Lista de obras - Arlene Drack - Dominio Público Uruguay

A 2 base bair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea

article

A comparison of grating visual acuity, strabismus, and reoperation outcomes among children with aphakia and pseudophakia after unilateral cataract surgery during the first six months of life

scientific article published on 01 April 2001

A curved, hinged ruler for measurement along the globe

artículo científico publicado en 1992

A family with branchio-oculo-facial syndrome with primarily ocular involvement associated with mutation of the TFAP2A gene.

artículo científico publicado en 2011

A novel c.1135_1138delCTGT mutation in CLN3 leads to juvenile neuronal ceroid lipofuscinosis.

artículo científico publicado en 2013

A novel mutation in ACTG1 causing Baraitser-Winter syndrome with extremely variable expressivity in three generations.

artículo científico publicado en 2016

Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet-Biedl syndrome.

artículo científico publicado en 2015

Anterior hyaloid face opacification after pediatric Nd:YAG laser capsulotomy.

artículo científico publicado en 1999

Author reply: To PMID 22944025

scientific article published on 01 October 2013

Avoidance and treatment of retinopathy of prematurity.

artículo científico publicado en 2000

BBS mutations modify phenotypic expression of CEP290-related ciliopathies

artículo científico publicado en 2014

Balloon dilatation for treatment of resistant nasolacrimal duct obstruction

artículo científico publicado en 1997

Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene

artículo científico publicado en 1993

CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype.

artículo científico publicado en 2014

CRISPR-Cas9 genome engineering: Treating inherited retinal degeneration.

artículo científico publicado en 2018

Cadherin 5 is regulated by corticosteroids and associated with central serous chorioretinopathy

artículo científico publicado en 2014

Cataract and glaucoma development in juvenile neuronal ceroid lipofuscinosis (batten disease).

artículo científico publicado en 2014

Clinical albinism score, presence of nystagmus and optic nerves defects are correlated with visual outcome in patients with oculocutaneous albinism

artículo científico publicado en 2021

Clinical and genetic analysis of a family with X-linked congenital nystagmus (NYS1)

scientific article published on 01 December 2001

Complement activation and choriocapillaris loss in early AMD: implications for pathophysiology and therapy.

artículo científico publicado en 2014

Compliance with safety glasses wear in monocular children

scientific article published on 01 March 1994

Correlation between electroretinography, foveal anatomy and visual acuity in albinism

artículo científico publicado en 2019

Different fate of antibodies to surface IgM and IgD in germinal centre cell-associated lymphomas

artículo científico publicado en 1984

Ectopic expression of human BBS4 can rescue Bardet-Biedl syndrome phenotypes in Bbs4 null mice

artículo científico publicado en 2013

Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect

scientific article published on 17 December 2018

Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial.

artículo científico

Efficacy of phosphodiesterase-4 inhibitors in juvenile Batten disease (CLN3).

artículo científico publicado en 2016

Efficacy of topical brinzolamide in children with retinal dystrophies

scientific article published on 01 August 2019

Expanded retinal disease spectrum associated with autosomal recessive mutations in GUCY2D.

artículo científico publicado en 2018

From the laboratory to the clinic: molecular genetic testing in pediatric ophthalmology

artículo científico publicado en 2010

Gene Therapy for Blinding Pediatric Eye Disorders.

artículo científico

Genetic linkage of familial open angle glaucoma to chromosome 1q21–q31

artículo científico publicado en 1993

Genotype-phenotype analysis of the branchio-oculo-facial syndrome

artículo científico publicado en 2011

Heterochromia after pediatric cataract surgery

scientific article published on 01 February 2000

Immunosuppressive Treatment for Retinal Degeneration in Juvenile Neuronal Ceroid Lipofuscinosis (Juvenile Batten Disease)

artículo científico publicado en 2014

Improved ocular alignment with adjustable sutures in adults undergoing strabismus surgery.

artículo científico publicado en 2011

Induction of maturation of human B-cell lymphomas in vitro. Morphologic changes in relation to immunoglobulin and DNA synthesis.

artículo científico publicado en 1984

Infantile cataracts

scientific article published on 01 May 1996

Is age-related macular degeneration a microvascular disease?

artículo científico

Long-term surgical and visual outcomes in primary congenital glaucoma: 360 degrees trabeculotomy versus goniotomy

scientific article published on 01 August 2000

Longitudinal changes in the refractive errors of children with tears in Descemet's membrane following forceps injuries.

artículo científico publicado en 2004

Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness

artículo científico publicado en 2000

Mutations in the RNA granule component TDRD7 cause cataract and glaucoma

artículo científico publicado en 2011

Ophthalmic manifestations of Danon disease

artículo científico publicado en 2006

Ophthalmologic complications in children with chronic hepatitis C treated with pegylated interferon

artículo científico publicado en 2010

Optic nerve abnormalities in children: a practical approach

artículo científico publicado en 2011

Optic nerve hypoplasia: absence of posterior pituitary bright signal on magnetic resonance imaging correlates with diabetes insipidus.

artículo científico publicado en 1996

Patient-specific iPSC-derived photoreceptor precursor cells as a means to investigate retinitis pigmentosa

artículo científico publicado en 2013

Patient-specific induced pluripotent stem cells (iPSCs) for the study and treatment of retinal degenerative diseases

artículo científico publicado en 2014

Presentation of TRPM1-Associated Congenital Stationary Night Blindness in Children.

artículo científico publicado en 2018

Prevalence and characteristics of abnormal head posture in children with Down syndrome: a 20-year retrospective, descriptive review.

artículo científico publicado en 2011

Preventing blindness in premature infants.

artículo científico publicado en 1998

Progression of retinopathy in olivopontocerebellar atrophy with retinal degeneration

artículo científico publicado el 1 de mayo de 1992

RNA interference-based therapy for spinocerebellar ataxia type 7 retinal degeneration.

artículo científico publicado en 2014

Recommendations for Genetic Testing of Inherited Eye Diseases

artículo científico publicado en 2012

Refractive surgery for unilateral high myopia in children.

artículo científico publicado en 2001

Refractive surgery in children.

artículo científico publicado en 2001

Retinopathy of prematurity

scientific article published on 01 January 2006

Strabismus and mitochondrial defects in chronic progressive external ophthalmoplegia

scientific article published on 01 February 1997

Strabismus surgery in patients receiving warfarin anticoagulation

artículo científico publicado en 2014

Subretinal gene therapy of mice with Bardet-Biedl syndrome type 1.

artículo científico publicado en 2013

Survey of practice patterns for the management of ophthalmic genetic disorders among AAPOS members: report by the AAPOS Genetic Eye Disease Task Force

scientific article published on 21 June 2019

TRIP8b is required for maximal expression of HCN1 in the mouse retina

artículo científico publicado en 2014

TUDCA slows retinal degeneration in two different mouse models of retinitis pigmentosa and prevents obesity in Bardet-Biedl syndrome type 1 mice

artículo científico publicado en 2012

The clinical evaluation of infantile nystagmus: What to do first and why.

artículo científico publicado en 2017

The role of light toxicity in retinopathy of prematurity and congenital cataract

artículo científico publicado en 1994

Transcriptomic analysis across nasal, temporal, and macular regions of human neural retina and RPE/choroid by RNA-Seq

artículo científico publicado en 2014

Transient lens changes after diode laser retinal photoablation for retinopathy of prematurity

scientific article published on 01 October 1994

Transient punctate lenticular opacities as a complication of argon laser photoablation in an infant with retinopathy of prematurity

artículo científico publicado en 1992

Using Patient-Specific Induced Pluripotent Stem Cells and Wild-Type Mice to Develop a Gene Augmentation-Based Strategy to Treat CLN3-Associated Retinal Degeneration

artículo científico publicado en 2016

Visual acuity changes in patients with leber congenital amaurosis and mutations in CEP290

artículo científico publicado en 2013

Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa

artículo científico publicado en 2010

Vitritis in pediatric genetic retinal disorders

artículo científico publicado en 2014

What I learned from Irene Hussels Maumenee.

artículo científico publicado en 2017

Which Leber congenital amaurosis patients are eligible for gene therapy trials?

artículo científico publicado en 2009

Wide-Field Swept-Source OCT and Angiography in X-Linked Retinoschisis

scientific article published on 19 September 2018

α2δ-4 Is Required for the Molecular and Structural Organization of Rod and Cone Photoreceptor Synapses.

artículo científico publicado en 2018

Lista de obras de Arlene Drack

A 2 base bair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea

A comparison of grating visual acuity, strabismus, and reoperation outcomes among children with aphakia and pseudophakia after unilateral cataract surgery during the first six months of life

A curved, hinged ruler for measurement along the globe

A family with branchio-oculo-facial syndrome with primarily ocular involvement associated with mutation of the TFAP2A gene.

A novel c.1135_1138delCTGT mutation in CLN3 leads to juvenile neuronal ceroid lipofuscinosis.

A novel mutation in ACTG1 causing Baraitser-Winter syndrome with extremely variable expressivity in three generations.

Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet-Biedl syndrome.

Anterior hyaloid face opacification after pediatric Nd:YAG laser capsulotomy.

Author reply: To PMID 22944025

Avoidance and treatment of retinopathy of prematurity.

BBS mutations modify phenotypic expression of CEP290-related ciliopathies

Balloon dilatation for treatment of resistant nasolacrimal duct obstruction

Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene

CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype.

CRISPR-Cas9 genome engineering: Treating inherited retinal degeneration.

Cadherin 5 is regulated by corticosteroids and associated with central serous chorioretinopathy

Cataract and glaucoma development in juvenile neuronal ceroid lipofuscinosis (batten disease).

Clinical albinism score, presence of nystagmus and optic nerves defects are correlated with visual outcome in patients with oculocutaneous albinism

Clinical and genetic analysis of a family with X-linked congenital nystagmus (NYS1)

Complement activation and choriocapillaris loss in early AMD: implications for pathophysiology and therapy.

Compliance with safety glasses wear in monocular children

Correlation between electroretinography, foveal anatomy and visual acuity in albinism

Different fate of antibodies to surface IgM and IgD in germinal centre cell-associated lymphomas

Ectopic expression of human BBS4 can rescue Bardet-Biedl syndrome phenotypes in Bbs4 null mice

Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect

Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial.

Efficacy of phosphodiesterase-4 inhibitors in juvenile Batten disease (CLN3).

Efficacy of topical brinzolamide in children with retinal dystrophies

Expanded retinal disease spectrum associated with autosomal recessive mutations in GUCY2D.

From the laboratory to the clinic: molecular genetic testing in pediatric ophthalmology

Gene Therapy for Blinding Pediatric Eye Disorders.

Genetic linkage of familial open angle glaucoma to chromosome 1q21–q31

Genotype-phenotype analysis of the branchio-oculo-facial syndrome

Heterochromia after pediatric cataract surgery

Immunosuppressive Treatment for Retinal Degeneration in Juvenile Neuronal Ceroid Lipofuscinosis (Juvenile Batten Disease)

Improved ocular alignment with adjustable sutures in adults undergoing strabismus surgery.

Induction of maturation of human B-cell lymphomas in vitro. Morphologic changes in relation to immunoglobulin and DNA synthesis.

Infantile cataracts

Is age-related macular degeneration a microvascular disease?

Long-term surgical and visual outcomes in primary congenital glaucoma: 360 degrees trabeculotomy versus goniotomy

Longitudinal changes in the refractive errors of children with tears in Descemet's membrane following forceps injuries.

Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness

Mutations in the RNA granule component TDRD7 cause cataract and glaucoma

Ophthalmic manifestations of Danon disease

Ophthalmologic complications in children with chronic hepatitis C treated with pegylated interferon

Optic nerve abnormalities in children: a practical approach

Optic nerve hypoplasia: absence of posterior pituitary bright signal on magnetic resonance imaging correlates with diabetes insipidus.

Patient-specific iPSC-derived photoreceptor precursor cells as a means to investigate retinitis pigmentosa

Patient-specific induced pluripotent stem cells (iPSCs) for the study and treatment of retinal degenerative diseases

Presentation of TRPM1-Associated Congenital Stationary Night Blindness in Children.

Prevalence and characteristics of abnormal head posture in children with Down syndrome: a 20-year retrospective, descriptive review.

Preventing blindness in premature infants.

Progression of retinopathy in olivopontocerebellar atrophy with retinal degeneration

RNA interference-based therapy for spinocerebellar ataxia type 7 retinal degeneration.

Recommendations for Genetic Testing of Inherited Eye Diseases

Refractive surgery for unilateral high myopia in children.

Refractive surgery in children.

Retinopathy of prematurity

Strabismus and mitochondrial defects in chronic progressive external ophthalmoplegia

Strabismus surgery in patients receiving warfarin anticoagulation

Subretinal gene therapy of mice with Bardet-Biedl syndrome type 1.

Survey of practice patterns for the management of ophthalmic genetic disorders among AAPOS members: report by the AAPOS Genetic Eye Disease Task Force

TRIP8b is required for maximal expression of HCN1 in the mouse retina

TUDCA slows retinal degeneration in two different mouse models of retinitis pigmentosa and prevents obesity in Bardet-Biedl syndrome type 1 mice

The clinical evaluation of infantile nystagmus: What to do first and why.

The role of light toxicity in retinopathy of prematurity and congenital cataract

Transcriptomic analysis across nasal, temporal, and macular regions of human neural retina and RPE/choroid by RNA-Seq

Transient lens changes after diode laser retinal photoablation for retinopathy of prematurity

Transient punctate lenticular opacities as a complication of argon laser photoablation in an infant with retinopathy of prematurity

Using Patient-Specific Induced Pluripotent Stem Cells and Wild-Type Mice to Develop a Gene Augmentation-Based Strategy to Treat CLN3-Associated Retinal Degeneration

Visual acuity changes in patients with leber congenital amaurosis and mutations in CEP290

Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa

Vitritis in pediatric genetic retinal disorders

What I learned from Irene Hussels Maumenee.

Which Leber congenital amaurosis patients are eligible for gene therapy trials?

Wide-Field Swept-Source OCT and Angiography in X-Linked Retinoschisis

α2δ-4 Is Required for the Molecular and Structural Organization of Rod and Cone Photoreceptor Synapses.