Archives - Journal of Clinical Research ın Pediatric Endocrinology

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The Usage of Genetic Technologies in Endocrine DiseasesPDF Article

Ferda Özkınay

Diabetes from the Clinician PerspectivePDF Article

Şevki Çetinkalp

Approach to Monogenic DiabetesPDF Article

Diabetes and Our GenesPDF Article

Endocrine Disrupters and EpigeneticsPDF Article

Özgür Çoğulu

Vitamin D in Sickness and HealthPDF Article

Zeliha Hekimsoy

Clinical Approach to Thyroid Cancer and NodulesPDF Article

Mehmet Erdoğan

Genetic Approach to Thyroid Nodules and CancerPDF Article

Difficulties in the Clinical Approach to Disorders of Sexual Development: Role of the Genes in the ApproachPDF Article

Merih Berberoğlu

Genetic Mechanisms of Sex Development and New ApproachesPDF Article

Hatice Ilgın Ruhi

Clinical and Genetic Approach to LipodystrophiesPDF Article

Barış Akıncı

A Pediatric Case with Congenital Generalized LipodystrophyPDF Article

Familial AcromegalyPDF Article

Genetics in Pituitary Short StaturePDF Article

Clinical and Genetics Approaches to Hypogonadotropic HypogonadismPDF Article

Ali Kemal Topaloğlu

Clinical Findings of OsteoporosisPDF Article

Genetic Approach to OsteoporosisPDF Article

A Case of Dyskeratosis Congenita Associated with Hypothyroidism and HypogonadismPDF Article

Nilüfer Özdemir Kutbay

Banu Sarer Yürekli

Mehmet Erdoğan

Şevki Çetinkalp

Gülsen Kandiloğlu

A. Gökhan Özgen

Ferda Özkınay

L. Füsun Saygılı

A Young Diabetic Case with Bloom SyndromePDF Article

Nilüfer Özdemir Kutbay

Banu Sarer Yürekli

Mehmet Erdoğan

Şevki Çetinkalp

Özgür Çoğulu

A. Gökhan Özgen

L. Füsun Saygılı

Melanocortin-4 Receptor Mutation and ObesityPDF Article

Ilgın Yıldırım Şimşir

Mehmet Erdoğan

A. Gökhan Özgen

L. Füsun Saygılı

Şükran Darcan

Candeğer Yılmaz

Şevki Çetinkalp

Multiple Endocrine Neoplasia Type 4 (MEN4) SyndromePDF Article

Ilgın Yıldırım Şimşir

Murat Sözbilen

Mehmet Erdoğan

Şevki Çetinkalp

L. Füsun Saygılı

Candeğer Yılmaz

A. Gökhan Özgen

Two Siblings with Congenital Hyperinsulinism - Homozygote and Heterozygote MutationPDF Article

Nursel Muratoğlu Şahin

Sibel Tulgar Kınık

Investigation of Genes That are Defined with New Generation Sequence Analysis in Children/Adolescents Followed with Maturity Onset Diabetes of the YoungPDF Article

Gönül Çatlı

Hüseyin Anıl Korkmaz

Ayça Altıncık

Ediz Yeşilkaya

Hale Ünver Tuhan

Sefa Kızıldağ

An Early Spontaneous Recovery in a Hyperinsulinemia and Hypoglycemia Case with a Recently Found Mutation on the Gene ABCC8PDF Article

Gönül Çatlı

The Case of Transient Neonatal Diabetes Mellitus Associated with 6q24PDF Article

Şükran Darcan

Olfactory Sulcus Hypoplasia Images in a Case of Kallmann SyndromePDF Article

Banu Sarer Yürekli

Nilüfer Özdemir Kutbay

Mehmet Erdoğan

Şevki Çetinkalp

A. Gökhan Özgen

Ferda Özkınay

L. Füsun Saygılı

A Novel Mutation in Deficiency of 11 ß-Hydroxylase: A Possible Association with Disease SeverityPDF Article

Nilüfer Özdemir Kutbay

Banu Sarer Yürekli

Ilgın Yıldırım Şimşir

Emine Kartal Baykan

Gökçen Ünal Kocabaş

Mehmet Erdoğan

Şevki Çetinkalp

A.Gökhan Özgen

L. Füsun Saygılı

A Case of Polyglandular Autoimmune Syndrome Type One with Hypercalcemia and HypotensionPDF Article

Nilüfer Özdemir Kutbay

Banu Sarer Yürekli

Mehmet Erdoğan

Şevki Çetinkalp

L. Füsun Saygılı

Şükran Darcan

A. Gökhan Özgen

Features of Nine Adult Cases of Osteogenesis ImperfectaPDF Article

Nilüfer Özdemir Kutbay

Banu Sarer Yürekli

Mehmet Erdoğan

Şevki Çetinkalp

A. Gökhan Özgen

L. Füsun Saygılı

Heterozygous AGPAT2 Mutation, Diabetes, and Lipodystrophy in ExtremitiesPDF Article

Ilgın Yıldırım Şimşir

Barış Akıncı

Mehmet Erdoğan

Şevki Çetinkalp

A. Gökhan Özgen

Candeğer Yılmaz

L. Füsun Saygılı

A Long Follow-Up of a Juvenile Case with Adrenal Cortical and Medullary HyperplasiaPDF Article

Havva Nur Peltek Kendirci

Elena Belyavskaya

Constantine Astratakis

Application of Next-Generation Sequencing Technology for CFTR Mutation ScreeningPDF Article

Ülfet Vatansever

A Hypogonadotropic Hypogonadism Case as a Consequence of GNRHR MutationPDF Article

Nurullah Çelik

Hamdi Cihan Emeksiz

Ali Kemal Topaloğlu

A New Mutation on the SFR1 (NR5A1) Gene in a 46 XY Sexual Development Disorder Case without the Adrenal DeficiencyPDF Article

Gönül Çatlı

Hale Ünver Tuhan

Mozaic Turner Syndrome and Precocious Puberty Association: A Three-Year-Old PatientPDF Article

Pınar Kiper Mısırlıoğlu

A Rare GCMB Gene Mutation in an Isolated Hypoparathyroidism CasePDF Article

Ferda Özkınay

An Obese Case with Homozygous Leptin Receptor MutationPDF Article

Johanne Le Bihan

Karine Clément

Magnetic Resonance Imaging Characteristics of a Dunnigan-Type Familial Partial Lipodystrophy PatientPDF Article

Nilüfer Özdemir Kutbay

Banu Sarer Yürekli

Barış Akıncı

Mehmet Erdoğan

Şevki Çetinkalp

A. Gökhan Özgen

L. Füsun Saygılı

A Case of Hypocalciuric Hypercalcemia Accompanying Cystic FibrosisPDF Article

Sevil Arı Yuca

Neonatal Diabetes Mellitus due to a Novel Mutation in the GATA6 Gene Accompanying Renal Dysfunction: A Case ReportPDF Article

Hale Ünver Tuhan

Gönül Çatlı

Mehmet Türkmen

Genetic Analysis of Lipodystrophies and Recently Found MutationsPDF Article

Barış Akıncı

The Role of Adiponectin During Placental Development in Streptozotocin-Induced RatsPDF Article

Dijle Kipmen Korgun

Ayşegül Erdoğan

Emin Turkay Korgun

Investigation of CYP21A2 Gene Variants in Patients Pre-diagnosed with Congenital Adrenal HyperplasiaPDF Article

Havva Nur Peltek Kendirci

46,XY Complete Gonadal Dysgenesis: A Case ReportPDF Article

Hüseyin Anıl Korkmaz

Özlem Nalbantoğlu Elmas

Screening of PROP-1, LHX2, and POU1F1 Mutations in Patients with Ectopic Posterior Pituitary GlandPDF Article

Hüseyin Anıl Korkmaz

Utku Karaarslan

Vatan Barışık

Emine Sevcan Ata

The Possible Role of Mitochondrial Uncoupling Protein 2 (UCP2) Gene on the Development of Metabolic Syndrome and Platelet Count in Obese Children/Adolescents - A Preliminary StudyPDF Article

Nilgün Çöl Araz

Sibel Oğuzkan Balcı

Sacide Pehlivan

Wolfram (DIDMOAD) Syndrome - Report of Two SiblingsPDF Article

Sibel Tulgar Kınık

VDR Gene Analysis of Four Patients with Hereditary 1,25 Dihydroxyvitamin D-Resistant RicketsPDF Article

Esra Deniz Papatya Çakır

Özgür Aldemir

Seyit Ahmet Uçaktürk

A Case of Odontohypophosphatasia and Family InvestigationPDF Article

Esra Deniz Papatya Çakır

Seyit Ahmet Uçaktürk

Two Siblings with Mutation in the Leptin Receptor GenePDF Article

Bülent Hacıhamdioğlu

Naseebullah Kakar

Duygu Hacıhamdioğlu

Ferhan Karademir

Selami Süleymanoğlu

Investigation of BRAF Hotspot Mutations in Papillary Thyroid Tumor SamplesPDF Article

Sibel Güldiken

Abdominal Obesity May Be Caused by Increasing Cortisol Levels with AgePDF Article

Cüneyt Müderrisoğlu

Esma Altunoğlu

Wolfram Syndrome: Presentation of Two Cases with Type One and Type Two Diabetes MellitusPDF Article

Gülşah Y. Yalın

Sirhan Emiksiyev

Seher Tanrıkulu

Ayşe Kubat Üzüm

A Case of Pycnodysostosis with Bilateral Choanal AtresiaPDF Article

Ceren Damla Durmaz

Ömer Suat Fitöz

Hatice Ilgın Ruhi

H Syndrome: A Rare Monogenic Cause of Insulin-Dependent Diabetes MellitusPDF Article

Vered Molho-Pessach

Abraham Zlotogorski

Abdullah Bereket

Three Male Cases with Isodicentric Y Chromosome Mosaicism Including 45,X Cell LinePDF Article

Hatice Ilgın Ruhi

Microcephalic Osteodysplastic Primordial Dwarfism Type TwoPDF Article

Pınar İşgüven

Nursel Elçioğlu

Central Precocious Puberty in a Patient with Multiple Pituitary Hormone Deficiency Due to POU1F1 (PIT1) Gene MutationPDF Article

Zehra Yavaş Abalı

Şükran Poyrazoğlu

Rüveyde Bundak

Feyza Darendeliler

A Rare Presentation of Friedreich’s Ataxia in Pediatric Case: Diabetes MellitusPDF Article

Dilşad Türkdoğan

Abdullah Bereket

Hypoparathyroidism-Deafness-Renal Disease Syndrome: The First Case Report from TurkeyPDF Article

Ayşe Sena Dönmez

Thyroid Hemiagenesis: A Case ReportPDF Article

Belma Haliloğlu

Prevalence and Molecular Characteristics of Y Chromosome Microdeletions in Infertile Males: A Single-Center StudyPDF Article

Ayşe Nur Kavasoğlu

Ferda Özkınay

A Further Case of Hajdu-Cheney Syndrome Having a Novel Mutation in the NOTCH2 GenePDF Article

Ayşe Nur Kavasoğlu

Ferda Özkınay

A Case with Acrodysostosis and Hormone ResistancePDF Article

Korcan Demircan Sezer

Özgür Kırbıyık

Özlem Nalbantoğlu Elmas

Hüseyin Anıl Korkmaz

A Case of Thyroid Hormone ResistancePDF Article

Ruken Yıldırım

Yusuf Kenan Haspolat

Genetic Diagnosis Using Whole Exome Analysis in Two Cases with Malignant Infantile OsteopetrosisPDF Article

Özlem Nalbantoğlu Elmas

Hüseyin Anıl Korkmaz

Tamoxifen Treatment for Pubertal Gynecomastia in a Patient with Partial Androgen Insensitivity SyndromePDF Article

Zeynep Şıklar

Hatice Ilgın Ruhi

Emine Çamtosun

Merih Berberoğlu

A Case of Mosaic 45,X/46,XY Infertile Man with an AZF DeletionPDF Article

Pelin Taşdemir

Özgür Balasar

Genetic Analysis in Our Cases with Thyroid DysgenesisPDF Article

Filiz Mine Çizmecioğlu

Gül Yeşiltepe Mutlu

Ayşegül Yüksel

A Case of Type 1 Diabetes Mellitus with Klinefelter’s SyndromePDF Article

Sibel Tulgar Kınık

A Rare Genetic Disorder: Partial Trisomy on Chromosome 21PDF Article

Gül Yeşiltepe Mutlu

Heves Kırmızıbekmez

Arda Çetinkaya

An Infantile Hypophosphatasia Patient with a Homozygous Mutation in the ALPS GenePDF Article

Banu Güzel Nur

Erdoğan Soyuçen

A Case of Achondrogenesis Type 2/Hypochondrogenesis Due to a De Novo Mutation in the COL2A1 GenePDF Article

Gönül Çatlı

Hale Ünver Tuhan

Niema A. İbrahim

Fowzan Sami Alkuraya

Seven Cases of Williams-Beuren Syndrome: Endocrine Evaluation and Long-Term Follow-UpPDF Article

Multiple Pituitary Hormone Deficiency Associated with Pituitary Hyperplasia: A Case ReportPDF Article

Mikayir Genenş

Zehra Yavaş Abalı

Şükran Poyrazoğlu

Rüveyde Bundak

Feyza Darendeliler

Phenotype-Genotype Correlations in Bardet-Biedl Syndrome Patients with Molecular AnalysisPDF Article

Aslı Ece Solmaz

Meltem Cerrah Güneş

Özge Özalp Yüreğir

Veysel Nijat Baş

Özgür Kırbıyık

Osteogenesis Imperfecta Presenting with Fractures in Pregnancy or Lactation Period: Report of Three CasesPDF Article

Seher Tanrıkulu

Gülşah Yenidünya Yalın

Özlem Soyluk Selçukbiricik

Ayşe Kubat Üzüm

Crouzon Syndrome with Hypoplasia of Corpus Callosum and Inferior VermisPDF Article

Serdar Ceylaner

Ali Kemal Topaloğlu

Coexistence of Kabuki Syndrome and Autoimmune ThyroiditisPDF Article

Özge Özalp Yüreğir

Serdar Ceylaner

Ali Kemal Topaloğlu

Complete Androgen Insensitivity Syndrome; the Importance of Family ScreeningPDF Article

Ruken Yıldırım

Yusuf Kenan Haspolat

Didem Helvacıoğlu

Wolcott-Rallison SyndromePDF Article

Ali Kemal Topaloğlu

Different Genotypes in Prader-Willi SyndromePDF Article

Yasemin Kendir Demirkol

Gülşen Akay Tayfun

Huriye Nursel Elçioğlu

Severe Congenital Insulin Resistance Syndrome Due to a Compound Heterozygous c.836G>A & c.1268+2T>A Mutation in Insulin Receptor (INSR) GenePDF Article

Emregül ışık

Hüseyin Demirbilek

Kevin Colclough

Successful Transfer from Insulin to Oral Sulphonylurea in an Infant and His Mother with Monogenic Diabetes Due to a Heterozygous Missense Mutation in the ABCC8 GenePDF Article

Mehmet Nuri Özbek

Hüseyin Demirbilek

Sibel Tanrıverdi

Ved Bhushan Arya

Sarah E. Flanagan

Efficacy and Safety of Sirolimus (mTOR Inhibitor) in Two Patients with Diazoxide-Unresponsive Hyperinsulinemic HypoglycemiaPDF Article

Gülay Can Yılmaz

Hüseyin Demirbilek

Sarah E. Flanagan

A Preliminary Study of the Possible Role of Cannabinoid Receptor-1 (CNR1) Gene Polymorphisms in the Development of Morbid Obesity in Obese ChildrenPDF Article

Nilgün Çöl Araz

Sibel Oğuzkan Balcı

Sacide Pehlivan

Growth Hormone Treatment in an Adolescent with PycnodysostosisPDF Article

Gülay Can Yılmaz

Genotype-Phenotype Correlation of Congenital Adrenal Hyperplasia Cases Having Complex (Multiple) Mutation Detected in CYP21A2 GenePDF Article

Hüseyin Anıl Korkmaz

Şükran Darcan

Ferda Özkınay

Four Cases of SCD (Jarcho-Levin Syndrome) Presenting with Short StaturePDF Article

Gülşen Akay Tayfun

Huriye Nursel Elçioğlu

A Case with Infantile-Onset Pancytopenia and Hyperglycemia Associated with SLC19A2 MutationPDF Article

Nagehan Katipoğlu

Tuba Hilkay Karapınar

Sultan Aydın Köker

Özlem Nalbantoğlu

Hüseyin Anıl Korkmaz

Genetic Analysis of Lipodystrophies and Novel MutationsPDF Article

Barış Akıncı

RET Mutation Spectrum in Turkish Cases with Medullary Thyroid Carcinoma: Definition of a Novel K710R MutationPDF Article

İsmihan Merve Tekin

Mehmet Erdoğan

Ferda Özkınay

Genotype-Phenotype Correlation and Follow-Up Features in Cases with Congenital Hyperinsulinism (CHI)PDF Article

Özge Altun Köroğlu

Şükran Darcan

Chromosomal Abnormalities in 344 Patients who Were Referred to Cytogenetics Laboratory with Pre-Diagnosis of Short Stature, Turner Syndrome and Sex Developmental DisordersPDF Article

Afrooz Rashnonejad

İsmihan Merve Tekin

Özgür Çoğulu

Şükran Darcan

Ferda Özkınay

Familial Partial Lipodystrophy Linked to aNovel Peroxisome Proliferator-Activated Receptor -? (PPARG) Mutation, H449LPDF Article

David B. Savage

Ayşe Kubat Kuruüzüm

Şenay Savaş Erdeve

Barış Akıncı

A Family with Multiple Endocrine Neoplasia Type 2A: Importance of Early Prophylactic ThyroidectomyPDF Article

Gönül Çatlı

Cemil Koçyiğit

Bumin Nuri Dündar