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Articles from Journal of Clinical Research in Pediatric Endocrinology (June 1, 2017)

1-88 out of 88 article(s)
Title Author Type Words
17-Hydroxylase Deficiency: Rare Cause of Delayed Puberty. Guven, Ayla; Guran, Tulay; Krone, Nils Author abstract 338
8Q22.3-Q24.23 Duplication: A Case Report. Kurtulgan, Hande Kucuk; Yildirim, Malik Ejder; Baser, Burak; Ozer, Leyla; Sezgin, Ilhan Clinical report 246
A Case of 46,XX DSD Due to a Novel Mutation in P450 Oxidoreductase Gene. Yildiz, Melek; Gezdirici, Alper; Aydin, Banu; Onal, Hasan; Akgun, Abdurrahman; Dogan, Beyza Belde; A Case study 300
A Case of Androgen Insensitivity Syndrome Presenting with Micropenis. Korkmaz, Huseyin Anil Case study 244
A Case of Congenital Generalized Lipodystrophy Type 2 with Novel BSCL2 Gene Mutation. Gurbuz, Fatih; Turan, Ihsan; Tastan, Mehmet; Topaloglu, Ali Kemal; Yuksel, Bilgin Brief article 301
A Case of Marfan Syndrome Presenting with Transverse Striae of the Back. Korkmaz, Huseyin Anil Case study 262
A Case of MEN 2A: D631Y Mutation. Yurekli, Banu Sarer; Ozisik, Hatice; Kutbay, Nilufer Ozdemir; Onay, Huseyin; Ozgen, Gokhan Author abstract 308
A Case of SHOX Gene Deletion Diagnosed By Microarray. Pariltay, Erhan; Isik, Esra; Atik, Tahir; Cogulu, Ozgur; Ozkinay, Ferda Case study 257
A Case of Vanishing Testis Syndrome. Korkmaz, Huseyin Anil Case study 278
A Case Presentation: Sleeve Gastrectomy with Transit Bipartition as a Treatment of Type 2 Diabetes Mellitus Applied for the First Time to a Bulgarian Citizen. Gey, Zehra Bahar; Demirel, Tugrul; Sadik, Senay Clinical report 310
A Case Report of Seckel Syndrome. Ozisik, Hatice; Yurekli, Banu Sarer; Ozen, Samim; Saygili, Fusun Brief article 293
A Comprehensive Online Calculator for Pediatric Endocrinologists: CEDD Cozum/TPEDS Metrics. Demir, Korcan; Ozen, Samim; Konakci, Ergun; Aydin, Murat; Darendeliler, Feyza Letter to the editor 1835
A Male Case of Aromatase Deficiency with a Novel CYP19A1 Mutation. Abur, Ummet; Atmaca, Aysegul; Scott, Hamish; Gagliardi, Lucia; Altundag, Engin; Akar, Omer Salih; Ba Clinical report 351
A New Mutation in an Infant with Hypercalcemia. Gunes, Sevinc Odabasi; Ergur, Ayca Torel Brief article 279
A Novel De Novo Missense Mutation in HNF4A Resulting in Sulfonylurea-Responsive MODY. Acar, Sezer; Abaci, Ayhan; Demir, Korcan; Ozdemir, Taha Resid; Ozyilmaz, Berk; Bober, Ece Case study 322
A Novel HESX1 Mutation in a Case with Panhypopituitarism. Solmaz, Asli Ece; Aykut, Ayca; Durmaz, Asude Brief article 225
A Novel Mutation in a Patient with 5-a Reductase Deficiency Reared as Girl. Korkmaz, Huseyin Anil; Onay, Huseyin; Ozkinay, Ferda Clinical report 256
A Novel Mutation in AMHR2 Gene in Two Siblings with Persistent Mullerian Duct Syndrome. Cakir, Aydilek Dagdeviren; Turan, Hande; Tuysuz, Beyhan; Onay, Huseyin; Ercan, Oya; Evliyaoglu, Saad Report 321
A Novel Mutation in INSR Gene in a Child Presenting with Acanthosis Nigricans. Tuhan, Hale; Ceylaner, Serdar; Nalbantoglu, Ozlem; Acar, Sezer; Abaci, Ayhan; Bober, Ece; Demir, Kor Case study 312
A Novel THRA Gene Mutation in Patient with Thyroid Hormone Resistance. Korkmaz, Ozlem; Ozen, Samim; Ozdemir, Taha Resid; Goksen, Damla; Darcan, Sukran Case study 353
A Rare Cause of Insulin-Dependent Diabetes: Two Siblings with Walcott-Rallison Syndrome. Sobu, Elif; Eren, Erdal; Demirbas, Ozgecan; Saglam, Halil; Tarim, Omer Brief article 277
A Rare Cause of Obesity: ROHHAD Syndrome. Yilmaz, Gulay Can; Kara, Cengiz; Serdaroglu, Filiz; Tasdemir, Haydar Ali; Aydin, Murat Case study 314
A Rare Genodermatosis: H Syndrome. Sezer, Ozlem; Ozen, Duriye Sila Karagoz; Demirag, Mehmet Derya; Toto, Ismail; Ozturk, Hacer Pinar; T Case study 375
An Infant with Leydig Cell Hypoplasia Presenting with Bilateral Inguinal Masses. Comlek, Fatma O.; Seyrek, Fatma; Yildiz, Raif; Ceylaner, Serdar; Tutunculer, Filiz Clinical report 323
Analysis of THRB Gene in Turkish Patients and Definition of Three Novel Pathogenic Variants. Gurkan, Hakan; Celik, Mehmet; Yaylali, Guzin Fidan; Algun, Ekrem; Caliskan, Mustafa; Omma, Tulay; Yi Report 412
Anthropometric Measurements and Complications of Achondroplasia Patients. Isik, Esra; Darcan, Sukran; Kavasoglu, Aysenur; Atik, Tahir; Onay, Huseyin; Simsek, Damla Goksen; Du Brief article 290
Association between Obesity and Parental Weight Status in Children and Adolescents. Bahreynian, Maryam; Qorbani, Mostafa; Khaniabadi, Bita Moradi; Motlagh, Mohammad Esmaeil; Safari, Om Report 5237
Association of Subclinical Hypothyroidism with Dyslipidemia and Increased Carotid Intima-Media Thickness in Children. Unal, Edip; Akin, Alper; Yildirim, Ruken; Demir, Vasfiye; Yildiz, Ismail; Haspolat, Yusuf Kenan Report 4000
Atypical LMNA Mutation in EXON 11 Associated with a Milder Clinical Outcome in Dunnigan-Type Familial Partial Lipodystrophy. Saydam, Basak Ozgen; Cavdar, Umit; Altay, Canan; Onay, Huseyin; Simsir, Ilgin Yildirim; Demir, Tevfi Case study 312
Basal Serum Neurokinin B Levels in Differentiating Idiopathic Central Precocious Puberty from Premature Thelarche. Parlak, Mesut; Turkkahraman, Doga; Ellidag, Hamit Yasar; Celmeli, Gamze; Parlak, Ayse Eda; Yilmaz, N Report 3179
Can Stoss Therapy Be Used in Children with Vitamin D Deficiency or Insufficiency without Rickets? Kocyigit, Cemil; Catli, Gonul; Ince, Gulberat; Ozkan, Elif Busra; Dundar, Bumin Nuri Report 3623
Case Report of Leri-Weill Dyscontrosteosis Caused By SHOX Gene Deletion. Kaplan, Emel Hatun Aytac; Keskin, Mehmet; Melik, Melda Case study 257
Clinical and Genetic Features of Our Patients with Hypophosphatemic Rickets. Acar, Sezer; Al-Rijjal, Roua A.; Meyer, Brian; Shi, Yufei; Demir, Korcan; Bober, Ece; Kattan, Walaa Clinical report 346
Congenital Hypothyroidism and Bone Remodeling Cycle. Karakas, Nazmi Mutlu; Kinik, Sibel Tulgar; Ozdemir, Beril; Sahin, Nursel Muratoglu; Tekindal, M. Aga Report 3753
CYP11A1 Mutations Result in Various Clinical Phenotypes. Guven, Ayla; Buonocore, Federica; Achermann, John; Guran, Tulay Report 578
Delayed Diagnosis of a 17-Hydroxylase/17,20-Lyase Deficient Patient Presenting as a 46,XY Female: A Low Normal Potassium Level Can Be an Alerting Diagnostic Sign. Camtosun, Emine; Siklar, Zeynep; Ceylaner, Serdar; Kocaay, Pinar; Berberoglu, Merih Clinical report 3044
Diagnostic Algoritm in Two Different Cases with Subclinical Endocrinologic Problems. Ergur, Ayca Torel; Guines, Sevinc Odabasi Brief article 275
EDITORIAL. Ozkinay, Ferda; Darcan, Sukran; Saygili, Fusun Editorial 194
Evaluation of the Response to the First Two Years of Growth Hormone Treatment in Kabuki Make-Up Syndrome. Celmeli, Gamze; Parlak, Mesut; Nur, Banu Guzel; Mihci, Ercan; Akcurin, Sema; Bircan, Iffet Brief article 277
FGFR2 Gene Mutations in Patients with Syndromic or Isolated Craniosynostosis. Ceylan, Emine Ipek; Solmaz, Asli Ece; Onay, Huseyin; Aykut, Ayca; Durmaz, Asude; Yesil, Gozde; Hazan Report 360
Four 46,XY DSD Cases with Novel Mutations in AR and SRD5A2 Genes. Aghayev, Agharza; Toksoy, Guven; Bas, Firdevs; Altunoglu, Umut; Karaman, Birsen; Poyrazoglu, Sukran; Report 355
Gene Conversion and Congenital Adrenal Hyperplasia: Two Case Reports. Balasar, Mine; Eklioglu, Beray Selver; Tasdemir, Pelin; Atabek, Mehmet Emre Clinical report 310
Gene Polymorphisms of Glutathione S-Transferase T1/M1 in Egyptian Children and Adolescents with Type 1 Diabetes Mellitus. Barseem, Naglaa; Elsamalehy, Mona Report 3759
Heart-Type Fatty Acid Binding Protein Level as a Tool in Identification of Early Cardiac Effects of Diabetic Ketoacidosis. Yilmaz, Fatma Hilal; Yuca, Sevil Ari; Vatansev, Husamettin; Cimbek, Emine Ayca; Sen, Yasar; Yilmaz, Report 4664
Hepatic Glycogenosis in a Patient with Type 1 Diabetes: Mauriac Syndrome vs. Congenital Glycogen Storage Disease. Topaloglu, Omercan; Sezer, Sibel Demiral; Demir, Bilgin; Yener, Abdullah Serkan Case study 355
Heterozygous p.D61G Mutation in a Patient with Noonan Syndrome. Korkmaz, Huseyin Anil Brief article 248
Higher-Than-Conventional Subcutaneous Regular Insulin Doses in Diabetic Ketoacidosis in Children and Adolescents. Bag, Ozlem; Tunc, Selma; Nalbantoglu, Ozlem; Ecevit, Cigdem; Ozturk, Aysel; Ozkan, Behzat; Demir, Ko Report 3900
Homozygous SHOX Gene Deletion Detected by Array-CGH in a Girl with Langer Mesomelic Dysplasia. Najafli, Adam; Karaman, Birsen; Satkin, Bilge Nihan; Altunoglu, Umut; Uyguner, Oya; Basaran, Seher Case study 252
HOXC4 Gene is Possibly Responsible for Lin-Gettig Syndrome. Atik, Tahir; Isik, Esra; Ozen, Samim; Akgun, Bilcag; Onay, Huseyin; Cogulu, Ozgur; Erguner, Bekir; S Case study 319
Hyperandrogenism and Skeletal Dysplasia: Evaluation of 7 Patients with PAPSS2 Gene Mutation. Alkaya, Dilek Uludag; Yilmaz, Saliha; Evliyaoglu, Olcay; Bilguvar, Kaya; Gunel, Murat; Tuysuz, Beyha Author abstract 364
Hyperinsulinemic Hypoglycemia Due to Homozygous C.706 C>T ( P. R236X) Mutation in 3 Siblings: Presentation with Resistant Epilepsy. Cayir, Atilla; Franco, Elisa De; Gullu, Ufuk Utku; Flanagan, Sarah E.; Ellard, Sian; Demirbilek, Hus Report 350
Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations. Akkus, Gamze; Kotan, Leman Damla; Durmaz, Erdem; Mengen, Eda; Turan, Ihsan; Ulubay, Ayca; Gurbuz, Fa Report 3493
Impact of CYP21A2 Gene Mutations on Clinical Management of Congenital Adrenal Hyperplasia. Sanri, Aslihan; Ozyilmaz, Berk; Albayrak, Hatice Mutlu; Altundag, Engin; Alpaslan, Mediniye Karadag; Author abstract 318
Incidentally Detected Monogenic Diabetes Case. Evren, Bahri; Topaloglu, Omercan; Cetin, Sedat; Sahin, Ibrahim Clinical report 295
Investigation of Androgen Receptor Gen Mutation Spectrum in the Turkish Patients with Disorder of Sex Development. Onay, Huseyin; Ozen, Samim; Turk, Tuba Sozen; Darcan, Sukran; Atik, Tahir; Anik, Ahmet; Ercan, Oya; Report 355
Investigation of Association Between Paraoxonase-1 L55M (RS854560) and Q192R (RS662) Polymorphisms and Potential Atherosclerotic Risk Factors in PCOS Patients. Nalkiran, Hatice Sevim; Ayaz, Teslime; Nalkiran, Ihsan; Guzel, Ali Irfan; Durakoglugil, Tugba; Yildi Author abstract 337
Investigation of LDLR Gene Mutations in Turkish Patients with Familial Hypercholesterolemia. Okur, Ilyas; Ezgu, Fatih Suheyl; Inci, Asli; Olgac, Asburce Bike; Tumer, Leyla Brief article 191
Isolated Hypoaldosteronism: A Case Report. Turan, Ihsan; Gurbuz, Fatih; Tasdan, Mehmet; Kotan, Leman Damla; Topaloglu, Ali Kemal; Yuksel, Bilgi Clinical report 350
Late-Onset Congenital Adrenal Hyperplasia Diagnosed at 53 Years of Age. Saygili, Emre Sedar; Ozturk, Feyza Yener; Sen, Esra Cil; Erol, Rumeysa Selvinaz; Kesim, Belgin Erogl Clinical report 323
Major Depression and Fabry Disease: A Case Report. Sayiner, Zeynel Abidin; Eraydin, Ayten; Tabur, Suzan; Ozkaya, Mesut; Akarsu, Ersin; Araz, Mustafa Case study 288
MEN 2A Family. Pekkolay, Zafer; Soylu, Hikmet; Balsak, Belma Ozlem Tural; Guven, Mehmet; Tuzcu, Alpaslan Kemal Brief article 287
Menarcheal Age and Risk of Type 2 Diabetes: A Community-Based Cohort Study. Farahmand, Maryam; Tehrani, Fahimeh Ramezani; Dovom, Marzieh Rostami; Azizi, Fereidoun Report 5927
Monogenic Diabetes Case Presented with Symptomatic Hyperglycemia and Atypical Mutation. Topaloglu, Omercan; Evren, Bahri; Sahin, Ibrahim Brief article 290
Muscular Type Lipodystrophy Diagnosed with Neonatal Findings: Berardinelli-Seip Congenital Lipodystrophy Type 4 and Comparison Between the Types. Gunes, Nilay; Erkan, Tulay; Kutlu, Tufan; Onay, Huseyin; Ozkinay, Ferda; Tuysuz, Beyhan Case study 315
Mutation Spectrum of GCK, HNF1A, and HNF1B in MODY Patients and 40 Novel Mutations. Ozkinay, Ferda; Isik, Esra; Simsek, Damla Goksen; Aykut, Ayca; Karaca, Emin; Ozen, Samim; Bolat, Hil Brief article 264
New Chromosomal ins(6;7)(Q13:P22) Anomaly in Klinefelter Syndrome Detected Coincidentally in Patient with Signs of Primary Hypogonadism. Topaloglu, Omercan; Evren, Bahri; Yasar, Emine; Sahin, Ibrahim Case study 327
Non-Genetic Factors Altering Birth and Fertility Rates. Celebi, Dilara Brief article 172
Osteogenesis Imperfecta: Case Report. Kutbay, Nilufer Ozdemir; Yurekli, Banu Sarer; Ozisik, Hatice; Diri, Halit Case study 332
Parental View on the Terminology of Disorders of Sex Development. Tiryaki, Sibel; Tekin, Ali; Yagmur, Ismail; Ozen, Samim; Ozbaran, Burcu; Goksen, Damla; Darcan, Sukr Author abstract 328
Persistent Mullerian Duct Syndrome with Transverse Testicular Ectopia: A Novel Anti-Mullerian Hormone Receptor Mutation. Korkmaz, Ozlem; Ozen, Samim; Ozcan, Nurhan; Bayindir, Petek; Sen, Sait; Onay, Huseyin; Goksen, Damla Case study 1999
POU1F1 and PROP1 Gene Mutations in 4 Cases of Combined Pituitary Hormone Deficiency. Akgun, Bilcag; Karademir, Zehra; Isik, Esra; Darcan, Sukran; Aykut, Ayca; Durmaz, Asude; Ozen, Samim Report 344
Progeroid Syndrome Patients with ZMPSTE24 Deficiency Could Benefit When Treated with Rapamycin and Dimethylsulfoxide. Akinci, Baris; Sankella, Shireesha; Gilpin, Christopher; Ozono, Keeichi; Garg, Abhimanyu; Agarwal, A Report 316
PROP1-Related Combined Pituitary Hormone Deficiency: Case Report. Paketci, Ahu; Acar, Sezer; Demir, Korcan; Abaci, Ayhan; Bober, Ece Case study 348
PTPN11, SOS1, and BRAF Gene Mutation Spectrum in RASopathies in Molecular Diagnosis. Asikovali, Semih; Aykut, Ayca; Durmaz, Asude; Onay, Huseyin; Hazan, Filiz; Ozen, Samim; Atik, Tahir; Author abstract 383
Response to Anastrozole Treatment in a Case with Peutz-Jeghers Syndrome and a Large Cell Calcifying Sertoli Cell Tumor. Yekeduz, Merve Koc; Siklar, Zeynep; Burgu, Berk; Kuloglu, Zarife; Kocaay, Pinar; Camtosun, Emine; Is Clinical report 2744
Schmid Type of Metaphyseal Chondrodysplasia with COL10A1 Mutation. Cimbek, Emine Ayca; Sen, Yasar; Sen, Askin; Yuca, Sevil Ari; Bugrul, Fuat Brief article 188
Serum Irisin and Oxytocin Levels as Predictors of Metabolic Parameters in Obese Children. Binay, Cigdem; Paketci, Cem; Guzel, Savas; Samanci, Nedim Report 6061
Six 11-Beta Hydroxylase Deficiency Patients: Identification of Two Novel Mutations. Onay, Huseyin; Isik, Esra; Ozen, Samim; Kavasoglu, Ayse Nur; Simsir, Ilgin Yildirim; Atik, Tahir; Yu Author abstract 249
The Effectiveness of Cinacalcet as an Adjunctive Therapy for Hereditary 1,25 Dihydroxyvitamin [D.sub.3]-Resistant Rickets. Akinci, Aysehan; Dundar, Ismail; Kivilcim, Meltem Report 4316
The Mutation Spectrum of DHCR7 Gene and Two Novel Mutations. Isik, Esra; Onay, Huseyin; Akgun, Bilcag; Atik, Tahir; Aykut, Ayca; Durmaz, Asude; Dundar, Munis; Ku Brief article 247
The Relationship Between Gestational Diabetes Mellitus and Selenoprotein-P Plasma 1 (SEPP1) Gene Polymorphisms. Akbaba, Gulhan; Akbaba, Eren; Sahin, Cem; Kara, Murat Author abstract 336
The Role of Adenovirus Serotype 36 in Childhood Obesity. Sanlidag, Tamer; Sanlidag, Burcin; Arikan, Ayse; Akcan, Nese; Bundak, Ruveyde; Uncu, Murat; Onder, N Author abstract 367
Thyroid Hormone Resistance P453A Mutation. Ugurlu, Aylin Kilinc; Doger, Esra; Akbas, Emine Demet; Bideci, Aysun; Camurdan, Orhun; Cinaz, Peyami Case study 313
Two Cases of Klinefelter Syndrome. Ozisik, Hatice; Yurekli, Banu Sarer; Kutbay, Nilufer Ozdemir; Onay, Huseyin; Erdogan, Mehmet; Cetink Clinical report 345
Two Cases of Testicular Adrenal Rest Tumor (TART). Ozisik, Hatice; Yurekli, Banu Sarer; Simsir, Ilgin Yildirim; Altun, Ilker; Soyaltin, Utku; Guler, Ez Report 374
Two Siblings with Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II). Isik, Emregul; Jackson, Andrew Brief article 305
Warburg Micro Syndrome: A New Case from Consanguineous Parents. Guven, Ayla Case study 287
Williams Syndrome Associated with Isolated Growth Hormone Deficiency: Is It Just a Coincidence? Ogur, Gonul; Kara, Cengiz; Yalcin, Hatice Yelda; Yilmaz, Aysegul; Altundag, Engin; Abur, Ummet; Bays Case study 359

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