Case Report

A Cleidocranial Dysplasia Case with a Novel Mutation and Growth Velocity Gain with Growth Hormone Treatment
  • Emine Çamtosun
  • Ayşehan Akıncı
  • Emine Demiral
  • İbrahim Tekedereli
  • Ahmet Sığırcı
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.0211 PMID:30468148
Berardinelli-Seip syndrome patient with novel AGPAT2 splicesite mutation and concomitant development of non-diabetic polyneuropathy
  • Joanna Oswiecimska
  • Mateusz Dawidziuk
  • Tomasz Gambin
  • Katarzyna Ziora
  • Marta Marek
  • Sylwia Rzonca
  • D. Lys Guilbride
  • Shalini N. Jhangiani
  • Anna Obuchowicz
  • Alicja Sikora
  • James R. Lupski
  • Wojciech Wiszniewski
  • Pawel Gawlinski
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.0227 PMID:30563316
A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome
  • Xia Zhang
  • Yanjie Fan
  • Xiaomin Liu
  • Ming Ang Zhu
  • Yu Sun
  • Hui Yan
  • Yunjuan He
  • Xiantao Ye
  • Xuefan Gu
  • Yongguo Yu
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.0220
Isolated Growth Hormone Deficiency Type II due to a novel GH1 mutation: A Case Report
  • Ahmad Kautsar
  • Jan M. Wit
  • Aman Pulungan
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.0305
A Novel Homozygous Mutation of the Acid-Labile Subunit (IGFALS) Gene in a Male Adolescent
  • Sukran Poyrazoglu
  • Vivian Hwa
  • Firdevs Bas
  • Andrew Dauber
  • Ron Rosenfeld
  • Feyza Darendeliler
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2018.0301
A Case of Autosomal Dominant Osteopetrosis Type II with a CLCN7 Gene Mutation
  • Sol Kang
  • Young Kyung Kang
  • Jun Ah Lee
  • Dong Ho Kim
  • Jung Sub Lim
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2018.0229
Three Siblings with Idiopathic Hypogonadotropic Hypogonadism in a Nonconsanguineous Family: A Novel KISS1R/GPR54 Loss-of-Function Mutation
  • Ozlem Nalbantoglu
  • Gulcin Arslan
  • Ozge Koprulu
  • Filiz Hazan
  • Semra Gursoy
  • Behzat Ozkan
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2018.0230
Primary Adrenal Insufficiency Caused by a Novel Mutation in DAX1 Gene
  • Olcay Evliyaoğlu
  • İpek Dokurel
  • Feride Bucak
  • Bahar Özcabı
  • Oya Ercan
  • Serdar Ceylaner
J Clin Res Pediatr Endocrinol 2013; 5: 55-57 DOI: 10.4274/Jcrpe.895 PMID:23367499
Congenital Hyperinsulinism and Evolution to Sulfonylurearesponsive Diabetes Later in Life due to a Novel Homozygous p.L171F ABCC8 Mutation
  • Emregül Işık
  • Hüseyin Demirbilek
  • Jayne A. Houghton
  • Sian Ellard
  • Sarah E. Flanagan
  • Khalid Hussain
J Clin Res Pediatr Endocrinol 2019; 11: 82-87 DOI: 10.4274/jcrpe.galenos.2018.2018.0077 PMID:29739729
Hyperphosphatemic Familial Tumoral Calcinosis in Two Siblings with a Novel Mutation in GALNT3 Gene: Experience from Southern Turkey
  • Rabia Miray Kışla Ekinci
  • Fatih Gürbüz
  • Sibel Balcı
  • Atıl Bişgin
  • Mehmet Taştan
  • Bilgin Yüksel
  • Mustafa Yılmaz
J Clin Res Pediatr Endocrinol 2019; 11: 94-99 DOI: 10.4274/jcrpe.galenos.2018.2018.0134 PMID:30015621
Neonatal Diabetes: Two Cases with Isolated Pancreas Agenesis due to Homozygous PTF1A Enhancer Mutations and One with Developmental Delay, Epilepsy, and Neonatal Diabetes Syndrome due to KCNJ11 Mutation
  • Olcay Evliyaoğlu
  • Oya Ercan
  • Emel Ataloğlu
  • Ümit Zübarioğlu
  • Bahar Özcabı
  • Aydilek Dağdeviren
  • Hande Erdoğan
  • Elisa De Franco
  • Sian Ellard
J Clin Res Pediatr Endocrinol 2018; 10: 168-174 DOI: 10.4274/jcrpe.5162 PMID:28943513
A Novel KCNJ11 Mutation Associated with Transient Neonatal Diabetes
  • Evangelia Gole
  • Stavroula Oikonomou
  • Sian Ellard
  • Elisa De Franco
  • Kyriaki Karavanaki
J Clin Res Pediatr Endocrinol 2018; 10: 175-178 DOI: 10.4274/jcrpe.5166 PMID:28943514
One Novel 2.43Kb Deletion and One Single Nucleotide Mutation of the INSR Gene in a Chinese Neonate with Rabson-Mendenhall Syndrome
  • Xiang Chen
  • Huijun Wang
  • Bingbing Wu
  • Xinran Dong
  • Bo Liu
  • Hongbo Chen
  • Yulan Lu
  • Wenhao Zhou
  • Lin Yang
J Clin Res Pediatr Endocrinol 2018; 10: 183-187 DOI: 10.4274/jcrpe.5080 PMID:29082893
Severe Early Onset Obesity due to a Novel Missense Mutation in Exon 3 of the Leptin Gene in an Infant from Northwest India
  • Devi Dayal
  • Keerthivasan Seetharaman
  • Inusha Panigrahi
  • Balasubramaniyan Muthuvel
  • Ashish Agarwal
J Clin Res Pediatr Endocrinol 2018; 10: 274-278 DOI: 10.4274/jcrpe.5501 PMID:29217499
Aromatase Deficiency due to a Novel Mutation in CYP19A1 Gene
  • Edip Unal
  • Ruken Yıldırım
  • Funda Feryal Taş
  • Vasfiye Demir
  • Hüseyin Onay
  • Yusuf Kenan Haspolat
J Clin Res Pediatr Endocrinol 2018; 10: 377-381 DOI: 10.4274/jcrpe.0011 PMID:29553041
A Novel Mutation of AMHR2 in Two Siblings with Persistent Müllerian Duct Syndrome
  • Edip Unal
  • Ruken Yıldırım
  • Suat Tekin
  • Vasfiye Demir
  • Hüseyin Onay
  • Yusuf Kenan Haspolat
J Clin Res Pediatr Endocrinol 2018; 10: 387-390 DOI: 10.4274/jcrpe.0013 PMID:29687786

Original Research

Distribution of RET Mutations and Evaluation of Treatment Approaches in Hereditary Medullary Thyroid Carcinoma in Turkey
  • Berna İmge Aydoğan
  • Bağdagül Yüksel
  • Mazhar Müslüm Tuna
  • Mehtap Navdar Başaran
  • Ayşen Akkurt Kocaeli
  • Melek Eda Ertörer
  • Kadriye Aydın
  • Sibel Güldiken
  • Yasin Şimşek
  • Züleyha Cihan Karaca
  • Merve Yılmaz
  • Müjde Aktürk
  • İnan Anaforoğlu
  • Nur Kebapçı
  • Cevdet Duran
  • Abdullah Taşlıpınar
  • Mustafa Kulaksızoğlu
  • Alptekin Gürsoy
  • Selçuk Dağdelen
  • Murat Faik Erdoğan
J Clin Res Pediatr Endocrinol 2016; 8: 13-20 DOI: 10.4274/jcrpe.2219 PMID:26758973
Screening of HHEX Mutations in Chinese Children with Thyroid Dysgenesis
  • Shiguo Liu
  • Jian Chai
  • Guohua Zheng
  • Huichao Li
  • Deguo Lu
  • Yinlin Ge
J Clin Res Pediatr Endocrinol 2016; 8: 21-25 DOI: 10.4274/jcrpe.2456 PMID:26757609
CYP21A2 Gene Mutations in Congenital Adrenal Hyperplasia: Genotype-phenotype correlation in Turkish children
  • Firdevs Baş
  • Hülya Kayserili
  • Feyza Darendeliler
  • Oya Uyguner
  • Hülya Günöz
  • Memnune Yüksel Apak
  • Fatmahan Atalar
  • Rüveyde Bundak
  • Robert C. Wilson
  • Maria I. New
  • Bernd Wollnik
  • Nurçin Saka
J Clin Res Pediatr Endocrinol 2009; 1: 116-128 DOI: 10.4008/jcrpe.v1i3.49 PMID:21274396
Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1
  • Leman Damla Kotan
  • Charlton Cooper
  • Şükran Darcan
  • Ian M. Carr
  • Samim Özen
  • Yi Yan
  • Mohammad K. Hamedani
  • Fatih Gürbüz
  • Eda Mengen
  • İhsan Turan
  • Ayça Ulubay
  • Gamze Akkuş
  • Bilgin Yüksel
  • A. Kemal Topaloğlu
  • Etienne Leygue
J Clin Res Pediatr Endocrinol 2016; 8: 125-134 DOI: 10.4274/jcrpe.3248 PMID:27086651
Investigation of SHOX Gene Mutations in Turkish Patients with Idiopathic Short Stature
  • Kenan Delil
  • Halil Gürhan Karabulut
  • Bülent Hacıhamdioğlu
  • Zeynep Şıklar
  • Merih Berberoğlu
  • Gönül Öçal
  • Ajlan Tükün
  • Hatice Ilgın Ruhi
J Clin Res Pediatr Endocrinol 2016; 8: 144-149 DOI: 10.4274/jcrpe.2307 PMID:26758084
Clinicopathological Characteristics of Papillary Thyroid Cancer in Children with Emphasis on Pubertal Status and Association with BRAFV600E Mutation
  • Şükran Poyrazoğlu
  • Rüveyde Bundak
  • Firdevs Baş
  • Gülçin Yeğen
  • Yasemin Şanlı
  • Feyza Darendeliler
J Clin Res Pediatr Endocrinol 2017; 9: 185-193 DOI: 10.4274/jcrpe.3873 PMID:28077340
Congenital Hyperinsulinism in China: A Review of Chinese Literature Over the Past 15 Years
  • Wei-Yan Wang
  • Yi Sun
  • Wen-Ting Zhao
  • Tai Wu
  • Liang Wang
  • Tian-Ming Yuan
  • Hui-Min Yu
J Clin Res Pediatr Endocrinol 2017; 9: 194-201 DOI: 10.4274/jcrpe.3934 PMID:28270372
A Novel Null Mutation in P450 Aromatase Gene (CYP19A1) Associated with Development of Hypoplastic Ovaries in Humans
  • Sema Akçurin
  • Doğa Türkkahraman
  • Woo-Young Kim
  • Erdem Durmaz
  • Jae-Gook Shin
  • Su-Jun Lee
J Clin Res Pediatr Endocrinol 2016; 8: 205-210 DOI: 10.4274/jcrpe.2761 PMID:27086564
Melanocortin-4 Receptor Gene Mutations in a Group of Turkish Obese Children and Adolescents
  • Selma Tunç
  • Korcan Demir
  • Fatma Ajlan Tükün
  • Cihan Topal
  • Filiz Hazan
  • Burcu Sağlam
  • Özlem Nalbantoğlu
  • Melek Yıldız
  • Behzat Özkan
J Clin Res Pediatr Endocrinol 2017; 9: 216-221 DOI: 10.4274/jcrpe.4225 PMID:28218067
Homozygous Ala65Pro Mutation with V89L Polymorphism in SRD5A2 Deficiency
  • Erdal Eren
  • Tuba Edgünlü
  • Emre Asut
  • Sevim Karakaş Çelik
J Clin Res Pediatr Endocrinol 2016; 8: 218-223 DOI: 10.4274/jcrpe.2495 PMID:26761946

Case Report

Patient with Mutation in the Matrix Metalloproteinase 2 (MMP2) Gene - A Case Report and Review of the Literature
  • Alka V. Ekbote
  • Sumita Danda
  • Andreas Zankl
  • Kausik Mandal
  • Tina Maguire
  • Kobus Ungerer
J Clin Res Pediatr Endocrinol 2014; 6: 40-46 DOI: 10.4274/Jcrpe.1166 PMID:24637309
Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene
  • Abdullah Çim
  • Salih Coşkun
  • Orhan Görükmez
  • Hatice Yüksel
  • Ünal Uluca
  • Erminia Di Pietro
  • François Plourde
  • Nancy Elise Braverman
J Clin Res Pediatr Endocrinol 2015; 7: 69-72 DOI: 10.4274/jcrpe.1835 PMID:25800479
A Case of Thanatophoric Dysplasia Type 2: A Novel Mutation
  • Selvi Gülaşı
  • Aytuğ Atıcı
  • Yalçın Çelik
J Clin Res Pediatr Endocrinol 2015; 7: 73-76 DOI: 10.4274/jcrpe.1703 PMID:25800480
Transient Neonatal Diabetes due to a Mutation in KCNJ11 in a Child with Klinefelter Syndrome
  • Amanda R. Dahl
  • Radhika Dhamija
  • Alaa Al Nofal
  • Siobhan T. Pittock
  • W. Frederick Schwenk
  • Seema Kumar
J Clin Res Pediatr Endocrinol 2018; 10: 79-82 DOI: 10.4274/jcrpe.4807 PMID:28766502
CYP24A1 Mutation in a Girl Infant with Idiopathic Infantile Hypercalcemia
  • Jens Otto Broby Madsen
  • Sabrina Sauer
  • Bodo Beck
  • Jesper Johannesen
J Clin Res Pediatr Endocrinol 2018; 10: 83-86 DOI: 10.4274/jcrpe.4841 PMID:28874334
Long-Term Follow-Up of a Pseudohypoparathyroidism Type 1A Patient with Missense Mutation (Pro115Ser) in Exon 5
  • Şenay Savaş Erdeve
  • Merih Berberoğlu
  • Zeynep Şıklar
  • Olcay Evliyaoğlu
  • Olaf Hiort
  • Gönül Öcal
J Clin Res Pediatr Endocrinol 2010; 2: 85-88 DOI: 10.4274/jcrpe.v2i2.85 PMID:21274345
Delayed Adrenarche may be an Additional Feature of Immunoglobulin Super Family Member 1 Deficiency Syndrome
  • Severine Van Hulle
  • Margarita Craen
  • Bert Callewaert
  • Sjoerd Joustra
  • Wilma Oostdijk
  • Monique Losekoot
  • Jan Maarten Wit
  • Marc Olivier Turgeon
  • Daniel J. Bernard
  • Jean De Schepper
J Clin Res Pediatr Endocrinol 2016; 8: 86-91 DOI: 10.4274/jcrpe.2512 PMID:26757742
Wolcott-Rallison Syndrome Due to a Novel Mutation (R491X) in EIF2AK3 Gene
  • Ercan Mıhçı
  • Doğa Tu¨rkkahraman
  • Sian Ellard
  • Sema Akçurin
  • İffet Bircan
J Clin Res Pediatr Endocrinol 2012; 4: 101-103 DOI: 10.4274/Jcrpe.619 PMID:22672868
A Novel Homozygous Mutation in the Transient Receptor Potential Melastatin 6 Gene: A Case Report
  • Ayça Altıncık
  • Karl Peter Schlingmann
  • Mahya Sultan Tosun
J Clin Res Pediatr Endocrinol 2016; 8: 101-104 DOI: 10.4274/jcrpe.2254 PMID:26759217
Early Onset of Liver Steatosis in a Japanese Girl with Maturity-Onset Diabetes of the Young Type 3 (MODY3)
  • Akie Nakamura
  • Katsura İshidu
  • Toshihiro Tajima
J Clin Res Pediatr Endocrinol 2012; 4: 104-106 DOI: 10.4274/Jcrpe.584 PMID:22672869
Permanent Neonatal Diabetes Mellitus: Same Mutation, Different Glycemic Control with Sulfonylurea Therapy on Long-Term Follow-up
  • Banu Küçükemre Ay
  • Rüveyde Bundak
  • Firdevs Baş
  • Hülya Maraş
  • Nurçin Saka
  • Hülya Günöz
  • Feyza Darendeliler
J Clin Res Pediatr Endocrinol 2012; 4: 107-110 DOI: 10.4274/Jcrpe.524 PMID:22672870
The First Turkish Case of Hypoparathyroidism, Deafness and Renal Dysplasia (HDR) Syndrome
  • Hakan Döneray
  • Takeshi Usui
  • Avni Kaya
  • Ayşe Sena Dönmez
J Clin Res Pediatr Endocrinol 2015; 7: 140-143 DOI: 10.4274/jcrpe.1874 PMID:26316437
A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course
  • Emine Çamtosun
  • Sarah E. Flanagan
  • Sian Ellard
  • Zeynep Şıklar
  • Khalid Hussain
  • Pınar Kocaay
  • Merih Berberoğlu
J Clin Res Pediatr Endocrinol 2015; 7: 144-147 DOI: 10.4274/jcrpe.1963 PMID:26316438
Novel Mutation in the SLC19A2 Gene in an Iranian Family with Thiamine-Responsive Megaloblastic Anemia: A Series of Three Cases
  • Nosrat Ghaemi
  • Martha Ghahraman
  • Mohammad Reza Abbaszadegan
  • Alireza Baradaran-Heravi
  • Rahim Vakili
J Clin Res Pediatr Endocrinol 2013; 5: 199-201 DOI: 10.4274/Jcrpe.969 PMID:24072090
Hypochondroplasia in a Child with 1620C>G (Asn540Lys) Mutation in FGFR3
  • Hüseyin Anıl Korkmaz
  • Filiz Hazan
  • Ceyhun Dizdarer
  • Ajlan Tükün
J Clin Res Pediatr Endocrinol 2012; 4: 220-222 DOI: 10.4274/Jcrpe.787 PMID:23149434
A Novel c.554+5C>T Mutation in the DUOXA2 Gene Combined with p.R885Q Mutation in the DUOX2 Gene Causing Congenital Hypothyroidism
  • Xiao Zheng
  • Shao-Gang Ma
  • Ya-Li Qiu
  • Man-Li Guo
  • Xiao-Juan Shao
J Clin Res Pediatr Endocrinol 2016; 8: 224-227 DOI: 10.4274/jcrpe.2380 PMID:26758695
A Novel Mutation in Human Androgen Receptor Gene Causing Partial Androgen Insensitivity Syndrome in a Patient Presenting with Gynecomastia at Puberty
  • Cemil Koçyiğit
  • Serdar Sarıtaş
  • Gönül Çatlı
  • Hüseyin Onay
  • Bumin Nuri Dündar
J Clin Res Pediatr Endocrinol 2016; 8: 232-235 DOI: 10.4274/jcrpe.2637 PMID:27087292
Phenotype, Sex of Rearing, Gender Re-Assignment, and Response to Medical Treatment in Extended Family Members with a Novel Mutation in the SRD5A2 Gene
  • Asma Deeb
  • Hana Al Suwaidi
  • Fakunle Ibukunoluwa
  • Salima Attia
J Clin Res Pediatr Endocrinol 2016; 8: 236-240 DOI: 10.4274/jcrpe.2782 PMID:27086719
A Novel Mutation in Thyroid Peroxidase Gene Causing Congenital Goitrous Hypothyroidism in a German-Thai Patient
  • Chutintorn Sriphrapradang
  • Yotsapon Thewjitcharoen
  • Suwannee Chanprasertyothin
  • Soontaree Nakasatien
  • Thep Himathongkam
  • Objoon Trachoo
J Clin Res Pediatr Endocrinol 2016; 8: 241-245 DOI: 10.4274/jcrpe.2503 PMID:26761947
Testotoxicosis: Report of Two Cases, One with a Novel Mutation in LHCGR Gene
  • Bahar Özcabı
  • Feride Tahmiscioğlu Bucak
  • Serdar Ceylaner
  • Rahşan Özcan
  • Cenk Büyükünal
  • Oya Ercan
  • Beyhan Tüysüz
  • Olcay Evliyaoğlu
J Clin Res Pediatr Endocrinol 2015; 7: 242-248 DOI: 10.4274/jcrpe.2067 PMID:26831561
A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome
  • Nusrat Khan
  • Waleed Dandan
  • Noura Al Hassani
  • Suha Hadi
J Clin Res Pediatr Endocrinol 2016; 8: 246-249 DOI: 10.4274/jcrpe.2387 PMID:26761945
Severe Undervirilisation in a 46,XY Case Due to a Novel Mutation in HSD17B3 Gene
  • Ayfer Alikaşifoğlu
  • Doğuş Vurallı
  • Olaf Hiort
  • Nazlı Gönç
  • Alev Özön
  • Nurgün Kandemir
J Clin Res Pediatr Endocrinol 2015; 7: 249-252 DOI: 10.4274/jcrpe.2069 PMID:26831562
Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene
  • Monica Gabbay
  • Sian Ellard
  • Elisa De Franco
  • Regina S. Moisés
J Clin Res Pediatr Endocrinol 2017; 9: 274-277 DOI: 10.4274/jcrpe.4494 PMID:28663161
Congenital Central Hypothyroidism Caused by a Novel Thyroid-Stimulating Hormone-Beta Subunit Gene Mutation in Two Siblings
  • Bayram Özhan
  • Özlem Boz Anlaş
  • Bilge Sarıkepe
  • Burcu Albuz
  • Nur Semerci Gündüz
J Clin Res Pediatr Endocrinol 2017; 9: 278-282 DOI: 10.4274/jcrpe.4595 PMID:28515030
Identification and Functional Characterization of a Calcium-Sensing Receptor Mutation in an Infant with Familial Hypocalciuric Hypercalcemia
  • Anna Papadopoulou
  • Evangelia Gole
  • Katerina Melachroinou
  • Christos Meristoudis
  • Tania Siahanidou
  • Anastasios Papadimitriou
J Clin Res Pediatr Endocrinol 2016; 8: 341-346 DOI: 10.4274/jcrpe.2800 PMID:27087013
A Novel De Novo GATA Binding Protein 3 Mutation in a Turkish Boy with Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome
  • Gül Yeşiltepe Mutlu
  • Heves Kırmızıbekmez
  • Akie Nakamura
  • Maki Fukami
  • Şükrü Hatun
J Clin Res Pediatr Endocrinol 2015; 7: 344-348 DOI: 10.4274/jcrpe.2249 PMID:26777049
Pyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene
  • Banu Güzel Nur
  • Gamze Çelmeli
  • Esra Manguoğlu
  • Erdoğan Soyucen
  • İffet Bircan
  • Ercan Mıhçı
J Clin Res Pediatr Endocrinol 2016; 8: 360-364 DOI: 10.4274/jcrpe.2798 PMID:27086862
A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family
  • Fatma Dursun
  • Hussein Sheikh Ali Mohamoud
  • Noreen Karim
  • Muhammad Naeem
  • Musharraf Jelani
  • Heves Kırmızıbekmez
J Clin Res Pediatr Endocrinol 2016; 8: 472-477 DOI: 10.4274/jcrpe.2717 PMID:27087618
A Novel Homozygous Mutation in the KCNJ11 Gene of a Neonate with Congenital Hyperinsulinism and Successful Management with Sirolimus
  • Sevim Ünal
  • Deniz Gönülal
  • Ahmet Uçaktürk
  • Betül Siyah Bilgin
  • Sarah E. Flanagan
  • Fatih Gürbüz
  • Meltem Tayfun
  • Selin Elmaoğulları
  • Aslıhan Araslı
  • Fatma Demirel
  • Sian Ellard
  • Khalid Hussain
J Clin Res Pediatr Endocrinol 2016; 8: 478-481 DOI: 10.4274/jcrpe.2773 PMID:27181099
A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report
  • Dagmar Prochazkova
  • Zuzana Hruba
  • Petra Konecna
  • Jarmila Skotakova
  • Lenka Fajkusova
J Clin Res Pediatr Endocrinol 2016; 8: 482-483 DOI: 10.4274/jcrpe.3021 PMID:27217304
A Case of Vitamin D-Dependent Rickets Type 1A with a Novel Mutation in the Uzbek Population
  • Bahar Özcabı
  • Feride Tahmiscioğlu Bucak
  • Sevinç Jaferova
  • Çiğdem Oruç
  • Amra Adrovic
  • Serdar Ceylaner
  • Oya Ercan
  • Olcay Evliyaoğlu
J Clin Res Pediatr Endocrinol 2016; 8: 484-489 DOI: 10.4274/jcrpe.3128 PMID:27353739

Original Article

Distribution of Gene Mutations Associated with Familial Normosmic Idiopathic Hypogonadotropic Hypogonadism
  • Fatih Gürbüz
  • L. Damla Kotan
  • Eda Mengen
  • Zeynep Şıklar
  • Merih Berberoğlu
  • Sebila Dökmetaş
  • Mehmet Fatih Kılıçlı
  • Ayla Güven
  • Birgül Kirel
  • Nurçin Saka
  • Şükran Poyrazoğlu
  • Yaşar Cesur
  • Murat Doğan
  • Samim Özen
  • Mehmet Nuri Özbek
  • Hüseyin Demirbilek
  • M. Burcu Kekil
  • Fatih Temiz
  • Neslihan Önenli Mungan
  • Bilgin Yüksel
  • Ali Kemal Topaloğlu
J Clin Res Pediatr Endocrinol 2012; 4: 121-126 DOI: 10.4274/Jcrpe.725 PMID:22766261

Case Reports

Two Siblings with Isolated GH Deficiency Due to Loss-of-Function Mutation in the GHRHR Gene: Successful Treatment with Growth Hormone Despite Late Admission and Severe Growth Retardation
  • Zeynep Şıklar
  • Merih Berberoğlu
  • Maria Legendre
  • Serge Amselem
  • Olcay Evliyaoğlu
  • Bülent Hacıhamdioğlu
  • Şenay Savaş Erdeve
  • Gönül Öçal
J Clin Res Pediatr Endocrinol 2010; 2: 164-167 DOI: 10.4274/jcrpe.v2i4.164 PMID:21274317
Sporadic Nonautoimmune Neonatal Hyperthyroidism Due to A623V Germline Mutation in the Thyrotropin Receptor Gene
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  • Veysel Nijat Baş
  • Havva Nur Peltek Kendirici
J Clin Res Pediatr Endocrinol 2010; 2: 168-172 DOI: 10.4274/jcrpe.v2i4.168 PMID:21274318
A Novel Mutation Causing Pseudohypoparathyroidism 1A with Congenital Hypothyroidism and Osteoma Cutis
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  • Bina Shah
J Clin Res Pediatr Endocrinol 2009; 1: 244-247 DOI: 10.4274/jcrpe.v1i5.244 PMID:21274302

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