List of works - Fatih Ozaltin

A homozygous HOXA11 variation as a potential novel cause of autosomal recessive CAKUT

scientific article published on 14 July 2020

An immunohistochemical approach to detect oncogenic CTNNB1 mutations in primary neoplastic tissues

scientific article published on 03 September 2018

DGKE Variants Cause a Glomerular Microangiopathy That Mimics Membranoproliferative GN ⬇️

scientific article published on December 28, 2012

Epidermolysis Bullosa with Pyloric Atresia and Aplasia Cutis in a Newborn Due to Homozygous Mutation in ITGB4.

scientific article published on 30 May 2017

Follow-up results of patients with ADCK4 mutations and the efficacy of CoQ10 treatment.

scientific article published on 24 March 2017

Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet-ESPN inherited glomerulopathy working group

scientific article published on 28 May 2020

Genetic screening in adolescents with steroid-resistant nephrotic syndrome

scientific article

Hearing Loss Related to Gene Mutations in Distal Renal Tubular Acidosis

scientific article published in 2023

Hematological features of pediatric systemic lupus erythematosus: suggesting management strategies in children ⬇️

scientific article published on April 11, 2012

Mutations in EMP2 cause childhood-onset nephrotic syndrome

scientific article

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

scientific article published on 14 August 2017

Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome

scientific journal article

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

scientific article

Primary coenzyme Q10 (CoQ10) deficiencies and related nephropathies ⬇️

scientific article published on 05 June 2013

Relationship of leptin and insulin-like growth factor I to nutritional status in hemodialyzed children ⬇️

scientific article published on October 30, 2003

Renal Biopsy Prognostic Findings in Children With Atypical Hemolytic Uremic Syndrome

scientific article published on 14 May 2020

Serum IgD Concentrations in Patients with Ataxia Telangiectasia and with Selective IgA Deficiency ⬇️

scientific article published on July 1, 1998

Successful renal transplantation in a child with ANCA-associated microscopic polyangiitis ⬇️

scientific article published on May 13, 2003

Surgical management of renovascular hypertension in children and young adults: a 13-year experience

scientific article published on 01 November 2019

The role of apoptosis in childhood Henoch?Schonlein purpura ⬇️

scientific article published on 01 October 2003

Transplantation in pediatric aHUS within the era of eculizumab therapy

scientific article published on 20 November 2020

Turkish pediatric atypical hemolytic uremic syndrome registry: initial analysis of 146 patients

scientific article

Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity

scientific article

List of works by Fatih Ozaltin

A homozygous HOXA11 variation as a potential novel cause of autosomal recessive CAKUT

An immunohistochemical approach to detect oncogenic CTNNB1 mutations in primary neoplastic tissues

DGKE Variants Cause a Glomerular Microangiopathy That Mimics Membranoproliferative GN ⬇️

Epidermolysis Bullosa with Pyloric Atresia and Aplasia Cutis in a Newborn Due to Homozygous Mutation in ITGB4.

Follow-up results of patients with ADCK4 mutations and the efficacy of CoQ10 treatment.

Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet-ESPN inherited glomerulopathy working group

Genetic screening in adolescents with steroid-resistant nephrotic syndrome

Hearing Loss Related to Gene Mutations in Distal Renal Tubular Acidosis

Hematological features of pediatric systemic lupus erythematosus: suggesting management strategies in children ⬇️

Mutations in EMP2 cause childhood-onset nephrotic syndrome

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

Primary coenzyme Q10 (CoQ10) deficiencies and related nephropathies ⬇️

Relationship of leptin and insulin-like growth factor I to nutritional status in hemodialyzed children ⬇️

Renal Biopsy Prognostic Findings in Children With Atypical Hemolytic Uremic Syndrome

Serum IgD Concentrations in Patients with Ataxia Telangiectasia and with Selective IgA Deficiency ⬇️

Successful renal transplantation in a child with ANCA-associated microscopic polyangiitis ⬇️

Surgical management of renovascular hypertension in children and young adults: a 13-year experience

The role of apoptosis in childhood Henoch?Schonlein purpura ⬇️

Transplantation in pediatric aHUS within the era of eculizumab therapy

Turkish pediatric atypical hemolytic uremic syndrome registry: initial analysis of 146 patients

Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity