RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation (Q37952620)

25 August 2017

RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation (English)

1 reference

25 August 2017

1 reference

8

1 reference

25 August 2017

Christina Zeitz

10

0 references

Isabelle Audo

object named as

Isabelle Audo

1

0 references

Saddek Mohand-Saïd

2

object named as

Saddek Mohand-Saïd

1 reference

25 August 2017

4

Aurore Germain

1 reference

25 August 2017

5

Elise Orhan

1 reference

25 August 2017

6

Aline Antonio

1 reference

25 August 2017

Claire-Marie Dhaenens

3

object named as

Claire-Marie Dhaenens

1 reference

25 August 2017

Christian Hamel

7

1 reference

25 August 2017

Shomi S Bhattacharya

9

1 reference

25 August 2017

1 December 2011

1 reference

25 August 2017

1 reference

25 August 2017

33

1 reference

25 August 2017

1

1 reference

25 August 2017

73-80

1 reference

Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports

25 August 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21640

Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21640

Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21640

A novel missense RP1 mutation in retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21640

Genetic factors modifying clinical expression of autosomal dominant RP.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21640

A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21640

A novel mutation of the RP1 gene (Lys778ter) associated with autosomal dominant retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21640

Bimodal expressivity in dominant retinitis pigmentosa genetically linked to chromosome 19q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21640

Doublecortin is a developmentally regulated, microtubule-associated protein expressed in migrating and differentiating neurons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21640

Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21640

Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21640

Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21640

A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21640

Novel 2336-2337delCT mutation in RP1 gene in a Japanese family with autosomal dominant retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21640

Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21640

The severity of retinal degeneration in Rp1h gene-targeted mice is dependent on genetic background

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21640

Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21640

Unilateral retinitis pigmentosa occurring in an individual with a germline mutation in the RP1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21640

Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21640

Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21640

Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21640

De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21640

Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21640

Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21640

Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21640

Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21640

Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: a molecular clue for incomplete penetrance?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21640

Mouse model resources for vision research

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21640

Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21640

Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21640

Purification and crystallization of the N-terminal domain from the human doublecortin-like kinase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21640

RP1 in Chinese: Eight novel variants and evidence that truncation of the extreme C-terminal does not cause retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21640

inferred from DOI database lookup

7 January 2021

based on heuristic

Compound heterozygosity of two novel truncation mutations in RP1 causing autosomal recessive retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21640

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.21640

1 reference

release_mx65y33tizbcblithjvxulzuty

25 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/mx65y33tizbcblithjvxulzuty

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference