal ganglia abnormality with progressive cerebral/cerebellar atro... | 2021 |
7 | How Much do we Know About the Findings of 22q11.2 Deletion Syndrome: A Single-Centre Study with 11-Y... | 2020 |
8 | A novel compound heterozygous variant in CYP19A1 resulting in aromatase deficiency with normal ovari... | 2020 |
9 | A novel compound heterozygous variant in CYP19A1 resulting in aromatase deficiency with normal ovari... | 2020 |
10 | Unexpected Coexistence of a Derivative t(21,21) and Complementary mosaic r(21) in a Female with Mult... | 2019 |
11 | Phenotypic spectrum of CHARGE syndrome based on clinical characteristics... | 2018 |
12 | Two Cases with Ring Chromosome 13 at either End of the Phenotypic Spectrum... | 2018 |
13 | A newborn with monosomy X in association with corpus callosum agenesis... | 2017 |
14 | Localization of the Werner Protein Together with H2AX in ?-Irradiation-Induced Neoplastic Transforme... | 2017 |
15 | Analysis of first-trimester combined test results in preparation for a cell-free fetal DNA era... | 2016 |
16 | Identification of a novel frameshift heterozygous deletion in exon 8 of the PAX6 gene in a pedigree ... | 2016 |
17 | Anormal Sperm Motilitesine Bağlı Erkek İnfertilitesinde Mitokondriyal A3243G Mutasyonunun Rolü... | 2015 |
18 | Termination of pregnancy for fetal abnormalities: Main arguments and a desicion-tree model... | 2015 |
19 | A Novel Mutation in the Mitochondrial DNA Cytochrome b Gene (MTCYB) in a Patient with Prader Willi S... | 2015 |
20 | Glutathione S-Transferase Gene Polymorphisms in Children with Down Syndrome and Their Mothers... | 2015 |
21 | Risk factors for subclinical inflammation in children with Familial Mediterranean fever... | 2015 |
22 | Clinical Significance of R202Q alteration of MEFV gene in children with Familial Mediterranean fFeve... | 2015 |
23 | Sequencing of the CFTR gene in selected turkish patients with cystic fibrosis.... | 2014 |
24 | Assessment of sleep problems in children with familial Mediterranean fever.... | 2014 |
25 | Maternal Dengeli Translokasyon Taşıyıcılığına Bağlı Gelişen Fetal Dengesiz 47,XY,t(2;18)(p... | 2014 |
26 | 46,xx erkek sendromlu bir olgu... | 2013 |
27 | Kordomalarda Sitogenetik Ve Moleküler Genetik... | 2013 |
28 | Mutations in WNT1 cause different forms of bone fragility.... | 2013 |
29 | Periferik Nöropatiler... | 2013 |
30 | UroVysion fluorescence in situ hybridization (UroVysion FISH) assay for detection of bladder cancer ... | 2013 |
31 | Lack of Association of Childhood Partial Epilepsy with Brain Derived Neurotrophic Factor Gene... | 2012 |
32 | ADAM33 Gene Polymorphisms Are Not Associated With Asthma in Turkish Children... | 2012 |
33 | New mutations in the ATM gene and clinical data of 25 AT patients.... | 2011 |
34 | Canlılığını yitirmiş embriyolarda gözlenen anöploidi sıklığının sperm-FISH ve sperm apo... | 2011 |
35 | Interview with parents of children with Down syndrome: their perceptions and feelings.... | 2011 |
36 | Sotos sendromu; Boy uzunluğunun nadir bir sebebi... | 2011 |
37 | Heterozygous 5p13.3-13.2 deletion in a patient with type I Chiari malformation and bilateral Duane r... | 2010 |
38 | Spinal Musküler Atrofi için Prenatal Tanı... | 2010 |
39 | A novel heterozygous deletion within the 3' region of the PAX6 gene causing isolated aniridia in a l... | 2009 |
40 | Tuberoz Skleroz Hastalığının Moleküler Genetiği... | 2009 |
41 | von Hippel-Lindau Hastalığının Moleküler Genetiği... | 2009 |
42 | A new case of Martsolf syndrome.... | 2007 |
43 | [ İngilizce Özet ] [ PDF ] [ Benzer Makaleler ] İNTERFAZ HÜCRELERİNDE FLÜORESAN IN-SITU HİB... | 2006 |
44 | PRENATAL TANIDA SAPTANAN SATELLİTLİ Y KROMOZOMUNUN (Yqs) DEĞERLENDİRİLMESİ... | 2004 |
45 | Detection of trisomy 21 in a fetus during the investigation for Tay-Sachs disease.... | 2004 |
46 | Trends in cytogenetic prenatal diagnosis in a reference hospital in Izmir/Turkey: a comparative stud... | 2004 |
47 | Celiac disease in children with Down syndrome: importance of follow-up and serologic screening. ... | 2003 |
48 | Achondroplasia in Turkey is defined by recurrent G380R mutation of the FGFR3 gene... | 2003 |
49 | Trigonocephaly and Wilson's disease in two siblings. ... | 2003 |
50 | Paracentric inversion in the short arm of chromosome 1. Report of a family and review of the literat... | 2003 |
51 | New chromosome rearrangement in acute lymphoblastic leukemia. ... | 2002 |
52 | SPİNAL MUSKÜLER ATROFİ'DE MOLEKÜLER TANI: EGE BÖLGERİNDE BİR REFERANS MERKEZİNDEKİ UYGULAMA... | 2002 |
53 | Down Sendromlu Olgularda Anti-gliadin ve Anti-endomisyum Antikorları: Bir Ön Çalışma ... | 2001 |
54 | A Father Born To Consanguineous Parents Had Double Translocation 21;22 (44,XY, t(21q;22q),t(21q;22q... | 2001 |
55 | Cerebro-costo-mandibular syndrome: a case report.... | 2001 |
56 | WOLF-HIRSCHORN SENDROMU: OLGU SUNUMU... | 2001 |
57 | NEU-LAXOVA SENDROMU : OLGU SUNUMU... | 2001 |
58 | Ultrasonda Choroid Plexus Kisti Saptanan Gebelerin sitogenetik Analiz Değerlendirilmesi... | 1999 |
NO | NAME | DATE |
1 | 22q11.2 bölgesinde distal delesyon saptanan bir olgu sunumu ... | 25/09/2019 - 27/09/2019 |
2 | Prenatal Izlemde Genetiğin Tani Koyduğu En Net Örneklerden Biri Tuberoskleroz... | 25/09/2019 - 27/09/2019 |
3 | Two Novel Variants of AGL and GBE1 Genes in Glycogen Storage Disease Patients... | 17/04/2019 - 20/04/2019 |
4 | Osteogenesis imperfecta type I caused by a novel mutation of the COL1A1 gene in Turkish family... | 22/02/2019 - 23/02/2019 |
5 | A Novel Compound Heterozygous Mutation in CYP19A1 Resulting in Aromatase Deficiency with Normal Gona... | 27/09/2018 - 29/09/2018 |
6 | Normal Gonadotropin Düzeyleri ve Over Yapısı Bulunan Virilize Bir Kız Olguda Aromataz Eksikliği... | 18/04/2018 - 22/04/2018 |
7 | Delesyon 1p36'lı olguya moleküler genetik ve sitogenetik yöntemlerle yaklaşım... | 07/03/2018 - 10/03/2018 |
8 | PRADER-WİLLİ SENDROMU BENZERİ BULGULAR İLE SEYREDEN DİSTAL Xq DUPLİKASYONLU OLGU... | 11/10/2017 - 13/10/2017 |
9 | 2q37.3 Delesyonu ve 9q34.1-q34.3 Duplikasyonu Saptanan Bir Olgu... | 11/05/2017 - 13/05/2017 |
10 | array CGH'de 2q33.1-q33.3 bölgesinde mikrodelesyon saptanan olgu... | 10/03/2016 - 12/03/2016 |
11 | dismorfik yüz görünümü, gelişme geriliği ve ekzositozları olan olgu... | 22/10/2015 - 24/10/2015 |
12 | Ring kromozom 20 karyotipi saptanan bir olgu... | 06/05/2015 - 09/05/2015 |
13 | Perinatal-Letal Tip Hipofosfatazya Taşıyıcısı Bir Ailede Prenatal Tanı... | 24/09/2014 - 27/09/2014 |
14 | Risk factors for subclinical inflammation in children with familial Mediterranean fever. [Pediatri... | 17/09/2014 - 21/09/2014 |
15 | ring kromozom 13' lü iki farklı olgu... | 26/09/2013 - 27/09/2013 |
16 | Mozaik Turner Sendromlu hastaların klinik ve sitogenetik açıdan değerlendirilmesi... | 26/09/2013 - 27/09/2013 |
17 | Ailesel Akdeniz ateşi olan çocuklarda MEFV gen R202Qpolimorfizminin klinik ile ilişkisi... | 11/09/2013 - 15/09/2013 |
18 | multipl konjenital anomali ve motor mental retardasyonlu olgu... | 08/03/2013 - 09/03/2013 |
19 | kraniosinostoz'lu olgu... | 08/03/2013 - 09/03/2013 |
20 | yaygın kortikal displazili bir olgu... | 08/03/2013 - 09/03/2013 |
21 | Idiyopatik Adölesan Skolyozunda Vitamin D Reseptör Geni Bsm I Polimorfizmi... | 19/12/2012 - 23/12/2012 |
22 | Prenatal Tanıda Tespit Edilmiş Cinsiyet Kromozom Anomalileri-Olgu Sunumu... | 19/12/2012 - 23/12/2012 |
23 | FOP (fibrodisplazi ossifikans progressiva)' lı bir olgu... | 18/02/2010 - 18/02/2010 |
24 | Prenatal tanıda trizomi 15 mozaikliği olan bir olgu... | 09/10/2002 - 12/10/2002 |
25 | Martsolf Sendromu... | 09/10/2002 - |
26 | 4. Çoğulu, Ö., F.F. Özkınay, C. Gündüz, T. Çankaya, S. Aydoğdu, F. Özgenç, N. Kütükçü... | 25/09/2002 - 29/05/2002 |
27 | Trends in Cytogenetic Prenatal Diagnosis in a Reference Hospital in İzmir/Turkey: A Comparative Stu... | 25/05/2002 - 29/05/2002 |
28 | Detection of trisomy 21 in a fetus during the investigation for Tay Sachs disease, prenatal cytogene... | 25/05/2002 - 29/05/2002 |
29 | Kabuki Make-Up Syndrome in Three Turkish Patients?,... | 25/05/2002 - 29/05/2002 |
30 | Seven cases of chromosomal mosaicism detected in amniocentesis and karyotype, phenotype correlations... | 25/05/2002 - 28/05/2002 |
31 | A New Chromosome Rearrangement In Acute Lymphoblastic Leukemia... | 07/07/2001 - 10/07/2001 |
32 | Anophthalmia Waardenburg Syndrome?... | 29/05/1999 - 01/06/1999 |
NO | NAME | YEAR |
1 | Tıbbi Laboratuvar Testleri El Kitabı... | 2011 |
NO | CHAPTER TITLE | YEAR |
1 | KÖK HÜCRE VE UYGULAMALARI Tıbbi Genetik ve KLinik Uygulamaları... | 2016 |
NO | NAME | DATE |
1 | Alzheimer Hastalarında Genomik Değişimlerin Prognoza Etkileri... | 4/2014 - 4/2016 |
2 | GLP1 Reseptör Polimorfizmlerinin Obesiteye Olan Etkilerinin Araştırılması... | 1/2014 - 1/2015 |
3 | Subklinik Cushing Sendromu ve Fonksiyon Göstermeyen Adrenal Kitleli Hastalarda Kortikosteroid Bağlayan Globulin Düzeylerinin ve Glukokortikoid Reseptör Polimorfizm Sıklığının Değerlendirilmesi... | 4/2014 - 10/2015 |
NO | Responsibility | |
1 | DEÜ Rectorate Girişimsel Olmayan Araştırmalar Etik Kurulu Member, December 2020- May 2021 | |
2 | DEÜ Rectorate Girişimsel Olmayan Araştırmalar Etik Kurulu Member, November 2018- November 2020 |