List of works - Riza Koksal Ozgul

A New Chapter for Mesenchymal Stem Cells: Decellularized Extracellular Matrices.

scientific article published in August 2017

A patient with mitochondrial disorder due to a novel mutation in MRPS22.

scientific article

A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutation

scientific article published on 19 August 2016

Allergy-specific Phenome-Wide Association Study for Immunogenes in Turkish Children

scientific article published on 14 September 2016

Association of CFH Y402H Polymorphism with Both Forms of Advanced Age-Related Macular Degeneration in Turkish Patients

scientific article published on 09 April 2012

Association of polymorphisms in APOE, p53, and p21 with primary open-angle glaucoma in Turkish patients

scientific article published on 30 June 2009

Association of the Asn306Ser variant of the SP4 transcription factor and an intronic variant in the beta-subunit of transducin with digenic disease

scientific article

Atypical presentation and a novel mutation in ALMS1: implications for clinical and molecular diagnostic strategies for Alström syndrome.

scientific article published on 25 April 2012

Characterization of human bone marrow niches with metabolome and transcriptome profiling

scientific article published in 2021

Cobalamin C defect: a patient of late-onset type with homozygous p.R132* mutation

scientific article published in November 2013

Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening.

scientific article

Discovery of biomarkers in rare diseases: innovative approaches by predictive and personalized medicine

scientific article

Dursun Syndrome Due to G6PC3 Gene Defect has a Fluctuating Pattern in All Blood Cell Lines

article

Erratum: The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey

article

Evaluation and identification of IDUA gene mutations in Turkishpatients with mucopolysaccharidosis type I

article

Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.

scientific article

Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a probable new familial syndrome with multisystem involvement

scientific article published on 01 January 2009

Further clinical and genetic characterization of SPG11: hereditary spastic paraplegia with thin corpus callosum.

scientific article published in April 2006

Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations.

scientific article published on 8 August 2013

Genome-Wide Homozygosity Mapping in Families with Leber Congenital Amaurosis Identifies Mutations in AIPL1 and RDH12 Genes

article

Genotypic-phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey

scientific article published on 08 September 2017

Haplotype analysis of non-HLA immunogenetic loci in Turkish and worldwide populations

scientific article

High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probands.

scientific article published on 6 November 2013

Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia

scientific article published on 12 May 2016

Identification of a Novel Twinkle Mutation in a Family With Infantile Onset Spinocerebellar Ataxia by Whole Exome Sequencing ⬇️

scientific article published on March 1, 2012

Identification of mutations and evaluation of cardiomyopathy in Turkish patients with primary carnitine deficiency.

scientific article published on 22 September 2011

Isovaleric acidemia presenting as diabetic ketoacidosis: a case report

scientific article published on January 2014

MCP12518 A/G polymorphism affects progression of childhood focal segmental glomerulosclerosis

scientific article published on 03 September 2015

Microarray based mutational analysis of patients with methylmalonic acidemia: identification of 10 novel mutations.

scientific article

Molecular analysis and long-term clinical evaluation of three siblings with Alström syndrome.

scientific article published in October 2007

Molecular and clinical evaluation of Turkish patients with lysinuric protein intolerance.

scientific article published on 28 March 2013

Mutations in the G6PC3 gene cause Dursun syndrome.

scientific article

Myocilin mt1 promoter polymorphism in Turkish patients with primary open angle glaucoma

scientific article published on 02 November 2005

Novel Alu retrotransposon insertion leading to Alström syndrome

scientific article published on 30 August 2011

Novel and prevalent CYP11B1 gene mutations in Turkish patients with 11-β hydroxylase deficiency

scientific article published on 5 March 2016

Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia

scientific article published on 08 September 2014

Polymorphisms in FAS and CASP8 genes may contribute to the development of ALPS phenotype: a study in 25 patients with probable ALPS

Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey

scientific article

Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features.

scientific article published on 11 November 2014

Sapropterin dihydrochloride treatment in Turkish hyperphenylalaninemic patients under age four

scientific article

The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey

scientific article

Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation

scientific article

List of works by Riza Koksal Ozgul

A New Chapter for Mesenchymal Stem Cells: Decellularized Extracellular Matrices.

A patient with mitochondrial disorder due to a novel mutation in MRPS22.

A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutation

Allergy-specific Phenome-Wide Association Study for Immunogenes in Turkish Children

Association of CFH Y402H Polymorphism with Both Forms of Advanced Age-Related Macular Degeneration in Turkish Patients

Association of polymorphisms in APOE, p53, and p21 with primary open-angle glaucoma in Turkish patients

Association of the Asn306Ser variant of the SP4 transcription factor and an intronic variant in the beta-subunit of transducin with digenic disease

Atypical presentation and a novel mutation in ALMS1: implications for clinical and molecular diagnostic strategies for Alström syndrome.

Characterization of human bone marrow niches with metabolome and transcriptome profiling

Cobalamin C defect: a patient of late-onset type with homozygous p.R132* mutation

Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening.

Discovery of biomarkers in rare diseases: innovative approaches by predictive and personalized medicine

Dursun Syndrome Due to G6PC3 Gene Defect has a Fluctuating Pattern in All Blood Cell Lines

Erratum: The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey

Evaluation and identification of IDUA gene mutations in Turkishpatients with mucopolysaccharidosis type I

Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.

Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a probable new familial syndrome with multisystem involvement

Further clinical and genetic characterization of SPG11: hereditary spastic paraplegia with thin corpus callosum.

Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations.

Genome-Wide Homozygosity Mapping in Families with Leber Congenital Amaurosis Identifies Mutations in AIPL1 and RDH12 Genes

Genotypic-phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey

Haplotype analysis of non-HLA immunogenetic loci in Turkish and worldwide populations

High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probands.

Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia

Identification of a Novel Twinkle Mutation in a Family With Infantile Onset Spinocerebellar Ataxia by Whole Exome Sequencing ⬇️

Identification of mutations and evaluation of cardiomyopathy in Turkish patients with primary carnitine deficiency.

Isovaleric acidemia presenting as diabetic ketoacidosis: a case report

MCP12518 A/G polymorphism affects progression of childhood focal segmental glomerulosclerosis

Microarray based mutational analysis of patients with methylmalonic acidemia: identification of 10 novel mutations.

Molecular analysis and long-term clinical evaluation of three siblings with Alström syndrome.

Molecular and clinical evaluation of Turkish patients with lysinuric protein intolerance.

Mutations in the G6PC3 gene cause Dursun syndrome.

Myocilin mt1 promoter polymorphism in Turkish patients with primary open angle glaucoma

Novel Alu retrotransposon insertion leading to Alström syndrome

Novel and prevalent CYP11B1 gene mutations in Turkish patients with 11-β hydroxylase deficiency

Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia

Polymorphisms in FAS and CASP8 genes may contribute to the development of ALPS phenotype: a study in 25 patients with probable ALPS

Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey

Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features.

Sapropterin dihydrochloride treatment in Turkish hyperphenylalaninemic patients under age four

The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey

Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation