Devletleri Massachusetts General Hospital-Harvard Medical School da hipofosfatemik rikets, psödohipoparatiroidi Birleşik

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Prof.Dr. SERAP DEMİRCİOĞLU Prof.Dr. SERAP DEMİRCİOĞLU Kişisel Bilgiler

Kişisel Bilgiler

E-po sta:

E-po sta: serap.turan@marmara.edu.tr W eb:

W eb: https://avesis.marmara.edu.tr/serap.turan

Biyografi Biyografi

Marmara Üniversitesi Çocuk Sağlığı ve Hastalıkları Bilim Dalında pediyatri uzmanlık eğitimimi tamamladıktan sonra, aynı üniversitede Çocuk Endokrinoloji yan dal eğitimi aldım. Yan dal eğitimi sırasında uluslararası pek çok eğitim faaliyetine bilimsel toplantı ve bilim okulları olarak katılarak sunumlar yaptım. Yan dal eğitimimi tamamladıktan sonra klinik eğitimimi temel bilimler ile birleştirmek istedim ve de TUBİTAK ve Fulbright’tan aldığım burslar ile Amerika Birleşik Devletleri Massachusetts General Hospital-Harvard Medical School’da hipofosfatemik rikets, psödohipoparatiroidi ve metilasyon bozuklukları alanında moleküler genetik çalışmalar yaptım. Türkiye’ye döndükten sonra bu konuda çalışmalarım ve farklı merkezler ile işbirliğim devam etti. 2010 yılında European Society for Paediatric Endocrinology (ESPE) ‘Sabbatical Leave Programme’ desteği ile 1 yıl süre yine aynı merkezde ‘visiting scientist’ olarak

psödohipoparatiroidi (PHP) etiyo-patogenezi konusunda GNAS knock-out fare modellerinde çalışmalar yaptım. Halen, ESPE bünyesinde kurulan PHP grubunun aktif bir üyesi olarak Avrupa’da yapılan çalışmalara ve konsensus

toplantılarına katılmaktayım. Avrupa Birliği Projesi olan COST Action BM10208- European Network for Human Congenital Imprinting Disorders çalışma grubunun aksiyon ortağı olarak Türkiye’yi temsil etmekteyim.

European Society for Paediatric Endocrinology (ESPE) tarafından Annual ESPE Meetingleri’nin program organizasyon komitesinde 4 yıl boyunca görev yapmak üzere 2010 yılında seçildim ve bu görevi 2014 yılında tamamladım. ESPE’nin bilim okulu olan Winter School’da ‘Teaching Faculty’ olarak 2015 yılında göreve başladım. European Society for

Paediatric Endocrinology 1962 yılında Avrupa Pediyatrik Endokrinoloji camiası tarafından kurulmuş olup, görev aldığım her iki pozisyon için de görev verilen ilk Türk bilim insanı olmam önem arz etmektedir.

İlk tip 1 diyabet prevelans çalışmasının ülkemizde okul çalışması kapsamında yapılmasında, sorumlu araştırmacı olarak görev aldım ve bu çalışmanın sonuçlarına göre okulda diyabet programının oluşturulmasında çalıştım. Diyabet 2020 projesi ve Sağlık Bakanlığı Diyabet programında raportör olarak görev aldım.

Journal of Pediatric Endocrinology and Metabolism ve Journal of Clinical Research in Pediatric Endocrinology

dergilerinde yardımcı editörlük yapmanın yanı sıra pek çok dergi için yayın değerlendirmesi yapmaktayım. 2008’den bu yana Faculty of 1000 Prime’de Associate Faculty Member olarak yayın değerlendirmesi yapıyorum.

Ayrıca, Avrupa Birliği Çerçeve Programı ‘imprinting Disorders’ EURCOST çerçevesinde proje yürüttüm.

Eğitim Bilgileri Eğitim Bilgileri

Lisans Yandal, Marmara Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Türkiye 2001 - 2004 Lisans, Marmara Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Türkiye 1995 - 2000 Ön Lisans, Hacettepe Üniversitesi, Tıp Fakültesi (İngilizce), Türkiye 1988 - 1995

Yabancı Diller Yabancı Diller

İngilizce, C1 İleri

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Araştırma Alanları Araştırma Alanları

Sağlık Bilimleri

Akademik Unvanlar / Görevler Akademik Unvanlar / Görevler

Prof.Dr., Marmara Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, 2015 - Devam Ediyor Doç.Dr., Marmara Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, 2009 - 2015

Verdiği Dersler Verdiği Dersler

Obesity Modul, Lisans, 2021 - 2022

Diagnostic procedures , Lisans, 2021 - 2022 Childhood obesity, Lisans, 2021 - 2022 Metabolic Bone Diseases, Lisans, 2021 - 2022

Puberte prekoks, boy kısalığı, endokrin hastalıklar yaklaşım, Yüksek Lisans, 2021 - 2022 Diabetic Ketoacidosis, Lisans, 2021 - 2022

Yönetilen Tezler Yönetilen Tezler

Demircioğlu Turan S., Obez çocuklarda bazal metabolik hız ve subklinik hipotiroidinin bazal metabolik hıza etkisi, Tıpta Uzmanlık, N.MUZAFFAROVA(Öğrenci), 2016

Demircioğlu Turan S., Biyokimya laboratuvarında alkalen fosfataz düşüklüğü tespit edilen hastaların hipofosfatazya açısından incelenmesi, Tıpta Uzmanlık, R.BAYRAMLI(Öğrenci), 2016

Demircioğlu Turan S., Boy kısalığı olan hastalarda özellikler ve etiyolojik dağılım, Tıpta Uzmanlık, S.ÖZCAN(Öğrenci), 2015

Demircioğlu S., Fibroblast büyüme faktörü-23 (FGF-23) ve matriks ekstraselüler fosfoglikoproteinin (MEPE) sağlıklı bireylerde yaşa ve cinse özgü referans değerlerinin belirlenerek fosfat regülasyonundaki rollerinin araştırılması, Tıpta Uzmanlık, A.ÖZŞEN(Öğrenci), 2012

Jüri Üyelikleri Jüri Üyelikleri

Tez Savunma (Doktora), Tez Savunma (Doktora), Yeditepe Üniversitesi, Ekim, 2021 Doçentlik Sınavı, Doçentlik Sınavı, Marmara Üniversitesi, Mayıs, 2021

Akademik Kadroya Atama, Akademik Kadroya Atama, Acıbadem Mehmet Ali Aydınlar Üniversitesi, Nisan, 2021 Doçentlik Sınavı, Doçentlik Sınavı, Marmara Üniversitesi, Ocak, 2021

Doçentlik Sınavı, Doçentlik Sınavı, Marmara Üniversitesi, Ekim, 2020 Doçentlik Sınavı, Doçentlik Sınavı, Marmara Üniversitesi, Mart, 2020

SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler

I. A no vel deletio n invo lving the first GNAS exo n enco ding Gsα causes PHP1A witho ut methylatio nA no vel deletio n invo lving the first GNAS exo n enco ding Gsα causes PHP1A witho ut methylatio n changes at exo n A/B

changes at exo n A/B

Campbell D., Reyes M., Kaygusuz S. B. , Abalı S., Güran T., Bereket A., Kagami M., Turan S., Jüppner H.

Bone, cilt.157, 2022 (SCI Expanded İndekslerine Giren Dergi)

II. Ho mo zygo sity fo r a no vel INHA mutatio n in two male siblings with hypo spadias, primaryHo mo zygo sity fo r a no vel INHA mutatio n in two male siblings with hypo spadias, primary hypo go nadism, and high no rmal testicular vo lume.

hypo go nadism, and high no rmal testicular vo lume.

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Arslan Ateş E., Eltan M., Sahin B., Gurpinar Tosun B., Seven Menevse T., Geckinli B. B. , Greenfield A., Turan S., Bereket A., Güran T.

European journal of endocrinology, 2022 (SCI Expanded İndekslerine Giren Dergi)

III. Stero id ho rmo ne pro files and mo lecular diagno stic to o ls in pediatric patients with no n-CAH primaryStero id ho rmo ne pro files and mo lecular diagno stic to o ls in pediatric patients with no n-CAH primary adrenal insufficiency.

adrenal insufficiency.

Seven Menevse T., Kendir Demirkol Y., Gurpinar Tosun B., Bayramoglu E., Yildiz M., Acar S., Erisen Karaca S., Orbak Z., Onder A., Sobu E., et al.

The Journal of clinical endocrinology and metabolism, 2022 (SCI Expanded İndekslerine Giren Dergi) IV. No n-ho rmo nal Clito ro megaly due to Clito ral Priapism Caused by Appendicitis/Appendecto my.No n-ho rmo nal Clito ro megaly due to Clito ral Priapism Caused by Appendicitis/Appendecto my.

Gurpinar Tosun B., Karagozlu Akgul A., Almus E., Abidoglu S., Turan S., Bereket A., Guran T.

Journal of clinical research in pediatric endocrinology, sa.4, 2021 (SCI Expanded İndekslerine Giren Dergi) V. L ack o f GNAS re-methylatio n during o o genesis may be a cause o f spo radicL ack o f GNAS re-methylatio n during o o genesis may be a cause o f spo radic

pseudo hypo parathyro idism type Ib (PHP1B).

Milioto A., Reyes M., Hanna P., Kiuchi Z., Turan S., Zeve D., Agarwal C., Grigelioniene G., Chen A., Mericq V., et al.

The Journal of clinical endocrinology and metabolism, 2021 (SCI Expanded İndekslerine Giren Dergi) VI. F amilial Hypo magnesemia with Hypercalciuria and Nephro calcino sis D ue to CL D N16 GeneF amilial Hypo magnesemia with Hypercalciuria and Nephro calcino sis D ue to CL D N16 Gene

Mutatio ns: No vel F indings in Two Cases with D iverse Clinical F eatures Mutatio ns: No vel F indings in Two Cases with D iverse Clinical F eatures

Eltan M., Abali Z. Y. , Turkyilmaz A., Gökce İ., Abali S., Alavanda C., Arman A., Kırkgöz T., Güran T., Hatun S., et al.

CALCIFIED TISSUE INTERNATIONAL, 2021 (SCI İndekslerine Giren Dergi)

VII. L o ng-term efficacy o f T3 analo gue Triac in children and adults with MCT8 deficiency: a real-lifeL o ng-term efficacy o f T3 analo gue Triac in children and adults with MCT8 deficiency: a real-life retro spective co ho rt study.

retro spective co ho rt study.

Van Geest F. S. , Groeneweg S., Van Den Akker E. L. T. , Bacos I., Barca D., Van Den Berg S. A. A. , Bertini E., Brunner D., Brunetti-Pierri N., Cappa M., et al.

The Journal of clinical endocrinology and metabolism, 2021 (SCI Expanded İndekslerine Giren Dergi) VIII. Bro ad-spectrum XX and XY go nadal dysgenesis in patients with a ho mo zygo us L 193S variant inBro ad-spectrum XX and XY go nadal dysgenesis in patients with a ho mo zygo us L 193S variant in

PPP2R3C.

Cicek D., Warr N., Yesil G., Kocak Eker H., Bas F., Poyrazoglu S., Darendeliler F., Direk G., Hatipoglu N., Eltan M., et al.

European journal of endocrinology, 2021 (SCI Expanded İndekslerine Giren Dergi)

IX. D ysgenesis and D ysfunctio n o f the Pancreas and Pituitary D ue to F OXA2 Gene D efects.D ysgenesis and D ysfunctio n o f the Pancreas and Pituitary D ue to F OXA2 Gene D efects.

Kaygusuz S. B. , Arslan Ates E., Vignola M. L. , Volkan B., Geckinli B. B. , Turan S., Bereket A., Gaston-Massuet C., Guran T.

The Journal of clinical endocrinology and metabolism, cilt.106, sa.10, 2021 (SCI Expanded İndekslerine Giren Dergi)

X. Co rrelatio n o f 11-o xygenated C19 andro gens with the clinical and bio chemical characteristics inCo rrelatio n o f 11-o xygenated C19 andro gens with the clinical and bio chemical characteristics in premature adrenarche

premature adrenarche

Abali Z. Y. , Eltan M., Helvacioglu D., Yaman A., Demircioğlu S., Bereket A., Güran T.

HORMONE RESEARCH IN PAEDIATRICS, cilt.94, sa.SUPPL 1, ss.120-121, 2021 (SCI İndekslerine Giren Dergi) XI. Adreno co rtical ho rmo ne pro files do no t predict the mo lecular etio lo gy in no n-CAH primary adrenalAdreno co rtical ho rmo ne pro files do no t predict the mo lecular etio lo gy in no n-CAH primary adrenal

insufficiency insufficiency

Seven Menevşe T., Demirkol Y. K. , Gürpınar Tosun B., Bayramoglu E., Yildiz M., Acar S., Karaca S. E. , Orbak Z., Onder A., Sobu E., et al.

HORMONE RESEARCH IN PAEDIATRICS, cilt.94, sa.SUPPL 1, ss.64-65, 2021 (SCI İndekslerine Giren Dergi) XII. Biallelic PPP2R3C mutatio ns are asso ciated with partial and co mplete go nadal dysgenesis in 46,XYBiallelic PPP2R3C mutatio ns are asso ciated with partial and co mplete go nadal dysgenesis in 46,XY

and 46,XX individuals and 46,XX individuals

Çiçek D., Warr N., Yesil G., Eker H. K. , Bas F., Poyrazoglu S., Darendeliler F., Direk G., Hatipoğlu N., Eltan M., et al.

HORMONE RESEARCH IN PAEDIATRICS, cilt.94, sa.SUPPL 1, ss.92, 2021 (SCI İndekslerine Giren Dergi) XIII. 46,XY D SD due to biallelic D HX37 gene mutatio ns46,XY D SD due to biallelic D HX37 gene mutatio ns

Eltan M., Helvacioglu D., Ates E. A. , Abali Z. Y. , Demircioğlu S., Bereket A., Güran T.

HORMONE RESEARCH IN PAEDIATRICS, cilt.94, sa.SUPPL 1, ss.393-394, 2021 (SCI İndekslerine Giren Dergi) XIV. Rahman Syndro me: Hypo pituitarism might be respo nsible fo r changing height patternRahman Syndro me: Hypo pituitarism might be respo nsible fo r changing height pattern

Kaygusuz S. B. , Demircioğlu S., Esen N., Bereket A., Yesilyurt A., Güran T.

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HORMONE RESEARCH IN PAEDIATRICS, cilt.94, sa.SUPPL 1, ss.359, 2021 (SCI İndekslerine Giren Dergi) XV. Is quail egg a po tential endo crine disrupto r?Is quail egg a po tential endo crine disrupto r?

Sürekli Karakuş Ö., Arabacı Tamer S., Levent H. N. , Kaygusuz S. B. , Demircioğlu S., Akakın D., Güran T., Yegen B., Bereket A.

HORMONE RESEARCH IN PAEDIATRICS, cilt.94, sa.SUPPL 1, ss.364, 2021 (SCI İndekslerine Giren Dergi) XVI. Endo crine disrupting chemicals and bo ne.Endo crine disrupting chemicals and bo ne.

Turan S.

Best practice & research. Clinical endocrinology & metabolism, cilt.35, 2021 (SCI İndekslerine Giren Dergi) XVII. Machine L earning Quest fo r Predictive Markers o f L ifestyle Mo dificatio n Outco mes in PediatricMachine L earning Quest fo r Predictive Markers o f L ifestyle Mo dificatio n Outco mes in Pediatric

Obesity Treatment Obesity Treatment

Gawlik A., Shmoish M., BEREKET A., Wasniewska M., Antosz A., Kirkgoz T., DEMİRCİOĞLU S., GÜRAN T., Aversa T., Corica D., et al.

HORMONE RESEARCH IN PAEDIATRICS, cilt.94, sa.SUPPL 1, ss.275, 2021 (SCI İndekslerine Giren Dergi)

XVIII. Geno typic Sex and Severity o f the D isease D etermine the Time o f Clinical Presentatio n in Stero id 17Geno typic Sex and Severity o f the D isease D etermine the Time o f Clinical Presentatio n in Stero id 17 alpha-Hydro xylase/17,20-L yase D eficiency

alpha-Hydro xylase/17,20-L yase D eficiency

Kurnaz E., Baykan E. K. , Turkyilmaz A., Yarali O., Abali Z. Y. , Demircioğlu S., Bereket A., Cayir A., Güran T.

HORMONE RESEARCH IN PAEDIATRICS, cilt.94, sa.SUPPL 1, ss.191, 2021 (SCI İndekslerine Giren Dergi) XIX. Severe Hypo pho sphatemic Rickets due to Tumo r-Induced Osteo malasiaSevere Hypo pho sphatemic Rickets due to Tumo r-Induced Osteo malasia

HALİLOĞLU B., Pehlivan E., Yilmaz D., Cift H. T. , Tasdelen N., Sav A., ALAN SELÇUK N., DEMİRCİOĞLU S.

HORMONE RESEARCH IN PAEDIATRICS, cilt.94, sa.SUPPL 1, ss.209, 2021 (SCI İndekslerine Giren Dergi) XX. Acetazo lamide treatment in a patient with pseudo hypo parathyro idism with veno us calcificatio nAcetazo lamide treatment in a patient with pseudo hypo parathyro idism with veno us calcificatio n

Seven Menevşe T., Gürpınar Tosun B., Abali Z. Y. , Helvacioglu D., Kaygusuz S. B. , Eltan M., Buğdaycı O., Güran T., Bereket A., Demircioğlu S.

HORMONE RESEARCH IN PAEDIATRICS, cilt.94, sa.SUPPL 1, ss.75, 2021 (SCI İndekslerine Giren Dergi) XXI. Adrenal stero ids reference ranges in infancy determined by L C-MS/MSAdrenal stero ids reference ranges in infancy determined by L C-MS/MS

Enver E. O. , Vatansever P., Guran O., Bilgin L., Boran P., Demircioğlu S., Haklar G., Bereket A., Güran T.

PEDIATRIC RESEARCH, 2021 (SCI İndekslerine Giren Dergi)

XXII. Clinical and Ho rmo nal Pro files Co rrelate W ith Mo lecular Characteristics in Patients W ith 11 beta-Clinical and Ho rmo nal Pro files Co rrelate W ith Mo lecular Characteristics in Patients W ith 11 beta- Hydro xylase D eficiency

Hydro xylase D eficiency

Yildiz M., Isik E., Abali Z. Y. , Keskin M., Ozbek M. N. , Bas F., Ucakturk S. A. , Buyukinan M., Onal H., Kara C., et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, cilt.106, sa.9, 2021 (SCI İndekslerine Giren Dergi) XXIII. A rare cause o f hypercalcemia: Co ngenital L actase D eficiencyA rare cause o f hypercalcemia: Co ngenital L actase D eficiency

Eltan M., Alavanda C., Abalı S., Abali Z. Y. , Kaygusuz S. B. , Gürpınar Tosun B., Seven Menevşe T., Helvacioglu D., Güran T., Ata P., et al.

HORMONE RESEARCH IN PAEDIATRICS, cilt.94, sa.SUPPL 1, ss.75, 2021 (SCI İndekslerine Giren Dergi) XXIV. Hyperinsulinemic hypo glycemia due to biallelic mutatio ns in the D NAJC3 geneHyperinsulinemic hypo glycemia due to biallelic mutatio ns in the D NAJC3 gene

Gürpınar Tosun B., Seven Menevşe T., Esen N., Demircioğlu S., Yesilyurt A., Güran T., Bereket A.

HORMONE RESEARCH IN PAEDIATRICS, cilt.94, sa.SUPPL 1, ss.107, 2021 (SCI İndekslerine Giren Dergi)

XXV. Clinical and ho rmo nal evo lutio n o f aldo stero ne synthase deficiency: Is co mplete remissio n po ssible?Clinical and ho rmo nal evo lutio n o f aldo stero ne synthase deficiency: Is co mplete remissio n po ssible?

Gürpınar Tosun B., Demirkol Y. K. , Seven Menevşe T., Kaygusuz S. B. , Ozbek M. N. , Altıncık S. A. , Mammadova J., Cayir A., Döğer E., Bayramoglu E., et al.

HORMONE RESEARCH IN PAEDIATRICS, cilt.94, sa.SUPPL 1, ss.184-185, 2021 (SCI İndekslerine Giren Dergi) XXVI. Catch-up gro wth and disco ntinuatio n o f fludro co rtiso ne treatment in aldo stero ne synthaseCatch-up gro wth and disco ntinuatio n o f fludro co rtiso ne treatment in aldo stero ne synthase

deficiency.

Gurpinar Tosun B., Kendir Demirkol Y., Seven Menevse T., Kaygusuz S. B. , Ozbek M. N. , Altincik S. A. , Mammadova J., Cayir A., Doger E., Bayramoglu E., et al.

The Journal of clinical endocrinology and metabolism, 2021 (SCI Expanded İndekslerine Giren Dergi)

XXVII. Efficacy o f the No vel D egludec/Aspart Insulin Co -fo rmulatio n in Children and Ado lescents with TypeEfficacy o f the No vel D egludec/Aspart Insulin Co -fo rmulatio n in Children and Ado lescents with Type 1 D iabetes: A Real-life Experience with 1-year ID eg/Asp Therapy in Po o rly Co ntro lled and No n- 1 D iabetes: A Real-life Experience with 1-year ID eg/Asp Therapy in Po o rly Co ntro lled and No n- co mpliant Patients.

co mpliant Patients.

Kirkgoz T., Eltan M., Kaygusuz S. B. , Yavas Abali Z., Helvacioglu D., Seven Menevse T., Gurpinar Tosun B., Guran T.,

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Bereket A., Turan S.

Journal of clinical research in pediatric endocrinology, 2021 (SCI Expanded İndekslerine Giren Dergi) XXVIII. Cranial MRI Abno rmalities and L o ng-term F o llo w-up o f the L esio ns in 770 Girls W ith CentralCranial MRI Abno rmalities and L o ng-term F o llo w-up o f the L esio ns in 770 Girls W ith Central

Preco cio us Puberty.

Helvacıoğlu D., Demircioğlu Turan S., Güran T., Atay Z., Dağçınar A., Bezen D., Karakılıç Özturan E., Darendeliler F., Yüksel A., Dursun F., et al.

The Journal of clinical endocrinology and metabolism, cilt.106, sa.7, 2021 (SCI Expanded İndekslerine Giren Dergi) XXIX. Use o f Insulin D egludec/Insulin Aspart in the Management o f D iabetes Mellitus: Expert PanelUse o f Insulin D egludec/Insulin Aspart in the Management o f D iabetes Mellitus: Expert Panel

Reco mmendatio ns o n Appro priate Practice Patterns Reco mmendatio ns o n Appro priate Practice Patterns

Demir T., Demircioğlu S., Ünlühizarcı K., Topaloglu O., Tukek T., Yavuz D.

FRONTIERS IN ENDOCRINOLOGY, cilt.12, 2021 (SCI İndekslerine Giren Dergi)

XXX. D o es Geno type–Pheno type Co rrelatio n Exist in Vitamin D -D ependent Rickets Type IA: Repo rt o f 13D o es Geno type–Pheno type Co rrelatio n Exist in Vitamin D -D ependent Rickets Type IA: Repo rt o f 13 New Cases and Review o f the L iterature

New Cases and Review o f the L iterature

Kaygusuz S. B. , Alavanda C., Kırkgöz T., Eltan M., Yavas Abali Z., Helvacioglu D., Güran T., Ata P., Bereket A., Demircioğlu S.

Calcified Tissue International, 2021 (SCI Expanded İndekslerine Giren Dergi)

XXXI. Cinacalcet as a F irst-L ine Treatment in Neo natal Severe Hyperparathyro idism Seco ndary to CalciumCinacalcet as a F irst-L ine Treatment in Neo natal Severe Hyperparathyro idism Seco ndary to Calcium Sensing Recepto r (CaSR) Mutatio n

Sensing Recepto r (CaSR) Mutatio n

Gulcan-Kersin S., Kirkgoz T., Eltan M., Rzayev T., Ata P., Bilgen H. S. , Özek E., Bereket A., Turan S.

HORMONE RESEARCH IN PAEDIATRICS, cilt.93, sa.5, ss.313-321, 2020 (SCI İndekslerine Giren Dergi) XXXII. Persistent Mullerian D uct Syndro me: A Rare But Impo rtant Etio lo gy o f Inguinal Hernia andPersistent Mullerian D uct Syndro me: A Rare But Impo rtant Etio lo gy o f Inguinal Hernia and

Crypto rchidism Crypto rchidism

Bugrul F., Abali Z. Y. , Kırkgöz T., Karadeniz Cerit K., Canmemiş A., Demircioğlu S., Tugtepe H., Picard J., Bereket A., Güran T.

SEXUAL DEVELOPMENT, cilt.13, ss.264-270, 2020 (SCI İndekslerine Giren Dergi)

XXXIII. Reco mmendatio ns fo r D iagno sis and Treatment o f Pseudo hypo parathyro idism and RelatedReco mmendatio ns fo r D iagno sis and Treatment o f Pseudo hypo parathyro idism and Related D iso rders: An Updated Practical To o l fo r Physicians and Patients

D iso rders: An Updated Practical To o l fo r Physicians and Patients

Mantovani G., Bastepe M., Monk D., De Sanctis L., Thiele S., Ahmed S. F. , Bufo R., Choplin T., De Filippo G., Devernois G., et al.

HORMONE RESEARCH IN PAEDIATRICS, cilt.93, sa.3, ss.182-196, 2020 (SCI İndekslerine Giren Dergi) XXXIV. A Rare Cause o f Hypo pho sphatemia: Raine Syndro me Changing Clinical F eatures with AgeA Rare Cause o f Hypo pho sphatemia: Raine Syndro me Changing Clinical F eatures with Age

Eltan M., Alavanda C., Yavas Abali Z., Ergenekon P., Yalindag Ozturk N., Sakar M., Dağçınar A., Kırkgöz T., Kaygusuz S.

B. , Gökdemir Y., et al.

CALCIFIED TISSUE INTERNATIONAL, cilt.107, ss.96-103, 2020 (SCI İndekslerine Giren Dergi)

XXXV. Management o f Systemic Hypersensitivity Reactio ns to Go nado tro pin-Releasing Ho rmo ne Analo guesManagement o f Systemic Hypersensitivity Reactio ns to Go nado tro pin-Releasing Ho rmo ne Analo gues during Treatment o f Central Preco cio us Puberty

during Treatment o f Central Preco cio us Puberty

Kirkgoz T., Karakoc-Aydiner E., Bugrul F., Yavas Abali Z., Helvacioglu D., Kiykim A., Bilgic Eltan S., Aruci Kasap N., Baris S., Ozen A. O. , et al.

HORMONE RESEARCH IN PAEDIATRICS, cilt.93, sa.1, ss.66-72, 2020 (SCI İndekslerine Giren Dergi)

XXXVI. D isease characteristics o f MCT8 deficiency: an internatio nal, retro spective, multicentre co ho rt studyD isease characteristics o f MCT8 deficiency: an internatio nal, retro spective, multicentre co ho rt study Groeneweg S., Van Geest F. S. , Abacı A., Alcantud A., Ambegaonkar G. P. , Armour C. M. , Bakhtiani P., Barca D., Bertini E. S. , Van Beynum I. M. , et al.

LANCET DIABETES & ENDOCRINOLOGY, cilt.8, sa.7, ss.594-605, 2020 (SCI İndekslerine Giren Dergi) XXXVII. Clinical Significance o f Hypo pho sphatasemia in ChildrenClinical Significance o f Hypo pho sphatasemia in Children

Bayramli R., Cevlik T., Güran T., Atay Z., Bas S., Haklar G., Bereket A., Demircioğlu S.

CALCIFIED TISSUE INTERNATIONAL, cilt.106, sa.6, ss.608-615, 2020 (SCI İndekslerine Giren Dergi) XXXVIII. Natio nwide Turkish Co ho rt Study o f Hypo pho sphatemic RicketsNatio nwide Turkish Co ho rt Study o f Hypo pho sphatemic Rickets

Şıklar Z., Demircioğlu S., Bereket A., Bas F., Güran T., Akberzade A., Abacı A., Demir K., Böber E., Ozbek M. N. , et al.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, cilt.12, sa.2, ss.150-159, 2020 (SCI İndekslerine Giren Dergi)

XXXIX. Once-W eekly So mapacitan vs D aily GH in Children W ith GH D eficiency: Results F ro m a Rando mizedOnce-W eekly So mapacitan vs D aily GH in Children W ith GH D eficiency: Results F ro m a Rando mized

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Phase 2 Trial Phase 2 Trial

Sävendahl L., Battelino T., Brod M., Rasmussen M. H. , Horikawa R., Juul R. V. , Saenger P., Furthner D., Piringer B., Auer-Hackenberg L., et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, cilt.105, sa.4, 2020 (SCI İndekslerine Giren Dergi) XL. F ibro blast Gro wth F acto r-23 and Matrix Extracellular Pho spho glyco pro tein L evels in HealthyF ibro blast Gro wth F acto r-23 and Matrix Extracellular Pho spho glyco pro tein L evels in Healthy

Children and, Pregnant and Puerperal W o men Children and, Pregnant and Puerperal W o men Ozsen A., Furman A., Güran T., Bereket A., Demircioğlu S.

XLI. Hereditary vitamin D -resistant rickets: a repo rt o f fo ur cases with two no vel variants in the VD RHereditary vitamin D -resistant rickets: a repo rt o f fo ur cases with two no vel variants in the VD R gene and successful use o f intermittent intraveno us calcium via a peripheral ro ute

gene and successful use o f intermittent intraveno us calcium via a peripheral ro ute

Abali S., Tamura M., DEMİRCİOĞLU S., Atay Z., Isguven P., GÜRAN T., Haliloglu B., Bas S., Isojima T., Kitanaka S., et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.33, sa.4, ss.557-562, 2020 (SCI İndekslerine Giren Dergi)

XLII. Revisiting Classical 3 beta-hydro xystero id D ehydro genase 2 D eficiency: L esso ns fro m 31 PediatricRevisiting Classical 3 beta-hydro xystero id D ehydro genase 2 D eficiency: L esso ns fro m 31 Pediatric Cases

Cases

Güran T., Kara C., Yildiz M., Bitkin E. C. , Haklar G., Lin J., Keskin M., Barnard L., Anık A., Çatlı G., et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, cilt.105, sa.4, 2020 (SCI İndekslerine Giren Dergi) XLIII. L o w D HEAS Co ncentratio n in a Girl Presenting with Sho rt Stature and Premature Pubarche: A No velL o w D HEAS Co ncentratio n in a Girl Presenting with Sho rt Stature and Premature Pubarche: A No vel

PAPSS2 Gene Mutatio n PAPSS2 Gene Mutatio n

Eltan M., Yavas Abali Z., Arslan Ates E., Kırkgöz T., Kaygusuz S. B. , Türkyllmaz A., Bereket A., Turan S., Güran T.

Hormone Research in Paediatrics, cilt.92, sa.4, ss.262-268, 2020 (SCI İndekslerine Giren Dergi)

XLIV. Rapid pro gressio n o f type 2 diabetes and related co mplicatio ns in children and yo ung peo ple-ARapid pro gressio n o f type 2 diabetes and related co mplicatio ns in children and yo ung peo ple-A literature review

literature review

Barrett T., Jalaludin M. Y. , DEMİRCİOĞLU S., Hafez M., Shehadeh N.

PEDIATRIC DIABETES, cilt.21, sa.2, 2020 (SCI İndekslerine Giren Dergi)

XLV. Rare cause o f severe hypertensio n in an ado lescent bo y presenting with sho rt stature: Questio nsRare cause o f severe hypertensio n in an ado lescent bo y presenting with sho rt stature: Questio ns Yavas A., Yesil G., Kirkgoz T., Cicek N., Alpay H., Turan S., Bereket A., Guran T.

PEDIATRIC NEPHROLOGY, cilt.35, sa.3, ss.403-404, 2020 (SCI İndekslerine Giren Dergi)

XLVI. Rare cause o f severe hypertensio n in an ado lescent bo y presenting with sho rt stature: AnswersRare cause o f severe hypertensio n in an ado lescent bo y presenting with sho rt stature: Answers Yavas A., Yesil G., Kirkgoz T., Cicek N., Alpay H., Turan S., Bereket A., Guran T.

XLVII. Reco mmendatio ns fo r impro ving clinical trial design to facilitate the study o f yo uth-o nset type 2Reco mmendatio ns fo r impro ving clinical trial design to facilitate the study o f yo uth-o nset type 2 diabetes

diabetes

Jalaludin M. Y. , Barrientos-Pérez M., Hafez M., Lynch J., Shehadeh N., Turan S., Weghuber D.

Clinical Trials, cilt.17, sa.1, ss.87-98, 2020 (SCI İndekslerine Giren Dergi)

XLVIII. Resto ratio n o f Height after 11 Years o f L etro zo le Treatment in 11 beta-Hydro xylase D eficiencyResto ratio n o f Height after 11 Years o f L etro zo le Treatment in 11 beta-Hydro xylase D eficiency Atay Z., Turan S., Buǧdaycl O., GÜRAN T., BEREKET A.

XLIX. Adreno co rtical carcino ma in atypical Beckwith-W iedemann syndro me due to lo ss o f methylatio n atAdreno co rtical carcino ma in atypical Beckwith-W iedemann syndro me due to lo ss o f methylatio n at imprinting co ntro l regio n 2

imprinting co ntro l regio n 2

Eltan M., Arslan A., Cerit K., Menevse T., Kaygusuz S., Eker N., Bagci P., Ergelen R., Turan S., Bereket A., et al.

PEDIATRIC BLOOD & CANCER, cilt.67, sa.1, 2020 (SCI İndekslerine Giren Dergi)

L. Geno typic Sex and Severity o f the D isease D etermine the Time o f Clinical Presentatio n in Stero idGeno typic Sex and Severity o f the D isease D etermine the Time o f Clinical Presentatio n in Stero id 17α-Hydro xylase/17,20-L yase D eficiency.

17α-Hydro xylase/17,20-L yase D eficiency.

Kurnaz E., Kartal Baykan E., Türkyılmaz A., Yaralı O., Yavaş Abalı Z., Turan S., Bereket A., Çayır A., Guran T.

Hormone research in paediatrics, cilt.93, sa.9-10, ss.558-566, 2020 (SCI Expanded İndekslerine Giren Dergi) LI. A rare cause o f hypertensio n in childho o d: AnswersA rare cause o f hypertensio n in childho o d: Answers

Kucuk N., Yavas Abalı Z., ABALI S., Canpolat N., YEŞİL G., Turan S., BEREKET A., GÜRAN T.

Pediatric Nephrology, cilt.35, sa.1, ss.79-82, 2020 (SCI İndekslerine Giren Dergi) LII. A rare cause o f hypertensio n in childho o d: Questio nsA rare cause o f hypertensio n in childho o d: Questio ns

Kucuk N., Yavas A., Abali S., Canpolat N., Yesil G., Turan S., Bereket A., Guran T.

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LIII. L etter to the Edito r: D yso steo sclero sis related to the unique mutatio n in SL C29A3L etter to the Edito r: D yso steo sclero sis related to the unique mutatio n in SL C29A3 Turan S.

Bone, cilt.128, 2019 (SCI İndekslerine Giren Dergi)

LIV. Characteristics o f Turkish children with Type 2 diabetes at o nset: a multicentre, cro ss-sectio nalCharacteristics o f Turkish children with Type 2 diabetes at o nset: a multicentre, cro ss-sectio nal study.

study.

Hatun S., Yesiltepe Mutlu G., Cinaz P., Turan S., Ekberzade A., Bereket A., Erbas M., Akcay T., Onal H., Bolu S., et al.

Diabetic medicine : a journal of the British Diabetic Association, cilt.36, sa.10, ss.1243-1250, 2019 (SCI Expanded İndekslerine Giren Dergi)

LV. Rare Causes o f Osteo genesis Imperfecta are Co mmo n in Co nsanguineo us PedigreesRare Causes o f Osteo genesis Imperfecta are Co mmo n in Co nsanguineo us Pedigrees

Kaygusuz S. B. , Arman A., Abalı S., Ata P., Kırkgöz T., Eltan M., Abali Z. Y. , Helvacioglu D., Tosun B. G. , Menevse T. S. , et al.

HORMONE RESEARCH IN PAEDIATRICS, cilt.91, ss.214, 2019 (SCI İndekslerine Giren Dergi)

LVI. Hypergo nado tro pic hypo go nadism in 46, XX ado lescents witho ut go nado to xic therapy: ClinicalHypergo nado tro pic hypo go nadism in 46, XX ado lescents witho ut go nado to xic therapy: Clinical features and mo lecular etio lo gies

features and mo lecular etio lo gies

Abali Z. Y. , Jolly A., GÜRAN T., Bayram Y., ABALI S., Bas S., Akdemir Z. C. , Posey J. E. , Helvacioglu D., KIRKGÖZ T., et al.

LVII. Geno type and Pheno type Characterizatio n o f Turkish Patients with Vitamin D D ependent RicketsGeno type and Pheno type Characterizatio n o f Turkish Patients with Vitamin D D ependent Rickets Type IA

Type IA

Kaygusuz S. B. , Ata P., Kırkgöz T., Abali Z. Y. , Eltan M., Tosun B. G. , Menevse T. S. , Helvacioglu D., Güran T., Arman A., et al.

HORMONE RESEARCH IN PAEDIATRICS, cilt.91, ss.215, 2019 (SCI İndekslerine Giren Dergi) LVIII. A Case Of Syndro mic Hypo pituitarismA Case Of Syndro mic Hypo pituitarism

Kaygusuz S. B. , Ates E. A. , Kırkgöz T., Eltan M., Abali Z. Y. , Helvacioglu D., Menevse T. S. , Tosun B. G. , Tutar E., Volkan B., et al.

LIX. Ho w to Appro ach Systemic Hypersensitivity reactio ns to Go nado tro pin Releasing Ho rmo neHo w to Appro ach Systemic Hypersensitivity reactio ns to Go nado tro pin Releasing Ho rmo ne Analo gues during treatment o f Central Preco cio us Puberty

Analo gues during treatment o f Central Preco cio us Puberty

KIRKGÖZ T., Karakoc E. A. , Kiykim A., Bugrul F., Helvacioglu D., Eltan S. B. , Kasap N., Ozen A. O. , BARIŞ S., GÜRAN T., et al.

LX. Age o f o besity o nset co uld be the first indicato r o f future metabo lic co mplicatio ns - preliminary dataAge o f o besity o nset co uld be the first indicato r o f future metabo lic co mplicatio ns - preliminary data o f pro spective multicenter study

o f pro spective multicenter study

Gawlik A., Wasniewska M., BEREKET A., Antosz A., Aversa T., Corica D., KIRKGÖZ T., Turan S., GÜRAN T., Shmoish M., et al.

HORMONE RESEARCH IN PAEDIATRICS, cilt.91, ss.153-154, 2019 (SCI İndekslerine Giren Dergi)

LXI. Evaluatio n o f mo lecular characteristics and stero id metabo lo mics in a large co ho rt o f children withEvaluatio n o f mo lecular characteristics and stero id metabo lo mics in a large co ho rt o f children with 3 beta-hydro xystero id dehydro genase 2 deficiency

3 beta-hydro xystero id dehydro genase 2 deficiency

Güran T., Kara C., Yildiz M., Bitkin E. C. , Haklar G., Lin J., Gilligan L. C. , Barnard L., Keskin M., Anik A., et al.

HORMONE RESEARCH IN PAEDIATRICS, cilt.91, ss.207, 2019 (SCI İndekslerine Giren Dergi) LXII. Evaluatio n o f brain MRI lesio ns in 381 girls with central preco cio us pubertyEvaluatio n o f brain MRI lesio ns in 381 girls with central preco cio us puberty

Helvacioglu D., GÜRAN T., KIRKGÖZ T., Atay Z., Abali Z. Y. , ELTAN M., KAYGUSUZ S. B. , Seven T., Gurpinar B., Turan S., et al.

HORMONE RESEARCH IN PAEDIATRICS, cilt.91, ss.329-330, 2019 (SCI İndekslerine Giren Dergi) LXIII. Simplifying the interpretatio n o f stero id metabo lo me data by a machine-learning appro achSimplifying the interpretatio n o f stero id metabo lo me data by a machine-learning appro ach

Kırkgöz T., Kilic S., Abali Z. Y. , Yaman A., Kaygusuz S. B. , Eltan M., Turan S., Haklar G., Sagiroglu M. S. , Bereket A., et al.

LXIV. Cushing Syndro me due to an adrenaco rtical carcino ma in a baby with atypical Beckwith-W iedemannCushing Syndro me due to an adrenaco rtical carcino ma in a baby with atypical Beckwith-W iedemann Syndro me

Syndro me

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Eltan M., Cerit K., Kaygusuz S. B. , Ates E., Eker N., Bagci P., Ergelen R., Turan S., Bereket A., Güran T.

HORMONE RESEARCH IN PAEDIATRICS, cilt.91, ss.371, 2019 (SCI İndekslerine Giren Dergi) LXV. A rare cause o f hypo pho sphatemia: Raine Syndro meA rare cause o f hypo pho sphatemia: Raine Syndro me

Eltan M., Ata P., Kırkgöz T., Alavanda C., Kaygusuz S. B. , Menevse T. S. , Tosun B. G. , Abali Z. Y. , Helvacioglu D., Güran T., et al.

LXVI. A Real-L ife Experience with A New Insulin Co -F o rmulatio n D egludec/Aspart F o r One Year In Po o rlyA Real-L ife Experience with A New Insulin Co -F o rmulatio n D egludec/Aspart F o r One Year In Po o rly Co ntro lled Children And Ado lescents W ith Type 1 D iabetes

Co ntro lled Children And Ado lescents W ith Type 1 D iabetes

Kırkgöz T., Eltan M., Kaygusuz S. B. , Abali Z. Y. , Güran T., Bereket A., Turan S.

LXVII. Characteristics o f puberty, pubertal height gain and final height in children with classical 21Characteristics o f puberty, pubertal height gain and final height in children with classical 21 hydro xylase deficiency

hydro xylase deficiency

Abali Z. Y. , Yildiz M., Bas F., Onal H., Abalı S., Cilsaat G., Uyguner Z. O. , Turan S., Darendeliler F., Bereket A., et al.

HORMONE RESEARCH IN PAEDIATRICS, cilt.91, ss.205-206, 2019 (SCI İndekslerine Giren Dergi) LXVIII. L iraglutide in children and ado lescents with type 2 diabetesL iraglutide in children and ado lescents with type 2 diabetes

Tamborlane W. V. , Barrientos-Pérez M., Fainberg U., Frimer-Larsen H., Hafez M., Hale P. M. , Jalaludin M. Y. , Kovarenko M., Libman I., Lynch J. L. , et al.

New England Journal of Medicine, cilt.381, sa.7, ss.637-646, 2019 (SCI İndekslerine Giren Dergi)

LXIX. Exo me Sequencing o f a Primary Ovarian Insufficiency Co ho rt Reveals Co mmo n Mo lecular Etio lo giesExo me Sequencing o f a Primary Ovarian Insufficiency Co ho rt Reveals Co mmo n Mo lecular Etio lo gies fo r a Spectrum o f D isease

fo r a Spectrum o f D isease

Jolly A., Bayram Y., Turan S., Aycan Z., Tos T., Abali Z. Y. , Hacihamdioglu B., Akdemir Z. H. C. , Hijazi H., Bas S., et al.

Journal of Clinical Endocrinology and Metabolism, cilt.104, sa.8, ss.3049-3067, 2019 (SCI İndekslerine Giren Dergi) LXX. Evaluatio n o f gro wth and puberty in a child with a no vel TBX19 gene mutatio n and review o f theEvaluatio n o f gro wth and puberty in a child with a no vel TBX19 gene mutatio n and review o f the

literature literature

Abali Z. Y. , Yeşil G., Kırkgöz T., Kaygusuz S. B. , Eltan M., Turan S., Bereket A., Güran T.

HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM, cilt.18, sa.2, ss.229-236, 2019 (SCI İndekslerine Giren Dergi)

LXXI. Pto sis as a unique hallmark fo r auto so mal recessive W NT1-asso ciated o steo genesis imperfectaPto sis as a unique hallmark fo r auto so mal recessive W NT1-asso ciated o steo genesis imperfecta Nampoothiri S., Guillemyn B., Elcioglu N., Jagadeesh S., Yesodharan D., Suresh B., Turan S., Symoens S., Malfait F.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, cilt.179, sa.6, ss.908-914, 2019 (SCI İndekslerine Giren Dergi)

LXXII. Clinical and L abo rato ry Characteristics o f Hyperpro lactinemia in Children and Ado lescents: Natio nalClinical and L abo rato ry Characteristics o f Hyperpro lactinemia in Children and Ado lescents: Natio nal Survey

Survey

Eren E., Törel Ergür A., Pınar İşgüven Ş., Çelebi Bitkin E., Berberoğlu M., Şiklar Z., Baş F., Yel S., Baş S., Söbü E., et al.

Journal of clinical research in pediatric endocrinology, cilt.11, sa.2, ss.149-156, 2019 (SCI Expanded İndekslerine Giren Dergi)

LXXIII. PPP2R3C gene variants cause syndro mic 46,XY go nadal dysgenesis and impaired spermato genesis inPPP2R3C gene variants cause syndro mic 46,XY go nadal dysgenesis and impaired spermato genesis in humans

humans

Güran T., Yesil G., Turan S., Atay Z., Bozkurtlar E., Aghayev A., Gul S., Tinay İ., Aru B., Arslan S., et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY, cilt.180, sa.5, ss.291-309, 2019 (SCI İndekslerine Giren Dergi) LXXIV. Incidence o f Type 1 D iabetes in Children Aged Belo w 18 Years during 2013-2015 in No rthwestIncidence o f Type 1 D iabetes in Children Aged Belo w 18 Years during 2013-2015 in No rthwest

Turkey Turkey

Poyrazoglu S., Bundak R., Abali Z. Y. , Onal H., Sarikaya S., Akgun A., Bas S., Abali S., BEREKET A., EREN E., et al.

LXXV. THE CO-EXISTENCE OF TW O RARE D ISEASES: A CASE REPORTTHE CO-EXISTENCE OF TW O RARE D ISEASES: A CASE REPORT Saki M., KIRKGÖZ T., GÖKCE İ., Cicek N., ATA P., Turan S., YILDIZ N., ALPAY H.

PEDIATRIC NEPHROLOGY, cilt.33, sa.10, ss.1881, 2018 (SCI İndekslerine Giren Dergi)

LXXVI. D iagno sis and management o f pseudo hypo parathyro idism and related diso rders: F irst internatio nalD iagno sis and management o f pseudo hypo parathyro idism and related diso rders: F irst internatio nal Co nsensus Statement

Co nsensus Statement

Mantovani G., Bastepe M., Monk D., De Sanctis L., Thiele S., Usardi A., Ahmed S. F. , Bufo R., Choplin T., De Filippo G.,

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et al.

Nature Reviews Endocrinology, cilt.14, sa.8, ss.476-500, 2018 (SCI İndekslerine Giren Dergi)

LXXVII. Biallelic and mo no allelic ESR2 variants asso ciated with 46,XY diso rders o f sex develo pmentBiallelic and mo no allelic ESR2 variants asso ciated with 46,XY diso rders o f sex develo pment Baetens D., Güran T., Mendonca B. B. , Gomes N. L. , De Cauwer L., Peelman F., Verdin H., Vuylsteke M., Van Der Linden M., Atay Z., et al.

GENETICS IN MEDICINE, cilt.20, sa.7, ss.717-727, 2018 (SCI İndekslerine Giren Dergi)

LXXVIII. Mutatio ns in the mito cho ndrial ribo so mal pro tein MRPS22 lead to primary o varian insufficiencyMutatio ns in the mito cho ndrial ribo so mal pro tein MRPS22 lead to primary o varian insufficiency Chen A., Tiosano D., Guran T., Baris H. N. , Bayram Y., Mory A., Shapiro-Kulnane L., Hodges C. A. , Akdemir Z. C. , Turan S., et al.

Human Molecular Genetics, cilt.27, sa.11, ss.1913-1926, 2018 (SCI İndekslerine Giren Dergi)

LXXIX. The D istributio n o f D ifferent Types o f D iabetes in Childho o d: A Single Center ExperienceThe D istributio n o f D ifferent Types o f D iabetes in Childho o d: A Single Center Experience Haliloğlu B., ABALI S., Buğrul F., Çelik E., Baş S., Atay Z., GÜRAN T., Turan S., BEREKET A.

Journal of clinical research in pediatric endocrinology, cilt.10, sa.2, ss.125-130, 2018 (SCI Expanded İndekslerine Giren Dergi)

LXXX. Acquired mo dificatio n o f sphingo sine-1-pho sphate lyase activity is no t related to adrenalAcquired mo dificatio n o f sphingo sine-1-pho sphate lyase activity is no t related to adrenal insufficiency

insufficiency

Sünter G., Enver E. O. , Akbarzade A., Turan S., Vatansever P., Günal D., Haklar G., Bereket A., Ağan Yıldırım K., Güran T.

BMC NEUROLOGY, cilt.18, 2018 (SCI İndekslerine Giren Dergi) LXXXI. An Unusual Cause o f Sho rt StatureAn Unusual Cause o f Sho rt Stature

Kaygusuz S. B. , Atay Z., Kırkgöz T., Güran T., Bereket A., Turan S.

HORMONE RESEARCH IN PAEDIATRICS, cilt.90, ss.184-185, 2018 (SCI İndekslerine Giren Dergi) LXXXII. An 18 Mo nth Old Bo y with Hypo glycemic Co nvulsio n and Obesity D ue to POMC D eficiencyAn 18 Mo nth Old Bo y with Hypo glycemic Co nvulsio n and Obesity D ue to POMC D eficiency

Kaygusuz S. B. , Yesil G., Kırkgöz T., Turan S., Bereket A., Güran T.

HORMONE RESEARCH IN PAEDIATRICS, cilt.90, ss.514, 2018 (SCI İndekslerine Giren Dergi) LXXXIII. D elayed D iagno sis o f a Patient with Antley-Bixler Syndro meD elayed D iagno sis o f a Patient with Antley-Bixler Syndro me

Kırkgöz T., Bas S., Abali Z. Y. , Turan S., Bereket A., Güran T.

LXXXIV. Iso lated Co ngenital Central Hypo thyro idism due to a No vel Mutatio n in TSH Beta Subunit GeneIso lated Co ngenital Central Hypo thyro idism due to a No vel Mutatio n in TSH Beta Subunit Gene Kırkgöz T., Özhan B., Cetin O., Kaygusuz S. B. , Turan S., Bereket A., Güran T.

LXXXV. D iagno sis and Management o f Pseudo hypo parathyro idism and Related D iso rders: F irst Internatio nalD iagno sis and Management o f Pseudo hypo parathyro idism and Related D iso rders: F irst Internatio nal Co nsensus Statement

Co nsensus Statement

Mantovani G., Bastepe M., Monk D., de Sanctis L., Thiele S., Usardi A., Ahmed F., Bufo R., Choplin T., DeFillipo G., et al.

HORMONE RESEARCH IN PAEDIATRICS, cilt.90, ss.108-109, 2018 (SCI İndekslerine Giren Dergi) LXXXVI. Natio nwide Hypo pho sphatemic Rickets StudyNatio nwide Hypo pho sphatemic Rickets Study

ŞIKLAR Z., Turan S., BEREKET A., ABACI A., Bas F., DEMİR K., GÜRAN T., Akberzade A., BÖBER E., Ozbek M. N. , et al.

LXXXVII. Recurrent Hypo glycemia in a Prescho o ler Girl with Overgro wth: Iso lated ACTH-D eficiency with aRecurrent Hypo glycemia in a Prescho o ler Girl with Overgro wth: Iso lated ACTH-D eficiency with a No vel TPIT Mutatio n

No vel TPIT Mutatio n

Abali Z. Y. , Yesil G., Kırkgöz T., Kaygusuz S. B. , Turan S., Bereket A., Güran T.

LXXXVIII. Persistent Mullerian duct syndro me: Rare But Impo rtant Aetio lo gy o f an Inguinal Hernia andPersistent Mullerian duct syndro me: Rare But Impo rtant Aetio lo gy o f an Inguinal Hernia and Crypto rchidism in Bo ys

Crypto rchidism in Bo ys

Bereket A., Bugrul F., Kırkgöz T., Karadeniz Cerit K., Canmemiş A., Turan S., Picard J., Tugtepe H., Güran T.

HORMONE RESEARCH IN PAEDIATRICS, cilt.90, ss.568, 2018 (SCI İndekslerine Giren Dergi) LXXXIX. Current No menclature o f Pseudo hypo parathyro idism: Inactivating Parathyro idCurrent No menclature o f Pseudo hypo parathyro idism: Inactivating Parathyro id

Ho rmo ne/Parathyro id Ho rmo ne-Related Pro tein Signaling D iso rder Ho rmo ne/Parathyro id Ho rmo ne-Related Pro tein Signaling D iso rder Turan S.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, cilt.9, ss.58-68, 2017 (SCI İndekslerine Giren Dergi)

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XC. Hypo glycemia is co mmo n in children with cystic fibro sis and seen predo minantly in females.Hypo glycemia is co mmo n in children with cystic fibro sis and seen predo minantly in females.

Haliloglu B., Gökdemir Y., Atay Z., Abali S., Güran T., Karakoc F., Ersu R., Karadag B., Turan S., Bereket A.

Pediatric diabetes, cilt.18, sa.7, ss.607-613, 2017 (SCI Expanded İndekslerine Giren Dergi)

XCI. Evaluatio n and Treatment Results o f Ovarian Cysts in Childho o d and Ado lescence: A Multicenter,Evaluatio n and Treatment Results o f Ovarian Cysts in Childho o d and Ado lescence: A Multicenter, Retro spective Study o f 100 Patients.

Retro spective Study o f 100 Patients.

Aydin B. K. , Saka N., Bas F., Yilmaz Y., Haliloglu B., GÜRAN T., Turan S., BEREKET A., Mutlu G. Y. , Cizmecioglu F., et al.

Journal of pediatric and adolescent gynecology, cilt.30, sa.4, ss.449-455, 2017 (SCI Expanded İndekslerine Giren Dergi)

XCII. Hetero trimeric G pro teins in the co ntro l o f parathyro id ho rmo ne actio nsHetero trimeric G pro teins in the co ntro l o f parathyro id ho rmo ne actio ns Bastepe M., Turan S., He Q.

JOURNAL OF MOLECULAR ENDOCRINOLOGY, cilt.58, sa.4, 2017 (SCI İndekslerine Giren Dergi) XCIII. Pycno dyso sto sis at o to rhino laryngo lo gyPycno dyso sto sis at o to rhino laryngo lo gy

Baglam T., BİNNETOĞLU A., Topuz M. F. , Ikizoglu N. B. , Ersu R., Turan S., Sari M.

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, cilt.95, ss.91-96, 2017 (SCI İndekslerine Giren Dergi)

XCIV. Persistent hyperglycemia in a neo nate: Is it a co mplicatio n o f therapeutic hypo thermia?Persistent hyperglycemia in a neo nate: Is it a co mplicatio n o f therapeutic hypo thermia?

Ozdemir H., MEMİŞOĞLU A., Alp-Unkar Z., Arcagok B., Bilgen H. S. , Turan S., ÖZEK E.

TURKISH JOURNAL OF PEDIATRICS, cilt.59, sa.2, ss.193-196, 2017 (SCI İndekslerine Giren Dergi) XCV. CL INICAL AND L ABORATORY CHARACTERISTICS OF HYPERPROL ACTINEMIC CHIL D REN ANDCL INICAL AND L ABORATORY CHARACTERISTICS OF HYPERPROL ACTINEMIC CHIL D REN AND

AD OL ESCENTS: NATIONAL SURVEY AD OL ESCENTS: NATIONAL SURVEY

EREN E., Ergur A. T. , İŞGÜVEN Ş. P. , Bitkin E. C. , BERBEROĞLU M., ŞIKLAR Z., Genens M., Dogan M., Yel S., Bas S., et al.

XCVI. CL INICAL CHARACTERISTICS OF TURKISH CHIL D REN AND AD OL ESCENTS W ITH TYPE 2 D IABETESCL INICAL CHARACTERISTICS OF TURKISH CHIL D REN AND AD OL ESCENTS W ITH TYPE 2 D IABETES Hatun S., Mutlu G. Y. , CİNAZ P., Erbas M. Y. , Akcay T., Onal H., Turan S., Ekberzade A., BEREKET A., Bolu S., et al.

XCVII. SIMUL TANEOUS PROF IL ING OF 17 STEROID HORMONES USING L IQUID CHROMATOGRAPHY TAND EMSIMUL TANEOUS PROF IL ING OF 17 STEROID HORMONES USING L IQUID CHROMATOGRAPHY TAND EM MASS SPECTROMETRY IN NEW BORN AND EARL Y INF ANCY

MASS SPECTROMETRY IN NEW BORN AND EARL Y INF ANCY

Enver E. O. , Vatansever P., Guran O., Bilgin L., Boran P., Turan S., Haklar G., Bereket A., Güran T.

XCVIII. The diagno stic value o f so luble uro kinase plasmino gen activato r recepto r (suPAR) co mpared to C-The diagno stic value o f so luble uro kinase plasmino gen activato r recepto r (suPAR) co mpared to C- reactive pro tein (CRP) and pro calcito nin (PCT) in children with systemic inflammato ry respo nse reactive pro tein (CRP) and pro calcito nin (PCT) in children with systemic inflammato ry respo nse syndro me (SIRS)

syndro me (SIRS)

Sirinoglu M., Soysal A., Karaaslan A., KEPENEKLİ KADAYİFCİ E., Yalindag-Ozturk N., Cinel I., Yaman A., HAKLAR G., ŞİRİKÇİ Ö., Turan S., et al.

JOURNAL OF INFECTION AND CHEMOTHERAPY, cilt.23, sa.1, ss.17-22, 2017 (SCI İndekslerine Giren Dergi) XCIX. 17OH-PREGNENOL ONE SEEMS A MAJOR D RIVE OF AND ROGEN EXCESS IN PATIENTS W ITH 11 beta-17OH-PREGNENOL ONE SEEMS A MAJOR D RIVE OF AND ROGEN EXCESS IN PATIENTS W ITH 11 beta-

HYD ROXYL ASE D EF ICIENCY HYD ROXYL ASE D EF ICIENCY

Yildiz M., Turan S., Akcay T., Atay Z., Onal H., Baris T., Haklar G., Bereket A., Güran T.

C. F ro m pseudo hypo parathyro idism to inactivating PTH/PTHrP signalling diso rder (iPPSD ), a no velF ro m pseudo hypo parathyro idism to inactivating PTH/PTHrP signalling diso rder (iPPSD ), a no vel classificatio n pro po sed by the Euro PHP netwo rk

classificatio n pro po sed by the Euro PHP netwo rk

Thiele S., Mantovani G., Barlier A., Boldrin V., Bordogna P., De Sanctis L., Elli F. M. , Freson K., Garin I., Grybek V., et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY, cilt.175, sa.6, 2016 (SCI İndekslerine Giren Dergi)

CI. The Gro wth Characteristics o f Patients with No o nan Syndro me: Results o f Three Years o f Gro wthThe Gro wth Characteristics o f Patients with No o nan Syndro me: Results o f Three Years o f Gro wth Ho rmo ne Treatment: A Natio nwide Multicenter Study

Ho rmo ne Treatment: A Natio nwide Multicenter Study

ŞIKLAR Z., Genens M., Poyrazoglu S., Bas F., Darendeliler F., Bundak R., Aycan Z., Erdeve S. S. , Cetinkaya S., Guven A., et al.

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CII. GCK gene mutatio ns are a co mmo n cause o f childho o d-o nset MOD Y (maturity-o nset diabetes o f theGCK gene mutatio ns are a co mmo n cause o f childho o d-o nset MOD Y (maturity-o nset diabetes o f the yo ung) in Turkey.

yo ung) in Turkey.

Haliloglu B., Hysenaj G., Atay Z., GÜRAN T., Abali S., Turan S., BEREKET A., Ellard S.

Clinical endocrinology, cilt.85, sa.3, ss.393-9, 2016 (SCI Expanded İndekslerine Giren Dergi)

CIII. Premature pubarche, hyperinsulinemia, hypo thyro xinemia and hyperintensities in basal ganglia: AllPremature pubarche, hyperinsulinemia, hypo thyro xinemia and hyperintensities in basal ganglia: All caused by a single co ngenital defect

caused by a single co ngenital defect

Baş S., GÜRAN T., Atay Z., Haliloğlu B., Abalı S., Turan S., BEREKET A.

JCRPE Journal of Clinical Research in Pediatric Endocrinology, cilt.8, ss.14, 2016 (SCI Expanded İndekslerine Giren Dergi)

CIV. Cathepsin K o steo po ro sis trials, pycno dyso sto sis and mo use deficiency mo dels: Co mmo nalities andCathepsin K o steo po ro sis trials, pycno dyso sto sis and mo use deficiency mo dels: Co mmo nalities and differences

differences

Broemme D., Panwar P., Turan S.

EXPERT OPINION ON DRUG DISCOVERY, cilt.11, sa.5, ss.457-472, 2016 (SCI İndekslerine Giren Dergi)

CV. The Etio lo gy and Clinical F eatures o f No n-CAH Go nado tro pin-Independent Preco cio us Puberty: AThe Etio lo gy and Clinical F eatures o f No n-CAH Go nado tro pin-Independent Preco cio us Puberty: A Multicenter Study

Multicenter Study

Atay Z., Yesilkaya E., Erdeve S. S. , Turan S., AKIN L., EREN E., DÖĞER E., Aycan Z., Abali Z. Y. , AKINCI A., et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, cilt.101, sa.5, ss.1980-1988, 2016 (SCI İndekslerine Giren Dergi)

CVI. The diagno stic value o f so luble uro kinase plasmino gen activato r recepto r co mpared with C-reactiveThe diagno stic value o f so luble uro kinase plasmino gen activato r recepto r co mpared with C-reactive pro tein and pro calcito nin in children with febrile neutro penia

pro tein and pro calcito nin in children with febrile neutro penia

Sirinoglu M., Soysal A., Karaaslan A., KEPENEKLİ KADAYİFCİ E., Cinel I., KOÇ A., Tokuc G., Yaman A., HAKLAR G., ŞİRİKÇİ Ö., et al.

Pediatric Hematology and Oncology, cilt.33, sa.3, ss.200-208, 2016 (SCI Expanded İndekslerine Giren Dergi) CVII. Anthro po metric findings fro m birth to adultho o d and their relatio n with karyo tpye distributio n inAnthro po metric findings fro m birth to adultho o d and their relatio n with karyo tpye distributio n in

Turkish girls with Turner syndro me Turkish girls with Turner syndro me

Sari E., BEREKET A., Yesilkaya E., Bas F., Bundak R., Aydin B. K. , DARCAN Ş., Dundar B., Buyukinan M., Kara C., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, cilt.170, sa.4, ss.942-948, 2016 (SCI İndekslerine Giren Dergi)

CVIII. Thiamine Respo nsive Megalo blastic Anemia D ue to SL CA19A2 Gene Mutatio n: Ano ther Cause o fThiamine Respo nsive Megalo blastic Anemia D ue to SL CA19A2 Gene Mutatio n: Ano ther Cause o f Neo natal D iabetes with Succcesfull Switch fro m Insulin to Thiamine

Neo natal D iabetes with Succcesfull Switch fro m Insulin to Thiamine

Bas S., Akbarzade A., Atay Z., Gurbanov Z., GÜRAN T., Turan S., De Franco E., Ellard S., BEREKET A.

CIX. Etio lo gic D istributio n and Characteristics o f Patients with Sho rt Stature in a Pediatric Endo crino lo gyEtio lo gic D istributio n and Characteristics o f Patients with Sho rt Stature in a Pediatric Endo crino lo gy Clinic

Clinic

Ozcan S., Abali S., Atay Z., Haliloglu B., Bas S., Ozturk G., Cam S., Akcay T., Güran T., Bereket A., et al.

CX. F ro m Pseudo hypo parathyro idism to Inactivating PTH/PTHrP Signaling D iso rder (iPPSD ), a No velF ro m Pseudo hypo parathyro idism to Inactivating PTH/PTHrP Signaling D iso rder (iPPSD ), a No vel Classificatio n Pro po sed by the Euro pean Euro PHP-Netwo rk

Classificatio n Pro po sed by the Euro pean Euro PHP-Netwo rk

Thiele S., Mantovani G., Barlier A., Bordogna P., Elli F. M. , Freson K., Garin I., Grybek V., Hanna P., Izzi B., et al.

CXI. The Effect o f Subclinical Hypo thyro idism (SH) and Treatment o f SH with L -T4 o n Basal Metabo licThe Effect o f Subclinical Hypo thyro idism (SH) and Treatment o f SH with L -T4 o n Basal Metabo lic Rate in Obese Children: A Pro spective Study

Rate in Obese Children: A Pro spective Study Muzafferova N., Bas S., Atay Z., Bereket A., Turan S.

HORMONE RESEARCH IN PAEDIATRICS, cilt.86, ss.303, 2016 (SCI İndekslerine Giren Dergi) CXII. Reco nsideratio n o f Mid-Parental Height Calculatio nReco nsideratio n o f Mid-Parental Height Calculatio n

BEREKET A., Bugur I. S. , GÜRAN T., Atay Z., Ekberzade A., Gurbanov Z., Oge E., Tas C. S. R. , Turan S., FURMAN A.

CXIII. beta-hCG fro m an Occult So urce Causing Peripheral Preco cio us Puberty: Identificatio n o f thebeta-hCG fro m an Occult So urce Causing Peripheral Preco cio us Puberty: Identificatio n o f the Tumo ur 6 Years After Presentatio n

Tumo ur 6 Years After Presentatio n

Ekberzade A., Abali S., Atay Z., Bas S., Gurbanov Z., Turan S., GÜRAN T., BEREKET A.

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CXIV. F requency o f Recessive Osteo genesis Imperfecta in a Turkish Co ho rt and Genetic CausesF requency o f Recessive Osteo genesis Imperfecta in a Turkish Co ho rt and Genetic Causes Abali S., Arman A., Atay Z., Bereket A., Bas S., Haliloglu B., Güran T., Gormez Z., Demirci H., Akarsu N., et al.

CXV. Rare Causes o f Primary Adrenal Insufficiency: Genetic and Clinical Characterizatio n o f a L argeRare Causes o f Primary Adrenal Insufficiency: Genetic and Clinical Characterizatio n o f a L arge Natio nwide Co ho rt

Natio nwide Co ho rt

Guran T., Buonocore F., Saka N., Ozbek M. N. , Aycan Z., Bereket A., Bas F., Darcan S., Bideci A., Guven A., et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, cilt.101, sa.1, ss.283-291, 2016 (SCI İndekslerine Giren Dergi)

CXVI. No nsense Mutatio n in SPARC Gene Causing Auto so mal Recessive Ostegenesis ImperfectaNo nsense Mutatio n in SPARC Gene Causing Auto so mal Recessive Ostegenesis Imperfecta Abali S., Arman A., Atay Z., Bas S., Cam S., Gormez Z., Demirci H., Alanay Y., Akarsu N., Bereket A., et al.

CXVII. H syndro me: a multifaceted histio cytic diso rder with hyperpigmentatio n and hypertricho sis.H syndro me: a multifaceted histio cytic diso rder with hyperpigmentatio n and hypertricho sis.

Tekin B., Atay Z., Ergun T., Can M., TÜNEY D., Babay S., Turan S., BEREKET A., Zlotogorski A., Molho-Pessach V.

Acta dermato-venereologica, cilt.95, sa.8, ss.1021-3, 2015 (SCI Expanded İndekslerine Giren Dergi)

CXVIII. Gro wth curves fo r Turkish Girls with Turner Syndro me: Results o f the Turkish Turner Syndro meGro wth curves fo r Turkish Girls with Turner Syndro me: Results o f the Turkish Turner Syndro me Study Gro up

Study Gro up

Darendeliler F., Yesilkaya E., BEREKET A., Bas F., Bundak R., Sari E., Aydin B. K. , DARCAN Ş., Dundar B., Buyukinan M., et al.

CXIX. Effects o f leukemia inhibito ry recepto r gene mutatio ns o n human hypo thalamo -pituitary-adrenalEffects o f leukemia inhibito ry recepto r gene mutatio ns o n human hypo thalamo -pituitary-adrenal functio n.

functio n.

Guran T., Guran O., Paketci C., Kipoglu O., Firat I., Turan S., Atay Z., Haliloglu B., Bereket A.

Pituitary, cilt.18, sa.4, ss.456-60, 2015 (SCI Expanded İndekslerine Giren Dergi)

CXX. Higher insulin detemir do ses are required fo r the similar glycemic co ntro l: co mpariso n o f insulinHigher insulin detemir do ses are required fo r the similar glycemic co ntro l: co mpariso n o f insulin detemir and glargine in children with type 1 diabetes mellitus.

detemir and glargine in children with type 1 diabetes mellitus.

Abali S., Turan S., Atay Z., GÜRAN T., Haliloglu B., BEREKET A.

Pediatric diabetes, cilt.16, sa.5, ss.361-6, 2015 (SCI Expanded İndekslerine Giren Dergi)

CXXI. No rmative D ata o f Thyro id Vo lume-Ultraso no graphic Evaluatio n o f 422 Subjects Aged 0-55 YearsNo rmative D ata o f Thyro id Vo lume-Ultraso no graphic Evaluatio n o f 422 Subjects Aged 0-55 Years Aydiner O., AYDINER E., Akpinar I., Turan S., BEREKET A.

CXXII. GNAS Spectrum o f D iso rdersGNAS Spectrum o f D iso rders Turan S., Bastepe M.

CURRENT OSTEOPOROSIS REPORTS, cilt.13, sa.3, ss.146-158, 2015 (SCI İndekslerine Giren Dergi) CXXIII. Ho mo zygo us L o ss-o f-functio n Mutatio ns in SOHL H1 in Patients W ith No nsyndro micHo mo zygo us L o ss-o f-functio n Mutatio ns in SOHL H1 in Patients W ith No nsyndro mic

Hypergo nado tro pic Hypo go nadism Hypergo nado tro pic Hypo go nadism

Bayram Y., Gulsuner S., GÜRAN T., ABACI A., Yesil G., Gulsuner H. U. , Atay Z., Pierce S. B. , Gambin T., Lee M., et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, cilt.100, sa.5, 2015 (SCI İndekslerine Giren Dergi) CXXIV. Euro pean guidance fo r the mo lecular diagno sis o f pseudo hypo parathyro idism no t caused by po intEuro pean guidance fo r the mo lecular diagno sis o f pseudo hypo parathyro idism no t caused by po int

genetic variants at GNAS: An EQA study genetic variants at GNAS: An EQA study

Garin I., Mantovani G., Aguirre U., Barlier A., Brix B., Elli F. M. , Freson K., Grybek V., Izzi B., Linglart A., et al.

European Journal of Human Genetics, cilt.23, sa.4, ss.438-444, 2015 (SCI İndekslerine Giren Dergi)

CXXV. Current Practice in D iagno sis and Treatment o f Gro wth Ho rmo ne D eficiency in Childho o d: A SurveyCurrent Practice in D iagno sis and Treatment o f Gro wth Ho rmo ne D eficiency in Childho o d: A Survey fro m Turkey

fro m Turkey

Poyrazoglu S., Akcay T., ARSLANOĞLU İ., ATABEK M. E. , Atay Z., BERBEROĞLU M., BEREKET A., BİDECİ A., Bircan I., BÖBER E., et al.

CXXVI. Turner Syndro me and Asso ciated Pro blems in Turkish Children: A Multicenter StudyTurner Syndro me and Asso ciated Pro blems in Turkish Children: A Multicenter Study

Yesilkaya E., BEREKET A., Darendeliler F., Bas F., Poyrazoglu S., Aydin B. K. , DARCAN Ş., Dundar B., Buyukinan M.,

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Kara C., et al.

CXXVII. Evidence o f ho rmo ne resistance in a pseudo -pseudo hypo parathyro idism patient with a no velEvidence o f ho rmo ne resistance in a pseudo -pseudo hypo parathyro idism patient with a no vel paternal mutatio n in GNAS.

paternal mutatio n in GNAS.

Turan S., Thiele S., Tafaj O., Brix B., Atay Z., Abali S., Haliloglu B., Bereket A., Bastepe M.

Bone, cilt.71, ss.53-7, 2015 (SCI Expanded İndekslerine Giren Dergi)

CXXVIII. Premature pubarche, hyperinsulinemia and hypo thyro xinemia: no vel manifestatio ns o f co ngenitalPremature pubarche, hyperinsulinemia and hypo thyro xinemia: no vel manifestatio ns o f co ngenital po rto systemic shunts (Abernethy malfo rmatio n) in children.

po rto systemic shunts (Abernethy malfo rmatio n) in children.

Bas S., GÜRAN T., Atay Z., Haliloglu B., Abali S., Turan S., BEREKET A.

Hormone research in paediatrics, cilt.83, sa.4, ss.282-7, 2015 (SCI Expanded İndekslerine Giren Dergi)

CXXIX. Prevalence o f acne in primary scho o l children and the relatio nship o f acne with pubertal maturatio nPrevalence o f acne in primary scho o l children and the relatio nship o f acne with pubertal maturatio n Erdogan H. K. , Altunay I. K. , Turan S.

TURKDERM-ARCHIVES OF THE TURKISH DERMATOLOGY AND VENEROLOGY, cilt.48, sa.4, ss.182-186, 2014 (SCI İndekslerine Giren Dergi)

CXXX. The F requency and the Effects o f 21-Hydro xylase Gene D efects in Co ngenital Adrenal HyperplasiaThe F requency and the Effects o f 21-Hydro xylase Gene D efects in Co ngenital Adrenal Hyperplasia Patients

Patients

Kirac D., GÜNEY A. İ. , Akcay T., GÜRAN T., ULUCAN K., Turan S., Ergec D., Koc G., EREN F., KASPAR E. Ç. , et al.

ANNALS OF HUMAN GENETICS, cilt.78, sa.6, ss.399-409, 2014 (SCI İndekslerine Giren Dergi)

CXXXI. D o es co mmo n channel length affect surgical cho ice in female co ngenital adrenal hyperplasiaD o es co mmo n channel length affect surgical cho ice in female co ngenital adrenal hyperplasia patients?

patients?

Tugtepe H., Thomas D. T. , Turan S., Cizmecioglu F., Hatun S., BEREKET A., Dagli E. T.

JOURNAL OF PEDIATRIC UROLOGY, cilt.10, sa.5, ss.948-954, 2014 (SCI İndekslerine Giren Dergi) CXXXII. Sleep diso rdered breathing in children with endo crino lo gical pro blemsSleep diso rdered breathing in children with endo crino lo gical pro blems

Gokdemir Y., Aksu H. E. , Erdem E., Lkizoglu N. B. , Karakoc F., Karadag B. T. , Turan S., Ersu R.

EUROPEAN RESPIRATORY JOURNAL, cilt.44, 2014 (SCI İndekslerine Giren Dergi) CXXXIII. Sleep diso rdered breathing in pycno dyso sto sis patientsSleep diso rdered breathing in pycno dyso sto sis patients

Lkizoglu N. B. , Gokdemir Y., Turan S., Atay Z., Haliloglu B., Karakoc F., Karadag B. T. , Ersu R.

EUROPEAN RESPIRATORY JOURNAL, cilt.44, 2014 (SCI İndekslerine Giren Dergi)

CXXXIV. Hypo glycemia: An unreco gnized pro blem m cystic fibro sis (CF ) patients unmasked by co ntinuesHypo glycemia: An unreco gnized pro blem m cystic fibro sis (CF ) patients unmasked by co ntinues gluco se mo nito risatio n (CGM)

gluco se mo nito risatio n (CGM)

Haliloglu B., Gokdemir Y., Atay Z., Abali S., Guran T., Karakoc F., Ersu R., Karadag B. T. , Turan S., Bereket A.

EUROPEAN RESPIRATORY JOURNAL, cilt.44, 2014 (SCI İndekslerine Giren Dergi) CXXXV. Current research o n pycno dyso sto sis.Current research o n pycno dyso sto sis.

Turan S.

Intractable & rare diseases research, cilt.3, sa.3, ss.91-3, 2014 (SCI Expanded İndekslerine Giren Dergi) CXXXVI. AR and SRD 5A2 gene mutatio ns in a series o f 51 Turkish 46,XY D SD children with a clinicalAR and SRD 5A2 gene mutatio ns in a series o f 51 Turkish 46,XY D SD children with a clinical

diagno sis o f andro gen insensitivity diagno sis o f andro gen insensitivity

Akcay T., Fernandez-Cancio M., Turan S., Gueran T., Audi L., Bereket A.

ANDROLOGY, cilt.2, sa.4, ss.572-578, 2014 (SCI İndekslerine Giren Dergi)

CXXXVII. No vel ho mo zygo us inactivating mutatio n o f the calcium-sensing recepto r gene (CASR) in neo natalNo vel ho mo zygo us inactivating mutatio n o f the calcium-sensing recepto r gene (CASR) in neo natal severe hyperparathyro idism-lack o f effect o f cinacalcet.

severe hyperparathyro idism-lack o f effect o f cinacalcet.

Atay Z., BEREKET A., Haliloglu B., Abali S., Ozdogan T., Altuncu E., Canaff L., Vilaca T., Wong B. Y. L. , Cole D. E. C. , et al.

Bone, cilt.64, ss.102-7, 2014 (SCI Expanded İndekslerine Giren Dergi)

CXXXVIII. Cathepsin K analysis in a pycno dyso sto sis co ho rt: demo graphic, geno typic and pheno typic featuresCathepsin K analysis in a pycno dyso sto sis co ho rt: demo graphic, geno typic and pheno typic features Arman A., Bereket A., Çoker A., Şimşek Kiper P. Ö. , Güran T., Özkan B., Atay Z., Akcay T., Haliloglu B., Boduroglu K., et al.

ORPHANET JOURNAL OF RARE DISEASES, cilt.9, 2014 (SCI İndekslerine Giren Dergi)

CXXXIX. The frequency and the effects o f 21 The frequency and the effects o f 21 Hydro xylase gene defects in co ngenital adrenal hyperplasialHydro xylase gene defects in co ngenital adrenal hyperplasial patients

patients

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KIRAÇ D., GÜNEY A. İ. , Akçay T., Güran t., ULUCAN K., TURAN S., ERGEÇ D., KOÇ G., EREN F., KASPAR E. Ç. , et al.

Annals Of Human Genetics, 2014 (SCI Expanded İndekslerine Giren Dergi)

CXL. Po stnatal Establishment o f Allelic Gas Silencing as a Plausible Explanatio n fo r D elayed Onset o fPo stnatal Establishment o f Allelic Gas Silencing as a Plausible Explanatio n fo r D elayed Onset o f Parathyro id Ho rmo ne Resistance Owing to Hetero zygo us Gas D isruptio n

Parathyro id Ho rmo ne Resistance Owing to Hetero zygo us Gas D isruptio n

Turan S., Fernandez-Rebollo E., Aydin C., Zoto T., Reyes M., Bounoutas G., Chen M., Weinstein L. S. , Erben R. G. , Marshansky V., et al.

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encephalo -cardio myo pathy.

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