Case Report

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 0; 0: 0-0 [e-Pub] 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 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.0013 PMID:29687786
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 Bisgin
  • Mehmet Taştan
  • Bilgin Yüksel
  • Mustafa Yılmaz
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.0134 PMID:30015621
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
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

Case Report

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
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
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
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
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
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 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

Letter to Editor

Reply; Testotoxicosis: Report of Two Cases, One with a Novel Mutation in LHCGR Gene
  • Olcay Evliyaoğlu
J Clin Res Pediatr Endocrinol 2016; 8: 107-107 DOI: 10.4274/jcrpe.2765
Letter to the Editor regarding “Testotoxicosis: Report of Two Cases, One with a Novel Mutation in Luteinizing Hormone/Choriogonadotropin Receptor Gene”
  • Doğa Türkkahraman
J Clin Res Pediatr Endocrinol 2015; 7: 355-355 DOI: 10.4274/jcrpe.2461

Rapid Communication

Identification of Novel Mutations in STAR Gene in Patients with Lipoid Congenital Adrenal Hyperplasia: A First Report from India
  • Lakshmi Vasudevan
  • Rajesh Joshi
  • Dhanjit Kumar Das
  • Sudha Rao
  • Daksha Sanghavi
  • Shiny Babu
  • Parag M. Tamhankar
J Clin Res Pediatr Endocrinol 2013; 5: 121-124 DOI: 10.4274/Jcrpe.927 PMID:23748066

Case Reports

A Novel Mutation Causing Pseudohypoparathyroidism 1A with Congenital Hypothyroidism and Osteoma Cutis
  • Tamar Lubell
  • Maria Garzon
  • Kwame Anyane-Yeboa
  • Bina Shah
J Clin Res Pediatr Endocrinol 2009; 1: 244-247 DOI: 10.4274/jcrpe.v1i5.244 PMID:21274302

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