Huseyin Onay

Huseyin Onay

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Huseyin Onay

Publications by authors named "Huseyin Onay"

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BRCA1-BRCA2 mutation analysis results in 910 individuals: Mutation distribution and 8 novel mutations.

Cancer Genet 2020 Jan 2. Epub 2020 Jan 2.

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

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http://dx.doi.org/10.1016/j.cancergen.2019.12.008DOI Listing
January 2020

Congenital generalized lipodystrophy: The evaluation of clinical follow-up findings in a series of five patients with type 1 and two patients with type 4.

Eur J Med Genet 2019 Nov 25:103819. Epub 2019 Nov 25.

Department of Pediatric Genetics, Istanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Istanbul, Turkey. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103819DOI Listing
November 2019

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

Izmir Mental Health Cohort for Gene-Environment Interaction in Psychosis (TürkSch): Assessment of the Extended and Transdiagnostic Psychosis Phenotype and Analysis of Attrition in a 6-Year Follow-Up of a Community-Based Sample.

Front Psychiatry 2019 7;10:554. Epub 2019 Aug 7.

Maastricht University Medical Centre, School of Mental Health and Neuroscience, Department of Psychiatry and Psychology, South Limburg Mental Health Research and Teaching Network, Maastricht, Netherlands.

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http://dx.doi.org/10.3389/fpsyt.2019.00554DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6692632PMC
August 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

DSM outcomes of psychotic experiences and associated risk factors: 6-year follow-up study in a community-based sample.

Psychol Med 2019 06 13;49(8):1346-1356. Epub 2018 Aug 13.

Department of Psychiatry and Psychology,Maastricht University Medical Centre, School of Mental Health and Neuroscience, South Limburg Mental Health Research and Teaching Network,PO Box 616, Vijverdal 6200 MD, Maastricht,The Netherlands.

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http://dx.doi.org/10.1017/S0033291718001964DOI Listing
June 2019

Vitamin D receptor gene polymorphisms in ocular surface squamous cell neoplasms.

Eur J Ophthalmol 2019 Jun 24:1120672119858225. Epub 2019 Jun 24.

1 Department of Ophthalmology, Faculty of Medicine, Ege University, Izmir, Turkey.

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http://dx.doi.org/10.1177/1120672119858225DOI Listing
June 2019

Variation in the Oxytocin Receptor Gene Is Associated With Social Cognition and ADHD.

J Atten Disord 2019 May 6;23(7):702-711. Epub 2017 May 6.

2 Ege University, İzmir, Turkey.

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http://dx.doi.org/10.1177/1087054717706757DOI Listing
May 2019

Coexistence of Gaucher Disease and severe congenital neutropenia.

Blood Cells Mol Dis 2019 05 10;76:1-6. Epub 2018 Aug 10.

Ege University Medical Faculty, Pediatric Metabolism Department, İzmir, Turkey.

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https://linkinghub.elsevier.com/retrieve/pii/S10799796183005
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http://dx.doi.org/10.1016/j.bcmd.2018.07.001DOI Listing
May 2019

A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia

J Clin Res Pediatr Endocrinol 2019 May 15. Epub 2019 May 15.

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

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http://dx.doi.org/10.4274/jcrpe.galenos.2019.2019.0023DOI Listing
May 2019

Congenital Neutropenia Patient With Hypomorphic Biallelic CSF3R Mutation Responding to GCSF.

J Pediatr Hematol Oncol 2019 Apr;41(3):e190-e192

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

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http://dx.doi.org/10.1097/MPH.0000000000001258DOI Listing
April 2019

Deletions in SERPING1 Lead to Lower C1 Inhibitor Function: Lower C1 Inhibitor Function Can Predict Disease Severity.

Int Arch Allergy Immunol 2019;178(1):50-59. Epub 2018 Oct 2.

Division of Allergy and Immunology, Department of Internal Medicine, Ege University Faculty of Medicine, Izmir, Turkey.

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http://dx.doi.org/10.1159/000492583DOI Listing
April 2019

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

J Clin Res Pediatr Endocrinol 2019 04 10. Epub 2019 Apr 10.

Department of Pediatric Endocrinology, School of Medicine, Ege University, Izmir, Turkey

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http://dx.doi.org/10.4274/jcrpe.galenos.2019.2018.0198DOI Listing
April 2019

Is BDNF-Val66Met polymorphism associated with psychotic experiences and psychotic disorder outcome? Evidence from a 6 years prospective population-based cohort study.

Am J Med Genet B Neuropsychiatr Genet 2019 03 21;180(2):113-121. Epub 2018 May 21.

School for Mental Health and Neuroscience (MHeNS), Department of Psychiatry and Psychology, Maastricht University Medical Centre, Maastricht, The Netherlands.

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http://doi.wiley.com/10.1002/ajmg.b.32641
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http://dx.doi.org/10.1002/ajmg.b.32641DOI Listing
March 2019

Evaluation of CNTNAP2 gene rs2107856 polymorphism in Turkish population with pseudoexfoliation syndrome.

Int Ophthalmol 2019 Jan 19;39(1):167-173. Epub 2017 Dec 19.

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

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http://dx.doi.org/10.1007/s10792-017-0800-3DOI Listing
January 2019

Aromatase Deficiency due to a Novel Mutation in Gene

J Clin Res Pediatr Endocrinol 2018 11 19;10(4):377-381. Epub 2018 Mar 19.

Dicle University Faculty of Medicine, Department of Pediatric Endocrinology, Diyarbakır, Turkey

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http://dx.doi.org/10.4274/jcrpe.0011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6280327PMC
November 2018

A Novel Mutation of in Two Siblings with Persistent Müllerian Duct Syndrome

J Clin Res Pediatr Endocrinol 2018 11 24;10(4):387-390. Epub 2018 Apr 24.

Dicle University Faculty of Medicine, Department of Pediatric Endocrinology, Diyarbakır, Turkey

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http://dx.doi.org/10.4274/jcrpe.0013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6280330PMC
November 2018

A new type of familial partial lipodystrophy: distinctive fat distribution and proteinuria.

Endocr Res 2018 Nov 7;43(4):258-263. Epub 2018 May 7.

f Division of Endocrinology , Dokuz Eylul University , Izmir , Turkey.

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http://dx.doi.org/10.1080/07435800.2018.1470188DOI Listing
November 2018

Severe hyperchylomicronemia in two infants with novel APOC2 gene mutation.

J Pediatr Endocrinol Metab 2018 Nov;31(11):1289-1293

Dokuz Eylul University, Department of Pediatric Metabolism and Nutrition, Izmir, Turkey.

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http://dx.doi.org/10.1515/jpem-2018-0280DOI Listing
November 2018

Management of a Patient With Congenital Biallelic CSF3R Mutation With GM-CSF.

J Pediatr Hematol Oncol 2018 Nov 28. Epub 2018 Nov 28.

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

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http://dx.doi.org/10.1097/MPH.0000000000001359DOI Listing
November 2018

A Novel Mutation of AMHR2 In Two Siblings with Persistent Müllerian Duct Syndrome.

Sex Dev 2017 13;11(5-6):289-292. Epub 2018 Jan 13.

Department of Pediatric Endocrinology, Cerrahpasa Faculty of Medicine, Istanbul University, Istanbul, Turkey.

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http://dx.doi.org/10.1159/000485882DOI 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

Moniliform blepharosis in lipoid proteinosis with a homozygous ECM1 gene mutation.

Ophthalmic Genet 2018 08 2;39(4):550-552. Epub 2018 May 2.

d Department of Psychiatry , Ege University , Izmir , Turkey.

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http://dx.doi.org/10.1080/13816810.2018.1466339DOI Listing
August 2018

Single center experience of biotinidase deficiency: 259 patients and six novel mutations.

J Pediatr Endocrinol Metab 2018 Aug;31(8):917-926

Ege University Faculty of Medicine, Department of Pediatrics, Division of Metabolism and Nutrition, Bornova Izmir, Turkey.

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http://dx.doi.org/10.1515/jpem-2018-0148DOI Listing
August 2018

and polymorphisms in children with high myopia.

Pak J Med Sci 2018 Mar-Apr;34(2):463-467

Prof. Onder Uretmen, MD. Department of Ophthalmology, Ege University Faculty of Medicine, Izmir, Turkey.

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http://dx.doi.org/10.12669/pjms.342.14616DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5954398PMC
May 2018

Dry eye and Meibomian gland dysfunction with meibography in patients with lamellar ichthyosis.

Cont Lens Anterior Eye 2018 04 20;41(2):154-156. Epub 2017 Jun 20.

Ege University Faculty of Medicine, Department of Ophthalmology, Turkey.

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http://dx.doi.org/10.1016/j.clae.2017.06.001DOI Listing
April 2018

Analysis of the GCK gene in 79 MODY type 2 patients: A multicenter Turkish study, mutation profile and description of twenty novel mutations.

Gene 2018 Jan 19;641:186-189. Epub 2017 Oct 19.

Department of Medical Genetics, School of Medicine, Ege University, Izmir, Turkey; Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Ege University, Izmir, Turkey.

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http://dx.doi.org/10.1016/j.gene.2017.10.057DOI Listing
January 2018

The oxytocin receptor gene polymorphism -rs237902- is associated with the severity of autism spectrum disorder: A pilot study.

Asian J Psychiatr 2018 Jan 31;31:142-149. Epub 2018 Jan 31.

Department of Medical Genetic, Ege University School of Medicine, Bornova, Izmir, Turkey. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S18762018173067
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http://dx.doi.org/10.1016/j.ajp.2018.01.002DOI Listing
January 2018

CHN1 gene mutation analysis in patients with Duane retraction syndrome.

J AAPOS 2017 Dec 13;21(6):472-475.e2. Epub 2017 Oct 13.

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

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http://dx.doi.org/10.1016/j.jaapos.2017.07.208DOI Listing
December 2017

Two patients with Apert syndrome with different mutations: the importance of early diagnosis.

Turk Pediatri Ars 2017 Dec 1;52(4):231-235. Epub 2017 Dec 1.

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

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http://dx.doi.org/10.5152/TurkPediatriArs.2016.3305DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5819862PMC
December 2017

The spectrum of HNF1A gene mutations in patients with MODY 3 phenotype and identification of three novel germline mutations in Turkish Population.

Diabetes Metab Syndr 2017 Nov 31;11 Suppl 1:S491-S496. Epub 2017 Mar 31.

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

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http://dx.doi.org/10.1016/j.dsx.2017.03.042DOI Listing
November 2017

Whole-genome gene expression analysis in urine samples of patients with prostate cancer and benign prostate hyperplasia.

Urol Oncol 2017 10 21;35(10):607.e15-607.e24. Epub 2017 Jun 21.

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

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http://dx.doi.org/10.1016/j.urolonc.2017.05.020DOI Listing
October 2017

Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter study.

Neuromuscul Disord 2017 Oct 1;27(10):923-930. Epub 2017 Jun 1.

Department of Internal Medicine, Division of Endocrinology, Dokuz Eylul University, Izmir, Turkey.

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http://dx.doi.org/10.1016/j.nmd.2017.05.015DOI Listing
October 2017

Early-onset severe obesity due to complete deletion of the leptin gene in a boy.

J Pediatr Endocrinol Metab 2017 Oct;30(11):1227-1230

.

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http://dx.doi.org/10.1515/jpem-2017-0063DOI Listing
October 2017

Testicular Adrenal Rest Tumor (TART) in congenital adrenal hyperplasia.

Eur J Med Genet 2017 Sep 1;60(9):489-493. Epub 2017 Jul 1.

Ege University, Faculty of Medicine, Department of Endocrinology and Metabolism Diseases, Turkey.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212173009
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http://dx.doi.org/10.1016/j.ejmg.2017.06.009DOI Listing
September 2017

[Fabry disease: An overlooked diagnosis in adult cardiac patients].

Turk Kardiyol Dern Ars 2017 Sep;45(6):549-555

Department of Cardiology, Ege University Faculty of Medicine, İzmir, Turkey.

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http://dx.doi.org/10.5543/tkda.2017.68709DOI Listing
September 2017

Association of Lysyl Oxidase-like 1 Gene Polymorphism in Turkish Patients With Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma.

J Glaucoma 2017 07;26(7):684-685

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

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http://dx.doi.org/10.1097/IJG.0000000000000672DOI Listing
July 2017

Identification of an AR mutation in Klinefelter syndrome during evaluation for penoscrotal hypospadias.

Hormones (Athens) 2017 Jul;16(3):313-317

Department of Pediatric Endocrinology, Dokuz Eylul University, Faculty of Medicine, Narlıdere, İzmir, 35340, Turkey.

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http://dx.doi.org/10.14310/horm.2002.1741DOI Listing
July 2017

Rapid Molecular Genetic Diagnosis with Next-Generation Sequencing in 46,XY Disorders of Sex Development Cases: Efficiency and Cost Assessment.

Horm Res Paediatr 2017 30;87(2):81-87. Epub 2016 Nov 30.

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

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https://www.karger.com/Article/FullText/452995
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http://dx.doi.org/10.1159/000452995DOI Listing
June 2017

Persistent Müllerian Duct Syndrome with Transverse Testicular Ectopia: A Novel Anti-Müllerian Hormone Receptor Mutation.

J Clin Res Pediatr Endocrinol 2017 Jun 17;9(2):179-181. Epub 2017 Jan 17.

Ege University Faculty of Medicine, Department of Pediatric Endocrinology, İzmir, Turkey, E-mail:

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http://dx.doi.org/10.4274/jcrpe.4058DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5463293PMC
June 2017

A further family of Stromme syndrome carrying CENPF mutation.

Am J Med Genet A 2017 Jun 13;173(6):1668-1672. Epub 2017 Apr 13.

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

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http://dx.doi.org/10.1002/ajmg.a.38173DOI Listing
June 2017

Bilateral choanal atresia in an adult woman with pycnodysostosis.

Congenit Anom (Kyoto) 2017 May;57(3):91-92

Department of Medical Genetics, Faculty of Medicine, Ankara University, Ankara, Turkey.

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http://dx.doi.org/10.1111/cga.12204DOI Listing
May 2017

HAX1 mutation positive children presenting with haemophagocytic lymphohistiocytosis.

Br J Haematol 2017 05 7;177(4):597-600. Epub 2017 Feb 7.

Department of Paediatric Haematology-Oncology, Dr. Behçet Uz Children Research and Training Hospital, Izmir, Turkey.

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http://dx.doi.org/10.1111/bjh.14574DOI Listing
May 2017

Association of vitamin D receptor polymorphisms and type 1 diabetes susceptibility in children: a meta-analysis.

Endocr Connect 2017 Apr 23;6(3):159-171. Epub 2017 Feb 23.

Department of Medical GeneticsFaculty of Medicine, Ege University, Bornova, Izmir, Turkey.

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http://dx.doi.org/10.1530/EC-16-0110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5424779PMC
April 2017

Persistent Müllerian duct syndrome: A novel mutation in the Αnti-Müllerian Ηormone gene.

Hormones (Athens) 2017 Apr;16(2):205-208

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

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http://dx.doi.org/10.14310/horm.2002.1735DOI Listing
April 2017

Griscelli Syndrome Presented with Status Epilepticus and Hemophagocytic Lymphohistiocytosis

Turk J Haematol 2017 03 18;34(1):120-121. Epub 2016 Apr 18.

Abant İzzet Baysal University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Hematology, Bolu, Turkey Phone : +90 374 270 45 75-3463 E-mail:

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http://dx.doi.org/10.4274/Tjh.2015.0416DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5451681PMC
March 2017

Targeted next generation sequencing: the diagnostic value in early-onset epileptic encephalopathy.

Acta Neurol Belg 2017 Mar 12;117(1):131-138. Epub 2016 Oct 12.

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

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http://dx.doi.org/10.1007/s13760-016-0709-zDOI Listing
March 2017

A novel mutation and in vivo confocal microscopic findings in Fabry disease.

Saudi J Ophthalmol 2017 Jan-Mar;31(1):45-47. Epub 2017 Jan 3.

Ege University Faculty of Medicine, Department of Paediatrics, Division of Metabolism and Nutrition, Izmir, Turkey.

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http://dx.doi.org/10.1016/j.sjopt.2016.12.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5352937PMC
January 2017

LOXL1 gene analysis in Turkish patients with exfoliation glaucoma.

Int Ophthalmol 2016 Oct 13;36(5):629-35. Epub 2016 Jan 13.

Department of Ophthalmology, Faculty of Medicine, Ege University, Goz Hast. AD, Bornova, 35040, Izmir, Turkey.

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http://dx.doi.org/10.1007/s10792-016-0174-yDOI Listing
October 2016

Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey.

J Clin Endocrinol Metab 2016 07 4;101(7):2759-67. Epub 2016 May 4.

Department of Internal Medicine (B.A., T.D., U.C., A.C.), Division of Endocrinology, Dokuz Eylul University, Izmir, Turkey; Department of Medical Genetics (H.O., S.O.), Ege University, Izmir, Turkey; Department of Pediatrics (S.O.), Division of Pediatric Endocrinology, Ege University, Izmir, Turkey; Department of Medical Genetics (H.K., U.A.), Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey; Department of Medical Genetics (H,K., A.A.), Koc University School of Medicine, Istanbul, Turkey; Division of Pediatric Neurology (G.A.), Dr. Behcet Uz Children's Hospital, Izmir, Turkey; Department of Pediatrics (B.N., E.M.), Division of Pediatric Genetics, Akdeniz University, Antalya, Turkey; Department of Pediatrics (B.T.), Division of Genetics, Istanbul Cerrahpasa University, Istanbul, Turkey; Division of Pediatric Endocrinology (M.N.O.), Diyarbakir Children's Hospital, Diyarbakir, Turkey; Department of Internal Medicine (A.G., H.B.S), Division of Endocrinology, Ataturk University, Erzurum, Turkey; Department of Internal Medicine (I.Y.S.), Division of Endocrinology, Ege University, Izmir, Turkey; Department of Radiology (C.A., M.S.), Dokuz Eylul University, Izmir, Turkey; Department of Biochemistry (L.D., F.S.), Ataturk Training Hospital, Izmir, Turkey; Department of Pediatrics (E.S.), Division of Pediatric Endocrinology, Osmangazi University, Eskisehir, Turkey; Department of Internal Medicine (M.A.), Division of Endocrinology, Yuzuncu Yil University, Van, Turkey; Department of Pediatrics (H.T.), Division of Pediatric Neurology, Hacettepe University, Ankara, Turkey; Department of Internal Medicine (H.A.), Division of Endocrinology, Ondokuz Mayis University, Samsun, Turkey; Department of Pediatrics (T.A.), Division of Pediatric Genetics, Ege University, Izmir, Turkey; and Department of Internal Medicine and the Center for Human Nutrition (A.G.), Division of Nutrition and Metabolic Diseases, UT Southwestern Medical Center, Dallas, Texas.

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http://dx.doi.org/10.1210/jc.2016-1005DOI Listing
July 2016

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

Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss.

PLoS One 2015 11;10(11):e0142154. Epub 2015 Nov 11.

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

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0142154PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4641619PMC
June 2016

Mannose-binding lectin may affect pregnancy outcome.

Turk J Pediatr 2015 Jan-Feb;57(1):26-33

Divisions of Neonatology, Ege University Faculty of Medicine, İzmir, Turkey.

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http://www.turkishjournalpediatrics.org/pediatrics/pdf/pdf_T
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June 2016

Mutation Spectrum and Phenotypic Features in Noonan Syndrome with PTPN11 Mutations: Definition of Two Novel Mutations.

Indian J Pediatr 2016 Jun 28;83(6):517-21. Epub 2016 Jan 28.

Division of Genetics, Department of Pediatrics, School of Medicine, Ege University, 35100, Bornova, Izmir, Turkey.

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http://dx.doi.org/10.1007/s12098-015-1998-6DOI Listing
June 2016

A Novel Mutation in Human Androgen Receptor Gene Causing Partial Androgen Insensitivity Syndrome in a Patient Presenting with Gynecomastia at Puberty.

J Clin Res Pediatr Endocrinol 2016 Jun 18;8(2):232-5. Epub 2016 Apr 18.

Tepecik Training and Research Hospital, Clinic of Pediatrics, İzmir, Turkey, Phone: +90 232 469 69 69-3817 E-mail:

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http://dx.doi.org/10.4274/jcrpe.2637DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5096482PMC
June 2016

Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4.

Eur J Med Genet 2016 Jun 7;59(6-7):320-4. Epub 2016 May 7.

Division of Nutrition and Metabolic Diseases, Center for Human Nutrition, Department of Internal Medicine, UT Southwestern Medical Center at Dallas, Dallas, TX, USA.

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http://dx.doi.org/10.1016/j.ejmg.2016.05.001DOI 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

A Severe Congenital Neutropenia Type 4 Case (G6PC3 Mutation) Presented With Large Platelets in the Peripheral Smear.

J Pediatr Hematol Oncol 2016 05;38(4):324-8

Departments of *Pediatrics, Division of Hematology and Oncology †Pediatrics, Division of Neonatology §Pediatrics, Faculty of Medicine, Cumhuriyet University, Sivas ‡Department of Medical Genetics, Faculty of Medicine, Ege University, İzmir, Turkey.

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http://dx.doi.org/10.1097/MPH.0000000000000504DOI Listing
May 2016

A case of familial partial lipodystrophy caused by a novel lamin A/C (LMNA) mutation in exon 1 (D47N).

Eur J Intern Med 2016 Apr 7;29:37-9. Epub 2016 Jan 7.

Dokuz Eylul University, Division of Endocrinology, Izmir, Turkey.

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http://dx.doi.org/10.1016/j.ejim.2015.12.012DOI Listing
April 2016

Diffuse hypomyelination is not obligate for POLR3-related disorders.

Neurology 2016 Apr 30;86(17):1622-6. Epub 2016 Mar 30.

From the Laboratory of Neurogenetics of Motion (R.L.P.) and Department of Neuroradiology (R.L.P.), Montreal Neurological Institute and Hospital, and the Departments of Neurology and Neurosurgery (R.L.P., L.T.T., K.G., G.B.) and Pediatrics (R.L.P., L.T.T., K.G., G.B.), McGill University, Montreal, Canada; Departments of Child Neurology (F.K.C., M.S.v.d.K., N.I.W.) and Clinical Genetics (F.K.C., R.v.S.), VU University Medical Center, Amsterdam, the Netherlands; Department of Genetics (K.Õ.) United Laboratories, Tartu University Hospital, Tartu; Department of Pediatrics (K.Õ.), University of Tartu, Estonia; Institute of Human Genetics (T.H.), Technische Universität München; Institute of Human Genetics (T.H.), Helmholtz Zentrum München, Munich, Germany; Department of Neurology (E.W.), Birmingham Children's Hospital, UK; Department of Neurology (D.T.), University Clinic Essen, University of Duisburg-Essen, Germany; Department of Child and Adolescent Neurology (H.M.), Institute of Mother and Child, Warsaw, Poland; Department of Child Neurology (B.T.P.), AMC Academic Medical Center, Amsterdam, the Netherlands; West Midlands Regional Clinical Genetics Unit (C.P., H.C.), Birmingham Women's Hospital, UK; Departments of Pediatrics (T.A.) and Medical Genetics (H.O.), Faculty of Medicine (F.O.), Ege University, Izmir, Turkey; Department of Neurology (A.V.), Children's National Health System, Washington, DC; Neuroscience Campus Amsterdam (M.S.v.d.K., N.I.W.), the Netherlands; and Department of Medical Genetics (G.B.), Montreal Children's Hospital, McGill University Health Center, Montreal, Canada.

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http://dx.doi.org/10.1212/WNL.0000000000002612DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4844237PMC
April 2016

Mannose-binding lectin gene polymorphism and chronic hepatitis B infection in children.

Saudi J Gastroenterol 2015 Mar-Apr;21(2):84-9

Department of Pediatric Gastroenterology, Hepatology and Nutrition, Uludag University Medical Faculty, Bursa, Turkey.

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http://dx.doi.org/10.4103/1319-3767.153825DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4392580PMC
January 2016

Molecular Genetic Analysis of Survival Motor Neuron Gene in 460 Turkish Cases with Suspicious Spinal Muscular Atrophy Disease.

Iran J Child Neurol 2016 ;10(4):30-35

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5100035PMC
January 2016

Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes.

Eur J Med Genet 2015 Dec 27;58(12):689-94. Epub 2015 Oct 27.

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

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http://dx.doi.org/10.1016/j.ejmg.2015.10.011DOI Listing
December 2015

Pregnancy-associated plasma protein A gene polymorphism in pregnant women with preeclampsia and intrauterine growth restriction.

Kaohsiung J Med Sci 2015 Oct 28;31(10):518-22. Epub 2015 Sep 28.

Department of Obstetrics and Gynecology, Ege University Faculty of Medicine, Izmir, Turkey.

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http://dx.doi.org/10.1016/j.kjms.2015.08.005DOI Listing
October 2015

Three patients with lafora disease: different clinical presentations and a novel mutation.

J Child Neurol 2015 May 10;30(6):777-81. Epub 2014 Jul 10.

Department of Pediatrics, Division of Pediatric Neurology, Faculty of Medicine, Erciyes University, Kayseri, Turkey.

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http://dx.doi.org/10.1177/0883073814535489DOI Listing
May 2015

Associations of interleukin (IL)-1β, IL-1 receptor antagonist, and IL-10 with dental caries.

J Oral Sci 2015 Mar;57(1):31-6

Department of Pedodontics, School of Dentistry, Ege University.

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http://dx.doi.org/10.2334/josnusd.57.31DOI Listing
March 2015

Hereditary thrombophilia (factor V R2-mutation) as a contributing factor in premature myocardial infarction associated with pregnancy.

Anadolu Kardiyol Derg 2014 Nov 22;14(7):652-4. Epub 2014 Aug 22.

Department of Cardiology, Faculty of Medicine, Ege University; İzmir-Turkey.

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http://dx.doi.org/10.5152/akd.2014.5506DOI Listing
November 2014

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

Association of vitamin D receptor gene polymorphisms and bronchopulmonary dysplasia.

Pediatr Res 2014 Aug 5;76(2):171-6. Epub 2014 May 5.

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

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http://dx.doi.org/10.1038/pr.2014.63DOI Listing
August 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

Association of mannose binding lectin codon 54 polymorphism with predisposition to Henoch-Schönlein purpura in childhood.

Int J Rheum Dis 2014 Mar 28;17(3):317-20. Epub 2014 Feb 28.

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

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http://dx.doi.org/10.1111/1756-185X.12321DOI Listing
March 2014

Relationship between IL1β-511C>T and ILRN VNTR polymorphisms and keratoconus.

Cornea 2014 Feb;33(2):145-7

Departments of *Ophthalmology and †Medical Genetics, Ege University Faculty of Medicine, Izmir, Turkey.

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http://dx.doi.org/10.1097/ICO.0000000000000027DOI Listing
February 2014

The association of RANK gene C421T and C575T polymorphisms with bone mineral density in postmenopausal Turkish women.

Arch Gynecol Obstet 2013 Oct 5;288(4):917-23. Epub 2013 Apr 5.

Department of Physical Medicine and Rehabilitation, Ege University Faculty of Medicine, Izmir, Turkey,

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http://dx.doi.org/10.1007/s00404-013-2831-yDOI Listing
October 2013

A Novel Missense Mutation in BRAF Caused Cardio-Facio-Cutaneous Syndrome.

Iran J Pediatr 2013 Oct;23(5):608-9

Department of Medical Genetics, Dr. Behcet Uz Children's Hospital, Izmir, Turkey.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4006518PMC
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