Publications by authors named "Ozgur Cogulu"

92Publications

The effects of IGF-1 and erythropoietin on apoptosis and telomerase activity in necrotizing enterocolitis model.

Pediatr Res 2020 Oct 23. Epub 2020 Oct 23.

Division of Neonatology, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey.

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http://dx.doi.org/10.1038/s41390-020-01195-7DOI Listing
October 2020

Human immune disorder associated with homozygous hypomorphic mutation affecting MALT1B splice variant.

J Allergy Clin Immunol 2020 Aug 25. Epub 2020 Aug 25.

Research Unit Cellular Signal Integration, Helmholtz Zentrum München-German Research Center for Environmental Health, Neuherberg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2020.07.034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7445549PMC
August 2020

Detection of Gene Variations in Patients Who Had Skeletal Abnormalities With/Without Short Stature.

J Clin Res Pediatr Endocrinol 2020 Apr 16. Epub 2020 Apr 16.

Department of Pediatric Genetics, Faculty of Medicine, Ege University, Izmir, Turkey.

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http://dx.doi.org/10.4274/jcrpe.galenos.2020.2020.0001DOI Listing
April 2020

Clinical and molecular aspects of PTEN mutations in 10 pediatric patients.

Ann Hum Genet 2020 07 12;84(4):324-330. Epub 2020 Mar 12.

Subdivision of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey.

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http://dx.doi.org/10.1111/ahg.12380DOI Listing
July 2020

Evaluation of lower urinary tract symptoms in children with Down syndrome: A prospective, case-controlled cohort study.

Neurourol Urodyn 2020 02 23;39(2):833-840. Epub 2020 Jan 23.

Department of Medical Genetics, Ege University Hospital, Izmir, Turkey.

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http://dx.doi.org/10.1002/nau.24293DOI Listing
February 2020

Determination of Lymphocyte Cytokinesis-Block Micronucleus Values in Apparently Healthy Children by means of Age and Sex.

Biomed Res Int 2019 25;2019:8729561. Epub 2019 Dec 25.

Department of Medical Genetics, Ege University, Faculty of Medicine, Izmir, Turkey.

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http://dx.doi.org/10.1155/2019/8729561DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6944958PMC
July 2020

Co-occurrences of polymorphic heterochromatin regions of chromosomes and effect on reproductive failure.

Reprod Biol 2020 Mar 30;20(1):42-47. Epub 2019 Dec 30.

Ege University, Faculty of Medicine, Department of Medical Genetics, Izmir, Turkey.

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http://dx.doi.org/10.1016/j.repbio.2019.12.006DOI Listing
March 2020

Clinical utility of a targeted next generation sequencing panel in severe and pediatric onset Mendelian diseases.

Eur J Med Genet 2019 Oct 15;62(10):103725. Epub 2019 Jul 15.

Subdivision of Pediatric Genetics, Department of Pediatrics, Ege University, Izmir, Turkey; Department of Medical Genetics, Ege University, Izmir, Turkey.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212193023
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http://dx.doi.org/10.1016/j.ejmg.2019.103725DOI Listing
October 2019

Genetic factors associated with the predisposition to late onset Alzheimer's disease.

Gene 2019 Jul 15;707:212-215. Epub 2019 May 15.

Ege University Medical Faculty Department of Medical Genetics, Izmir, Turkey.

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http://dx.doi.org/10.1016/j.gene.2019.05.030DOI Listing
July 2019

A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia

J Clin Res Pediatr Endocrinol 2020 03 15;12(1):113-116. Epub 2019 May 15.

Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, İzmir, Turkey

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http://dx.doi.org/10.4274/jcrpe.galenos.2019.2019.0023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7127889PMC
March 2020

Aromatase Deficiency in Two Siblings with 46,XX Karyotype Raised as Different Genders: A Novel Mutation (p.R115X) in the Gene

J Clin Res Pediatr Endocrinol 2020 03 10;12(1):109-112. Epub 2019 Apr 10.

Ege University Faculty of Medicine, Department of Pediatric Endocrinology, İzmir, Turkey

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http://dx.doi.org/10.4274/jcrpe.galenos.2019.2018.0198DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7127884PMC
March 2020

Correction to: Evaluation of the effects of miRNAs in familial Mediterranean fever.

Clin Rheumatol 2019 03;38(3):645

Faculty of Medicine, Department of Medical Genetics, Ege University, Izmir, Turkey.

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http://dx.doi.org/10.1007/s10067-018-04409-wDOI Listing
March 2019

Chronic granulamatous disease: Two decades of experience from a paediatric immunology unit in a country with high rate of consangineous marriages.

Scand J Immunol 2019 Feb 23;89(2):e12737. Epub 2019 Jan 23.

Department of Pediatric Immunology, Ege University Faculty of Medicine, Izmir, Turkey.

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http://dx.doi.org/10.1111/sji.12737DOI Listing
February 2019

Biallelic TOR1A mutations cause severe arthrogryposis: A case requiring reverse phenotyping.

Eur J Med Genet 2019 Sep 21;62(9):103544. Epub 2018 Sep 21.

Subdivision of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey; Department of Medical Genetics, Faculty of Medicine, Ege University, Izmir, Turkey.

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http://dx.doi.org/10.1016/j.ejmg.2018.09.011DOI Listing
September 2019

Immunodeficiency in a Child with Alström Syndrome.

Indian J Pediatr 2018 10 28;85(10):924-926. Epub 2018 Aug 28.

Ege University Faculty of Medicine, Department of Pediatrics, Izmir, Turkey.

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http://dx.doi.org/10.1007/s12098-018-2740-yDOI Listing
October 2018

Clinical and genetic features of L1 syndrome patients: Definition of two novel mutations.

Clin Neurol Neurosurg 2018 09 18;172:20-23. Epub 2018 Jun 18.

Subdivision of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey; Department of Medical Genetics, Faculty of Medicine, Ege University, Izmir, Turkey. Electronic address:

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http://dx.doi.org/10.1016/j.clineuro.2018.06.007DOI Listing
September 2018

Evaluation of the effects of miRNAs in familial Mediterranean fever.

Clin Rheumatol 2019 Mar 13;38(3):635-643. Epub 2018 Feb 13.

Faculty of Medicine, Department of Medical Genetic, Ege University, Izmir, Turkey.

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http://dx.doi.org/10.1007/s10067-017-3914-0DOI Listing
March 2019

Laboratory Genetic Testing in Clinical Practice 2016.

Biomed Res Int 2017 4;2017:5798714. Epub 2017 Jan 4.

Department of Medical Genetics, Faculty of Medicine, Ege University, 35100 Izmir, Turkey.

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http://dx.doi.org/10.1155/2017/5798714DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5241493PMC
February 2017

Evaluation of the miRNA profiling and effectiveness of the propolis on B-cell acute lymphoblastic leukemia cell line.

Biomed Pharmacother 2016 Dec 27;84:1266-1273. Epub 2016 Oct 27.

Ege University, Faculty of Medicine, Department of Medical Genetics, Izmir, Turkey.

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http://dx.doi.org/10.1016/j.biopha.2016.10.056DOI Listing
December 2016

A rare sex chromosome aneuploidy: 48,XXYY syndrome.

Turk Pediatri Ars 2016 Jun 1;51(2):106-9. Epub 2016 Jun 1.

Department of Pediatrics, Ege University School of Medicine, İzmir, Turkey.

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http://dx.doi.org/10.5152/TurkPediatriArs.2016.1551DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4959738PMC
June 2016

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

Neuron 2015 Nov;88(3):499-513

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S08966273150083
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http://dx.doi.org/10.1016/j.neuron.2015.09.048DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4824012PMC
November 2015

MicroRNA expression profiling in children with different asthma phenotypes.

Pediatr Pulmonol 2016 Jun 30;51(6):582-7. Epub 2015 Sep 30.

Division of Pulmonology-Allergy, Department of Pediatrics, Ege University School of Medicine, Izmir, Turkey.

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http://dx.doi.org/10.1002/ppul.23331DOI Listing
June 2016

Molecular Basis of β-Thalassemia in the Population of the Aegean Region of Turkey: Identification of A Novel Deletion Mutation.

Hemoglobin 2015 15;39(4):230-4. Epub 2015 Jun 15.

Department of Medical Genetics, Ege University Faculty of Medicine, Medical School Hospital , Bornova, Izmir , Turkey.

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http://dx.doi.org/10.3109/03630269.2015.1038354DOI Listing
May 2016

Laboratory genetic testing in clinical practice 2014.

Biomed Res Int 2015 24;2015:574798. Epub 2015 Mar 24.

Department of Medical Genetics, Faculty of Medicine, Ege University, 35100 Izmir, Turkey.

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http://dx.doi.org/10.1155/2015/574798DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4387964PMC
December 2015

Evolution of genetic techniques: past, present, and beyond.

Biomed Res Int 2015 22;2015:461524. Epub 2015 Mar 22.

Department of Medical Genetics, Ege University Faculty of Medicine, 35100 Izmir, Turkey.

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http://dx.doi.org/10.1155/2015/461524DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4385642PMC
December 2015

A new patient with LACHT syndrome (Mardini-Nyhan association).

Am J Med Genet A 2015 Feb 8;167A(2):400-2. Epub 2014 Dec 8.

Department of Pediatrics, Division of Pediatric Genetics, Faculty of Medicine, Ege University, Izmir, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.36832DOI Listing
February 2015

Molecular analysis in X-linked adrenoleukodystrophy patients: identification of a novel mutation.

Metab Brain Dis 2014 Sep 1;29(3):809-12. Epub 2014 May 1.

Department of Medical Genetics, Ege University Medical Faculty, Izmir, Turkey,

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http://dx.doi.org/10.1007/s11011-014-9552-1DOI Listing
September 2014

A new mutation in the TBX5 gene in Holt-Oram syndrome: two cases in the same family and prenatal diagnosis.

J Trop Pediatr 2014 Jun 9;60(3):257-9. Epub 2014 Jan 9.

Faculty of Medicine, Division of Pediatric Genetics, Department of Pediatrics, Ege University, Izmir, Turkey.

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http://dx.doi.org/10.1093/tropej/fmt109DOI Listing
June 2014

A novel mutation, IVS13+5G>A, in Ellis-van Creveld syndrome associated with haemophagocytic lymphohistiocytosis.

Clin Dysmorphol 2013 Oct;22(4):140-2

aDepartment of Oral and Maxillofacial Surgery, Ege University Faculty of Dentistry bDepartment of Medical Genetics, Ege University Faculty of Medicine cDepartment of Medical Genetics, Dr Behcet Uz Children's Hospital dMolecular Genetics Laboratory, CSS-Mendel Institute, Rome, Italy eDepartment of Pediatric Hematology, Ege University Faculty of Medicine, Izmir fPediatric Hematology, Dr Behcet Uz Children's Hospital, Izmir, Turkey.

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http://dx.doi.org/10.1097/MCD.0b013e3283633831DOI Listing
October 2013

A novel mutation in two families with pycnodysostosis.

Clin Dysmorphol 2013 Jul;22(3):102-5

Departments of Medical Genetics, Faculty of Medicine, Ege University, Izmir, Turkey.

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http://dx.doi.org/10.1097/MCD.0b013e3283619632DOI Listing
July 2013

A novel homozygous HESX1 mutation causes panhypopituitarism without midline defects and optic nerve anomalies.

J Pediatr Endocrinol Metab 2011 ;24(9-10):779-82

Department of Medical Genetics, Faculty of Medicine, Ege University, Bornova, 35100 Izmir, Turkey.

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http://www.degruyter.com/dg/viewarticle.fullcontentlink:pdfe
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http://dx.doi.org/10.1515/jpem.2011.162DOI Listing
January 2012

Micronucleus evaluation for determining the chromosomal breakages after radionuclide synovectomy in patients with hemophilia.

Ann Nucl Med 2012 Jan 14;26(1):41-6. Epub 2011 Oct 14.

Department of Pediatric Hematology, School of Medicine, Ege University, Izmir, Turkey.

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http://dx.doi.org/10.1007/s12149-011-0540-9DOI Listing
January 2012

The rate of sex chromosome aneuploidies in prenatal diagnosis and subsequent decisions in Western Turkey.

Genet Test Mol Biomarkers 2012 Feb 6;16(2):150-3. Epub 2011 Oct 6.

Department of Medical Genetics, Ege University Medical Faculty, Izmir, Turkey.

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http://www.liebertpub.com/doi/10.1089/gtmb.2011.0130
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http://dx.doi.org/10.1089/gtmb.2011.0130DOI Listing
February 2012

The genotoxic effect of radiofrequency waves on mouse brain.

J Neurooncol 2012 Jan 6;106(1):53-8. Epub 2011 Jul 6.

Department of Medical Genetics, Ege University Faculty of Medicine, Izmir, Turkey.

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http://dx.doi.org/10.1007/s11060-011-0644-zDOI Listing
January 2012

The Association of minor congenital anomalies and childhood cancer.

Pediatr Blood Cancer 2011 Jul 25;56(7):1098-102. Epub 2011 Feb 25.

Department of Medical Genetics, Ege University Faculty of Medicine, Izmir, Turkey.

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http://dx.doi.org/10.1002/pbc.23049DOI Listing
July 2011

Interview with parents of children with Down syndrome: their perceptions and feelings.

Indian J Pediatr 2011 Jun 17;78(6):698-702. Epub 2010 Dec 17.

Faculty of Medicine, Department of Medical Genetics, Ege University, Izmir, Turkey.

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http://link.springer.com/10.1007/s12098-010-0315-7
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http://dx.doi.org/10.1007/s12098-010-0315-7DOI Listing
June 2011

A case of acute lymphoblastic leukemia with additional chromosomes X and 5 associated with a Philadelphia chromosome in the bone marrow.

Turk J Haematol 2010 Dec;27(4):299-302

Ege University Faculty of Medicine, Department of Medical Genetics, 35100 Bornova, Izmir, Turkey Phone: +90 232 390 39 61 E-mail:

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http://dx.doi.org/10.5152/tjh.2010.53DOI Listing
December 2010

A severe alpha thalassemia case compound heterozygous for Hb Adana in alpha1 gene and 20.5 kb double gene deletion.

J Pediatr Hematol Oncol 2009 Aug;31(8):592-4

Department of Medical Genetics, Subdivision of Genetics and Teratology, Ege University Medical Faculty, Izmir, Turkey.

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http://dx.doi.org/10.1097/MPH.0b013e3181a71855DOI Listing
August 2009

MEFV mutations in patients with Familial Mediterranean Fever from the Aegean region of Turkey.

Mol Biol Rep 2010 Jan 17;37(1):93-8. Epub 2009 May 17.

Medical Faculty, Department of Medical Genetics, Ege University, Izmir, Turkey.

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http://dx.doi.org/10.1007/s11033-009-9543-1DOI Listing
January 2010

Evaluation of the SMN and NAIP genes in a family: homozygous deletion of the SMN2 gene in the fetus and outcome of the pregnancy.

Genet Test Mol Biomarkers 2009 Jun;13(3):287-8

Department of Medical Genetics, Faculty of Medicine, Ege University, Bornova, Izmir, Turkey.

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http://dx.doi.org/10.1089/gtmb.2008.0139DOI Listing
June 2009

The evaluation of the referral reasons of patients at a tertiary pediatric genetic center in Izmir, Turkey.

Genet Test Mol Biomarkers 2009 Apr;13(2):163-6

Division of Genetics, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey.

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http://dx.doi.org/10.1089/gtmb.2008.0074DOI Listing
April 2009

Pontocerebellar hypoplasia type III (CLAM): extended phenotype and novel molecular findings.

J Neurol 2009 Mar 14;256(3):416-9. Epub 2009 Mar 14.

Ege University, Faculty of Medicine, Dept. of Pediatrics, Divison of Genetics, 35100, Bornova, Izmir, Turkey.

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http://dx.doi.org/10.1007/s00415-009-0094-0DOI Listing
March 2009

Prenatally diagnosed Turner syndrome and cystic hygroma: incidence and reasons for referrals.

Fetal Diagn Ther 2009 12;25(1):58-61. Epub 2008 Mar 12.

Department of Medical Genetics, Ege University Faculty of Medicine, Izmir, Turkey.

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http://dx.doi.org/10.1159/000199869DOI Listing
November 2009

Pachyonychia congenita type 2, N92S mutation of keratin 17 gene: clinical features, mutation analysis and pathological view.

Eur J Pediatr 2009 Oct 24;168(10):1269-72. Epub 2008 Dec 24.

Department of Pediatrics, Ege University, Faculty of Medicine, 35100 Bornova, Izmir, Turkey.

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http://dx.doi.org/10.1007/s00431-008-0908-6DOI Listing
October 2009

Chronic myelogenous leukemia exhibiting trisomy 14 due to a Robertsonian translocation with philadelphia chromosome.

Acta Oncol 2008 ;47(8):1604-6

Department of Medical Genetics, Ege University, Faculty of Medicine, Izmir, Turkey.

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http://dx.doi.org/10.1080/02841860802078077DOI Listing
December 2008

The evaluation of hTERT mRNA expression in acute leukemia children and 2 years follow-up of 40 cases.

Int J Hematol 2008 Apr 22;87(3):276-83. Epub 2008 Feb 22.

Department of Pediatrics, Faculty of Medicine, Ege University, 35100, Bornova, Izmir, Turkey.

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http://dx.doi.org/10.1007/s12185-008-0054-yDOI Listing
April 2008

Seckel syndrome with Morgagni hernia.

Clin Dysmorphol 2007 Jul;16(3):209-10

Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey.

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http://dx.doi.org/10.1097/MCD.0b013e3281c9b08eDOI Listing
July 2007

Two cases of macrocephaly and immune deficiency.

Clin Dysmorphol 2007 Apr;16(2):81-4

Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey.

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http://dx.doi.org/10.1097/MCD.0b013e3280464ee6DOI Listing
April 2007

Unusual course of an acute lymphoblastic leukemia case with i(9q) as a sole cytogenetic abnormality.

Leuk Res 2006 Nov 24;30(11):1461-3. Epub 2006 Mar 24.

Ege University, Faculty of Medicine, Department of Pediatrics, Izmir, Turkey.

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http://dx.doi.org/10.1016/j.leukres.2006.02.018DOI Listing
November 2006

Evaluation of Manisa propolis effect on leukemia cell line by telomerase activity.

Leuk Res 2005 Nov;29(11):1343-6

Ege University, Faculty of Medicine, Department of Medical Biology, Izmir, Turkey.

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http://dx.doi.org/10.1016/j.leukres.2005.04.010DOI Listing
November 2005

A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia.

J Clin Endocrinol Metab 2005 Sep 5;90(9):5259-64. Epub 2005 Jul 5.

Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, Texas 75390-9052, USA.

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http://dx.doi.org/10.1210/jc.2004-2560DOI Listing
September 2005

Trigonocephaly and Wilson's disease in two siblings.

Clin Dysmorphol 2005 Jul;14(3):161-4

Department of Pediatrics, Ege University, Faculty of Medicine, Izmir, Turkey.

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http://dx.doi.org/10.1097/00019605-200507000-00013DOI Listing
July 2005

Ring chromosome 20 syndrome with intractable epilepsy.

Dev Med Child Neurol 2005 May;47(5):343-6

Genetic Diseases Research and Application, Centre Ege University, Bornova, Izmir, Turkey.

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http://dx.doi.org/10.1017/s0012162205000642DOI Listing
May 2005

Hair zinc level in Down syndrome.

Downs Syndr Res Pract 2004 Jul;9(2):53-7

Adnan Menderes University, Faculty of Medicine, Department of Pediatrics, Aydin, Turkey.

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http://dx.doi.org/10.3104/reports.292DOI Listing
July 2004

Evaluation of 80 children with prolonged fever.

Pediatr Int 2003 Oct;45(5):564-9

Faculty of Medicine, Department of Pediatrics, Ege University, Izmir, Turkey.

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http://dx.doi.org/10.1046/j.1442-200x.2003.01793.xDOI Listing
October 2003

Achondroplasia in Turkey is defined by recurrent G380R mutation of the FGFR3 gene.

Turk J Pediatr 2003 Apr-Jun;45(2):99-101

Department of Molecular Biology, Faculty of Science, Ege University, Izmir, Turkey.

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November 2003

Celiac disease in children with Down syndrome: importance of follow-up and serologic screening.

Pediatr Int 2003 Aug;45(4):395-9

Departments of Pediatrics and Medical Biology, Faculty of Medicine, Ege University, Izmir, Turkey.

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http://dx.doi.org/10.1046/j.1442-200x.2003.01755.xDOI Listing
August 2003

Valproic acid and lamotrigine treatment during pregnancy. The risk of chromosomal abnormality.

Mutat Res 2003 Jan;534(1-2):197-9

Department of Paediatrics, Faculty of Medicine, Ege University, Izmir, Turkey.

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http://dx.doi.org/10.1016/s1383-5718(02)00254-1DOI Listing
January 2003

New chromosome rearrangement in acute lymphoblastic leukemia.

Cancer Genet Cytogenet 2002 Sep;137(2):150-2

Department of Medical Biology, Ege University Faculty of Medicine, 35100 Bornova, Izmir, Turkey.

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http://dx.doi.org/10.1016/s0165-4608(02)00561-7DOI Listing
September 2002

The second case with 47, XY, + 8 [38] / 45, X0.

Turk J Pediatr 2002 Jan-Mar;44(1):86-9

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March 2002