(Q35591269)

9 August 2017

title

An unusual retinal vascular morphology in connection with a novel AIPL1 mutation in Leber's congenital amaurosis (English)

1 reference

9 August 2017

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Heegaard S

1

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9 August 2017

Rosenberg T

2

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9 August 2017

Preising M

3

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9 August 2017

Prause JU

4

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9 August 2017

Bek T

5

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9 August 2017

language of work or name

English

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publication date

1 August 2003

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British Journal of Ophthalmology

9 August 2017

published in

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9 August 2017

volume

87

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9 August 2017

issue

8

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9 August 2017

page(s)

980-983

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The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina

9 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771788

Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771788

Deletion in the OA1 gene in a family with congenital X linked nystagmus

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771788

Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771788

Mutations in the CRB1 gene cause Leber congenital amaurosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771788

A novel locus for Leber congenital amaurosis maps to chromosome 6q

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771788

Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771788

A novel locus for Leber congenital amaurosis on chromosome 14q24.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771788

De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771788

Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771788

Mutations in RPE65 cause Leber's congenital amaurosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771788

Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771788

Three-dimensional structure of human retinal vessels studied by vascular casting

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771788

Clinical pathology and retinal vascular structure in the Bardet-Biedl syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771788

Transretinal histopathological changes in capillary-free areas of diabetic retinopathy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771788

Vasoproliferative tumors of the ocular fundus. Classification and clinical manifestations in 103 patients

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771788

Keratoconus and Leber's congenital amaurosis: a clinicopathological correlation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771788

Classification of congenital and early onset retinitis pigmentosa.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771788

Leber's congenital amaurosis. Retrospective review of 43 cases and a new fundus finding in two cases

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771788

A simple salting out procedure for extracting DNA from human nucleated cells

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771788

Follow-up and diagnostic reappraisal of 75 patients with Leber's congenital amaurosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771788

Clinical and genetic heterogeneity in retinitis pigmentosa

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771788

ELECTRON MICROSCOPY OF A RETINAL ABIOTROPHY

12 July 2018

1 reference

12 December 2020

A novel locus for Leber congenital amaurosis (LCA4) with anterior keratoconus mapping to chromosome 17p13

1 reference

12 December 2020

Vascularization of the human fetal retina: roles of vasculogenesis and angiogenesis

1 reference

12 December 2020

Early-onset severe rod-cone dystrophy in young children with RPE65 mutations

1 reference

12 December 2020

Clinical spectrum of leber's congenital amaurosis in the second to fourth decades of life

1 reference

12 December 2020

The ocular pathology in Leber's congenital amaurosis

1 reference

12 December 2020

ON VARIOUS RECESSIVE BIOTYPES OF LEBER'S CONGENITAL AMAUROSIS

1 reference

12 December 2020

Identifiers

DOI

10.1136/BJO.87.8.980

1 reference

9 August 2017

1 reference

9 August 2017

1 reference