List of works - Serap Turan

A case of glycogen storage disease type II with double aortic arch

scientific article published on 01 July 2000

A mutation in thyroid hormone receptor beta causing "resistance to thyroid hormone" in a neonate

scientific article published on 01 August 2010

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

scientific article published on 09 December 2012

A patient with hypopituitarism and isochromosome 18q mosaicism

scientific article published on 18 October 2005

A rare cause of hypertension in childhood: Answers

scientific article published on 20 September 2019

A rare cause of hypertension in childhood: Questions

scientific article published on 20 September 2019

AR and SRD5A2 gene mutations in a series of 51 Turkish 46,XY DSD children with a clinical diagnosis of androgen insensitivity

scientific article published on 16 April 2014

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

scientific article published on 23 April 2018

Addition of orlistat to conventional treatment in adolescents with severe obesity

scientific article published in December 2004

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

scientific article published on 14 October 2019

Adult height in Turkish patients with Turner syndrome without growth hormone treatment.

scientific article published in September 2008

Alendronate treatment in children with osteogenesis imperfecta.

scientific article published in February 2008

Alopecia: association with resistance to thyroid hormones

scientific article published in November 2009

An atypical case of familial glucocorticoid deficiency without pigmentation caused by coexistent homozygous mutations in MC2R (T152K) and MC1R (R160W).

scientific article

Anthropometric findings from birth to adulthood and their relation with karyotpye distribution in Turkish girls with Turner syndrome

scientific article published on 20 January 2016

Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development

scientific article published on 26 October 2017

Bone mineral density in children with non-cystic fibrosis bronchiectasis

scientific article published on 06 July 2007

Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features

scientific article

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

scientific article published on 22 March 2016

Characteristics of Turkish children with Type 2 diabetes at onset: a multicentre, cross-sectional study

scientific article published on 04 July 2019

Cinacalcet as a First-Line Treatment in Neonatal Severe Hyperparathyroidism Secondary to Calcium Sensing Receptor (CaSR) Mutation

scientific article published on 04 November 2020

Circulating insulin-like growth factor binding protein-4 (IGFBP-4) is not regulated by parathyroid hormone and vitamin D in vivo: evidence from children with rickets

scientific article

Clinical Significance of Hypophosphatasemia in Children

scientific article published on 22 February 2020

Clinical and Laboratory Characteristics of Hyperprolactinemia in Children and Adolescents: National Survey

scientific article published on 5 November 2018

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

scientific article published on 31 January 2015

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

scientific article published on 09 June 2011

Cognitive and psychosocial development in children with familial hypomagnesaemia

scientific article

Comparison of capillary blood ketone measurement by electrochemical method and urinary ketone in treatment of diabetic ketosis and ketoacidosis in children

scientific article

Constitutional growth delay pattern of growth in velo-cardio-facial syndrome: longitudinal follow up and final height of two cases

scientific article

Content analysis of food advertising in Turkish television

scientific article

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

scientific article

Current practice in diagnosis and treatment of growth hormone deficiency in childhood: a survey from Turkey

scientific article published on March 2015

Current research on pycnodysostosis

scientific article published on August 2014

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

scientific article published on 01 April 2009

De novo STX16 deletions: an infrequent cause of pseudohypoparathyroidism type Ib that should be excluded in sporadic cases

scientific article

Deletion of the Noncoding GNAS Antisense Transcript Causes Pseudohypoparathyroidism Type Ib and Biparental Defects of GNAS Methylation in cis.

scientific article

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

scientific article

Detection of Y chromosomal material in patients with a 45,X karyotype by PCR method

scientific article

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

article by Giovanna Mantovani et al published August 2018 in Nature Reviews Endocrinology

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

scientific article published on 01 July 2020

Does Genotype-Phenotype Correlation Exist in Vitamin D-Dependent Rickets Type IA: Report of 13 New Cases and Review of the Literature

scientific article published on 02 January 2021

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

scientific article published on 21 March 2014

Effect of zinc supplementation on growth hormone secretion, IGF-I, IGFBP-3, somatomedin generation, alkaline phosphatase, osteocalcin and growth in prepubertal children with idiopathic short stature

scientific article

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

scientific article

Evaluation and Treatment Results of Ovarian Cysts in Childhood and Adolescence: A Multicenter, Retrospective Study of 100 Patients

scientific article

Evaluation of diagnosis and treatment results in children with Graves' disease with emphasis on the pubertal status of patients

scientific article published in August 2008

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

article

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

scientific article

Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: evidence for an autosomal recessive form of PHP-Ib?

scientific article published on August 2011

Exome sequencing of a primary ovarian insufficiency cohort reveals common molecular etiologies for a spectrum of disease

scientific article published on 01 August 2019

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

scientific article published on 2 September 2011

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

scientific article published on 18 March 2020

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

scientific article

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

scientific article published on 3 June 2016

GNAS Spectrum of Disorders

scientific article published on June 2015

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

scientific article

H syndrome: a multifaceted histiocytic disorder with hyperpigmentation and hypertrichosis

scientific article published on 27 May 2015

Height, weight, IGF-I, IGFBP-3 and thyroid functions in prepubertal children with attention deficit hyperactivity disorder: effect of methylphenidate treatment

scientific article published on 24 March 2005

Heterotrimeric G proteins in the control of parathyroid hormone actions

scientific article published on May 2017

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

scientific article published on 11 July 2014

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

scientific article published on 16 March 2015

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

scientific article published on 22 November 2016

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

scientific article

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

scientific article published on 20 December 2013

Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia

scientific article

Incidence of Type 1 Diabetes in Children Aged Below 18 Years during 2013-2015 in Northwest Turkey

scientific article published on 23 May 2018

Increased QT dispersion in breath-holding spells

scientific article published in June 2004

Infantile loss of teeth: odontohypophosphatasia or childhood hypophosphatasia

scientific article

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

scientific article published on 02 September 2019

Long-term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutation

scientific article

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

scientific article published on 10 April 2012

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

scientific article published on 28 August 2019

Management of Systemic Hypersensitivity Reactions to Gonadotropin-Releasing Hormone Analogues during Treatment of Central Precocious Puberty

scientific article published on 23 January 2020

Maternal thyroid dysfunction and neonatal thyroid problems

scientific article published on 30 April 2013

Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency

scientific article published on 16 March 2018

Nationwide Hypophosphatemic Rickets Cohort Study

scientific article published on 13 September 2019

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

scientific article published in June 2015

Novel homozygous inactivating mutation of the calcium-sensing receptor gene (CASR) in neonatal severe hyperparathyroidism-lack of effect of cinacalcet.

scientific article published on 13 April 2014

PPP2R3C gene variants cause syndromic 46,XY gonadal dysgenesis and impaired spermatogenesis in humans

scientific article published on 01 May 2019

Persistent Müllerian Duct Syndrome: A Rare But Important Etiology of Inguinal Hernia and Cryptorchidism

scientific article published on 19 September 2020

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

scientific article published in January 2017

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

scientific article

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

scientific article published on March 2014

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

scientific article published on 07 February 2015

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

scientific article published on 21 March 2011

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

scientific article published on 21 March 2019

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

scientific article

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

scientific article

Pycnodysostosis at otorhinolaryngology

scientific article published on 11 February 2017

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

scientific article published on 01 January 2011

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

scientific article

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

scientific article published on 16 September 2019

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

scientific article published on 16 September 2019

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

scientific article

Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients

scientific article published on 05 August 2020

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

scientific article published on 26 August 2019

Reference data for bone speed of sound measurement by quantitative ultrasound in healthy children

article published in 2006

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

scientific article published on 27 August 2019

Risk factors for mortality caused by hypothalamic obesity in children with hypothalamic tumours.

scientific article published on 14 October 2015

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

scientific article published on 27 October 2008

Serum IGF-I and IGFBP-3 levels of Turkish children during childhood and adolescence: establishment of reference ranges with emphasis on puberty

scientific article published on 03 February 2006

Serum alkaline phosphatase levels in healthy children and evaluation of alkaline phosphatase z-scores in different types of rickets

scientific article

Severe diabetic ketoacidosis: hyperventilation or relative hypoventilation

scientific article published in May 2006

Significance of acanthosis nigricans in childhood obesity

scientific article published in June 2008

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

scientific article published on 9 February 2010

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

scientific article published on 24 November 2017

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

scientific article published on 10 March 2016

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

scientific article

The Growth Characteristics of Patients with Noonan Syndrome: Results of Three Years of Growth Hormone Treatment: A Nationwide Multicenter Study

scientific article published on 29 April 2016

The diagnostic value of soluble urokinase plasminogen activator receptor (suPAR) compared to C-reactive protein (CRP) and procalcitonin (PCT) in children with systemic inflammatory response syndrome (SIRS).

scientific article

The diagnostic value of soluble urokinase plasminogen activator receptor compared with C-reactive protein and procalcitonin in children with febrile neutropenia

scientific article published on 8 April 2016

The effect of economic status on height, insulin-like growth factor (IGF)-I and IGF binding protein-3 concentrations in healthy Turkish children.

scientific article published on 13 December 2006

The effect of the mode of delivery on neonatal thyroid function

scientific article

The exon 3-deleted/full-length growth hormone receptor polymorphism and response to growth hormone therapy in growth hormone deficiency and Turner syndrome: a multicenter study

scientific article published on 23 March 2012

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

scientific article published on 17 September 2014

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

scientific article published on 23 September 2011

The role of leptin, soluble leptin receptor, resistin, and insulin secretory dynamics in the pathogenesis of hypothalamic obesity in children

scientific article

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

scientific article published on March 2015

Two patients with Kabuki syndrome presenting with endocrine problems

scientific article published in February 2001

Upper segment/lower segment ratio and armspan-height difference in healthy Turkish children

scientific article published in April 2005

List of works by Serap Turan

A case of glycogen storage disease type II with double aortic arch

A mutation in thyroid hormone receptor beta causing "resistance to thyroid hormone" in a neonate

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

A patient with hypopituitarism and isochromosome 18q mosaicism

A rare cause of hypertension in childhood: Answers

A rare cause of hypertension in childhood: Questions

AR and SRD5A2 gene mutations in a series of 51 Turkish 46,XY DSD children with a clinical diagnosis of androgen insensitivity

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

Addition of orlistat to conventional treatment in adolescents with severe obesity

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

Adult height in Turkish patients with Turner syndrome without growth hormone treatment.

Alendronate treatment in children with osteogenesis imperfecta.

Alopecia: association with resistance to thyroid hormones

An atypical case of familial glucocorticoid deficiency without pigmentation caused by coexistent homozygous mutations in MC2R (T152K) and MC1R (R160W).

Anthropometric findings from birth to adulthood and their relation with karyotpye distribution in Turkish girls with Turner syndrome

Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development

Bone mineral density in children with non-cystic fibrosis bronchiectasis

Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features

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

Characteristics of Turkish children with Type 2 diabetes at onset: a multicentre, cross-sectional study

Cinacalcet as a First-Line Treatment in Neonatal Severe Hyperparathyroidism Secondary to Calcium Sensing Receptor (CaSR) Mutation

Circulating insulin-like growth factor binding protein-4 (IGFBP-4) is not regulated by parathyroid hormone and vitamin D in vivo: evidence from children with rickets

Clinical Significance of Hypophosphatasemia in Children

Clinical and Laboratory Characteristics of Hyperprolactinemia in Children and Adolescents: National Survey

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

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

Cognitive and psychosocial development in children with familial hypomagnesaemia

Comparison of capillary blood ketone measurement by electrochemical method and urinary ketone in treatment of diabetic ketosis and ketoacidosis in children

Constitutional growth delay pattern of growth in velo-cardio-facial syndrome: longitudinal follow up and final height of two cases

Content analysis of food advertising in Turkish television

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

Current practice in diagnosis and treatment of growth hormone deficiency in childhood: a survey from Turkey

Current research on pycnodysostosis

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

De novo STX16 deletions: an infrequent cause of pseudohypoparathyroidism type Ib that should be excluded in sporadic cases

Deletion of the Noncoding GNAS Antisense Transcript Causes Pseudohypoparathyroidism Type Ib and Biparental Defects of GNAS Methylation in cis.

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

Detection of Y chromosomal material in patients with a 45,X karyotype by PCR method

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

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

Does Genotype-Phenotype Correlation Exist in Vitamin D-Dependent Rickets Type IA: Report of 13 New Cases and Review of the Literature

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

Effect of zinc supplementation on growth hormone secretion, IGF-I, IGFBP-3, somatomedin generation, alkaline phosphatase, osteocalcin and growth in prepubertal children with idiopathic short stature

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

Evaluation and Treatment Results of Ovarian Cysts in Childhood and Adolescence: A Multicenter, Retrospective Study of 100 Patients

Evaluation of diagnosis and treatment results in children with Graves' disease with emphasis on the pubertal status of patients

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

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

Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: evidence for an autosomal recessive form of PHP-Ib?

Exome sequencing of a primary ovarian insufficiency cohort reveals common molecular etiologies for a spectrum of disease

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

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

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

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

GNAS Spectrum of Disorders

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

H syndrome: a multifaceted histiocytic disorder with hyperpigmentation and hypertrichosis

Height, weight, IGF-I, IGFBP-3 and thyroid functions in prepubertal children with attention deficit hyperactivity disorder: effect of methylphenidate treatment

Heterotrimeric G proteins in the control of parathyroid hormone actions

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

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

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

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

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

Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia

Incidence of Type 1 Diabetes in Children Aged Below 18 Years during 2013-2015 in Northwest Turkey

Increased QT dispersion in breath-holding spells

Infantile loss of teeth: odontohypophosphatasia or childhood hypophosphatasia

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

Long-term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutation

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

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

Management of Systemic Hypersensitivity Reactions to Gonadotropin-Releasing Hormone Analogues during Treatment of Central Precocious Puberty

Maternal thyroid dysfunction and neonatal thyroid problems

Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency

Nationwide Hypophosphatemic Rickets Cohort Study

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

Novel homozygous inactivating mutation of the calcium-sensing receptor gene (CASR) in neonatal severe hyperparathyroidism-lack of effect of cinacalcet.

PPP2R3C gene variants cause syndromic 46,XY gonadal dysgenesis and impaired spermatogenesis in humans