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Articles from Journal of Clinical Research in Pediatric Endocrinology (June 1, 2016)

1-35 out of 35 article(s)
Title Author Type Words
A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome. Khan, Nusrat; Dandan, Waleed; Al Hassani, Noura; Hadi, Suha Case study 2672
A Novel c.554+5C>T Mutation in the DUOXA2 Gene Combined with p.R885Q Mutation in the DUOX2 Gene Causing Congenital Hypothyroidism. Zheng, Xiao; Ma, Shao-Gang; Qiu, Ya-Li; Guo, Man-Li; Shao, Xiao-Juan Case study 2339
A Novel Mutation in Human Androgen Receptor Gene Causing Partial Androgen Insensitivity Syndrome in a Patient Presenting with Gynecomastia at Puberty. Kocyigit, Cemil; Saritas, Serdar; Qatli, Gonul; Onay, Huseyin; Dundar, Bumin Nuri Case study 2898
A Novel Mutation in Thyroid Peroxidase Gene Causing Congenital Goitrous Hypothyroidism in a German-Thai Patient. Sriphrapradang, Chutintorn; Thewjitcharoen, Yotsapon; Chanprasertyothin, Suwannee; Nakasatien, Soont Case study 2938
A Novel Null Mutation in P450 Aromatase Gene (CYP19A1) Associated with Development of Hypoplastic Ovaries in Humans. Akgurin, Sema; Turkkahraman, Doga; Kim, Woo-Young; Durmaz, Erdem; Shin, Jae-Gook; Lee, Su-Jun Report 3129
Association of DENND1A Gene Polymorphisms with Polycystic Ovary Syndrome: A Meta-Analysis. Bao, Shan; Cai, Jun-Hong; Yang, Shu-Ying; Ren, Yongchao; Feng, Tian; Jin, Tianbo; Li, Zhuo-Ri Report 4404
Automating Glycemic Management in Diabetes Mellitus with a Bionic Pancreas. Russell, Steven Jon Report 886
Bone Mineral Density in Adolescent Girls with Hypogonadotropic and Hypergonadotropic Hypogonadism. Ozbek, Mehmet Nuri; Demirbilek, Huseyin; Baran, Riza Taner; Baran, Ahmet Report 4343
Cellular Trace Element Changes in Type 1 Diabetes Patients. Ugurlu, Vahap; Binay, Cigdem; Simsek, Enver; Bal, Cengiz Report 4596
Clinical and Genetic Characteristics, Management and Long-Term Follow-Up of Turkish Patients with Congenital Hyperinsulinism. Guven, Ayla; Cebeci, Ayse Nurcan; Ellard, Sian; Flanagan, Sarah E. Report 5698
Congenital Adrenal Hyperplasia: Consensus Guidelines and Beyond. Geffner, Mitchell E. Report 858
Current Perspectives on Pseudohypoparathyroidism-New Classification. Turan, Serap Report 1155
Disorders/Differences of Sex Development: A World of Uncertainty. Vilain, Eric Report 584
Early Presentation of Hyperinsulinism/Hyperammonemia Syndrome in Three Serbian Patients. Sarajlija, Adrijan; Milenkovic, Tatjana; Djordjevic, Maja; Mitrovic, Katarina; Todorovic, Sladjana; Report 3125
Editor's Note. Darendeliler, Feyza 416
Editorial. Editorial 184
Effects of Thyroid Autoimmunity on Early Atherosclerosis in Euthyroid Girls with Hashimoto's Thyroiditis. Isguven, Pinar; Gunduz, Yasemin; Kilic, Mukaddes Report 4858
Efficacy and Safety of Long-Acting Gonadotropin Releasing Hormone Analogs. Geffner, Mitchell E. Report 500
Genetic Defects Affecting Adrenal Development. Lipson, Allen; Vilain, Eric Report 545
Gonadotropin-Releasing Hormone Analogue Treatment in Females with Moderately Early Puberty: No Effect on Final Height. Savas-Erdeve, Senay; Siklar, Zeynep; Hacihamdioglu, Bulent; Kocaay, Pinar; Camtosun, Emine; Ocal, Go Report 5375
Homozygous Ala65Pro Mutation with V89L Polymorphism in SRD5A2 Deficiency. Eren, Erdal; Edgunlu, Tuba; Asut, Emre; Celik, Sevim Karakas Report 3475
Idiopathic Hypogonadotrophic Hypogonadism Caused by Inactivating Mutations in SRA1. Ulubay, Ayca; Kotan, L. Damla; Cooper, Charlton; Darcan, Sukran; Carr, Ian M.; Ozen, Samim; Yan, Yi; Author abstract 132
Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1. Kotan, Leman Damla; Cooper, Charlton; Darcan, Sukran; Carr, Ian M.; Ozen, Samim; Yan, Yi; Hamedani, Report 6991
Investigation of SHOX Gene Mutations in Turkish Patients with Idiopathic Short Stature. Delil, Kenan; Karabulut, Halil Gurhan; Hacihamdioglu, Bulent; Siklar, Zeynep; Berberoglu, Merih; Oca Report 4337
Long-acting Growth Hormone Formulations: Structure and Activity. Rogol, Alan D. Report 605
Long-term Outcome after Robotic-assisted Gastroplication in Adolescents: Hunger Hormone and Food Preference Changes Two Case Reports. Calcaterra, Valeria; Cena, Hellas; Fonte, Maria Luisa; De Amici, Mara; Vandoni, Matteo; Albanesi, Mi Report 4825
Maternal Obesity and its Short- and Long-Term Maternal and Infantile Effects. Korkmaz, Levent; Bastug, Osman; Kurtoglu, Selim Report 9056
Menstrual Characteristics of Pubertal Girls: A Questionnaire-Based Study in Turkey. Esen, Ihsan; Oguz, Baran; Serin, Hepsen Mine Report 3170
Neonatal Thyroid-Stimulating Hormone Screening as a Monitoring Tool for Iodine Deficiency in Turkey. Caylan, Nilgun; Tezel, Basak; Ozbas, Sema; Sahin, Nuran; Aydin, Sirin; Acican, Deniz; Keskinkilic, B Report 3562
Phenotype, Sex of Rearing, Gender Re-Assignment, and Response to Medical Treatment in Extended Family Members with a Novel Mutation in the SRD5A2 Gene. Deeb, Asma; Al Suwaidi, Hana; Ibukunoluwa, Fakunle; Attia, Salima Case study 3485
The Genetics of Growth and Growth Disorders: From the Hypothalamus to the Epiphysis. Geffner, Mitchell E. Report 1262
Thyroid Function and Thyroid Autoimmunity in Relation to Weight Status and Cardiovascular Risk Factors in Children and Adolescents: A Population-Based Study. Garcia-Garcia, Emilio; Vazquez-Lopez, Maria A.; Garcia-Fuentes, Eduardo; Galera-Martinez, Rafael; Gu Report 4006
Transient Congenital Hypothyroidism in Turkey: An Analysis on Frequency and Natural Course. Kara, Cengiz; Gunindi, Figen; Yilmaz, Gulay Can; Aydin, Murat Report 8229
Turner Syndrome: Care Through the Ages. Rogol, Alan D. Report 681
Use of Next Generation Sequencing in Clinical Practice: The Example of Disorders/Differences of Sex Development. Vilain, Eric Report 882

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