Editorial
Diabetes from the Clinician Perspective
Şevki Çetinkalp
Approach to Monogenic Diabetes
Damla Gökşen
Diabetes and Our Genes
Hüseyin Onay
Endocrine Disrupters and Epigenetics
Özgür Çoğulu
Vitamin D in Sickness and Health
Zeliha Hekimsoy
Clinical Approach to Thyroid Cancer and Nodules
Mehmet Erdoğan
Genetic Mechanisms of Sex Development and New Approaches
Hatice Ilgın Ruhi
Clinical and Genetic Approach to Lipodystrophies
Barış Akıncı
Familial Acromegaly
Sema Yarman
Genetics in Pituitary Short Stature
Z. Oya Uyguner
Clinical and Genetics Approaches to Hypogonadotropic Hypogonadism
Ali Kemal Topaloğlu
Clinical Findings of Osteoporosis
Refik Tanakol
Genetic Approach to Osteoporosis
Yasemin Alanay
A Case of Dyskeratosis Congenita Associated with Hypothyroidism and Hypogonadism
Nilüfer Özdemir Kutbay, Zehra Erdemir, Banu Sarer Yürekli, et al.
A Young Diabetic Case with Bloom Syndrome
Nilüfer Özdemir Kutbay, Banu Sarer Yürekli, Mehmet Erdoğan, et al.
Melanocortin-4 Receptor Mutation and Obesity
Ilgın Yıldırım Şimşir, Samim Özen, Hüseyin Onay, et al.
Multiple Endocrine Neoplasia Type 4 (MEN4) Syndrome
Ilgın Yıldırım Şimşir, Yeşim Ertan, Murat Sözbilen, et al.
Two Siblings with Congenital Hyperinsulinism - Homozygote and Heterozygote Mutation
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 Young
Ahmet Anık, Gönül Çatlı, Ayhan Abacı, et al.
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, et al.
The Case of Transient Neonatal Diabetes Mellitus Associated with 6q24
Damla Gökşen, Samim Özen, Nurhan Özcan, et al.
Olfactory Sulcus Hypoplasia Images in a Case of Kallmann Syndrome
Banu Sarer Yürekli, Nilüfer Özdemir Kutbay, Emin Karaca, et al.
A Novel Mutation in Deficiency of 11 ß-Hydroxylase: A Possible Association with Disease Severity
Nilüfer Özdemir Kutbay, Banu Sarer Yürekli, Ilgın Yıldırım Şimşir, et al.
A Case of Polyglandular Autoimmune Syndrome Type One with Hypercalcemia and Hypotension
Nilüfer Özdemir Kutbay, Banu Sarer Yürekli, Miray Yaman, et al.
Features of Nine Adult Cases of Osteogenesis Imperfecta
Nilüfer Özdemir Kutbay, Banu Sarer Yürekli, Fatma Keklik, et al.
Heterozygous AGPAT2 Mutation, Diabetes, and Lipodystrophy in Extremities
Ilgın Yıldırım Şimşir, Barış Akıncı, Hüseyin Onay, et al.
A Long Follow-Up of a Juvenile Case with Adrenal Cortical and Medullary Hyperplasia
Havva Nur Peltek Kendirci, Zehra Aycan, Elena Belyavskaya, et al.
Application of Next-Generation Sequencing Technology for CFTR Mutation Screening
Selma Ulusal, Hakan Gürkan, Güven Toksoy, et al.
A Hypogonadotropic Hypogonadism Case as a Consequence of GNRHR Mutation
Esra Döğer, Özge Yüce, Nurullah Çelik, et al.
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, et al.
Mozaic Turner Syndrome and Precocious Puberty Association: A Three-Year-Old Patient
Özlem Sangün, Pınar Kiper Mısırlıoğlu, Tülün Savaş
A Rare GCMB Gene Mutation in an Isolated Hypoparathyroidism Case
Biray Ertürk, Emin Karaca, Caroline Silce, et al.
An Obese Case with Homozygous Leptin Receptor Mutation
Erdal Eren, Elif Söbü, Durmuş Doğan, et al.
Magnetic Resonance Imaging Characteristics of a Dunnigan-Type Familial Partial Lipodystrophy Patient
Nilüfer Özdemir Kutbay, Banu Sarer Yürekli, Emin Karaca, et al.
A Case of Hypocalciuric Hypercalcemia Accompanying Cystic Fibrosis
Yaşar Şen, Sevil Arı Yuca, Fuat Buğrul
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, et al.
Genetic Analysis of Lipodystrophies and Recently Found Mutations
Hüseyin Onay, Barış Akıncı, Tahir Atik, et al.
Investigation of CYP21A2 Gene Variants in Patients Pre-diagnosed with Congenital Adrenal Hyperplasia
Hakan Gürkan, Havva Nur Peltek Kendirci, Damla Eker, et al.
The Role of Adiponectin During Placental Development in Streptozotocin-Induced Rats
Dijle Kipmen Korgun, Zeynep Avcıl, Ayşegül Erdoğan, et al.
Screening of PROP-1, LHX2, and POU1F1 Mutations in Patients with Ectopic Posterior Pituitary Gland
Hüseyin Anıl Korkmaz, Utku Karaarslan, Cenk Eraslan, et al.
46,XY Complete Gonadal Dysgenesis: A Case Report
Hüseyin Anıl Korkmaz, Melek Yıldız, Filiz Hazan, et al.
Wolfram (DIDMOAD) Syndrome - Report of Two Siblings
Esra Özmen, Sibel Tulgar Kınık
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, et al.
A Case of Odontohypophosphatasia and Family Investigation
Esra Deniz Papatya Çakır, Mehmet Türe, Halil Sağlam, et al.
VDR Gene Analysis of Four Patients with Hereditary 1,25 Dihydroxyvitamin D-Resistant Rickets
Esra Deniz Papatya Çakır, Özgür Aldemir, Seyit Ahmet Uçaktürk, et al.
Investigation of BRAF Hotspot Mutations in Papillary Thyroid Tumor Samples
Hilmi Tozkır, Selma Ulusal, Hakan Gürkan, et al.
Two Siblings with Mutation in the Leptin Receptor Gene
Bülent Hacıhamdioğlu, Naseebullah Kakar, Duygu Hacıhamdioğlu, et al.
Abdominal Obesity May Be Caused by Increasing Cortisol Levels with Age
Mustafa Boz, Cüneyt Müderrisoğlu, Esma Altunoğlu, et al.
Wolfram Syndrome: Presentation of Two Cases with Type One and Type Two Diabetes Mellitus
Gülşah Y. Yalın, Sirhan Emiksiyev, Seher Tanrıkulu, et al.
H Syndrome: A Rare Monogenic Cause of Insulin-Dependent Diabetes Mellitus
Saygın Abalı, Zeynep Atay, Serpil Baş, et al.
A Case of Pycnodysostosis with Bilateral Choanal Atresia
Ceren Damla Durmaz, Pınar Kocaay, Ömer Suat Fitöz, et al.
Microcephalic Osteodysplastic Primordial Dwarfism Type Two
Pınar İşgüven, Nursel Elçioğlu
Three Male Cases with Isodicentric Y Chromosome Mosaicism Including 45,X Cell Line
Şule Altıner, Özlem Türedi, Hatice Ilgın Ruhi
Central Precocious Puberty in a Patient with Multiple Pituitary Hormone Deficiency Due to POU1F1 (PIT1) Gene Mutation
Zehra Yavaş Abalı, Şükran Poyrazoğlu, Firdevs Baş, et al.
A Rare Presentation of Friedreich’s Ataxia in Pediatric Case: Diabetes Mellitus
Serpil Baş, Saygın Abalı, Zeynep Atay, et al.
Hypoparathyroidism-Deafness-Renal Disease Syndrome: The First Case Report from Turkey
Hakan Döneray, Takeshi Usui, Avni Kaya, et al.
Thyroid Hemiagenesis: A Case Report
Avnı Kaya, Belma Haliloğlu, Hasan Balık
Prevalence and Molecular Characteristics of Y Chromosome Microdeletions in Infertile Males: A Single-Center Study
Ayşe Nur Kavasoğlu, Hüseyin Onay, Ayça Aykut, et al.
A Further Case of Hajdu-Cheney Syndrome Having a Novel Mutation in the NOTCH2 Gene
Ayşe Nur Kavasoğlu, Hüseyin Onay, Mehmet Argın, et al.
A Case of Thyroid Hormone Resistance
Ruken Yıldırım, Yusuf Kenan Haspolat, Handan Deniz, et al.
A Case with Acrodysostosis and Hormone Resistance
Selma Tunç, Korcan Demircan Sezer, Filiz Hazan, et al.
Genetic Diagnosis Using Whole Exome Analysis in Two Cases with Malignant Infantile Osteopetrosis
Korcan Demir, Özlem Nalbantoğlu Elmas, Kadri Karaer, et al.
Tamoxifen Treatment for Pubertal Gynecomastia in a Patient with Partial Androgen Insensitivity Syndrome
Pınar Kocaay, Zeynep Şıklar, Hatice Ilgın Ruhi, et al.
A Case of Mosaic 45,X/46,XY Infertile Man with an AZF Deletion
Mine Balasar, Pelin Taşdemir, Özgür Balasar, et al.
Genetic Analysis in Our Cases with Thyroid Dysgenesis
Elif Özsu, Filiz Mine Çizmecioğlu, Gül Yeşiltepe Mutlu, et al.
A Case of Type 1 Diabetes Mellitus with Klinefelter’s Syndrome
Eren Er, Sibel Tulgar Kınık
A Rare Genetic Disorder: Partial Trisomy on Chromosome 21
Gül Yeşiltepe Mutlu, Hatip Aydın, Heves Kırmızıbekmez, et al.
An Infantile Hypophosphatasia Patient with a Homozygous Mutation in the ALPS Gene
Banu Güzel Nur, Gamze Çelmeli, Erdoğan Soyuçen, et al.
A Case of Achondrogenesis Type 2/Hypochondrogenesis Due to a De Novo Mutation in the COL2A1 Gene
Gönül Çatlı, Ayhan Abacı, Ahmet Anık, et al.
Multiple Pituitary Hormone Deficiency Associated with Pituitary Hyperplasia: A Case Report
Mikayir Genenş, Neşe Akcan, Zehra Yavaş Abalı, et al.
Osteogenesis Imperfecta Presenting with Fractures in Pregnancy or Lactation Period: Report of Three Cases
Seher Tanrıkulu, Nurdan Gül, Gülşah Yenidünya Yalın, et al.
Phenotype-Genotype Correlations in Bardet-Biedl Syndrome Patients with Molecular Analysis
Aslı Ece Solmaz, Hüseyin Onay, Tahir Atık, et al.
Crouzon Syndrome with Hypoplasia of Corpus Callosum and Inferior Vermis
Fatih Gürbüz, Serdar Ceylaner, Ali Kemal Topaloğlu, et al.
Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis
Fatih Gürbüz, Özge Özalp Yüreğir, Serdar Ceylaner, et al.
Complete Androgen Insensitivity Syndrome; the Importance of Family Screening
Ruken Yıldırım, Yusuf Kenan Haspolat, Didem Helvacıoğlu
Wolcott-Rallison Syndrome
Fatih Gürbüz, Bilgin Yüksel, Ali Kemal Topaloğlu
Different Genotypes in Prader-Willi Syndrome
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) Gene
Emregül ışık, Hüseyin Demirbilek, Kevin Colclough, et al.
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, et al.
Efficacy and Safety of Sirolimus (mTOR Inhibitor) in Two Patients with Diazoxide-Unresponsive Hyperinsulinemic Hypoglycemia
Cengiz Kara, Gülay Can Yılmaz, Hüseyin Demirbilek, et al.
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, et al.
Growth Hormone Treatment in an Adolescent with Pycnodysostosis
Gülay Can Yılmaz, Cengiz Kara, Hüseyin Onay, et al.
Genotype-Phenotype Correlation of Congenital Adrenal Hyperplasia Cases Having Complex (Multiple) Mutation Detected in CYP21A2 Gene
Hilmi Bolat, Samim Özen, Hüseyin Onay, et al.
Four Cases of SCD (Jarcho-Levin Syndrome) Presenting with Short Stature
Seda Aras, Gülşen Akay Tayfun, Huriye Nursel Elçioğlu
A Case with Infantile-Onset Pancytopenia and Hyperglycemia Associated with SLC19A2 Mutation
Nagehan Katipoğlu, Tuba Hilkay Karapınar, Korcan Demir, et al.
RET Mutation Spectrum in Turkish Cases with Medullary Thyroid Carcinoma: Definition of a Novel K710R Mutation
İsmihan Merve Tekin, Hüseyin Onay, Ayça Aykut, et al.
Genetic Analysis of Lipodystrophies and Novel Mutations
Hüseyin Onay, Barış Akıncı, Tahir Atik, et al.
Genotype-Phenotype Correlation and Follow-Up Features in Cases with Congenital Hyperinsulinism (CHI)
Samim Özen, Damla Gökşen, İlkin Mecidov, et al.
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, et al.
Familial Partial Lipodystrophy Linked to aNovel Peroxisome Proliferator-Activated Receptor -? (PPARG) Mutation, H449L
Tevfik Demir, Hüseyin Onay, David B. Savage, et al.
A Family with Multiple Endocrine Neoplasia Type 2A: Importance of Early Prophylactic Thyroidectomy
Gönül Çatlı, Cemil Koçyiğit, Şule Can, et al.
