Volume 7, Issue 2 (Supplement)

September 2015
(96) Other, (1) Editorial

Cover

Cover Page


Editorial

Editorial
  • Candeğer Yılmaz
J Clin Res Pediatr Endocrinol 2015; 7: 0-0

Other

The Usage of Genetic Technologies in Endocrine Diseases
  • Ferda Özkınay
J Clin Res Pediatr Endocrinol 2015; 7: 23-23
Diabetes from the Clinician Perspective
  • Şevki Çetinkalp
J Clin Res Pediatr Endocrinol 2015; 7: 24-24
Diabetes and Our Genes
  • Hüseyin Onay
J Clin Res Pediatr Endocrinol 2015; 7: 25-25
Approach to Monogenic Diabetes
  • Damla Gökşen
J Clin Res Pediatr Endocrinol 2015; 7: 25-25
Endocrine Disrupters and Epigenetics
  • Özgür Çoğulu
J Clin Res Pediatr Endocrinol 2015; 7: 26-27
Vitamin D in Sickness and Health
  • Zeliha Hekimsoy
J Clin Res Pediatr Endocrinol 2015; 7: 27-28
Clinical Approach to Thyroid Cancer and Nodules
  • Mehmet Erdoğan
J Clin Res Pediatr Endocrinol 2015; 7: 29-29
Genetic Approach to Thyroid Nodules and Cancer
  • Ajlan Tükün
J Clin Res Pediatr Endocrinol 2015; 7: 30-30
Genetic Mechanisms of Sex Development and New Approaches
  • Hatice Ilgın Ruhi
J Clin Res Pediatr Endocrinol 2015; 7: 31-31
Difficulties in the Clinical Approach to Disorders of Sexual Development: Role of the Genes in the Approach
  • Merih Berberoğlu
J Clin Res Pediatr Endocrinol 2015; 7: 31-31
Clinical and Genetic Approach to Lipodystrophies
  • Barış Akıncı
J Clin Res Pediatr Endocrinol 2015; 7: 32-32
A Pediatric Case with Congenital Generalized Lipodystrophy
  • Samim Özen
J Clin Res Pediatr Endocrinol 2015; 7: 33-33
Familial Acromegaly
  • Sema Yarman
J Clin Res Pediatr Endocrinol 2015; 7: 34-34
Clinical and Genetics Approaches to Hypogonadotropic Hypogonadism
  • Ali Kemal Topaloğlu
J Clin Res Pediatr Endocrinol 2015; 7: 35-35
Genetics in Pituitary Short Stature
  • Z. Oya Uyguner
J Clin Res Pediatr Endocrinol 2015; 7: 35-37
Clinical Findings of Osteoporosis
  • Refik Tanakol
J Clin Res Pediatr Endocrinol 2015; 7: 37-39
Genetic Approach to Osteoporosis
  • Yasemin Alanay
J Clin Res Pediatr Endocrinol 2015; 7: 40-40
A Young Diabetic Case with Bloom Syndrome
  • Nilüfer Özdemir Kutbay
  • Banu Sarer Yürekli
  • Mehmet Erdoğan
  • Şevki Çetinkalp
  • Özgür Çoğulu
  • A. Gökhan Özgen
  • L. Füsun Saygılı
J Clin Res Pediatr Endocrinol 2015; 7: 42-42
A Case of Dyskeratosis Congenita Associated with Hypothyroidism and Hypogonadism
  • Nilüfer Özdemir Kutbay
  • Zehra Erdemir
  • Banu Sarer Yürekli
  • Emin Karaca
  • Mehmet Erdoğan
  • Şevki Çetinkalp
  • Gülsen Kandiloğlu
  • A. Gökhan Özgen
  • Ferda Özkınay
  • L. Füsun Saygılı
J Clin Res Pediatr Endocrinol 2015; 7: 42-42
Melanocortin-4 Receptor Mutation and Obesity
  • Ilgın Yıldırım Şimşir
  • Samim Özen
  • Hüseyin Onay
  • Mehmet Erdoğan
  • Damla Gökşen
  • A. Gökhan Özgen
  • L. Füsun Saygılı
  • Şükran Darcan
  • Candeğer Yılmaz
  • Şevki Çetinkalp
J Clin Res Pediatr Endocrinol 2015; 7: 43-43
Multiple Endocrine Neoplasia Type 4 (MEN4) Syndrome
  • Ilgın Yıldırım Şimşir
  • Yeşim Ertan
  • Murat Sözbilen
  • Özer Makay
  • Mehmet Erdoğan
  • Şevki Çetinkalp
  • L. Füsun Saygılı
  • Candeğer Yılmaz
  • Afiğ Berdeli
  • A. Gökhan Özgen
J Clin Res Pediatr Endocrinol 2015; 7: 44-44
Two Siblings with Congenital Hyperinsulinism - Homozygote and Heterozygote Mutation
  • Nursel Muratoğlu Şahin
  • Sibel Tulgar Kınık
J Clin Res Pediatr Endocrinol 2015; 7: 45-45
Investigation of Genes That are Defined with New Generation Sequence Analysis in Children/Adolescents Followed with Maturity Onset Diabetes of the Young
  • Ahmet Anık
  • Gönül Çatlı
  • Ayhan Abacı
  • Hüseyin Anıl Korkmaz
  • Korcan Demir
  • Ayça Altıncık
  • Erkan Sarı
  • Ediz Yeşilkaya
  • Hale Ünver Tuhan
  • Behzat Özkan
  • Sefa Kızıldağ
  • Ece Böber
J Clin Res Pediatr Endocrinol 2015; 7: 46-46
An Early Spontaneous Recovery in a Hyperinsulinemia and Hypoglycemia Case with a Recently Found Mutation on the Gene ABCC8
  • Ahmet Anık
  • Tolga Ünüvar
  • Gönül Çatlı
  • Ayhan Abacı
  • Ece Böber
J Clin Res Pediatr Endocrinol 2015; 7: 47-47
The Case of Transient Neonatal Diabetes Mellitus Associated with 6q24
  • Damla Gökşen
  • Samim Özen
  • Nurhan Özcan
  • Özgün Uygur
  • Mehmet Yalan
  • Şükran Darcan
J Clin Res Pediatr Endocrinol 2015; 7: 48-48
Olfactory Sulcus Hypoplasia Images in a Case of Kallmann Syndrome
  • Banu Sarer Yürekli
  • Nilüfer Özdemir Kutbay
  • Emin Karaca
  • Mehmet Erdoğan
  • Şevki Çetinkalp
  • Ömer Kitiş
  • A. Gökhan Özgen
  • Ferda Özkınay
  • L. Füsun Saygılı
J Clin Res Pediatr Endocrinol 2015; 7: 49-49
A Novel Mutation in Deficiency of 11 ß-Hydroxylase: A Possible Association with Disease Severity
  • Nilüfer Özdemir Kutbay
  • Banu Sarer Yürekli
  • Ilgın Yıldırım Şimşir
  • Emine Kartal Baykan
  • Gökçen Ünal Kocabaş
  • Hüseyin Onay
  • Mehmet Erdoğan
  • Şevki Çetinkalp
  • A.Gökhan Özgen
  • L. Füsun Saygılı
J Clin Res Pediatr Endocrinol 2015; 7: 50-50
A Case of Polyglandular Autoimmune Syndrome Type One with Hypercalcemia and Hypotension
  • Nilüfer Özdemir Kutbay
  • Banu Sarer Yürekli
  • Miray Yaman
  • Mehmet Erdoğan
  • Şevki Çetinkalp
  • L. Füsun Saygılı
  • Şükran Darcan
  • A. Gökhan Özgen
J Clin Res Pediatr Endocrinol 2015; 7: 51-51
Features of Nine Adult Cases of Osteogenesis Imperfecta
  • Nilüfer Özdemir Kutbay
  • Banu Sarer Yürekli
  • Fatma Keklik
  • İlker Altun
  • Mehmet Erdoğan
  • Şevki Çetinkalp
  • A. Gökhan Özgen
  • Damla Gökşen
  • L. Füsun Saygılı
J Clin Res Pediatr Endocrinol 2015; 7: 52-52
Heterozygous AGPAT2 Mutation, Diabetes, and Lipodystrophy in Extremities
  • Ilgın Yıldırım Şimşir
  • Barış Akıncı
  • Hüseyin Onay
  • Mehmet Erdoğan
  • Şevki Çetinkalp
  • A. Gökhan Özgen
  • Candeğer Yılmaz
  • L. Füsun Saygılı
J Clin Res Pediatr Endocrinol 2015; 7: 53-53
A Long Follow-Up of a Juvenile Case with Adrenal Cortical and Medullary Hyperplasia
  • Havva Nur Peltek Kendirci
  • Zehra Aycan
  • Elena Belyavskaya
  • Constantine Astratakis
J Clin Res Pediatr Endocrinol 2015; 7: 54-54
Application of Next-Generation Sequencing Technology for CFTR Mutation Screening
  • Selma Ulusal
  • Hakan Gürkan
  • Güven Toksoy
  • Yasemin Özen
  • Ülfet Vatansever
  • Hilmi Tozkır
J Clin Res Pediatr Endocrinol 2015; 7: 55-55
A Hypogonadotropic Hypogonadism Case as a Consequence of GNRHR Mutation
  • Esra Döğer
  • Özge Yüce
  • Nurullah Çelik
  • Hamdi Cihan Emeksiz
  • Ali Kemal Topaloğlu
  • Aysun Bideci
J Clin Res Pediatr Endocrinol 2015; 7: 56-56
A New Mutation on the SFR1 (NR5A1) Gene in a 46 XY Sexual Development Disorder Case without the Adrenal Deficiency
  • Ahmet Anık
  • Gönül Çatlı
  • Ayhan Abacı
  • Hale Ünver Tuhan
  • Hüseyin Onay
  • Ayça Aykut
  • Ece Böber
J Clin Res Pediatr Endocrinol 2015; 7: 57-57
Mozaic Turner Syndrome and Precocious Puberty Association: A Three-Year-Old Patient
  • Özlem Sangün
  • Pınar Kiper Mısırlıoğlu
  • Tülün Savaş
J Clin Res Pediatr Endocrinol 2015; 7: 58-58
A Rare GCMB Gene Mutation in an Isolated Hypoparathyroidism Case
  • Biray Ertürk
  • Emin Karaca
  • Caroline Silce
  • Ferda Özkınay
J Clin Res Pediatr Endocrinol 2015; 7: 59-59
An Obese Case with Homozygous Leptin Receptor Mutation
  • Erdal Eren
  • Elif Söbü
  • Durmuş Doğan
  • Halil Sağlam
  • Johanne Le Bihan
  • Karine Clément
  • Ömer Tarım
J Clin Res Pediatr Endocrinol 2015; 7: 60-60
Magnetic Resonance Imaging Characteristics of a Dunnigan-Type Familial Partial Lipodystrophy Patient
  • Nilüfer Özdemir Kutbay
  • Banu Sarer Yürekli
  • Emin Karaca
  • Hüseyin Onay
  • Barış Akıncı
  • Mehmet Erdoğan
  • Şevki Çetinkalp
  • Mustafa Seçil
  • A. Gökhan Özgen
  • L. Füsun Saygılı
J Clin Res Pediatr Endocrinol 2015; 7: 61-61
A Case of Hypocalciuric Hypercalcemia Accompanying Cystic Fibrosis
  • Yaşar Şen
  • Sevil Arı Yuca
  • Fuat Buğrul
J Clin Res Pediatr Endocrinol 2015; 7: 62-62
Genetic Analysis of Lipodystrophies and Recently Found Mutations
  • Hüseyin Onay
  • Barış Akıncı
  • Tahir Atik
  • Tevfik Demir
  • Samim Özen
J Clin Res Pediatr Endocrinol 2015; 7: 63-63
Neonatal Diabetes Mellitus due to a Novel Mutation in the GATA6 Gene Accompanying Renal Dysfunction: A Case Report
  • Hale Ünver Tuhan
  • Gönül Çatlı
  • Ahmet Anık
  • Ayhan Abacı
  • Derya Özmen
  • Mehmet Türkmen
  • Ece Böber
J Clin Res Pediatr Endocrinol 2015; 7: 63-63
The Role of Adiponectin During Placental Development in Streptozotocin-Induced Rats
  • Dijle Kipmen Korgun
  • Zeynep Avcıl
  • Ayşegül Erdoğan
  • Gözde Ünek
  • Aslı Özmen
  • Emin Turkay Korgun
J Clin Res Pediatr Endocrinol 2015; 7: 64-64
Investigation of CYP21A2 Gene Variants in Patients Pre-diagnosed with Congenital Adrenal Hyperplasia
  • Hakan Gürkan
  • Havva Nur Peltek Kendirci
  • Damla Eker
  • Selma Ulusal
  • Hilmi Tozkır
J Clin Res Pediatr Endocrinol 2015; 7: 64-64
46,XY Complete Gonadal Dysgenesis: A Case Report
  • Hüseyin Anıl Korkmaz
  • Melek Yıldız
  • Filiz Hazan
  • Korcan Demir
  • Selma Tunç
  • Özlem Nalbantoğlu Elmas
  • Behzat Özkan
J Clin Res Pediatr Endocrinol 2015; 7: 65-65
Screening of PROP-1, LHX2, and POU1F1 Mutations in Patients with Ectopic Posterior Pituitary Gland
  • Hüseyin Anıl Korkmaz
  • Utku Karaarslan
  • Cenk Eraslan
  • Dinçer Atila
  • Filiz Hazan
  • Vatan Barışık
  • Emine Sevcan Ata
  • Özdal Etlik
  • Melek Yıldız
  • Behzat Özkan
J Clin Res Pediatr Endocrinol 2015; 7: 65-65
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 Study
  • Nilgün Çöl Araz
  • Sibel Oğuzkan Balcı
  • Muradiye Nacak
  • Ayşe Balat
  • Sacide Pehlivan
J Clin Res Pediatr Endocrinol 2015; 7: 66-66
Wolfram (DIDMOAD) Syndrome - Report of Two Siblings
  • Esra Özmen
  • Sibel Tulgar Kınık
J Clin Res Pediatr Endocrinol 2015; 7: 66-66
VDR Gene Analysis of Four Patients with Hereditary 1,25 Dihydroxyvitamin D-Resistant Rickets
  • Esra Deniz Papatya Çakır
  • Özgür Aldemir
  • Seyit Ahmet Uçaktürk
  • Erdal Eren
  • Samim Özen
J Clin Res Pediatr Endocrinol 2015; 7: 67-67
A Case of Odontohypophosphatasia and Family Investigation
  • Esra Deniz Papatya Çakır
  • Mehmet Türe
  • Halil Sağlam
  • Seyit Ahmet Uçaktürk
  • Şahin Erdöl
  • Erdal Eren
  • Tahsin Yakut
  • Ömer Tarım
J Clin Res Pediatr Endocrinol 2015; 7: 67-67
Two Siblings with Mutation in the Leptin Receptor Gene
  • Bülent Hacıhamdioğlu
  • Naseebullah Kakar
  • Duygu Hacıhamdioğlu
  • Ferhan Karademir
  • Selami Süleymanoğlu
  • Guntram Borck
J Clin Res Pediatr Endocrinol 2015; 7: 68-68
Investigation of BRAF Hotspot Mutations in Papillary Thyroid Tumor Samples
  • Hilmi Tozkır
  • Selma Ulusal
  • Hakan Gürkan
  • Sibel Güldiken
  • Bora Demirkan
  • Ebru Taştekin
  • Atakan Sezer
J Clin Res Pediatr Endocrinol 2015; 7: 68-68
Wolfram Syndrome: Presentation of Two Cases with Type One and Type Two Diabetes Mellitus
  • Gülşah Y. Yalın
  • Sirhan Emiksiyev
  • Seher Tanrıkulu
  • Ayşe Kubat Üzüm
  • Ferihan Aral
  • Refik Tanakol
  • İlhan Satman
J Clin Res Pediatr Endocrinol 2015; 7: 69-69
Abdominal Obesity May Be Caused by Increasing Cortisol Levels with Age
  • Mustafa Boz
  • Cüneyt Müderrisoğlu
  • Esma Altunoğlu
  • Feray Akbaş
  • Füsun Erdenen
  • Ceren Gürsal
  • Hayri Polat
J Clin Res Pediatr Endocrinol 2015; 7: 69-69
A Case of Pycnodysostosis with Bilateral Choanal Atresia
  • Ceren Damla Durmaz
  • Pınar Kocaay
  • Ömer Suat Fitöz
  • Hatice Ilgın Ruhi
J Clin Res Pediatr Endocrinol 2015; 7: 70-70
H Syndrome: A Rare Monogenic Cause of Insulin-Dependent Diabetes Mellitus
  • Saygın Abalı
  • Zeynep Atay
  • Serpil Baş
  • Sofia Babay
  • Vered Molho-Pessach
  • Abraham Zlotogorski
  • Abdullah Bereket
  • Serap Turan
J Clin Res Pediatr Endocrinol 2015; 7: 70-70
Three Male Cases with Isodicentric Y Chromosome Mosaicism Including 45,X Cell Line
  • Şule Altıner
  • Özlem Türedi
  • Hatice Ilgın Ruhi
J Clin Res Pediatr Endocrinol 2015; 7: 71-71
Microcephalic Osteodysplastic Primordial Dwarfism Type Two
  • Pınar İşgüven
  • Nursel Elçioğlu
J Clin Res Pediatr Endocrinol 2015; 7: 71-71
A Rare Presentation of Friedreich’s Ataxia in Pediatric Case: Diabetes Mellitus
  • Serpil Baş
  • Saygın Abalı
  • Zeynep Atay
  • Ziya Gurbanov
  • Sevda Çam
  • Dilşad Türkdoğan
  • Serap Turan
  • Abdullah Bereket
J Clin Res Pediatr Endocrinol 2015; 7: 72-72
Central Precocious Puberty in a Patient with Multiple Pituitary Hormone Deficiency Due to POU1F1 (PIT1) Gene Mutation
  • Zehra Yavaş Abalı
  • Şükran Poyrazoğlu
  • Firdevs Baş
  • Oya Uyguner
  • Güven Toksoy
  • Rüveyde Bundak
  • Nurçin Saka
  • Feyza Darendeliler
J Clin Res Pediatr Endocrinol 2015; 7: 72-72
Thyroid Hemiagenesis: A Case Report
  • Avnı Kaya
  • Belma Haliloğlu
  • Hasan Balık
J Clin Res Pediatr Endocrinol 2015; 7: 73-73
Hypoparathyroidism-Deafness-Renal Disease Syndrome: The First Case Report from Turkey
  • Hakan Döneray
  • Takeshi Usui
  • Avni Kaya
  • Ayşe Sena Dönmez
J Clin Res Pediatr Endocrinol 2015; 7: 73-73
A Further Case of Hajdu-Cheney Syndrome Having a Novel Mutation in the NOTCH2 Gene
  • Ayşe Nur Kavasoğlu
  • Hüseyin Onay
  • Mehmet Argın
  • Ferda Özkınay
J Clin Res Pediatr Endocrinol 2015; 7: 74-74
Prevalence and Molecular Characteristics of Y Chromosome Microdeletions in Infertile Males: A Single-Center Study
  • Ayşe Nur Kavasoğlu
  • Hüseyin Onay
  • Ayça Aykut
  • Burak Durmaz
  • Emin Karaca
  • Asude Durmaz
  • Ferda Özkınay
J Clin Res Pediatr Endocrinol 2015; 7: 74-74
A Case with Acrodysostosis and Hormone Resistance
  • Selma Tunç
  • Korcan Demircan Sezer
  • Filiz Hazan
  • Özgür Kırbıyık
  • Eren Soyaltın
  • Özlem Nalbantoğlu Elmas
  • Melek Yıldız
  • Hüseyin Anıl Korkmaz
  • Behzat Özkan
J Clin Res Pediatr Endocrinol 2015; 7: 75-75
A Case of Thyroid Hormone Resistance
  • Ruken Yıldırım
  • Yusuf Kenan Haspolat
  • Handan Deniz
  • Fırat Can
J Clin Res Pediatr Endocrinol 2015; 7: 75-75
Tamoxifen Treatment for Pubertal Gynecomastia in a Patient with Partial Androgen Insensitivity Syndrome
  • Pınar Kocaay
  • Zeynep Şıklar
  • Hatice Ilgın Ruhi
  • Emine Çamtosun
  • Ajlan Tükün
  • Merih Berberoğlu
J Clin Res Pediatr Endocrinol 2015; 7: 76-76
Genetic Diagnosis Using Whole Exome Analysis in Two Cases with Malignant Infantile Osteopetrosis
  • Korcan Demir
  • Özlem Nalbantoğlu Elmas
  • Kadri Karaer
  • Hüseyin Anıl Korkmaz
  • Melek Yıldız
  • Selma Tunç
  • Behzat Özkan
J Clin Res Pediatr Endocrinol 2015; 7: 76-76
Genetic Analysis in Our Cases with Thyroid Dysgenesis
  • Elif Özsu
  • Filiz Mine Çizmecioğlu
  • Gül Yeşiltepe Mutlu
  • Ayşegül Yüksel
  • Narumi Sotoshi
  • Şükrü Hatun
J Clin Res Pediatr Endocrinol 2015; 7: 77-77
A Case of Mosaic 45,X/46,XY Infertile Man with an AZF Deletion
  • Mine Balasar
  • Pelin Taşdemir
  • Özgür Balasar
  • Emine Göktaş
J Clin Res Pediatr Endocrinol 2015; 7: 77-77
A Rare Genetic Disorder: Partial Trisomy on Chromosome 21
  • Gül Yeşiltepe Mutlu
  • Hatip Aydın
  • Heves Kırmızıbekmez
  • Mahmut Doğru
  • Arda Çetinkaya
  • Ali Karaman
J Clin Res Pediatr Endocrinol 2015; 7: 78-78
A Case of Type 1 Diabetes Mellitus with Klinefelter’s Syndrome
  • Eren Er
  • Sibel Tulgar Kınık
J Clin Res Pediatr Endocrinol 2015; 7: 78-78
An Infantile Hypophosphatasia Patient with a Homozygous Mutation in the ALPS Gene
  • Banu Güzel Nur
  • Gamze Çelmeli
  • Erdoğan Soyuçen
  • Iffet Bircan
  • Ercan Mihçi
J Clin Res Pediatr Endocrinol 2015; 7: 79-79
A Case of Achondrogenesis Type 2/Hypochondrogenesis Due to a De Novo Mutation in the COL2A1 Gene
  • Gönül Çatlı
  • Ayhan Abacı
  • Ahmet Anık
  • Ranad Shaneen
  • Hale Ünver Tuhan
  • Derya Erçal
  • Ece Böber
  • Niema A. İbrahim
  • Mais O. Hashem
  • Fowzan Sami Alkuraya
J Clin Res Pediatr Endocrinol 2015; 7: 80-80
Seven Cases of Williams-Beuren Syndrome: Endocrine Evaluation and Long-Term Follow-Up
  • Ayla Güven
J Clin Res Pediatr Endocrinol 2015; 7: 80-80
Multiple Pituitary Hormone Deficiency Associated with Pituitary Hyperplasia: A Case Report
  • Mikayir Genenş
  • Neşe Akcan
  • Zehra Yavaş Abalı
  • Firdevs Baş
  • Oya Uyguner
  • Şükran Poyrazoğlu
  • Güven Toksoy
  • Rüveyde Bundak
  • Feyza Darendeliler
J Clin Res Pediatr Endocrinol 2015; 7: 81-81
Phenotype-Genotype Correlations in Bardet-Biedl Syndrome Patients with Molecular Analysis
  • Aslı Ece Solmaz
  • Hüseyin Onay
  • Tahir Atık
  • Ayça Aykut
  • Meltem Cerrah Güneş
  • Özge Özalp Yüreğir
  • Veysel Nijat Baş
  • Filiz Hazan
  • Özgür Kırbıyık
  • Ferda Özkinay
J Clin Res Pediatr Endocrinol 2015; 7: 82-82
Osteogenesis Imperfecta Presenting with Fractures in Pregnancy or Lactation Period: Report of Three Cases
  • Seher Tanrıkulu
  • Nurdan Gül
  • Gülşah Yenidünya Yalın
  • Sakin Tekin
  • Özlem Soyluk Selçukbiricik
  • Ayşe Kubat Üzüm
  • Ferihan Aral
  • Refik Tanakol
J Clin Res Pediatr Endocrinol 2015; 7: 82-82
Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis
  • Fatih Gürbüz
  • Özge Özalp Yüreğir
  • Serdar Ceylaner
  • Ali Kemal Topaloğlu
  • Bilgin Yüksel
J Clin Res Pediatr Endocrinol 2015; 7: 83-83
Crouzon Syndrome with Hypoplasia of Corpus Callosum and Inferior Vermis
  • Fatih Gürbüz
  • Serdar Ceylaner
  • Ali Kemal Topaloğlu
  • Bilgin Yüksel
J Clin Res Pediatr Endocrinol 2015; 7: 83-83
Wolcott-Rallison Syndrome
  • Fatih Gürbüz
  • Bilgin Yüksel
  • Ali Kemal Topaloğlu
J Clin Res Pediatr Endocrinol 2015; 7: 84-84
Complete Androgen Insensitivity Syndrome; the Importance of Family Screening
  • Ruken Yıldırım
  • Yusuf Kenan Haspolat
  • Didem Helvacıoğlu
J Clin Res Pediatr Endocrinol 2015; 7: 84-84
Severe Congenital Insulin Resistance Syndrome Due to a Compound Heterozygous c.836G>A & c.1268+2T>A Mutation in Insulin Receptor (INSR) Gene
  • Emregül ışık
  • Hüseyin Demirbilek
  • Kevin Colclough
  • Sian Ellard
J Clin Res Pediatr Endocrinol 2015; 7: 85-85
Different Genotypes in Prader-Willi Syndrome
  • Yasemin Kendir Demirkol
  • Gülşen Akay Tayfun
  • Huriye Nursel Elçioğlu
J Clin Res Pediatr Endocrinol 2015; 7: 85-85
Efficacy and Safety of Sirolimus (mTOR Inhibitor) in Two Patients with Diazoxide-Unresponsive Hyperinsulinemic Hypoglycemia
  • Cengiz Kara
  • Gülay Can Yılmaz
  • Hüseyin Demirbilek
  • Sarah E. Flanagan
  • Sian Ellard
  • Khalid Hussain
  • Murat Aydın
J Clin Res Pediatr Endocrinol 2015; 7: 86-86
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 Gene
  • Mehmet Nuri Özbek
  • Hüseyin Demirbilek
  • Sibel Tanrıverdi
  • Ved Bhushan Arya
  • Sarah E. Flanagan
  • Sian Ellard
  • Khalid Hussain
J Clin Res Pediatr Endocrinol 2015; 7: 86-86
Growth Hormone Treatment in an Adolescent with Pycnodysostosis
  • Gülay Can Yılmaz
  • Cengiz Kara
  • Hüseyin Onay
  • Murat Aydın
J Clin Res Pediatr Endocrinol 2015; 7: 87-87
A Preliminary Study of the Possible Role of Cannabinoid Receptor-1 (CNR1) Gene Polymorphisms in the Development of Morbid Obesity in Obese Children
  • Nilgün Çöl Araz
  • Muradiye Nacak
  • Sibel Oğuzkan Balcı
  • Sacide Pehlivan
  • Ayşe Balat
J Clin Res Pediatr Endocrinol 2015; 7: 87-87
Genotype-Phenotype Correlation of Congenital Adrenal Hyperplasia Cases Having Complex (Multiple) Mutation Detected in CYP21A2 Gene
  • Hilmi Bolat
  • Samim Özen
  • Hüseyin Onay
  • Elif Söbü
  • Ayhan Abacı
  • Hüseyin Anıl Korkmaz
  • Şule Can
  • Tahir Atik
  • Şükran Darcan
  • Ferda Özkınay
J Clin Res Pediatr Endocrinol 2015; 7: 88-88
A Case with Infantile-Onset Pancytopenia and Hyperglycemia Associated with SLC19A2 Mutation
  • Nagehan Katipoğlu
  • Tuba Hilkay Karapınar
  • Korcan Demir
  • Sultan Aydın Köker
  • Özlem Nalbantoğlu
  • Yılmaz Ay
  • Hüseyin Anıl Korkmaz
  • Yeşim Oymak
  • Melek Yıldız
  • Esin Özcan
  • Selma Tunç
  • Filiz Hazan
  • Canan Vergin
  • Behzat Özkan
J Clin Res Pediatr Endocrinol 2015; 7: 89-89
Four Cases of SCD (Jarcho-Levin Syndrome) Presenting with Short Stature
  • Seda Aras
  • Gülşen Akay Tayfun
  • Huriye Nursel Elçioğlu
J Clin Res Pediatr Endocrinol 2015; 7: 89-89
Genetic Analysis of Lipodystrophies and Novel Mutations
  • Hüseyin Onay
  • Barış Akıncı
  • Tahir Atik
  • Tevfik Demir
  • Samim Özen
J Clin Res Pediatr Endocrinol 2015; 7: 90-90
RET Mutation Spectrum in Turkish Cases with Medullary Thyroid Carcinoma: Definition of a Novel K710R Mutation
  • İsmihan Merve Tekin
  • Hüseyin Onay
  • Ayça Aykut
  • Emin Karaca
  • Tahir Atik
  • Caner Turan
  • Gökhan Özger
  • Mehmet Erdoğan
  • Ferda Özkınay
J Clin Res Pediatr Endocrinol 2015; 7: 90-90
Chromosomal Abnormalities in 344 Patients who Were Referred to Cytogenetics Laboratory with Pre-Diagnosis of Short Stature, Turner Syndrome and Sex Developmental Disorders
  • Afrooz Rashnonejad
  • Tahir Atik
  • İsmihan Merve Tekin
  • Caner Turan
  • Ozan Torun
  • Samim Özen
  • Özgür Çoğulu
  • Damla Gökşen
  • Şükran Darcan
  • Ferda Özkınay
J Clin Res Pediatr Endocrinol 2015; 7: 91-91
Genotype-Phenotype Correlation and Follow-Up Features in Cases with Congenital Hyperinsulinism (CHI)
  • Samim Özen
  • Damla Gökşen
  • İlkin Mecidov
  • Sian Ellard
  • Özge Altun Köroğlu
  • Mehmet Yalaz
  • Şükran Darcan
J Clin Res Pediatr Endocrinol 2015; 7: 91-91
A Family with Multiple Endocrine Neoplasia Type 2A: Importance of Early Prophylactic Thyroidectomy
  • Gönül Çatlı
  • Cemil Koçyiğit
  • Şule Can
  • Bumin Nuri Dündar
J Clin Res Pediatr Endocrinol 2015; 7: 92-92
Familial Partial Lipodystrophy Linked to aNovel Peroxisome Proliferator-Activated Receptor -? (PPARG) Mutation, H449L
  • Tevfik Demir
  • Hüseyin Onay
  • David B. Savage
  • Ayşe Kubat Kuruüzüm
  • Şenay Savaş Erdeve
  • Canan Altay
  • Samim Özen
  • Leyla Demir
  • Ümit Çavdar
  • Barış Akıncı
J Clin Res Pediatr Endocrinol 2015; 7: 92-92

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