(Q35092183)

6 August 2017

title

Good epidemiologic practice in retinitis pigmentosa: from phenotyping to biobanking (English)

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6 August 2017

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Marzio Chizzolini

1

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6 August 2017

Alessandro Galan

2

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6 August 2017

Elisabeth Milan

3

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6 August 2017

Adolfo Sebastiani

4

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6 August 2017

Ciro Costagliola

5

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6 August 2017

Francesco Parmeggiani

6

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6 August 2017

publication date

1 June 2011

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6 August 2017

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6 August 2017

volume

12

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6 August 2017

issue

4

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6 August 2017

page(s)

260-266

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Treatment possibilities for retinitis pigmentosa

6 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=3131733

A novel mutation in retinitis pigmentosa GTPase regulator gene with a distinctive retinitis pigmentosa phenotype in a Chinese family

8 July 2018

1 reference

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PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131733

Biobanks and the importance of detailed phenotyping: a case study--the European Glaucoma Society GlaucoGENE project

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131733

Perspective on genes and mutations causing retinitis pigmentosa

8 July 2018

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8 July 2018

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8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131733

8 July 2018

1 reference

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Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131733

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131733

Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131733

Epidemiology of retinitis pigmentosa in the Valencian community (Spain).

8 July 2018

1 reference

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Population genetic studies of retinitis pigmentosa.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131733

Usher syndrome: definition and estimate of prevalence from two high-risk populations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131733

A study of retinitis pigmentosa in the City of Birmingham. I Prevalence

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131733

Tapeto-retinal degeneration in four Norwegian counties, II. Diagnostic evaluation of 407 relatives and genetic evaluation of 87 families

8 July 2018

1 reference

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Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131733

Prevalence and mode of inheritance of major genetic eye diseases in China.

8 July 2018

1 reference

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8 July 2018

RP cone-rod degeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131733

Prevalence of retinitis pigmentosa and allied disorders in Denmark

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131733

A population survey of retinitis pigmentosa and allied disorders in Denmark. Completeness of registration and quality of data

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131733

Prevalence of retinitis pigmentosa in Slovenia.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131733

Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131733

RPGR ORF15 genotype and clinical variability of retinal degeneration in an Australian population.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131733

Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131733

Phenotypic intrafamilial variability associated with S212G mutation in the RDS/peripherin gene

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131733

A novel de novo frameshift mutation of RPGR ORF15 is associated with X-linked retinitis pigmentosa in a Chinese family.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131733

Macular coloboma in siblings affected by different phenotypes of retinitis pigmentosa

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131733

Epidemiology of retinitis pigmentosa in Denmark.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131733

Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131733

Tapeto-retinal degeneration in four Norwegian counties, I. Diagnostic evaluation of 89 probands.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131733

Clinical variability in a family with X-linked retinal dystrophy and the locus at the RP3 site

27 September 2018

1 reference

12 December 2020

Clinical features of autosomal dominant retinitis pigmentosa with rhodopsin gene codon 17 mutation and retinal neovascularization in a Japanese patient

1 reference

12 December 2020

Clinical features of autosomal dominant retinitis pigmentosa associated with a Rhodopsin mutation

1 reference

12 December 2020

Variable expressivity in a Japanese family with autosomal dominant retinitis pigmentosa closely linked to chromosome 19q

1 reference

12 December 2020

Multicenter genetic study of retinitis pigmentosa in Japan: II. Prevalence of autosomal recessive retinitis pigmentosa

1 reference

12 December 2020

[Epidemiology and prevalence of hereditary retinal dystrophies in the Northern France]

1 reference

12 December 2020

[Epidemiology of blindness in Baden, Germany]

1 reference

12 December 2020

1 reference

12 December 2020

Prevalence of retinitis pigmentosa in Maine

1 reference

12 December 2020

Retinitis pigmentosa in the Navajo

1 reference

12 December 2020

10.2174/138920211795860071

Identifiers

DOI

1 reference

6 August 2017

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6 August 2017

1 reference