Lista de obras - Ian Macdonald - Dominio Público Uruguay

"Is a cure in my sight?" Multi-stakeholder perspectives on phase I choroideremia gene transfer clinical trials

artículo científico publicado en 2013

A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy

artículo científico publicado en 2001

A New Case of Oculoectodermal Syndrome

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies ⬇️

artículo científico publicado en 2009

A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa

artículo científico publicado en 2002

A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders.

artículo científico publicado en 2010

A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness

artículo científico publicado en 2010

A novel SVA retrotransposon insertion in the CHM gene results in loss of REP-1 causing choroideremia

artículo científico publicado en 2020

A novel syndrome of congenital lid and punctal anomalies, corneal and chorioretinal dystrophy

artículo científico publicado en 2003

A retrospective cohort study of radial optic neurotomy for severe central retinal vein occlusions

artículo científico publicado en 2008

Advances in the genetics of eye diseases

artículo científico

An analysis of strabismus reoperations in Northern Alberta, Canada from 1995 to 2015

artículo científico publicado en 2018

An internet-based health survey on the co-morbidities of choroideremia patients

artículo científico publicado en 2013

Bilateral uveitis and Usher syndrome: a case report

artículo científico publicado en 2015

Choroideremia carriers maintain a normal electro-oculogram (EOG).

artículo científico publicado en 2007

Choroideremia gene testing

artículo científico publicado en 2004

Choroideremia research: Report and perspectives on the second international scientific symposium for choroideremia

artículo científico publicado en 2016

Choroideremia: new findings from ocular pathology and review of recent literature

artículo científico publicado en 2009

Choroideremia: towards a therapy

artículo científico publicado en 2013

Choroideremia: variability of clinical and electrophysiological characteristics and first report of a negative electroretinogram

artículo científico publicado en 2006

Clinical and Functional Findings in Choroideremia Due to Complete Deletion of the CHM Gene

article

Cofactor treatment improves ATP synthetic capacity in patients with oxidative phosphorylation disorders

artículo científico publicado en 2004

Combination Treatment with Rituximab and Bortezomib in a Patient with Non-Paraneoplastic Autoimmune Retinopathy

scientific article published on 16 August 2019

Copy number variant analysis in CHM to detect duplications underlying choroideremia

artículo científico publicado en 2012

Decrease in the size of the myotonic dystrophy CTG repeat during transmission from parent to child: implications for genetic counselling and genetic anticipation

artículo científico publicado en 1993

Detection of localized retinal dysfunction in a choroideremia carrier

artículo científico publicado en 2004

Diplopia after Cataract Surgery

artículo científico publicado en 2006

Editorial: Introducing Genetics in Ophthalmology

article

Effect of docosahexaenoic acid supplementation on the macular function of patients with Best vitelliform macular dystrophy: randomized clinical trial

artículo científico publicado en 2010

Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation

artículo científico publicado en 2002

Extraocular muscle hypertrophy in myotonia congenita

artículo científico publicado en 2008

Extraocular muscle hypertrophy in myotonia congenita: Mutation identified in the SCN4A gene (V445M)

article

Eyeing a New Network

artículo científico publicado en 2007

Genetic factors and AMD.

artículo científico publicado en 2011

Genetics of age-related macular degeneration.

artículo científico publicado en 2009

Genomics in the era of molecular ophthalmology: reflections on the National Ophthalmic Disease Genotyping Network (eyeGENE).

artículo científico publicado en 2008

Growth hormone is present in the human retina and vitreous fluid.

artículo científico publicado en 2009

High-resolution images of retinal structure in patients with choroideremia

artículo científico publicado en 2013

High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy

artículo científico publicado en 2011

Inner retina remodeling in a mouse model of stargardt-like macular dystrophy (STGD3).

artículo científico publicado en 2009

Introducing Michael A. Walter, the 2002 Recipient of the Cogan Award

Investigation of the effect of dietary docosahexaenoic acid (DHA) supplementation on macular function in subjects with autosomal recessive Stargardt macular dystrophy

Leber hereditary optic neuropathy, progressive visual loss, and multiple-sclerosis-like symptoms

artículo científico publicado en 2001

Lines of Blaschko and choroideremia.

artículo científico publicado en 2009

Linkage relationships of X-linked choroideremia to DXYS1 and DXS3.

artículo científico publicado en 1987

Loss-of-function mutations in Rab escort protein 1 (REP-1) affect intracellular transport in fibroblasts and monocytes of choroideremia patients

artículo científico publicado en 2009

Macular pigment and lutein supplementation in choroideremia

artículo científico publicado en 2002

Microperimetry in a case of occult macular dystrophy

Mutational analysis of patients with the diagnosis of choroideremia

artículo científico publicado en 2002

Mutations in ASCC3L1 on 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese family

artículo científico publicado en 2009

Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families

artículo científico publicado en 2011

Ocular genetics: current understanding

artículo científico publicado en 2004

Personalized medicine: the translation of genetic knowledge to eye care

Phenotype and genotype of patients with autosomal recessive bestrophinopathy.

artículo científico publicado en 2011

Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: relevance to ocular dysgenesis and hearing impairment

artículo científico publicado en 2004

Preventing blindness in retinal disease: ciliary neurotrophic factor intraocular implants

article published in 2007

Re: Analysis of the Publication Volume of Canadian Ophthalmology Departments from 2005 to 2009: A Systematic Review of the Literature

article

Remodeling of the Human Retina in Choroideremia: Rab Escort Protein 1 (REP-1) Mutations

article

Reply

Retinal degeneration in autoimmune polyglandular syndrome type 1: a case series

artículo científico publicado en 2015

Serum biomarkers and trafficking defects in peripheral tissues reflect the severity of retinopathy in three brothers affected by choroideremia

artículo científico publicado en 2012

Severe retinal degeneration in a patient with Canavan disease

scientific article published on 25 September 2020

Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene

article

Silencing of the CHM gene alters phagocytic and secretory pathways in the retinal pigment epithelium

artículo científico publicado en 2009

Stop Mutations in Exon 6 of the Choroideremia Gene, CHM, Associated With Preservation of the Electroretinogram

article

The functional effect of pathogenic mutations in Rab escort protein 1.

artículo científico publicado en 2009

The need for standardization of antiretinal antibody detection and measurement

artículo científico publicado en 2008

The use of lymphocytes to screen for oxidative phosphorylation disorders

artículo científico publicado en 2003

Use of the polymerase chain reaction for the differential cross screening of libraries cloned into phage-lambda-based vectors.

artículo científico publicado en 1989

Lista de obras de Ian Macdonald

"Is a cure in my sight?" Multi-stakeholder perspectives on phase I choroideremia gene transfer clinical trials

A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy

A New Case of Oculoectodermal Syndrome

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies ⬇️

A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa

A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders.

A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness

A novel SVA retrotransposon insertion in the CHM gene results in loss of REP-1 causing choroideremia

A novel syndrome of congenital lid and punctal anomalies, corneal and chorioretinal dystrophy

A retrospective cohort study of radial optic neurotomy for severe central retinal vein occlusions

Advances in the genetics of eye diseases

An analysis of strabismus reoperations in Northern Alberta, Canada from 1995 to 2015

An internet-based health survey on the co-morbidities of choroideremia patients

Bilateral uveitis and Usher syndrome: a case report

Choroideremia carriers maintain a normal electro-oculogram (EOG).

Choroideremia gene testing

Choroideremia research: Report and perspectives on the second international scientific symposium for choroideremia

Choroideremia: new findings from ocular pathology and review of recent literature

Choroideremia: towards a therapy

Choroideremia: variability of clinical and electrophysiological characteristics and first report of a negative electroretinogram

Clinical and Functional Findings in Choroideremia Due to Complete Deletion of the CHM Gene

Cofactor treatment improves ATP synthetic capacity in patients with oxidative phosphorylation disorders

Combination Treatment with Rituximab and Bortezomib in a Patient with Non-Paraneoplastic Autoimmune Retinopathy

Copy number variant analysis in CHM to detect duplications underlying choroideremia

Decrease in the size of the myotonic dystrophy CTG repeat during transmission from parent to child: implications for genetic counselling and genetic anticipation

Detection of localized retinal dysfunction in a choroideremia carrier

Diplopia after Cataract Surgery

Editorial: Introducing Genetics in Ophthalmology

Effect of docosahexaenoic acid supplementation on the macular function of patients with Best vitelliform macular dystrophy: randomized clinical trial

Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation

Extraocular muscle hypertrophy in myotonia congenita

Extraocular muscle hypertrophy in myotonia congenita: Mutation identified in the SCN4A gene (V445M)

Eyeing a New Network

Genetic factors and AMD.

Genetics of age-related macular degeneration.

Genomics in the era of molecular ophthalmology: reflections on the National Ophthalmic Disease Genotyping Network (eyeGENE).

Growth hormone is present in the human retina and vitreous fluid.

High-resolution images of retinal structure in patients with choroideremia

High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy

Inner retina remodeling in a mouse model of stargardt-like macular dystrophy (STGD3).

Introducing Michael A. Walter, the 2002 Recipient of the Cogan Award

Investigation of the effect of dietary docosahexaenoic acid (DHA) supplementation on macular function in subjects with autosomal recessive Stargardt macular dystrophy

Leber hereditary optic neuropathy, progressive visual loss, and multiple-sclerosis-like symptoms

Lines of Blaschko and choroideremia.

Linkage relationships of X-linked choroideremia to DXYS1 and DXS3.

Loss-of-function mutations in Rab escort protein 1 (REP-1) affect intracellular transport in fibroblasts and monocytes of choroideremia patients

Macular pigment and lutein supplementation in choroideremia

Microperimetry in a case of occult macular dystrophy

Mutational analysis of patients with the diagnosis of choroideremia

Mutations in ASCC3L1 on 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese family

Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families

Ocular genetics: current understanding

Personalized medicine: the translation of genetic knowledge to eye care

Phenotype and genotype of patients with autosomal recessive bestrophinopathy.

Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: relevance to ocular dysgenesis and hearing impairment

Preventing blindness in retinal disease: ciliary neurotrophic factor intraocular implants

Re: Analysis of the Publication Volume of Canadian Ophthalmology Departments from 2005 to 2009: A Systematic Review of the Literature

Remodeling of the Human Retina in Choroideremia: Rab Escort Protein 1 (REP-1) Mutations

Reply

Retinal degeneration in autoimmune polyglandular syndrome type 1: a case series

Serum biomarkers and trafficking defects in peripheral tissues reflect the severity of retinopathy in three brothers affected by choroideremia

Severe retinal degeneration in a patient with Canavan disease

Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene

Silencing of the CHM gene alters phagocytic and secretory pathways in the retinal pigment epithelium

Stop Mutations in Exon 6 of the Choroideremia Gene, CHM, Associated With Preservation of the Electroretinogram

The functional effect of pathogenic mutations in Rab escort protein 1.

The need for standardization of antiretinal antibody detection and measurement

The use of lymphocytes to screen for oxidative phosphorylation disorders

Use of the polymerase chain reaction for the differential cross screening of libraries cloned into phage-lambda-based vectors.