Lista de obras - Forbes Manson - Dominio Público Uruguay

A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)

artículo científico publicado en 1996

ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing.

artículo científico publicado en 2008

Biallelic mutation of BEST1 causes a distinct retinopathy in humans

artículo científico publicado en 2008

Brittle cornea syndrome: recognition, molecular diagnosis and management

artículo científico publicado en 2013

Cerebellar hypoplasia and Cohen syndrome: A confirmed association

scientific article published on 01 September 2010

Childhood-Onset Autosomal Recessive Bestrophinopathy

scientific article published on 01 August 2011

De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy.

artículo científico publicado en 2007

Delineation of Cohen syndrome following a large-scale genotype-phenotype screen

artículo científico publicado en 2004

Development of allele-specific gene-silencing siRNAs for TGFBI Arg124Cys in lattice corneal dystrophy type I.

artículo científico publicado en 2014

Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71

artículo científico publicado en 2010

Disease-causing mutations associated with four bestrophinopathies exhibit disparate effects on the localization, but not the oligomerization, of Bestrophin-1.

artículo científico publicado en 2014

Evidence of genetic heterogeneity in MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome.

artículo científico publicado en 2006

Focus on Molecules: Lens intrinsic membrane protein (LIM2/MP20)

artículo científico publicado en 2011

Functional Characterization of Bestrophin-1 Missense Mutations Associated with Autosomal Recessive Bestrophinopathy

artículo científico publicado en 2011

Identification of a Novel Locus for Autosomal Dominant Primary Open Angle Glaucoma on 4q35.1-q35.2

artículo científico publicado en 2011

Identification of a novel gene, ETX1 from Xp21.1, a candidate gene for X-linked retintis pigmentosa (RP3).

artículo científico publicado en 1995

Inherited eye disease: cause and late effect.

artículo científico publicado en 2005

Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa

artículo científico publicado en 2006

Mutation to glutamine of histidine 373, the catalytic base of flavocytochrome b2 (L-lactate dehydrogenase)

scientific article published on 01 January 1995

Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance.

artículo científico publicado en 2011

RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin

artículo científico publicado en 2005

RPGR-associated retinal degeneration in human X-linked RP and a murine model

artículo científico publicado en 2012

Restoration of mutant bestrophin-1 expression, localisation and function in a polarised epithelial cell model

artículo científico publicado en 2016

Substitution of a haem-iron axial ligand in flavocytochrome b2.

artículo científico publicado en 1993

The cataract-associated protein TMEM114, and TMEM235, are glycosylated transmembrane proteins that are distinct from claudin family members ⬇️

artículo científico publicado el 16 de junio de 2011

The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase

artículo científico publicado en 1999

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.

artículo científico publicado en 2013

Lista de obras de Forbes Manson

A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)

ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing.

Biallelic mutation of BEST1 causes a distinct retinopathy in humans

Brittle cornea syndrome: recognition, molecular diagnosis and management

Cerebellar hypoplasia and Cohen syndrome: A confirmed association

Childhood-Onset Autosomal Recessive Bestrophinopathy

De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy.

Delineation of Cohen syndrome following a large-scale genotype-phenotype screen

Development of allele-specific gene-silencing siRNAs for TGFBI Arg124Cys in lattice corneal dystrophy type I.

Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71

Disease-causing mutations associated with four bestrophinopathies exhibit disparate effects on the localization, but not the oligomerization, of Bestrophin-1.

Evidence of genetic heterogeneity in MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome.

Focus on Molecules: Lens intrinsic membrane protein (LIM2/MP20)

Functional Characterization of Bestrophin-1 Missense Mutations Associated with Autosomal Recessive Bestrophinopathy

Identification of a Novel Locus for Autosomal Dominant Primary Open Angle Glaucoma on 4q35.1-q35.2

Identification of a novel gene, ETX1 from Xp21.1, a candidate gene for X-linked retintis pigmentosa (RP3).

Inherited eye disease: cause and late effect.

Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa

Mutation to glutamine of histidine 373, the catalytic base of flavocytochrome b2 (L-lactate dehydrogenase)

Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance.

RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin

RPGR-associated retinal degeneration in human X-linked RP and a murine model

Restoration of mutant bestrophin-1 expression, localisation and function in a polarised epithelial cell model

Substitution of a haem-iron axial ligand in flavocytochrome b2.

The cataract-associated protein TMEM114, and TMEM235, are glycosylated transmembrane proteins that are distinct from claudin family members ⬇️

The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.