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List of works by Bilgin Yüksel

A Novel Frameshift Mutation in ESCO2 Gene in Roberts Syndrome.

scientific article published in May 2018

A case of ambiguous genitalia with unilateral amelia and unilateral peromelia of the upper limbs.

scientific article

A homozygous recurring mutation in WISP3 causing progressive pseudorheumatoid arthropathy.

scientific article published on January 2011

A prospective study of cow's milk allergy in Turkish infants

scientific article published on 01 November 1995

Ambulatory blood pressure monitoring and serum nitric oxide concentration in type 1 diabetic children

scientific article published on 18 February 2009

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

Bone calcium changes during diabetic ketoacidosis: a comparison with lactic acidosis due to volume depletion.

scientific article published in July 2005

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

Chromium levels in healthy and newly diagnosed type 1 diabetic children

scientific article published on 09 October 2012

Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis

scientific article published on 18 December 2015

Coexistence of common variable immunodeficiency and autoimmune polyglandular syndrome type 2

scientific article published on 01 May 2001

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

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

scientific article published on March 2015

Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism

scientific article

Do parental smoking and history of allergy influence cord-serum IgE?

scientific article published on 01 November 1995

Early onset of diabetic nephropathy in a child with type 1 diabetes mellitus

scientific article published on 01 January 2003

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

Epidemiology of meningococcal infections in children in mid-southern part of Turkey.

scientific article published in August 1995

Evaluation of Permanent Growth Hormone Deficiency (GHD) in Young Adults with Childhood Onset GHD: A multicenter study ⬇️

scientific article published on August 5, 2008

Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: phenotypic variability and founder effect.

scientific article

Fucosidosis with hypothyroidism: a case report.

scientific article published in April 2004

Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey

scientific article published in January 2016

Growth and development of 280 hypothyroidic patients at diagnosis

scientific article published on 01 April 1995

Growth hormone and insulin-like growth factor 1 levels and their relation to survival in children with bacterial sepsis and septic shock.

scientific article published in April 2004

Hashimoto's encephalopathy: four cases and review of literature.

scientific article published on 02 October 2013

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

Idiopathic hyperphosphatasia and TNFRSF11B mutations: relationships between phenotype and genotype.

scientific article published on December 2003

Impaired glucose tolerance in Fanconi-Bickel syndrome: Eight patients with two novel mutations

scientific article

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

Low serum adiponectin levels in children and adolescents with diabetic retinopathy

scientific article

Molecular Genetic Analysis of Normosmic Hypogonadotropic Hypogonadism in a Turkish Population: Identification and Detailed Functional Characterization of a Novel Mutation in the Gonadotropin-Releasing Hormone Receptor Gene

article

Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency: a multicenter study.

scientific article published on 11 December 2014

Molecular genetic studies in a case series of isolated hypoaldosteronism due to biosynthesis defects or aldosterone resistance

scientific article published on 27 March 2018

Mutations in FEZF1 cause Kallmann syndrome

scientific article

Neurokinin B signalling in human puberty.

scientific article published on 29 April 2010

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 growth hormone receptor gene mutation in a patient with Laron syndrome.

scientific article published in April 2010

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

scientific article published on 30 October 2018

Pulmonary hypertension, heart failure and neutropenia due to diazoxide therapy.

scientific article published in May 2008

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

scientific article

Response to growth hormone with respect to pubertal status on increased dose in idiopathic growth hormone deficiency: an analysis of Turkish children in the KIGS database (Pfizer International Growth Study).

scientific article published in October 2005

Sertoli cell only syndrome with ambiguous genitalia

scientific article published on 01 July 2016

Serum IL-1, IL-2, TNFalpha and INFgamma levels of patients with type 1 diabetes mellitus and their siblings

scientific article published on 01 February 2003

Suprasellar tuberculoma causing endocrinologic disorders and imitating craniopharyngioma

scientific article published on 01 January 1995

TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction

scientific article

Testicular adrenal rest hyperplasia due to 21-hydroxylase deficiency: a case report

scientific article published on 01 January 2006

The Authors' Reply: In systemic pseudohypoaldosteronism type 1 skin manifestations are not rare and the disease is not transient

scientific article published on 03 June 2018

Thyroid peroxidase gene mutations causing congenital hypothyroidism in three Turkish families

scientific article published on 01 November 2009

Tuberculous meningitis in children

scientific article published on 01 October 1994

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

scientific article published on March 2015

Urinary N-acetyl-beta-D-glucosaminidase activity in type I diabetes mellitus

scientific article published on 01 May 2003

Vitamin D Deficiency in Obsessive-Compulsive Disorder Patients with Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections: A Case Control Study.

scientific article published on March 2016

Wolcott-Rallison Syndrome with Novel EIF2AK3 Gene Mutation

scientific article published on 4 May 2016

Wolcott-Rallison syndrome due to the same mutation (W522X) in EIF2AK3 in two unrelated families and review of the literature.

scientific article published on 25 February 2010

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