(Q33679522)

28 July 2017

title

Severe manifestations in carrier females in X linked retinitis pigmentosa (English)

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28 July 2017

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12

Munnich A

1 reference

28 July 2017

Souied E

1

1 reference

28 July 2017

Segues B

2

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28 July 2017

Ghazi I

3

1 reference

28 July 2017

Rozet JM

4

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28 July 2017

Chatelin S

5

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28 July 2017

Gerber S

6

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28 July 2017

Perrault I

7

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28 July 2017

Michel-Awad A

8

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28 July 2017

Briard ML

9

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28 July 2017

Plessis G

10

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28 July 2017

Dufier JL

11

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28 July 2017

Kaplan J

13

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28 July 2017

language of work or name

English

0 references

publication date

1 October 1997

1 reference

Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

34

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28 July 2017

issue

10

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28 July 2017

page(s)

793-797

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A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051083

X-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP 15) to Xp22.13-p22.11

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051083

A modified ERG technique and the results obtained in X-linked retinitis pigmentosa

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051083

Clinical and genetic heterogeneity in retinitis pigmentosa

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051083

Phenotype-genotype correlations in X linked retinitis pigmentosa

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051083

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051083

X-linked retinitis pigmentosa

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051083

Electroretinographic testing as an aid in detection of carriers of X-chromosome-linked retinitis pigmentosa

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051083

Linkage analysis of a large Latin-American family with X-linked retinitis pigmentosa and metallic sheen in the heterozygote carrier

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051083

X-linked recessive retinitis pigmentosa. Clinical characteristics of carriers

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9350809

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

X-inactivation pattern in carriers of X-linked retinitis pigmentosa: a valuable means of prognostic evaluation?

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9350809

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.34.10.793

1 reference

28 July 2017

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28 July 2017

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