(Q81273667)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16189710%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

title

Severe autosomal recessive retinitis pigmentosa maps to chromosome 1p13.3-p21.2 between D1S2896 and D1S457 but outside ABCA4 (English)

1 reference

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7 January 2020

1 reference

Qingjiong Zhang

1

1 reference

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7 January 2020

Fareeha Zulfiqar

2

1 reference

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7 January 2020

Xueshan Xiao

3

1 reference

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7 January 2020

S Amer Riazuddin

4

1 reference

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7 January 2020

Radha Ayyagari

5

1 reference

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7 January 2020

Farooq Sabar

6

1 reference

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7 January 2020

Raphael Caruso

7

1 reference

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7 January 2020

Paul A Sieving

8

1 reference

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7 January 2020

Sheikh Riazuddin

9

1 reference

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7 January 2020

J Fielding Hejtmancik

10

1 reference

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7 January 2020

publication date

28 September 2005

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7 January 2020

1 reference

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7 January 2020

volume

118

1 reference

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7 January 2020

issue

3-4

1 reference

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7 January 2020

page(s)

356-365

1 reference

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https://scigraph.springernature.com/pub.10.1007/s00439-005-0054-4

7 January 2020

exact match

0 references

cites work

Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration

1 reference

12 December 2020

Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutations in the ABCA4 gene in a family with Stargardt's disease and retinitis pigmentosa (STGD1/RP19)

1 reference

12 December 2020

Chromosome 19q cone-rod retinal dystrophy. Ocular phenotype

1 reference

12 December 2020

MERTK arginine-844-cysteine in a patient with severe rod-cone dystrophy: loss of mutant protein function in transfected cells

1 reference

12 December 2020

Prevalence and causes of visual impairment and blindness among 9980 Scandinavian adults: the Copenhagen City Eye Study.

1 reference

12 December 2020

Three families displaying the combination of Stargardt's disease with cone-rod dystrophy or retinitis pigmentosa

1 reference

12 December 2020

Population genetic studies of retinitis pigmentosa.

1 reference

12 December 2020

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

1 reference

12 December 2020

Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase

1 reference

12 December 2020

The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease

1 reference

12 December 2020

Avoiding recomputation in linkage analysis.

1 reference

12 December 2020

Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa

1 reference

12 December 2020

Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease

1 reference

12 December 2020

Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR

1 reference

12 December 2020

Genotyping microarray (gene chip) for the ABCR (ABCA4) gene.

1 reference

12 December 2020

A new locus for autosomal recessive RP (RP29) mapping to chromosome 4q32-q34 in a Pakistani family

1 reference

12 December 2020

Clinical findings and common symptoms in retinitis pigmentosa

1 reference

12 December 2020

Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR

1 reference

12 December 2020

Association of a homozygous nonsense mutation in the ABCA4 (ABCR) gene with cone-rod dystrophy phenotype in an Italian family

1 reference

12 December 2020

A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21

1 reference

12 December 2020

Null missense ABCR (ABCA4) mutations in a family with stargardt disease and retinitis pigmentosa.

1 reference

12 December 2020

Arrestin gene mutations in autosomal recessive retinitis pigmentosa

1 reference

12 December 2020

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

1 reference

12 December 2020

Ocular phenotype of bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene

1 reference

12 December 2020

Analysis of ABCA4 in mixed Spanish families segregating different retinal dystrophies.

1 reference

12 December 2020

Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26).

1 reference

12 December 2020

Exclusion of Usher syndrome gene from much of chromosome 4.

1 reference

12 December 2020

Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice

1 reference

12 December 2020

A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid-receptor clusters

1 reference

12 December 2020

ABCA4 gene mutations in Japanese patients with Stargardt disease and retinitis pigmentosa

1 reference

12 December 2020

Clinical study of a large family with autosomal dominant progressive cone degeneration.

1 reference

12 December 2020

Treatment with isotretinoin inhibits lipofuscin accumulation in a mouse model of recessive Stargardt's macular degeneration

1 reference

12 December 2020

Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase

1 reference

12 December 2020

Novel locus for autosomal recessive cone-rod dystrophy CORD8 mapping to chromosome 1q12-Q24

1 reference

12 December 2020

Easy calculations of lod scores and genetic risks on small computers

1 reference

12 December 2020

A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa

1 reference

12 December 2020

Standard for clinical electroretinography. International Standardization Committee

1 reference

12 December 2020

Homozygosity mapping of autosomal recessive retinitis pigmentosa locus (RP22) on chromosome 16p12.1-p12.3.

1 reference

12 December 2020

Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus

1 reference

12 December 2020

Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease

1 reference

12 December 2020

Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy

1 reference

12 December 2020

Autosomal recessive retinitis pigmentosa locus RP28 maps between D2S1337 and D2S286 on chromosome 2p11-p15 in an Indian family.

1 reference

12 December 2020

Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease

1 reference

12 December 2020

Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa.

1 reference

12 December 2020

Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa

1 reference

12 December 2020

Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss

1 reference

12 December 2020

Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa

1 reference

12 December 2020

The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition.

1 reference

12 December 2020

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy

1 reference

12 December 2020

An analysis of allelic variation in the ABCA4 gene

1 reference

12 December 2020

Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa

1 reference

12 December 2020

Phenotypic variations in a family with retinal dystrophy as result of different mutations in the ABCR gene

1 reference

12 December 2020

Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)

1 reference

12 December 2020

Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia

1 reference

12 December 2020

Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus

1 reference

12 December 2020