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

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