Publications by authors named "Serdar Ceylaner"

100Publications

LRBA deficiency: a rare cause of type 1 diabetes, colitis, and severe immunodeficiency.

Hormones (Athens) 2020 Nov 5. Epub 2020 Nov 5.

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

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http://dx.doi.org/10.1007/s42000-020-00257-zDOI Listing
November 2020

Cytochrome P450 oxidoreductase deficiency caused by a novel mutation in the POR gene in two siblings: case report and literature review.

Hormones (Athens) 2020 Oct 29. Epub 2020 Oct 29.

Department of Pediatric Endocrinology, Gazi Yaşargil Training and Research Hospital, Diyarbakır, Turkey.

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http://dx.doi.org/10.1007/s42000-020-00249-zDOI Listing
October 2020

Rare slow channel congenital myasthenic syndromes without repetitive compound muscle action potential and dramatic response to low dose fluoxetine.

Acta Neurol Belg 2020 Oct 8. Epub 2020 Oct 8.

Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34390, Capa, Istanbul, Turkey.

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http://dx.doi.org/10.1007/s13760-020-01505-0DOI Listing
October 2020

Aceruloplasminemia Presenting with Asymmetric Chorea Due to a Novel Frameshift Mutation.

Mov Disord Clin Pract 2020 Sep 29;7(Suppl 3):S67-S70. Epub 2020 Sep 29.

Department of Neurology Ankara University School of Medicine Ankara Turkey.

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http://dx.doi.org/10.1002/mdc3.13062DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7525192PMC
September 2020

Clinical Features and Outcomes of 23 Patients with Wiskott-Aldrich Syndrome: A Single-Center Experience

Turk J Haematol 2020 11 19;37(4):271-281. Epub 2020 Aug 19.

Ankara University School of Medicine, Department of Pediatrics, Division of Immunology and Allergy, Ankara, Turkey

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http://dx.doi.org/10.4274/tjh.galenos.2020.2020.0334DOI Listing
November 2020

Mild lamellar ichthyosis with a truncated homozygous TGM1 mutation in a pediatric patient from Turkey.

Dermatol Ther 2020 Aug 6:e14152. Epub 2020 Aug 6.

Department of Dermatology, University of Health Sciences Ankara Research and Training Hospital, Ankara, Turkey.

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http://dx.doi.org/10.1111/dth.14152DOI Listing
August 2020

Two Novel Variants and One Previously Reported Variant in the Insulin Receptor Gene in Two Cases with Severe Insulin Resistance Syndrome.

Mol Syndromol 2020 Jun 18;11(2):90-96. Epub 2020 Mar 18.

Department of Pediatric Endocrinology, Cerrahpasa Medical School, Istanbul University-Cerrahpasa, Istanbul, Turkey.

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http://dx.doi.org/10.1159/000506722DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7325121PMC
June 2020

Genetic Management Algorithm in High-Risk Fabry Disease Cases; especially in Female Indexes with Mutations.

Endocr Metab Immune Disord Drug Targets 2020 Jul 8. Epub 2020 Jul 8.

Department of Medical Genetics, Intergen Genetic Centre, Ankara. Turkey.

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http://dx.doi.org/10.2174/1871530320666200708135826DOI Listing
July 2020

Clinical and genetic characteristics of patients with corticosterone methyloxidase deficiency type 2: Novel mutations in .

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

Istanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, Department of Pediatric Endocrinology, Istanbul, Turkey.

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http://dx.doi.org/10.4274/jcrpe.galenos.2020.2019.0216DOI Listing
June 2020

A Rare Cause of Adrenal Insufficiency - Isolated ACTH Deficiency Due to TBX19 Mutation: Long-Term Follow-Up of Two Cases and Review of the Literature.

Horm Res Paediatr 2019 28;92(6):395-403. Epub 2020 Apr 28.

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

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http://dx.doi.org/10.1159/000506740DOI Listing
July 2020

TREATMENT DIFFICULTIES IN HYPOMAGNESEMIA SECONDARY TO THE TRANSIENT RECEPTOR POTENTIAL MELASTATIN 6 GENE: A CASE REPORT WITH NOVEL MUTATION.

J Clin Res Pediatr Endocrinol 2020 04 17. Epub 2020 Apr 17.

Dr. Sami Ulus Maternity and Children's Health and Diseases Training and Research Hospital, Department of Pediatrics, Ankara, Turkey.

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http://dx.doi.org/10.4274/jcrpe.galenos.2020.2020.0004DOI Listing
April 2020

Importance of DNA Sequencing for Abnormal Hemoglobins Detected by HPLC Screening

Turk J Haematol 2020 05 4;37(2):134-135. Epub 2020 Mar 4.

Intergen Genetic Diseases Diagnosis Center, Ankara, Turkey

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http://dx.doi.org/10.4274/tjh.galenos.2020.2019.0470DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7236411PMC
May 2020

Clinical, immunological features and follow up of 20 patients with dedicator of cytokinesis 8 (DOCK8) deficiency.

Pediatr Allergy Immunol 2020 Jul 11;31(5):515-527. Epub 2020 Mar 11.

Department of Pediatrics, Division of Immunology and Allergy, Ankara University Faculty of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.1111/pai.13236DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7228270PMC
July 2020

Ataxia, tremor, intellectual disability: a case of STXBP1 encephalopathy with a new mutation.

Turk J Pediatr 2019 ;61(5):757-759

Intergen Genetics Centre, Ankara, Turkey.

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http://dx.doi.org/10.24953/turkjped.2019.05.015DOI Listing
August 2020

A novel mutation which causes a frameshift in the PHOX2B gene causes Haddad syndrome.

Clin Dysmorphol 2020 Jul;29(3):152-154

Department of Pediatrics, Division of Neonatology, Faculty of Medicine, University of Kirikkale, Kirikkale, Turkey.

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http://dx.doi.org/10.1097/MCD.0000000000000317DOI Listing
July 2020

Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe.

Am J Med Genet A 2020 04 25;182(4):705-712. Epub 2020 Jan 25.

Faculty of Medicine, Department of Pediatrics, Division of Pediatric Metabolism, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.61488DOI Listing
April 2020

Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis.

Turk J Pediatr 2019 ;61(2):261-266

Departments of Neonatology, Ankara Pediatrics, Hematology- Oncology Training and Research Hospital.

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http://dx.doi.org/10.24953/turkjped.2019.02.016DOI Listing
July 2020

Cardiac Tamponade in Gorham-Stout Syndrome Associated with GATA2 Mutation.

Indian J Pediatr 2020 03 14;87(3):239-240. Epub 2020 Jan 14.

Department of Pediatrics, Dr. Sami Ulus Maternity and Children's Health and Diseases Training and Research Hospital, Ankara, Turkey.

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http://dx.doi.org/10.1007/s12098-019-03174-1DOI Listing
March 2020

A rare cause of delayed puberty in two cases with 46,XX and 46,XY karyotype: 17 α-hydroxylase deficiency due to a novel variant in gene.

Gynecol Endocrinol 2020 Aug 30;36(8):739-742. Epub 2019 Dec 30.

Department of Pediatric Endocrinology, Dicle University Medical Faculty, Diyarbakir, Turkey.

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http://dx.doi.org/10.1080/09513590.2019.1707798DOI Listing
August 2020

A rare case of primary coenzyme Q10 deficiency due to COQ9 mutation.

J Pediatr Endocrinol Metab 2020 Jan;33(1):165-170

Gazi University Hospital, Department of Pediatric Metabolism and Nutrition, Ankara, Turkey.

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http://dx.doi.org/10.1515/jpem-2019-0245DOI Listing
January 2020

Clinical findings in five Turkish patients with citrin deficiency and identification of a novel mutation on SLC25A13.

J Pediatr Endocrinol Metab 2020 Jan;33(1):157-163

Behçet Uz Children Training and Research Hospital, Pediatric Allergy and Immunology Department, Izmir, Istanbul, Turkey.

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http://dx.doi.org/10.1515/jpem-2019-0377DOI Listing
January 2020

A novel mutation in the GP1BA gene in Bernard-Soulier syndrome.

Blood Coagul Fibrinolysis 2020 Jan;31(1):83-86

Division of Pediatric Hematology/Oncology, Department of Pediatrics, Eskişehir Osmangazi University Faculty of Medicine, Eskişehir.

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http://dx.doi.org/10.1097/MBC.0000000000000868DOI Listing
January 2020

Early-onset progressive encephalopathy associated with NAXE gene variants: a case report of a Turkish child.

Acta Neurol Belg 2020 Jun 22;120(3):733-735. Epub 2019 Nov 22.

InterGen Genetic Research Centre, Ankara, Turkey.

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http://dx.doi.org/10.1007/s13760-019-01242-zDOI Listing
June 2020

Hypokalemia and hearing loss in a 3-year-old boy: Answers.

Pediatr Nephrol 2020 Apr 30;35(4):617-618. Epub 2019 Oct 30.

Department of Pediatric Nephrology, Ankara Child Health and Diseases Hematology Oncology Training and Research Hospital, University of Health Sciences, Ankara, Turkey.

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http://dx.doi.org/10.1007/s00467-019-04383-8DOI Listing
April 2020

Hypokalemia and hearing loss in a 3-year-old boy: Questions.

Pediatr Nephrol 2020 Apr 30;35(4):615. Epub 2019 Oct 30.

Department of Pediatric Nephrology, Ankara Child Health and Diseases Hematology Oncology Training and Research Hospital, University of Health Sciences, Ankara, Turkey.

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http://dx.doi.org/10.1007/s00467-019-04379-4DOI Listing
April 2020

Prenatal Diagnosis of Osteogenesis Imperfecta Type III.

J Obstet Gynaecol India 2019 Aug 22;69(4):374-376. Epub 2019 Apr 22.

1Obstetrics and Gynecology Unit, Kent Hospital, Kent Hastanesi, 8229/1 sok. No: 56 35630, Cigli, Izmir, Turkey.

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http://dx.doi.org/10.1007/s13224-019-01230-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661042PMC
August 2019

Analysis of TP53 gene in uterine myomas: No mutations but P72R polymorphism is associated with myoma development.

J Obstet Gynaecol Res 2019 Oct 29;45(10):2088-2094. Epub 2019 Jul 29.

Intergen Genetics Center, Ankara, Turkey.

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http://dx.doi.org/10.1111/jog.14071DOI Listing
October 2019

A rare structural myopathy: Nemaline myopathy.

Turk Pediatri Ars 2019 1;54(1):49-52. Epub 2019 Mar 1.

Division of Clinical Genetics, Intergen Genetics Center, Ankara, Turkey.

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http://dx.doi.org/10.5152/TurkPediatriArs.2018.4402DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6559969PMC
March 2019

A rare case of prolidase deficiency with situs inversus totalis, identified by a novel mutation in the gene.

JAAD Case Rep 2019 May 7;5(5):436-438. Epub 2019 May 7.

Department of Dermatology, Ankara Training and Research Hospital, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.jdcr.2019.03.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6510937PMC
May 2019

Mild hypotonia and recurrent seizures in an 8-month-old boy: Answers.

Pediatr Nephrol 2019 10 22;34(10):1729-1731. Epub 2019 Mar 22.

Faculty of Medicine, Department of Pediatric Neurology, Ankara Yıldırım Beyazıt University, Ankara, Turkey.

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http://link.springer.com/10.1007/s00467-019-04236-4
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http://dx.doi.org/10.1007/s00467-019-04236-4DOI Listing
October 2019

Mild hypotonia and recurrent seizures in an 8-month-old boy: Questions.

Pediatr Nephrol 2019 10 22;34(10):1727-1728. Epub 2019 Mar 22.

Faculty of Medicine, Department of Pediatric Neurology, Ankara Yıldırım Beyazıt University, Ankara, Turkey.

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http://dx.doi.org/10.1007/s00467-019-04231-9DOI Listing
October 2019

Clinical, Histochemical, and Molecular Study of Three Turkish Siblings Diagnosed with H Syndrome, and Literature Review.

Horm Res Paediatr 2019 9;91(5):346-355. Epub 2019 Jan 9.

Department of Paediatric Allergy and Immunology, Eskisehir Osmangazi University School of Medicine, Eskisehir, Turkey.

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https://www.karger.com/Article/FullText/495190
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http://dx.doi.org/10.1159/000495190DOI Listing
February 2020

Novel mutation in MASP1 gene in a new family with 3MC syndrome.

Clin Dysmorphol 2019 Apr;28(2):91-93

Department of Medical Genetics, Intergen Genetic Center, Ankara, Turkey.

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http://dx.doi.org/10.1097/MCD.0000000000000256DOI Listing
April 2019

Association of vitamin D receptor gene polymorphisms with osteosarcoma risk and prognosis.

J Bone Oncol 2019 Feb 30;14:100208. Epub 2018 Nov 30.

A.Y. Ankara Oncology Training and Research Hospital, Sağlık Bilimleri University, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.jbo.2018.100208DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6289937PMC
February 2019

A Very Rare Etiology of Hypotonia and Seizures: Congenital Glutamine Synthetase Deficiency.

Neuropediatrics 2019 02 15;50(1):51-53. Epub 2018 Nov 15.

Division of Pediatric Neurology, Lösante Children's and Adult Hospital, Gölbaşı, Ankara, Turkey.

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0038-1675637
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http://dx.doi.org/10.1055/s-0038-1675637DOI Listing
February 2019

A rare cause of fever of unknown origin: hypohidrotic ectodermal dysplasia with a splice site mutation.

Minerva Pediatr 2018 10;70(5):493-495

Department of Pediatrics, Dr. Sami Ulus Maternity and Children's Health and Diseases Training and Research Hospital, Ankara, Turkey.

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https://www.minervamedica.it/index2.php?show=R15Y2018N05A049
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http://dx.doi.org/10.23736/S0026-4946.17.04817-4DOI Listing
October 2018

Identification of a New Mutation Underlying Regressive Episodic Ataxia Type I.

Front Neurol 2018 25;9:587. Epub 2018 Jul 25.

Department of Physiology and Biochemistry, Faculty of Medicine and Surgery, University of Malta, Msida, Malta.

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http://dx.doi.org/10.3389/fneur.2018.00587DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6094999PMC
July 2018

A Case of Shwachman-Diamond Syndrome who Presented with Hypotonia.

J Pediatr Genet 2018 Sep 7;7(3):117-121. Epub 2018 Mar 7.

Department of Pediatric Neurology, Başkent University Hospital, Beşevler-Çankaya, Ankara, Turkey.

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http://dx.doi.org/10.1055/s-0038-1636997DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6087479PMC
September 2018

A Novel Homozygous Gene Mutation: Aromatase Deficiency Mimicking Congenital Adrenal Hyperplasia in an Infant without Obvious Maternal Virilisation

J Clin Res Pediatr Endocrinol 2019 05 3;11(2):196-201. Epub 2018 Aug 3.

Intergen Genetic Centre, Medical Geneticist, Ankara, Turkey

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http://dx.doi.org/10.4274/jcrpe.galenos.2018.2018.0140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6571529PMC
May 2019

The Second Case of Saposin A Deficiency and Altered Autophagy.

JIMD Rep 2019 12;44:43-54. Epub 2018 Jul 12.

Molecular Biology and Genetics, Izmir Institute of Technology, Izmir, Turkey.

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http://dx.doi.org/10.1007/8904_2018_114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323030PMC
July 2018

A rare mutation in the EPG5 gene causes Vici syndrome.

Clin Dysmorphol 2018 Oct;27(4):145-147

Department of Medical Biology and Genetics, Medical Faculty, Inonu University, Malatya.

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http://dx.doi.org/10.1097/MCD.0000000000000233DOI Listing
October 2018

Nonketotic hyperglycinemia: Clinical range and outcome of a rare neurometabolic disease in a single-center.

Brain Dev 2018 Nov 19;40(10):865-875. Epub 2018 Jun 19.

Hacettepe University of Faculty of Medicine, Radiology Department, Neuroradiology Division, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.braindev.2018.06.007DOI Listing
November 2018

Four Gaucher disease type II patients with three novel mutations: a single centre experience from Turkey.

Metab Brain Dis 2018 08 14;33(4):1223-1227. Epub 2018 Apr 14.

Department of Pediatrics, Division of Metabolism and Nutrition, Çukurova University Medical Faculty, Adana, Turkey.

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http://dx.doi.org/10.1007/s11011-018-0236-0DOI Listing
August 2018

MaFOS-GDM trial: Maternal fish oil supplementation in women with gestational diabetes and cord blood DNA methylation at insulin like growth factor-1 (IGF-1) gene.

Clin Nutr ESPEN 2018 02 30;23:73-78. Epub 2017 Dec 30.

Department of Neonatology, Dr Sami Ulus Maternity and Children Research and Training Hospital, University of Health Sciences, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.clnesp.2017.12.006DOI Listing
February 2018

An infant with glutaric aciduria type IIc diagnosed with a novel mutation.

Turk J Pediatr 2017 ;59(3):315-317

Intergen Genetic Center, Ankara, Turkey.

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http://dx.doi.org/10.24953/turkjped.2017.03.013DOI Listing
December 2018

p.Val452Ile mutation of the SLC25A13 gene in a Turkish patient with citrin deficiency.

Turk J Pediatr 2017 ;59(3):311-314

Divisions of Pediatric Metabolism, Çukurova University Faculty of Medicine Adana, Turkey.

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http://dx.doi.org/10.24953/turkjped.2017.03.012DOI Listing
December 2018

A case of Riley Ruvalcaba syndrome with a novel PTEN mutation accompanied by diffuse testicular microlithiasis and precocious puberty.

J Pediatr Endocrinol Metab 2018 Jan;31(1):95-99

Medical Genetics, İntergen Genetic Center, Ankara, Turkey.

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http://dx.doi.org/10.1515/jpem-2017-0250DOI Listing
January 2018

Monogenic Diabetes Not Caused By Mutations in Mody Genes: A Very Heterogenous Group of Diabetes.

Exp Clin Endocrinol Diabetes 2018 Nov 28;126(10):612-618. Epub 2017 Nov 28.

Department of Pediatric Endocrinology, Ankara University School of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.1055/s-0043-120571DOI Listing
November 2018

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

A novel frameshift mutation of malonyl-CoA decarboxylase deficiency: clinical signs and therapy response of a late-diagnosed case.

Clin Case Rep 2017 08 28;5(8):1284-1288. Epub 2017 Jun 28.

Department of Nutrition and Dietetics Istanbul Arel University Istanbul Turkey.

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http://dx.doi.org/10.1002/ccr3.1013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5538191PMC
August 2017

Lethal neonatal rigidity and multifocal seizure syndrome with a new mutation in BRAT1.

Epilepsy Behav Case Rep 2017 25;8:31-32. Epub 2017 May 25.

Intergen Genetic Diagnosis Center, Iran Caddesi, No:13/25, Cankaya, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.ebcr.2017.05.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5516089PMC
May 2017

A Mutation in INSR in a Child Presenting with Severe Acanthosis Nigricans.

J Clin Res Pediatr Endocrinol 2017 Dec 30;9(4):371-374. Epub 2017 Jun 30.

Dokuz Eylül University Faculty of Medicine, Department of Pediatric Endocrinology, İzmir, Turkey.

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http://dx.doi.org/10.4274/jcrpe.4577DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5785646PMC
December 2017

Microcephaly and developmental delay caused by short-chain acyl-CoA dehydrogenase deficiency.

Turk J Pediatr 2017 ;59(6):708-710

Department of Pediatrics, Dr. Sami Ulus Children Hospital, 3Intergen Laboratory, Ankara, Turkey.

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http://dx.doi.org/10.24953/turkjped.2017.06.016DOI Listing
January 2017

Beta-ketothiolase deficiency: An unusual cause of recurrent ketoacidosis.

Turk J Pediatr 2017 ;59(4):471-474

Medical Geneticist, Intergen Genetics Centre, Ankara, Turkey.

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http://dx.doi.org/10.24953/turkjped.2017.04.016DOI Listing
December 2018

Delayed Diagnosis of a 17-Hydroxylase/17,20-Lyase Deficient Patient Presenting as a 46,XY Female: A Low Normal Potassium Level Can Be an Alerting Diagnostic Sign.

J Clin Res Pediatr Endocrinol 2017 Jun 23;9(2):163-167. Epub 2016 Dec 23.

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

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http://dx.doi.org/10.4274/jcrpe.3839DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5463290PMC
June 2017

Two Frameshift Mutations in MKRN3 in Turkish Patients with Familial Central Precocious Puberty.

Horm Res Paediatr 2017 1;87(6):405-411. Epub 2016 Nov 1.

Department of Paediatric Endocrinology, Eskisehir Osmangazi University School of Medicine, Eskisehir, Turkey.

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http://dx.doi.org/10.1159/000450923DOI Listing
April 2018

Congenital Glucose-Galactose Malabsorption in a Turkish Newborn: A Novel Mutation of Na+/Glucose Cotransporter Gene.

Dig Dis Sci 2017 01 25;62(1):280-281. Epub 2016 Oct 25.

Neonatal Intensive Care Unit, Zekai Tahir Burak Maternity Teaching Hospital, 06230, Altındağ, Ankara, Turkey.

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http://dx.doi.org/10.1007/s10620-016-4348-2DOI Listing
January 2017

A novel homozygous HOXB1 mutation in a Turkish family with hereditary congenital facial paresis.

Brain Dev 2017 Feb 15;39(2):166-170. Epub 2016 Sep 15.

Department of Medical Genetics, Intergen Laboratory, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.braindev.2016.09.002DOI Listing
February 2017

Rodriguez lethal acrofacial dysostosis syndrome with ambiguous genitalia.

Taiwan J Obstet Gynecol 2016 Aug;55(4):613-5

Intergen Genetics Centre, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.tjog.2016.06.011DOI Listing
August 2016

A Case of Vitamin D-Dependent Rickets Type 1A with a Novel Mutation in the Uzbek Population.

J Clin Res Pediatr Endocrinol 2016 12 29;8(4):484-489. Epub 2016 Jun 29.

İstanbul University Cerrahpaşa Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey, E-mail:

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http://dx.doi.org/10.4274/jcrpe.3128DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5198011PMC
December 2016

GNE Myopathy in Turkish Sisters with a Novel Homozygous Mutation.

Case Rep Neurol Med 2016 19;2016:8647645. Epub 2016 May 19.

Department of Neurology, Katip Çelebi University, Izmir, Turkey.

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http://dx.doi.org/10.1155/2016/8647645DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4889787PMC
June 2016

Excellent response to deep brain stimulation in a young girl with GNAO1-related progressive choreoathetosis.

Childs Nerv Syst 2016 Sep 9;32(9):1567-8. Epub 2016 Jun 9.

Department of Pediatrics, Division of Child Neurology, Ege University Medical Faculty, 35100, Bornova-Izmir, Turkey.

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http://dx.doi.org/10.1007/s00381-016-3139-6DOI Listing
September 2016

Cystinosis in Eastern Turkey.

J Pediatr Endocrinol Metab 2016 Aug;29(8):965-9

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http://dx.doi.org/10.1515/jpem-2014-0477DOI Listing
August 2016

Pyridoxine-dependent epilepsy in two Turkish patients in Turkey and review of the literature.

Turk J Pediatr 2015 Jul-Aug;57(4):394-397

Division of Pediatric Neurology, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana, Turkey.

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February 2017

Crouzonodermoskeletal Syndrome with Hypoplasia of Corpus Callosum and Inferior Vermis.

J Clin Res Pediatr Endocrinol 2016 Sep 16;8(3):373-4. Epub 2016 May 16.

Ankara Pediatric Hematology and Oncology Training and Research Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey, E-mail:

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http://dx.doi.org/10.4274/jcrpe.3343DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5096508PMC
September 2016

Merosin-negative congenital muscular dystrophy: Report of five cases.

J Pediatr Neurosci 2015 Oct-Dec;10(4):346-9

Department of Pediatrics, Division of Pediatric Neurology, Faculty of Medicine, Cukurova University, Adana, Turkey.

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http://dx.doi.org/10.4103/1817-1745.174432DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4770646PMC
March 2016

Combination of two different homozygote mutations in Pompe disease.

Pediatr Int 2016 Mar;58(3):241-3

Department of Pediatrics, Kayseri Education and Research Hospital, Kayseri, Turkey.

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http://dx.doi.org/10.1111/ped.12873DOI Listing
March 2016

Early-Onset Mild Type Leukoencephalopathy Caused by a Homozygous EARS2 Mutation.

J Child Neurol 2016 06 18;31(7):938-41. Epub 2016 Feb 18.

Department of Epilepsy and Clinical Neurophysiology, Boston Children‖s Hospital, Boston, MA, USA.

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http://dx.doi.org/10.1177/0883073816630087DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6020828PMC
June 2016

Testotoxicosis: Report of Two Cases, One with a Novel Mutation in LHCGR Gene.

J Clin Res Pediatr Endocrinol 2015 Sep;7(3):242-8

İstanbul University Cerrahpaşa Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey Phone: +90 212 414 30 00 E-mail:

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http://dx.doi.org/10.4274/jcrpe.2067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4677562PMC
September 2015

Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis.

J Clin Res Pediatr Endocrinol 2016 Mar 18;8(1):105-6. Epub 2015 Dec 18.

Ankara Pediatric Hematology and Oncology Training and Research Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey, E-mail:

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http://dx.doi.org/10.4274/jcrpe.2686DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4805041PMC
March 2016

Turkish cases of early infantile epileptic encephalopathy: two novel mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene.

Turk J Pediatr 2015 May-Jun;57(3):272-6

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

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August 2016

Vici syndrome in siblings born to consanguineous parents.

Am J Med Genet A 2016 Jan 23;170A(1):220-5. Epub 2015 Sep 23.

Department of Medical Genetics, Ataturk University, Erzurum, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.37398DOI Listing
January 2016

X-linked adrenoleukodystrophy in a 6-year-old boy initially presenting with psychiatric symptoms.

Turk J Pediatr 2014 Nov-Dec;56(6):651-3

Divisions of Pediatric Neurology, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana, Turkey.

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March 2016

Unilateral Ectrodactyly in a Newborn with Trisomy 18 Syndrome: An Unusual Association.

J Coll Physicians Surg Pak 2015 Aug;25(8):619-20

Department of Pediatrics, Kecioren Education and Research Hospital, Ankara, Turkey.

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http://dx.doi.org/08.2015/JCPSP.619620DOI Listing
August 2015

Mitochondrial Membrane Protein-Associated Neurodegeneration.

Pediatr Neurol 2015 Oct 21;53(4):373-4. Epub 2015 Jun 21.

Intergen Genetics Center, Iran Caddesi, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.pediatrneurol.2015.06.012DOI Listing
October 2015

Stimulus-induced myoclonus treated effectively with clonazepam in genetically confirmed Coffin-Lowry syndrome.

Epilepsy Behav Case Rep 2014 25;2:196-8. Epub 2014 Nov 25.

Department of Pediatric Neurology, Medipol University Medical School of Medicine, Istanbul, Turkey.

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http://dx.doi.org/10.1016/j.ebcr.2014.09.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4308038PMC
February 2015

Giant axonal disease: Report of eight cases.

Brain Dev 2015 Sep 19;37(8):803-7. Epub 2014 Dec 19.

Division of Pediatric Neurology, Department of Pediatrics, Cukurova University Faculty of Medicine, Adana, Turkey.

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http://dx.doi.org/10.1016/j.braindev.2014.12.002DOI Listing
September 2015