Nanophthalmos: A Review of the Clinical Spectrum and Genetics. (Q55351376)

http://europepmc.org/abstract/PMC/5971257

3 July 2018

title

Nanophthalmos: A Review of the Clinical Spectrum and Genetics. (English)

1 reference

http://europepmc.org/abstract/PMC/5971257

3 July 2018

1 reference

Pedro Carlos Carricondo

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29862063%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Lev Prasov

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29862063%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

author name string

Thais Andrade

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29862063%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Bernadete M Ayres

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29862063%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Sayoko E Moroi

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29862063%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

publication date

9 May 2018

1 reference

http://europepmc.org/abstract/PMC/5971257

3 July 2018

published in

Journal of Ophthalmology

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29862063%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

volume

2018

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29862063%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

page(s)

2735465

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29862063%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

2 June 2020

copyright license

start time

1 January 2018

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

1 reference

April 2022 Public Data File from Crossref

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10 July 2018

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10 July 2018

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10 July 2018

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10 July 2018

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10 July 2018

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Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6

10 July 2018

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10 July 2018

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10 July 2018

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Mutations in the CRB1 gene cause Leber congenital amaurosis

10 July 2018

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Autosomal dominant nanophthalmos (NNO1) with high hyperopia and angle-closure glaucoma maps to chromosome 11

10 July 2018

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10 July 2018

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10 July 2018

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10 July 2018

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10 July 2018

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10 July 2018

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Nanophthalmos: a perspective on identification and therapy.

10 July 2018

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10 July 2018

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Gene Therapy Restores Mfrp and Corrects Axial Eye Length

10 July 2018

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A Randomized Controlled Trial Comparing Outcomes of Cataract Surgery in Nanophthalmos With and Without Prophylactic Sclerostomy.

12 August 2018

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Co-inheritance of the membrane frizzled-related protein ocular phenotype and glycogen storage disease type Ib.

12 August 2018

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Subfoveal choroidal thickness measurements with enhanced depth imaging optical coherence tomography in patients with nanophthalmos

12 August 2018

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Biometric and molecular characterization of clinically diagnosed posterior microphthalmos

12 August 2018

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Homozygosity mapping identifies the Crumbs homologue 1 (Crb1) gene as responsible for a recessive syndrome of retinitis pigmentosa and nanophthalmos.

12 August 2018

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Anterior segment abnormalities and angle-closure glaucoma in a family with a mutation in the BEST1 gene and Best vitelliform macular dystrophy.

12 August 2018

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

12 August 2018

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A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen

12 August 2018

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The mouse's eye and Mfrp: not quite human

12 August 2018

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Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).

12 August 2018

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Angle closure glaucoma in nanophthalmos and pigmentary retinal dystrophy: a rare syndrome.

12 August 2018

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Posterior segment changes associated with posterior microphthalmos

12 August 2018

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Clinical and electrophysiological findings in autosomal dominant vitreoretinochoroidopathy: report of a new pedigree

12 August 2018

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[Familial nanophthalmos]

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12 December 2020

Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma. A new recessive syndrome

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Autosomal recessive nanophthalmos

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Abnormal collagen fibrils in nanophthalmos: a clinical and histologic study

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Retinitis pigmentosa, nanophthalmos, and optic disc drusen: a case report

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Relative anterior microphthalmos: morphometric analysis and its implications for cataract surgery

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Retinal degeneration 6 (rd6): a new mouse model for human retinitis punctata albescens

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A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis

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Management of glaucoma in patients with nanophthalmos

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Abnormal foveal avascular zone in nanophthalmos

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Localization of a novel gene for congenital nonsyndromic simple microphthalmia to chromosome 2q11-14

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Posterior microphthalmos versus nanophthalmos

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Assessment of the anterior chamber angle in patients with nanophthalmos: an anterior segment optical coherence tomography study

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Cataract surgery in small adult eyes

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RETINAL AND CHOROIDAL CHANGES OF NANOPHTHALMIC EYES WITH AND WITHOUT SECONDARY GLAUCOMA

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Small eyes-big problems

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BESTROPHINOPATHY: A Spectrum of Ocular Abnormalities Caused by the c.614T>C Mutation in the BEST1 Gene

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12 December 2020

Identifiers

DOI

10.1155/2018/2735465

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29862063%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29862063%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

1 reference