Publications by authors named "Serap Turan"

100Publications

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study.

Lancet Diabetes Endocrinol 2020 07;8(7):594-605

Academic Center For Thyroid Disease, Department of Internal Medicine, Erasmus Medical Center, Rotterdam, Netherlands. Electronic address:

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http://dx.doi.org/10.1016/S2213-8587(20)30153-4DOI Listing
July 2020

Fibroblast Growth Factor-23 and Matrix Extracellular Phosphoglycoprotein Levels in Healthy Children and, Pregnant and Puerperal Women.

Horm Res Paediatr 2019 18;92(5):302-310. Epub 2020 Mar 18.

Division of Pediatric Endocrinology, Department of Pediatrics, Marmara University School of Medicine, Istanbul, Turkey,

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http://dx.doi.org/10.1159/000506477DOI Listing
June 2020

Clinical Significance of Hypophosphatasemia in Children.

Calcif Tissue Int 2020 06 22;106(6):608-615. Epub 2020 Feb 22.

Division of Endocrinology, Department of Pediatrics, Marmara University School of Medicine, Istanbul, Turkey.

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http://dx.doi.org/10.1007/s00223-020-00677-4DOI Listing
June 2020

Rapid progression of type 2 diabetes and related complications in children and young people-A literature review.

Pediatr Diabetes 2020 03 10;21(2):158-172. Epub 2020 Jan 10.

Endocrinology, Diabetes & Metabolism Institute, Rambam Health Care Campus, Haifa, Israel.

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http://dx.doi.org/10.1111/pedi.12953DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7028065PMC
March 2020

Adrenocortical carcinoma in atypical Beckwith-Wiedemann syndrome due to loss of methylation at imprinting control region 2.

Pediatr Blood Cancer 2020 01 14;67(1):e28042. Epub 2019 Oct 14.

Department of Paediatric Endocrinology and Diabetes, School of Medicine, Marmara University, Istanbul, Turkey.

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http://dx.doi.org/10.1002/pbc.28042DOI Listing
January 2020

A rare cause of hypertension in childhood: Answers.

Pediatr Nephrol 2020 01 20;35(1):79-82. Epub 2019 Sep 20.

Department of Pediatric Endocrinology and Diabetes, Marmara University, School of Medicine, Fevzi Çakmak Mahallesi, Muhsin Yazıcıoğlu Caddesi, No: 10 34899 Pendik, Istanbul, Turkey.

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http://dx.doi.org/10.1007/s00467-019-04329-0DOI Listing
January 2020

A rare cause of hypertension in childhood: Questions.

Pediatr Nephrol 2020 01 20;35(1):77-78. Epub 2019 Sep 20.

Department of Pediatric Endocrinology and Diabetes, Marmara University, School of Medicine, Fevzi Çakmak Mahallesi, Muhsin Yazıcıoğlu Caddesi, No:10 34899 Pendik, Istanbul, Turkey.

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http://dx.doi.org/10.1007/s00467-019-04326-3DOI Listing
January 2020

Rare cause of severe hypertension in an adolescent boy presenting with short stature: Answers.

Pediatr Nephrol 2020 03 16;35(3):405-407. Epub 2019 Sep 16.

School of Medicine, Department of Pediatric Endocrinology and Diabetes, Marmara University, Fevzi Çakmak Mahallesi, Muhsin Yazıcıoğlu Caddesi, No:10 34899 Pendik, Istanbul, Turkey.

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http://dx.doi.org/10.1007/s00467-019-04352-1DOI Listing
March 2020

Rare cause of severe hypertension in an adolescent boy presenting with short stature: Questions.

Pediatr Nephrol 2020 03 16;35(3):403-404. Epub 2019 Sep 16.

School of Medicine, Department of Pediatric Endocrinology and Diabetes, Marmara University, Fevzi Çakmak Mahallesi, Muhsin Yazıcıoğlu Caddesi, No:10 34899 Pendik, Istanbul, Turkey.

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http://dx.doi.org/10.1007/s00467-019-04351-2DOI Listing
March 2020

Letter to the Editor: Dysosteosclerosis related to the unique mutation in SLC29A3.

Authors:
Serap Turan

Bone 2019 11 2;128:115057. Epub 2019 Sep 2.

Marmara University School of Medicine, Department of Paediatric Endocrinology and Diabetes, Fevzi Cakmak Mh. Muhsin Yazicioglu Cd.No 41., Ustkaynarca/Pendik, 34899 Istanbul, Turkey. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2019.115057DOI Listing
November 2019

Low DHEAS Concentration in a Girl Presenting with Short Stature and Premature Pubarche: A Novel PAPSS2 Gene Mutation.

Horm Res Paediatr 2019 28;92(4):262-268. Epub 2019 Aug 28.

Department of Pediatric Endocrinology and Diabetes, Marmara University School of Medicine, Istanbul, Turkey.

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http://dx.doi.org/10.1159/000502114DOI Listing
May 2020

Restoration of Height after 11 Years of Letrozole Treatment in 11β-Hydroxylase Deficiency.

Horm Res Paediatr 2019 27;92(3):203-208. Epub 2019 Aug 27.

Department of Pediatric Endocrinology and Diabetes, Marmara University, Istanbul, Turkey.

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https://www.karger.com/Article/FullText/501456
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http://dx.doi.org/10.1159/000501456DOI Listing
May 2020

Recommendations for improving clinical trial design to facilitate the study of youth-onset type 2 diabetes.

Clin Trials 2020 02 26;17(1):87-98. Epub 2019 Aug 26.

Department of Paediatrics, Paracelsus Medical University, Salzburg, Austria.

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http://dx.doi.org/10.1177/1740774519870190DOI Listing
February 2020

Liraglutide in Children and Adolescents with Type 2 Diabetes.

N Engl J Med 2019 08 28;381(7):637-646. Epub 2019 Apr 28.

From the Department of Pediatrics, Yale University, New Haven, CT (W.V.T.); Pediatric Endocrinology, Angeles Hospital of Puebla, Puebla City, Mexico (M.B.-P.); Novo Nordisk, Søborg, Denmark (U.F., H.F.-L.); the Diabetes and Endocrinology Unit, Department of Paediatrics, Cairo University, Cairo (M.H.); Novo Nordisk, Plainsboro, NJ (P.M.H.); the Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia (M.Y.J.); Novosibirsk Medical University, Novosibirsk, Russia (M.K.); the Division of Pediatric Endocrinology and Diabetes, UPMC Children's Hospital of Pittsburgh, Pittsburgh (I.L.); University of Texas Health Science Center at San Antonio, San Antonio (J.L.L.); the Diabetes Research Society, Hyderabad, India (P.R.); the Endocrinology, Diabetes and Metabolism Institute, Rambam Health Care Campus, Haifa, Israel (N.S.); the Department of Pediatrics, Subdivision of Endocrinology and Diabetes, Marmara University School of Medicine, Istanbul, Turkey (S.T.); the Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria (D.W.); and the Institute of Cancer and Genomic Sciences, University of Birmingham,and Birmingham Women's and Children's Hospital, Birmingham, United Kingdom (T.B.).

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http://dx.doi.org/10.1056/NEJMoa1903822DOI Listing
August 2019

Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta.

Am J Med Genet A 2019 06 21;179(6):908-914. Epub 2019 Mar 21.

Department of Biomolecular Medicine, Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61119
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http://dx.doi.org/10.1002/ajmg.a.61119DOI Listing
June 2019

Evaluation of growth and puberty in a child with a novel TBX19 gene mutation and review of the literature.

Hormones (Athens) 2019 Jun 12;18(2):229-236. Epub 2019 Feb 12.

Department of Pediatric Endocrinology and Diabetes, Marmara University School of Medicine, Istanbul, Turkey.

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http://dx.doi.org/10.1007/s42000-019-00096-7DOI Listing
June 2019

Acquired modification of sphingosine-1-phosphate lyase activity is not related to adrenal insufficiency.

BMC Neurol 2018 Apr 23;18(1):48. Epub 2018 Apr 23.

Department of Paediatric Endocrinology and Diabetes, Marmara University, Fevzi Cakmak Mh. Mimar Sinan Cd.No 41., Ustkaynarca/Pendik, 34899, Istanbul, Turkey.

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http://dx.doi.org/10.1186/s12883-018-1049-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5911956PMC
April 2018

Current Nomenclature of Pseudohypoparathyroidism: Inactivating Parathyroid Hormone/Parathyroid Hormone-Related Protein Signaling Disorder.

Authors:
Serap Turan

J Clin Res Pediatr Endocrinol 2017 Dec 27;9(Suppl 2):58-68. Epub 2017 Dec 27.

Marmara University Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey.

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http://dx.doi.org/10.4274/jcrpe.2017.S006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5790322PMC
December 2017

Persistent hyperglycemia in a neonate: Is it a complication of therapeutic hypothermia?

Turk J Pediatr 2017 ;59(2):193-196

Divisions of Neonatology, Department of Pediatrics, Marmara University Faculty of Medicine, Istanbul, Turkey.

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http://dx.doi.org/10.24953/turkjped.2017.02.013DOI Listing
November 2018

The Distribution of Different Types of Diabetes in Childhood: A Single Center Experience

J Clin Res Pediatr Endocrinol 2018 06 24;10(2):125-130. Epub 2017 Nov 24.

Marmara University Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey

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http://dx.doi.org/10.4274/jcrpe.5204DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985381PMC
June 2018

Pycnodysostosis at otorhinolaryngology.

Int J Pediatr Otorhinolaryngol 2017 Apr 11;95:91-96. Epub 2017 Feb 11.

Marmara University, School of Medicine, Department of Otorhinolaryngology, Fevzi Çakmak Parish MuhsinYazıcıoğlust. No: 10, Kaynarca, Pendik, Istanbul, Turkey. Electronic address:

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http://dx.doi.org/10.1016/j.ijporl.2017.02.009DOI Listing
April 2017

Heterotrimeric G proteins in the control of parathyroid hormone actions.

J Mol Endocrinol 2017 05;58(4):R203-R224

Endocrine UnitDepartment of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1530/JME-16-0221DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5650080PMC
May 2017

Hypoglycemia is common in children with cystic fibrosis and seen predominantly in females.

Pediatr Diabetes 2017 Nov 22;18(7):607-613. Epub 2016 Nov 22.

Department of Pediatric Endocrinology, Marmara University, School of Medicine, Istanbul, Turkey.

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http://doi.wiley.com/10.1111/pedi.12470
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http://dx.doi.org/10.1111/pedi.12470DOI Listing
November 2017

From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network.

Eur J Endocrinol 2016 Dec 11;175(6):P1-P17. Epub 2016 Jul 11.

APHPReference Center for rare disorders of the Calcium and Phosphate Metabolism, filière OSCAR and Plateforme d'Expertise Maladies Rares Paris-Sud, Hôpital Bicêtre Paris Sud, Le Kremlin Bicêtre, France

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http://dx.doi.org/10.1530/EJE-16-0107DOI Listing
December 2016

GCK gene mutations are a common cause of childhood-onset MODY (maturity-onset diabetes of the young) in Turkey.

Clin Endocrinol (Oxf) 2016 09 5;85(3):393-9. Epub 2016 Jul 5.

Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.

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http://doi.wiley.com/10.1111/cen.13121
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http://dx.doi.org/10.1111/cen.13121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4988380PMC
September 2016

Cathepsin K osteoporosis trials, pycnodysostosis and mouse deficiency models: Commonalities and differences.

Expert Opin Drug Discov 2016 22;11(5):457-72. Epub 2016 Mar 22.

d Department of Pediatric Endocrinology , Marmara University , Istanbul , Turkey.

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http://dx.doi.org/10.1517/17460441.2016.1160884DOI Listing
December 2016

The Etiology and Clinical Features of Non-CAH Gonadotropin-Independent Precocious Puberty: A Multicenter Study.

J Clin Endocrinol Metab 2016 05 10;101(5):1980-8. Epub 2016 Mar 10.

Department of Pediatric Endocrinology, Marmara University Medical School (Z.A., S.T., T.G., A.B.), Istanbul, Turkey; Department of Pediatric Endocrinology, Gulhane Military Medical School (E.Y., E.S.), Ankara Turkey; Department of Pediatric Endocrinology, Dr. Sami Ulus Research Hospital (S.S.E., Z.A., S.C.), Ankara, Turkey; Department of Pediatric Endocrinology, Erciyes University Medical School (L.A., S.K.), Kayseri, Turkey; Department of Pediatric Endocrinology, Uludag University Medical School (E.E., H.S.), Bursa, Turkey; Department of Pediatric Endocrinology, Gazi University Medical School (E.D., A.B.), Ankara, Turkey; Department of Pediatric Endocrinology, Istanbul University Medical School (Z.Y.A.), Istanbul, Turkey; Department of Pediatric Endocrinology, Inonu University Medical School (A.A.), Malatya, Turkey; Department of Pediatric Endocrinology, Ankara University Medical School (Z.S.), Ankara, Turkey; Department of Pediatric Endocrinology, Ege University Medical School (S.O.), Izmir, Turkey; Department of Pediatric Endocrinology, Ondokuz Mayıs University Medical School (C.K.), Samsun, Turkey; Department of Pediatric Endocrinology, Diskapi Research Hospital (M.T.), Ankara, Turkey; Department of Pediatric Endocrinology, Trakya University Medical School (F.T.), Edirne, Turkey; Department of Pediatric Endocrinology, Kocaeli University Medical School (G.S.K.), Kocaeli, Turkey; Department of Pediatric Endocrinology, Karadeniz Technical University Medical School (G.K.), Trabzon, Turkey.

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http://dx.doi.org/10.1210/jc.2015-3500DOI Listing
May 2016

Growth curves for Turkish Girls with Turner Syndrome: Results of the Turkish Turner Syndrome Study Group.

J Clin Res Pediatr Endocrinol 2015 Sep;7(3):183-91

Gülhane Military Medicine Academy, Department of Pediatric Endocrinology, Ankara, Turkey Phone: +90 312 304 18 98 E-mail:

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http://dx.doi.org/10.4274/jcrpe.2023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4677552PMC
September 2015

Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort.

J Clin Endocrinol Metab 2016 Jan 2;101(1):284-92. Epub 2015 Nov 2.

Department of Pediatric Endocrinology and Diabetes (T.G., Z.A., A.B., S.T.), Marmara University, Istanbul 34899, Turkey; Institute of Metabolism and Systems Research (T.G.), University of Birmingham, Birmingham B15 2TT, United Kingdom; Department of Genetics and Genomic Medicine (F.B., J.S., J.C.A.), University College London Institute of Child Health, University College London, London WC1N 1EH, United Kingdom; Department of Pediatric Endocrinology and Diabetes (N.S., F.B., B.K.A., Z.Y.A.), Istanbul Faculty of Medicine, Istanbul University, 34452 Istanbul, Turkey; Clinics of Pediatric Endocrinology (M.N.O., H.D.), Diyarbakir Children's Hospital, 21100 Diyarbakir, Turkey; Clinics of Pediatric Endocrinology (Z.A., S.Y.A.), Dr Sami Ulus Obstetrics and Gynecology, Children's Health and Disease Training and Research Hospital, 06100 Ankara, Turkey; Department of Pediatric Endocrinology and Diabetes (S.D., S.O.), Ege University, 35040 Izmir, Turkey; Department of Pediatric Endocrinology and Diabetes (A.B., E.D.), Gazi University, 06550 Ankara, Turkey; Pediatric Endocrinology Clinic (A.G., M.Y.), Goztepe Educational and Research Hospital, 34810 Istanbul, Turkey; Department of Pediatrics (A.G.), Amasya University Medical Faculty, 05189 Amasya, Turkey; Pediatric Endocrinology Clinic (K.D.), Dr Behçet Uz Children's Hospital, Izmir, Turkey; Department of Pediatric Endocrinology and Diabetes (A.A.), Inonu University, Malatya, Turkey; Clinics of Pediatric Endocrinology (M.B.), Konya Training and Research Hospital, 42100 Konya, Turkey; Department of Pediatric Endocrinology and Diabetes (O.T.), Uludag University, 16059 Bursa, Turkey; Department of Pediatric Endocrinology and Diabetes (G.C.), Eylul University, 35210 Izmir, Turkey; Department of Pediatric Endocrinology and Diabetes (B.Y.), Cukurova University, 01330 Adana, Turkey; Clinics of Pediatric Endocrinology (T.A.), Kanuni Sultan Suleyman Education and Research Hospital, 34303 Istanbul, Turkey; Pediatric Endocrinology Clinic

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https://academic.oup.com/jcem/article-pdf/101/1/284/8920007/
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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2015-3250DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4701852PMC
January 2016

Normative Data of Thyroid Volume-Ultrasonographic Evaluation of 422 Subjects Aged 0-55 Years.

J Clin Res Pediatr Endocrinol 2015 Jun;7(2):98-101

Marmara University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Allergy and Immunology, İstanbul, Turkey Phone: +90 216 625 28 40 E-mail:

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http://dx.doi.org/10.4274/jcrpe.1818DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4563193PMC
June 2015

H syndrome: a multifaceted histiocytic disorder with hyperpigmentation and hypertrichosis.

Acta Derm Venereol 2015 Nov;95(8):1021-3

Department of Dermatology, Marmara University School of Medicine, 34899 Istanbul, Turkey.

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http://dx.doi.org/10.2340/00015555-2145DOI Listing
November 2015

GNAS Spectrum of Disorders.

Curr Osteoporos Rep 2015 Jun;13(3):146-58

Pediatric Endocrinology, Marmara University School of Medicine Hospital, Istanbul, Turkey,

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http://dx.doi.org/10.1007/s11914-015-0268-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4417430PMC
June 2015

Turner syndrome and associated problems in Turkish children: a multicenter study.

J Clin Res Pediatr Endocrinol 2015 Mar;7(1):27-36

Gülhane Military Medicine Academy, Department of Pediatric Endocrinology, Ankara, Turkey. E-mail:

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http://dx.doi.org/10.4274/jcrpe.1771DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4439889PMC
March 2015

Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism.

J Clin Endocrinol Metab 2015 May 16;100(5):E808-14. Epub 2015 Mar 16.

Department of Molecular and Human Genetics (Y.B., T.Ga., M.M.A., E.K., D.P., J.R.L.), Baylor College of Medicine, Houston, Texas 77030; Department of Medicine, Division of Medical Genetics (S.G., H.U.G., S.B.P., M.L., T.W., M.-C.K.), University of Washington, Seattle, Washington 98195; Department of Pediatric Endocrinology and Diabetes (T.Gu., Z.A., S.T., A.Be.), Marmara University Hospital, Istanbul, Turkey 34899; Department of Pediatric Endocrinology (A.Ab., E.Bob., A.Bu.), Dokuz Eylül University Faculty of Medicine, Izmir, Turkey 35340; Department of Medical Genetics (G.Y.), Bezmialem University, Istanbul, Turkey 34093; Human Genome Sequencing Center (S.N.J., D.M., E.Boe., R.A.G.), Baylor College of Medicine, Houston, Texas 77030; Human Genetics Center (E.Boe.), University of Texas Health Science Center at Houston, Houston, Texas 77030; Department of Pediatrics (J.R.L.), Baylor College of Medicine, Houston, Texas 77030; and Texas Children's Hospital (J.R.L.), Houston, Texas 77030.

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http://dx.doi.org/10.1210/jc.2015-1150DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422898PMC
May 2015

Premature pubarche, hyperinsulinemia and hypothyroxinemia: novel manifestations of congenital portosystemic shunts (Abernethy malformation) in children.

Horm Res Paediatr 2015 7;83(4):282-7. Epub 2015 Feb 7.

Department of Pediatric Endocrinology, Marmara University Hospital, Istanbul, Turkey.

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http://dx.doi.org/10.1159/000369395DOI Listing
February 2016

Clinical and cephalometric analysis of three cases with pycnodysostosis: case reports.

J Istanb Univ Fac Dent 2015 31;49(1):51-55. Epub 2015 Jan 31.

Department of Orthodontics, Faculty of Dentistry, Istanbul University, Turkey.

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http://dx.doi.org/10.17096/jiufd.70673DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5573464PMC
January 2015

Evidence of hormone resistance in a pseudo-pseudohypoparathyroidism patient with a novel paternal mutation in GNAS.

Bone 2015 Feb 18;71:53-7. Epub 2014 Oct 18.

Endocrine Unit, Massachusetts General Hospital, Harvard Medical School, Boston, USA. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2014.10.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4273232PMC
February 2015

Current research on pycnodysostosis.

Authors:
Serap Turan

Intractable Rare Dis Res 2014 Aug;3(3):91-3

Department of Pediatric Endocrinology, Marmara University, Istanbul, Turkey.

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http://dx.doi.org/10.5582/irdr.2014.01014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4214243PMC
August 2014

The frequency and the effects of 21-hydroxylase gene defects in congenital adrenal hyperplasia patients.

Ann Hum Genet 2014 Nov 17;78(6):399-409. Epub 2014 Sep 17.

Marmara University, Faculty of Medicine, Department of Pediatric Endocrinology, Istanbul, Turkey.

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http://dx.doi.org/10.1111/ahg.12083DOI Listing
November 2014

Effects of leukemia inhibitory receptor gene mutations on human hypothalamo-pituitary-adrenal function.

Pituitary 2015 Aug;18(4):456-60

Department of Pediatric Endocrinology, Faculty of Medicine, Marmara University Hospital, Fevzi Cakmak Mh.Mimar Sinan Cd.No 41., Ustkaynarca/Pendik, 34899, Istanbul, Turkey,

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http://dx.doi.org/10.1007/s11102-014-0594-5DOI Listing
August 2015

Higher insulin detemir doses are required for the similar glycemic control: comparison of insulin detemir and glargine in children with type 1 diabetes mellitus.

Pediatr Diabetes 2015 Aug 11;16(5):361-6. Epub 2014 Jul 11.

Department of Paediatric Endocrinology and Diabetes, Marmara University, School of Medicine, Istanbul, Turkey.

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http://dx.doi.org/10.1111/pedi.12167DOI Listing
August 2015

Does common channel length affect surgical choice in female congenital adrenal hyperplasia patients?

J Pediatr Urol 2014 Oct 21;10(5):948-54. Epub 2014 Mar 21.

Marmara University, School of Medicine, Department of Pediatric Surgery, Division of Pediatric Urology, Istanbul, Turkey.

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http://dx.doi.org/10.1016/j.jpurol.2014.02.012DOI Listing
October 2014

Identification of PENDRIN (SLC26A4) mutations in patients with congenital hypothyroidism and "apparent" thyroid dysgenesis.

J Clin Endocrinol Metab 2014 Jan 20;99(1):E169-76. Epub 2013 Dec 20.

Institute of Experimental Pediatric Endocrinology (P.K., H.B., A.G., H.K.), Charité Universitätsmedizin Berlin, 13353 Berlin, Germany; Department of Pediatric Endocrinology and Diabetes (S.T., T.G., S.A., A.B.), Marmara University Hospital, 34722 Istanbul, Turkey; and Max-Delbrück Center for Molecular Medicine (S.F., W.C.), 13092 Berlin-Buch, Germany.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2013-2619DOI Listing
January 2014

The GNAS complex locus and human diseases associated with loss-of-function mutations or epimutations within this imprinted gene.

Horm Res Paediatr 2013 3;80(4):229-41. Epub 2013 Oct 3.

Pediatric Endocrinology, Marmara University School of Medicine Hospital, Istanbul, Turkey.

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http://dx.doi.org/10.1159/000355384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3874326PMC
June 2014

Postnatal establishment of allelic Gαs silencing as a plausible explanation for delayed onset of parathyroid hormone resistance owing to heterozygous Gαs disruption.

J Bone Miner Res 2014 Mar;29(3):749-60

Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA; Pediatric Endocrinology, Marmara University School of Medicine Hospital, Istanbul, Turkey.

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http://dx.doi.org/10.1002/jbmr.2070DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3926912PMC
March 2014

Maternal thyroid dysfunction and neonatal thyroid problems.

Int J Endocrinol 2013 30;2013:987843. Epub 2013 Apr 30.

Department of Pediatrics, Division of Neonatology, Marmara University School of Medicine, Istanbul, Turkey.

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http://dx.doi.org/10.1155/2013/987843DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3657451PMC
June 2013

A novel homozygous TMEM70 mutation results in congenital cataract and neonatal mitochondrial encephalo-cardiomyopathy.

Gene 2013 Feb 9;515(1):197-9. Epub 2012 Dec 9.

Department of Pediatric Endocrinology, School of Medicine, Marmara University, İstanbul, Turkey.

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http://dx.doi.org/10.1016/j.gene.2012.11.044DOI Listing
February 2013

Infantile loss of teeth: odontohypophosphatasia or childhood hypophosphatasia.

Eur J Pediatr 2013 Jun 24;172(6):851-3. Epub 2012 Oct 24.

Department of Pediatrics, Division of Pediatric Endocrinology, School of Medicine, Marmara University, Fevzi Cakmak Mah. Mimar Sinan Cad. No:41Pendik, Istanbul, Turkey.

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June 2013

Loss of XLαs (extra-large αs) imprinting results in early postnatal hypoglycemia and lethality in a mouse model of pseudohypoparathyroidism Ib.

Proc Natl Acad Sci U S A 2012 Apr 10;109(17):6638-43. Epub 2012 Apr 10.

Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.

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http://dx.doi.org/10.1073/pnas.1117608109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3340037PMC
April 2012

Pitfalls in the diagnosis of thyroid dysgenesis by thyroid ultrasonography and scintigraphy.

Eur J Endocrinol 2012 Jan 17;166(1):43-8. Epub 2011 Oct 17.

Department of Pediatric Endocrinology, Marmara University, Fevzi Çakmak Mahallesi, Mimar Sinan Caddesi, No: 41 Ust Kaynarca, Pendik, 34890 Istanbul, Turkey.

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http://dx.doi.org/10.1530/EJE-11-0140DOI Listing
January 2012

Extra-long Gαs variant XLαs protein escapes activation-induced subcellular redistribution and is able to provide sustained signaling.

J Biol Chem 2011 Nov 2;286(44):38558-69. Epub 2011 Sep 2.

Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA.

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http://dx.doi.org/10.1074/jbc.M111.240150DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3207409PMC
November 2011

The prevalence and risk factors of premature thelarche and pubarche in 4- to 8-year-old girls.

Acta Paediatr 2012 Feb 23;101(2):e71-5. Epub 2011 Sep 23.

Department of Pediatric Endocrinology, School of Medicine, Marmara University, Istanbul, Turkey.

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http://dx.doi.org/10.1111/j.1651-2227.2011.02444.xDOI Listing
February 2012

Puberty and influencing factors in schoolgirls living in Istanbul: end of the secular trend?

Pediatrics 2011 Jul 13;128(1):e40-5. Epub 2011 Jun 13.

Department of Pediatric Endocrinology, Marmara University, School of Medicine, Istanbul, Turkey.

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http://dx.doi.org/10.1542/peds.2010-2267DOI Listing
July 2011

Clinical and molecular characterization of Turkish patients with familial hypomagnesaemia: novel mutations in TRPM6 and CLDN16 genes.

Nephrol Dial Transplant 2012 Feb 9;27(2):667-73. Epub 2011 Jun 9.

Department of Paediatrics, Division of Paediatric Endocrinology, Marmara University Hospital, Istanbul, Turkey.

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http://dx.doi.org/10.1093/ndt/gfr300DOI Listing
February 2012

Cognitive and psychosocial development in children with familial hypomagnesaemia.

Magnes Res 2011 Mar;24(1):7-12

Marmara University, Department of Pediatric Endocrinology and Diabetes, Istanbul, Turkey.

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March 2011

Prevalence of type 1 diabetes mellitus in 6-18-yr-old school children living in Istanbul, Turkey.

Pediatr Diabetes 2011 Sep 21;12(6):567-71. Epub 2011 Mar 21.

Department of Pediatric Endocrinology, Marmara University, Istanbul, Turkey.

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September 2011

Radiologic and hormonal evaluation of pituitary abnormalities in patients with Bardet-Biedl syndrome.

Clin Dysmorphol 2011 Jan;20(1):26-31

Department of Pediatric Endocrinology, Faculty of Medicine, Marmara University, Altunizade, Istanbul, Turkey.

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January 2011

Content analysis of food advertising in Turkish television.

J Paediatr Child Health 2010 Jul 8;46(7-8):427-30. Epub 2010 Jun 8.

Marmara University, Faculty of Medicine, Department of Pediatric Endocrinology and Diabetes, Altunizade, Istanbul-Turkey.

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July 2010

Recessive versus imprinted disorder: consanguinity can impede establishing the diagnosis of autosomal dominant pseudohypoparathyroidism type Ib.

Eur J Endocrinol 2010 Sep 10;163(3):489-93. Epub 2010 Jun 10.

Endocrine Unit Pediatric Nephrology Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA.

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http://dx.doi.org/10.1530/EJE-10-0348DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2990771PMC
September 2010

Deletion of the noncoding GNAS antisense transcript causes pseudohypoparathyroidism type Ib and biparental defects of GNAS methylation in cis.

J Clin Endocrinol Metab 2010 Aug 5;95(8):3993-4002. Epub 2010 May 5.

Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, 50 Blossom Street Thier 10, Boston, Massachusetts 02114, USA.

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http://dx.doi.org/10.1210/jc.2009-2205DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2913043PMC
August 2010

T4 plus T3 treatment in children with hypothyroidism and inappropriately elevated thyroid-stimulating hormone despite euthyroidism on T4 treatment.

Horm Res Paediatr 2010 9;73(2):108-14. Epub 2010 Feb 9.

Department of Pediatrics, Division of Pediatric Endocrinology, Marmara University, Istanbul, Turkey.

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http://dx.doi.org/10.1159/000277627DOI Listing
August 2010

Alopecia: association with resistance to thyroid hormones.

J Pediatr Endocrinol Metab 2009 Nov;22(11):1075-81

Department of Pediatric Endocrinology and Diabetes, Marmara University Hospital, Istanbul.

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November 2009

Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor.

J Clin Endocrinol Metab 2009 Oct 15;94(10):3633-3639. Epub 2009 Sep 15.

Pediatric Endocrinology (T.G., A.B., S.T., T.A., Z.A.), Marmara University Hospital, Altunizade, 34662 Istanbul, Turkey; University of Cambridge (F.R., F.M.G., G.T.), Department of Clinical Biochemistry, Addenbrooke's Hospital, Cambridge CB2 8RP, United Kingdom; University of Cambridge Metabolic Research Laboratories (N.R., K.P., S.O., R.K.S.), Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge CB2 8RP, United Kingdom; Forensic Medicine (L.D.K., H.C., A.S.), Cukurova University, Faculty of Medicine, Balcali, 01330 Adana, Turkey; and Pediatric Endocrinology and Metabolism (A.K.T.), Cukurova University, Faculty of Medicine, Balcali, 01330 Adana, Turkey.

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http://dx.doi.org/10.1210/jc.2009-0551DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4306717PMC
October 2009

Cushing's syndrome due to a non-adrenal ectopic adrenocorticotropin-secreting Ewing's sarcoma in a child.

J Pediatr Endocrinol Metab 2009 Apr;22(4):363-8

Pediatric Endocrinology and Diabetes, Marmara University, Istanbul, Turkey.

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April 2009

Puberty in a case with novel 17-hydroxylase mutation and the putative role of estrogen in development of pubic hair.

Eur J Endocrinol 2009 Feb 7;160(2):325-30. Epub 2008 Nov 7.

Division of Pediatric Endocrinology, Department of Pediatrics, Marmara University, Altunizade, Uskudar, 34660 Istanbul, Turkey.

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http://dx.doi.org/10.1530/EJE-08-0632DOI Listing
February 2009

Screening of parents and siblings of patients with thyroid dysgenesis by thyroid function tests and ultrasound.

Horm Res 2008 27;70(6):329-39. Epub 2008 Oct 27.

Pediatric Endocrinology Department of Marmara University, Istanbul, Turkey.

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February 2009