List of works - Fatih Gürbüz

A Novel Homozygous Mutation in the KCNJ11 Gene of a Neonate with Congenital Hyperinsulinism and Successful Management with Sirolimus

scientific article published on 16 May 2016

An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 (GLIS3)

scientific article published on 05 May 2016

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

CCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal Migration

scientific article published on 25 March 2016

CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism

scientific article published on 23 January 2017

Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis

scientific article published on 18 December 2015

Complete Idiopathic Hypogonadotropic Hypogonadism due to Homozygous GNRH1 Mutations in the Mutational Hot Spots in the Region Encoding the Decapeptide.

scientific article

Crouzonodermoskeletal Syndrome with Hypoplasia of Corpus Callosum and Inferior Vermis

scientific article published on 16 May 2016

Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism

scientific article

Effects of methylphenidate on appetite and growth in children diagnosed with attention deficit and hyperactivity disorder.

scientific article published on 15 August 2015

Efficiency of Single Dose of Tolvaptan Treatment During the Triphasic Episode After Surgery for Craniopharyngioma

scientific article published on 27 September 2018

Epstein-barr virus encephalitis in infancy

scientific article published on March 2014

Etiological evaluation of patients presenting with isolated micropenis to an academic health care center

scientific article published on 05 September 2013

Expanding the Clinical Spectrum Associated With GLIS3 Mutations

scientific article

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

scientific article

Hyperphosphatemic Familial Tumoral Calcinosis in Two Siblings with a Novel Mutation in Gene: Experience from Southern Turkey

article

Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations

scientific article

Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1. ⬇️

scientific article published on 18 April 2016

Inactivating KISS1 mutation and hypogonadotropic hypogonadism

article

Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome

scientific article

MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability

scientific article

Mutations in FEZF1 cause Kallmann syndrome

scientific article

Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: A Pilot Study with 38,935 Infants

scientific article published on 14 August 2018

Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families.

scientific article published on 7 November 2014

Novel inactivating mutations of the DCAF17 gene in American and Turkish families cause male infertility and female subfertility in the mouse model.

scientific article

Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing.

scientific article published on 30 October 2018

Prevalence of ZnT8 Antibody in Turkish Children and Adolescents with New Onset Type 1 Diabetes

scientific article

Relationship between metabolic control and neurocognitive functions in children diagnosed with type I diabetes mellitus before and after 5 years of age.

scientific article published in July 2012

Sertoli cell only syndrome with ambiguous genitalia

scientific article published on 01 July 2016

The Investigation of Plasma Glucagon-like Peptide-1 Levels in Newly Diagnosed Type 1 Diabetic Children.

scientific article published on 3 September 2015

The effect of lifestyle change and metformin therapy on serum arylesterase and paraoxonase activity in obese children

scientific article published on 01 May 2015

The first report of cabergoline-induced immune hemolytic anemia in an adolescent with prolactinoma

scientific article published on 01 January 2014

The novel mutation p.Trp147Arg of the steroidogenic acute regulatory protein causes classic lipoid congenital adrenal hyperplasia with adrenal insufficiency and 46,XY disorder of sex development

scientific article

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

scientific article published on March 2015

Unilateral exudative retinal detachment as the sole presentation of relapsing acute lymphoblastic leukemia

scientific article published on 15 June 2012

Wolcott-Rallison Syndrome with Novel EIF2AK3 Gene Mutation

scientific article published on 4 May 2016

List of works by Fatih Gürbüz

A Novel Homozygous Mutation in the KCNJ11 Gene of a Neonate with Congenital Hyperinsulinism and Successful Management with Sirolimus

An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 (GLIS3)

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

CCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal Migration

CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism

Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis

Complete Idiopathic Hypogonadotropic Hypogonadism due to Homozygous GNRH1 Mutations in the Mutational Hot Spots in the Region Encoding the Decapeptide.

Crouzonodermoskeletal Syndrome with Hypoplasia of Corpus Callosum and Inferior Vermis

Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism

Effects of methylphenidate on appetite and growth in children diagnosed with attention deficit and hyperactivity disorder.

Efficiency of Single Dose of Tolvaptan Treatment During the Triphasic Episode After Surgery for Craniopharyngioma

Epstein-barr virus encephalitis in infancy

Etiological evaluation of patients presenting with isolated micropenis to an academic health care center

Expanding the Clinical Spectrum Associated With GLIS3 Mutations

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

Hyperphosphatemic Familial Tumoral Calcinosis in Two Siblings with a Novel Mutation in Gene: Experience from Southern Turkey

Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations

Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1. ⬇️

Inactivating KISS1 mutation and hypogonadotropic hypogonadism

Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome

MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability

Mutations in FEZF1 cause Kallmann syndrome

Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: A Pilot Study with 38,935 Infants

Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families.

Novel inactivating mutations of the DCAF17 gene in American and Turkish families cause male infertility and female subfertility in the mouse model.

Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing.

Prevalence of ZnT8 Antibody in Turkish Children and Adolescents with New Onset Type 1 Diabetes

Relationship between metabolic control and neurocognitive functions in children diagnosed with type I diabetes mellitus before and after 5 years of age.

Sertoli cell only syndrome with ambiguous genitalia

The Investigation of Plasma Glucagon-like Peptide-1 Levels in Newly Diagnosed Type 1 Diabetic Children.

The effect of lifestyle change and metformin therapy on serum arylesterase and paraoxonase activity in obese children

The first report of cabergoline-induced immune hemolytic anemia in an adolescent with prolactinoma

The novel mutation p.Trp147Arg of the steroidogenic acute regulatory protein causes classic lipoid congenital adrenal hyperplasia with adrenal insufficiency and 46,XY disorder of sex development

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

Unilateral exudative retinal detachment as the sole presentation of relapsing acute lymphoblastic leukemia

Wolcott-Rallison Syndrome with Novel EIF2AK3 Gene Mutation