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Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population

European journal of human genetics : EJHG, 2001-07, Vol.9 (7), p.553-555

2001

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Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis

Human molecular genetics, 2004-10, Vol.13 (20), p.2473-2482

2004

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TAP1 and TAP2 gene polymorphisms in childhood cystic echinococcosis

Parasitology international, 2010-06, Vol.59 (2), p.283-285

2010

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l-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1

Human molecular genetics, 2004-11, Vol.13 (22), p.2803-2811

2004

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Biobanking: sample acquisition and quality assurance for ‘omics’ research

New biotechnology, 2013-03, Vol.30 (3), p.339-342

2013

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Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1

Human molecular genetics, 2002-01, Vol.11 (1), p.107-113

2002

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Genetic testing: predictive value of genotyping for diagnosis and management of disease

The EPMA journal, 2011-06, Vol.2 (2), p.173-179

Özgüç, Meral

2011

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Mutations in CGI-58, the Gene Encoding a New Protein of the Esterase/Lipase/Thioesterase Subfamily, in Chanarin-Dorfman Syndrome

American journal of human genetics, 2001-11, Vol.69 (5), p.1002-1012

2001

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

The EPMA journal, 2016-12, Vol.7 (1), p.24-24, Article 24

2016

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Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis

Turkish journal of pediatrics, 2017, Vol.59 (4), p.475-482

2017

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Mutations of the CFTR gene in Turkish patients with congenital bilateral absence of the vas deferens

Human reproduction (Oxford), 2004-05, Vol.19 (5), p.1094-1100

2004

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Novel mutations of the MLC1 gene in Turkish patients

European journal of medical genetics, 2011-05, Vol.54 (3), p.281-283

2011

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Statin Potentiates Human Platelet eNOS Activity without Enhancing eNOS mRNA and Protein Levels

Cerebrovascular diseases (Basel, Switzerland), 2008-01, Vol.26 (2), p.190-198

2008

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Application of medical genetics in Turkey

Turkish journal of pediatrics, 2007-10, Vol.49 (4), p.353-359

2007

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Interleukin‐10 Gene Transfer: Prevention of Multiple Organ Injury in a Murine Cecal Ligation and Puncture Model of Sepsis

World journal of surgery, 2007-01, Vol.31 (1), p.105-115

2007

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Bioethical Challenges of the Ebola Outbreak

Journal of bioethical inquiry, 2015-06, Vol.12 (2), p.173-175

2015

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Changes in the Expression of Selenoproteins in Mesial Temporal Lobe Epilepsy Patients

Cellular and molecular neurobiology, 2009-12, Vol.29 (8), p.1223-1231

2009

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Deletion analysis in Turkish patients with spinal muscular atrophy

Brain & development (Tokyo. 1979), 1999-03, Vol.21 (2), p.86-89

1999

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Two New Loci for Autosomal Recessive Ichthyosis on Chromosomes 3p21 and 19p12-q12 and Evidence for Further Genetic Heterogeneity

American journal of human genetics, 2000-03, Vol.66 (3), p.904-913

2000

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Expression of matrix metalloproteinases in vasculitic neuropathy

Rheumatology international, 2004-09, Vol.24 (5), p.255-259

2004

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Androgen receptor immunostaining and androgen receptor messenger ribonucleic acid expression are increased in cremaster muscles associated with undescended testis

Urology (Ridgewood, N.J.), 2006-04, Vol.67 (4), p.855-858

2006

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Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients

European journal of human genetics : EJHG, 2003-01, Vol.11 (1), p.102-104

2003

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MEFV gene mutations in familial Mediterranean fever phenotype II patients with renal amyloidosis in childhood: a retrospective clinicopathological and molecular study

Nephrology, dialysis, transplantation, 2002-11, Vol.17 (11), p.1921-1923

2002

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A new book “Rare Diseases: Integrative PPPM Approach as the Medicine of the Future”

The EPMA journal, 2014-02, Vol.5 (Suppl 1), p.1-A16, Article A16

Özgüç, Meral

2014

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Education for all in the era of personalized medicine

The EPMA journal, 2014-02, Vol.5 (Suppl 1), p.1-A139, Article A139

Özgüç, Meral

2014

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Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population

Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis

TAP1 and TAP2 gene polymorphisms in childhood cystic echinococcosis

l-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1

Biobanking: sample acquisition and quality assurance for ‘omics’ research

Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1

Genetic testing: predictive value of genotyping for diagnosis and management of disease

Mutations in CGI-58, the Gene Encoding a New Protein of the Esterase/Lipase/Thioesterase Subfamily, in Chanarin-Dorfman Syndrome

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

Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis

Mutations of the CFTR gene in Turkish patients with congenital bilateral absence of the vas deferens

Novel mutations of the MLC1 gene in Turkish patients

Statin Potentiates Human Platelet eNOS Activity without Enhancing eNOS mRNA and Protein Levels

Application of medical genetics in Turkey

Interleukin‐10 Gene Transfer: Prevention of Multiple Organ Injury in a Murine Cecal Ligation and Puncture Model of Sepsis

Bioethical Challenges of the Ebola Outbreak

Changes in the Expression of Selenoproteins in Mesial Temporal Lobe Epilepsy Patients

Deletion analysis in Turkish patients with spinal muscular atrophy

Two New Loci for Autosomal Recessive Ichthyosis on Chromosomes 3p21 and 19p12-q12 and Evidence for Further Genetic Heterogeneity

Expression of matrix metalloproteinases in vasculitic neuropathy

Androgen receptor immunostaining and androgen receptor messenger ribonucleic acid expression are increased in cremaster muscles associated with undescended testis

Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients

MEFV gene mutations in familial Mediterranean fever phenotype II patients with renal amyloidosis in childhood: a retrospective clinicopathological and molecular study

A new book “Rare Diseases: Integrative PPPM Approach as the Medicine of the Future”

Education for all in the era of personalized medicine

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