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List of works by Mansoor Sarfarazi

A new locus (GLC1H) for adult-onset primary open-angle glaucoma maps to the 2p15-p16 region

scientific article published on 01 January 2007

Adult-onset primary open-angle glaucoma caused by mutations in optineurin

scientific article (publication date: 8 February 2002)

Analysis of rare variants and common haplotypes in the optineurin gene in Swedish glaucoma cases

scientific article published in June 2005

CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes.

scientific article published in July 2007

Characterization of the biochemical and structural phenotypes of four CYP1B1 mutations observed in individuals with primary congenital glaucoma

scientific article published in August 2008

Clinical features and course of patients with glaucoma with the E50K mutation in the optineurin gene

scientific article published on 01 August 2005

Co-variation of STI1 and WDR36/UTP21 alters cell proliferation in a glaucoma model ⬇️

scientific article published on July 19, 2011

Common Molecular Challenges in Glaucoma

scientific article published in April 2015

Cyp1b1 protein in the mouse eye during development: an immunohistochemical study

scientific article published on 26 February 2007

Defining the pathogenicity of optineurin in juvenile open-angle glaucoma.

scientific article published on September 2004

Embryonic expression of the optineurin (glaucoma) gene in different stages of mouse development.

scientific article published on 27 August 2007

Evaluation of LOXL1 gene polymorphisms in exfoliation syndrome and exfoliation glaucoma

scientific article

Expression of cytochrome P4501b1 (Cyp1b1) during early murine development

scientific article published on 30 August 2004

Expression patterns of mouse and human CYP orthologs (families 1-4) during development and in different adult tissues

scientific article published on 01 April 2005

Genetic screening of leber congenital amaurosis in a large consanguineous Iranian family

scientific article published in December 2007

Genetics and biochemistry of primary congenital glaucoma

scientific article published on December 2003

Genotype and phenotype correlations in congenital glaucoma.

scientific article published on January 2006

Genotype and phenotype correlations in congenital glaucoma: CYP1B1 mutations, goniodysgenesis, and clinical characteristics

scientific article published in September 2006

Genotype-Phenotype Correlations in CYP1B1-Associated Primary Congenital Glaucoma Patients Representing Two Large Cohorts from India and Brazil

scientific article

Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1.

scientific article

LTBP2 gene analysis in the GLC3C-linked family and 94 CYP1B1-negative cases with primary congenital glaucoma

scientific article

Lymphoedema-distichiasis and FOXC2: unreported mutations, de novo mutation estimate, families without coding mutations

scientific article published on 20 May 2005

Metabolism of retinoids and arachidonic acid by human and mouse cytochrome P450 1b1

scientific article

Molecular cloning and expression profiling of optineurin in the rhesus monkey

scientific article published on July 2005

Molecular cloning, genomic structure, and protein characterization of mouse optineurin

scientific journal article

Molecular genetics of primary congenital glaucoma in Brazil

scientific article published on 01 June 2002

Optineurin in primary open angle glaucoma

scientific article (publication date: December 2003)

Practical Genetics

scientific article published in January 1988

Primary non-syndromic lymphoedema (Meige disease) is not caused by mutations in FOXC2

scientific article published on 16 January 2008

Stepwise Differentiation of Retinal Ganglion Cells from Human Pluripotent Stem Cells Enables Analysis of Glaucomatous Neurodegeneration

scientific article

Targeted Screening for Predominant CYP1B1 Mutations in Primary Congenital Glaucoma

scientific article published on 01 October 2018

The role of the WDR36 gene on chromosome 5q22.1 in a large family with primary open-angle glaucoma mapped to this region

scientific article

The use of microarray technology in deciphering the cause of genetic eye diseases: LOXL1 and exfoliation syndrome

scientific article published on 01 March 2008

Xenobiotic-metabolizing cytochromes P450 in ontogeny: evolving perspective

scientific article

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