(Q31023668)

28 June 2017

Analysis of three genes in Leber congenital amaurosis in Indonesian patients (English)

1 reference

Leber congenital amaurosis

28 June 2017

0 references

0 references

1 reference

based on heuristic

inferred from title

cell surface receptor

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14611946

31 March 2024

1 reference

https://api.crossref.org/works/10.1016/J.VISRES.2003.08.008

31 March 2024

author name string

Birgit Lorenz

2

1 reference

28 June 2017

Rita S. Sitorus

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14611946

31 March 2024

Markus N. Preising

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14611946

31 March 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=14611946

31 March 2024

publication date

1 December 2003

1 reference

full work available at URL

28 June 2017

https://doi.org/10.1016/j.visres.2003.08.008

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14611946

https://api.elsevier.com/content/article/PII:S004269890300498X?httpAccept=text/xml

31 March 2024

1 reference

https://api.crossref.org/works/10.1016/J.VISRES.2003.08.008

https://api.elsevier.com/content/article/PII:S004269890300498X?httpAccept=text/plain

31 March 2024

1 reference

https://api.crossref.org/works/10.1016/J.VISRES.2003.08.008

31 March 2024

1 reference

28 June 2017

43

1 reference

28 June 2017

28

1 reference

28 June 2017

3087-3093

1 reference

The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1

28 June 2017

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2003.08.008

Mutational analysis and clinical correlation in Leber congenital amaurosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2003.08.008

Null RPGRIP1 alleles in patients with Leber congenital amaurosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2003.08.008

Clinical course and visual function in a family with mutations in the RPE65 gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2003.08.008

Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2003.08.008

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2003.08.008

Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2003.08.008

Retinal dystrophies caused by mutations in RPE65: assessment of visual functions

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2003.08.008

Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2003.08.008

RPE65 gene: multiplex PCR and mutation screening in patients from India with retinal degenerative diseases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2003.08.008

Ueber Retinitis pigmentosa und angeborene Amaurose

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2003.08.008

Mutations in the CRB1 gene cause Leber congenital amaurosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2003.08.008

Mutation analysis of 3 genes in patients with Leber congenital amaurosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2003.08.008

Identification of a novel polymorphism (IVS6-33C->G) and two novel rare variants (IVS6-42delT and IVS6-43delA) in RPE65 gene.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2003.08.008

Mutations in RPE65 cause Leber's congenital amaurosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2003.08.008

Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2003.08.008

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2003.08.008

Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2003.08.008

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2003.08.008

Spectrum of retGC1 mutations in Leber's congenital amaurosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2003.08.008

Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2003.08.008

Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2003.08.008

Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2003.08.008

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2003.08.008

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2003.08.008

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

7 January 2021

14

1 reference

https://api.crossref.org/works/10.1016/J.VISRES.2003.08.008

31 March 2024

Identifiers

1 reference

28 June 2017

1 reference