Works matching IS 13085727 AND DT 2016 AND VI 8 AND IP 2

Results: 23

A Novel Mutation in Human Androgen Receptor Gene Causing Partial Androgen Insensitivity Syndrome in a Patient Presenting with Gynecomastia at Puberty.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2016, v. 8, n. 2, p. 232, doi. 10.4274/jcrpe.2637

By:

Koçyiğit, Cemil;
Sarıtaş, Serdar;
Çatlı, Gönül;
Onay, Hüseyin;
Dündar, Bumin Nuri

Publication type:

Article

A Novel Mutation in Thyroid Peroxidase Gene Causing Congenital Goitrous Hypothyroidism in a German-Thai Patient.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2016, v. 8, n. 2, p. 241, doi. 10.4274/jcrpe.2503

By:

Sriphrapradang, Chutintorn;
Thewjitcharoen, Yotsapon;
Chanprasertyothin, Suwannee;
Nakasatien, Soontaree;
Himathongkam, Thep;
Trachoo, Objoon

Publication type:

Article

Phenotype, Sex of Rearing, Gender Re-Assignment, and Response to Medical Treatment in Extended Family Members with a Novel Mutation in the SRD5A2 Gene.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2016, v. 8, n. 2, p. 236, doi. 10.4274/jcrpe.2782

By:

Deeb, Asma;
Suwaidi, Hana Al;
Ibukunoluwa, Fakunle;
Attia, Salima

Publication type:

Article

Early Presentation of Hyperinsulinism/Hyperammonemia Syndrome in Three Serbian Patients.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2016, v. 8, n. 2, p. 228, doi. 10.4274/jcrpe.2436

By:

Sarajlija, Adrijan;
Milenkovic, Tatjana;
Djordjevic, Maja;
Mitrovic, Katarina;
Todorovic, Sladjana;
Kecman, Bozica;
Hussain, Khalid

Publication type:

Article

Association of DENND1A Gene Polymorphisms with Polycystic Ovary Syndrome: A Meta-Analysis.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2016, v. 8, n. 2, p. 135, doi. 10.4274/jcrpe.2259

By:

Shan Bao;
Cai, Jun-Hong;
Yang, Shu-Ying;
Yongchao Ren;
Tian Feng;
Tianbo Jin;
Li, Zhuo-Ri

Publication type:

Article

Editor's Note.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2016, v. 8, n. 2, p. 256

By:

Darendeliler, Feyza

Publication type:

Article

Long-term Outcome after Robotic-assisted Gastroplication in Adolescents: Hunger Hormone and Food Preference Changes Two Case Reports.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2016, v. 8, n. 2, p. 250, doi. 10.4274/jcrpe.2283

By:

Calcaterra, Valeria;
Cena, Hellas;
Fonte, Maria Luisa;
De Amici, Mara;
Vandoni, Matteo;
Albanesi, Michela;
Pelizzo, Gloria

Publication type:

Article

A Novel c.554+5C>T Mutation in the DUOXA2 Gene Combined with p.R885Q Mutation in the DUOX2 Gene Causing Congenital Hypothyroidism.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2016, v. 8, n. 2, p. 224, doi. 10.4274/jcrpe.2380

By:

Xiao Zheng;
Shao-Gang Ma;
Ya-Li Qiu;
Man-Li Guo;
Xiao-Juan Shao

Publication type:

Article

A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2016, v. 8, n. 2, p. 246, doi. 10.4274/jcrpe.2387

By:

Khan, Nusrat;
Dandan, Waleed;
Hassani, Noura Al;
Hadi, Suha

Publication type:

Article

Homozygous Ala65Pro Mutation with V89L Polymorphism in SRD5A2 Deficiency.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2016, v. 8, n. 2, p. 218, doi. 10.4274/jcrpe.2495

By:

Eren, Erdal;
Edgünlü, Tuba;
Asut, Emre;
Çelik, Sevim Karakaş

Publication type:

Article

Menstrual Characteristics of Pubertal Girls: A Questionnaire-Based Study in Turkey.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2016, v. 8, n. 2, p. 192, doi. 10.4274/jcrpe.2026

By:

Esen, İhsan;
Oğuz, Baran;
Serin, Hepsen Mine

Publication type:

Article

Investigation of SHOX Gene Mutations in Turkish Patients with Idiopathic Short Stature.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2016, v. 8, n. 2, p. 144, doi. 10.4274/jcrpe.2307

By:

Delil, Kenan;
Karabulut, Halil Gürhan;
Hacıhamdioğlu, Bülent;
Şıklar, Zeynep;
Berberoğlu, Merih;
Öçal, Gönül;
Tükün, Ajlan;
Ruhi, Hatice Ilgın

Publication type:

Article

Thyroid Function and Thyroid Autoimmunity in Relation to Weight Status and Cardiovascular Risk Factors in Children and Adolescents: A Population-Based Study.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2016, v. 8, n. 2, p. 157, doi. 10.4274/jcrpe.2687

By:

García-García, Emilio;
Vázquez-López, María A.;
García-Fuentes, Eduardo;
Galera-Martínez, Rafael;
Gutiérrez-Repiso, Carolina;
García-Escobar, Icíar;
Bonillo-Perales, Antonio

Publication type:

Article

Gonadotropin-Releasing Hormone Analogue Treatment in Females with Moderately Early Puberty: No Effect on Final Height.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2016, v. 8, n. 2, p. 211, doi. 10.4274/jcrpe.2356

By:

Savaş-Erdeve, Şenay;
Şıklar, Zeynep;
Hacıhamdioğlu, Bülent;
Kocaay, Pınar;
Çamtosun, Emine;
Öcal, Gönül;
Berberoğlu, Merih

Publication type:

Article

Clinical and Genetic Characteristics, Management and Long-Term Follow-Up of Turkish Patients with Congenital Hyperinsulinism.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2016, v. 8, n. 2, p. 197, doi. 10.4274/jcrpe.2408

By:

Güven, Ayla;
Cebeci, Ayşe Nurcan;
Ellard, Sian;
Flanagan, Sarah E.

Publication type:

Article

Novel Null Mutation in P450 Aromatase Gene (CYP19A1) Associated with Development of Hypoplastic Ovaries in Humans.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2016, v. 8, n. 2, p. 205, doi. 10.4274/jcrpe.2761

By:

Akçurin, Sema;
Türkkahraman, Doğa;
Woo-Young Kim;
Durmaz, Erdem;
Jae-Gook Shin;
Su-Jun Lee

Publication type:

Article

Cellular Trace Element Changes in Type 1 Diabetes Patients.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2016, v. 8, n. 2, p. 180, doi. 10.4274/jcrpe.2449

By:

Uğurlu, Vahap;
Binay, Çiğdem;
Şimşek, Enver;
Bal, Cengiz

Publication type:

Article

Neonatal Thyroid-Stimulating Hormone Screening as a Monitoring Tool for Iodine Deficiency in Turkey.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2016, v. 8, n. 2, p. 187, doi. 10.4274/jcrpe.2526

By:

Çaylan, Nilgün;
Tezel, Başak;
Özbaş, Sema;
Şahin, Nuran;
Aydın, Şirin;
Acıcan, Deniz;
Keskinkılıç, Bekir

Publication type:

Article

Maternal Obesity and its Short- and Long-Term Maternal and Infantile Effects.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2016, v. 8, n. 2, p. 114, doi. 10.4274/jcrpe.2127

By:

Korkmaz, Levent;
Baştuğ, Osman;
Kurtoğlu, Selim

Publication type:

Article

Bone Mineral Density in Adolescent Girls with Hypogonadotropic and Hypergonadotropic Hypogonadism.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2016, v. 8, n. 2, p. 163, doi. 10.4274/jcrpe.2228

By:

Özbek, Mehmet Nuri;
Demirbilek, Hüseyin;
Baran, Rıza Taner;
Baran, Ahmet

Publication type:

Article

Transient Congenital Hypothyroidism in Turkey: An Analysis on Frequency and Natural Course.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2016, v. 8, n. 2, p. 170, doi. 10.4274/jcrpe.2345

By:

Kara, Cengiz;
Gunindi, Figen;
Yılmaz, Gulay Can;
Aydın, Murat

Publication type:

Article

Effects of Thyroid Autoimmunity on Early Atherosclerosis in Euthyroid Girls with Hashimoto's Thyroiditis.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2016, v. 8, n. 2, p. 150, doi. 10.4274/jcrpe.2145

By:

İşgüven, Pınar;
Gündüz, Yasemin;
Kılıç, Mukaddes

Publication type:

Article

Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2016, v. 8, n. 2, p. 125, doi. 10.4274/jcrpe.3248

By:

Kotan, Leman Damla;
Cooper, Charlton;
Darcan, Şükran;
Carr, Ian M.;
Özen, Samim;
Yi Yan;
Hamedani, Mohammad K.;
Gürbüz, Fatih;
Mengen, Eda;
Turan, İhsan;
Ulubay, Ayça;
Akkuş, Gamze;
Yüksel, Bilgin;
Kemal Topaloğlu, A.;
Leygue, Etienne

Publication type:

Article