RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa (Q34559746)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16055928%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

title

RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16055928%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

0 references

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primary ciliary dyskinesia

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11

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4 January 2020

author name string

A Moore

1

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4 January 2020

E Escudier

2

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4 January 2020

G Roger

3

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4 January 2020

A Tamalet

4

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4 January 2020

B Pelosse

5

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4 January 2020

S Marlin

6

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A Clément

7

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M Geremek

8

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4 January 2020

B Delaisi

9

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4 January 2020

A-M Bridoux

10

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4 January 2020

M Witt

12

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4 January 2020

B Duriez

13

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S Amselem

14

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language of work or name

English

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publication date

31 July 2005

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16055928%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

4 January 2020

published in

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4 January 2020

volume

43

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4 January 2020

issue

4

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4 January 2020

page(s)

326-333

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Primary ciliary dyskinesia: genes, candidate genes and chromosomal regions

4 January 2020

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Apparent X-linked primary ciliary dyskinesia associated with retinitis pigmentosa and a hearing loss.

7 July 2018

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Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families

7 July 2018

1 reference

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RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections

7 July 2018

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7 July 2018

Intraflagellar transport

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A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa

7 July 2018

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The intraflagellar transport protein, IFT88, is essential for vertebrate photoreceptor assembly and maintenance

7 July 2018

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Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry

7 July 2018

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Genetic evidence for selective transport of opsin and arrestin by kinesin-II in mammalian photoreceptors

7 July 2018

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Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.

7 July 2018

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Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa

7 July 2018

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Identification of a 5' splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3)

7 July 2018

1 reference

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Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study

7 July 2018

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Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa

7 July 2018

1 reference

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Positional cloning of the gene for X-linked retinitis pigmentosa 2

7 July 2018

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Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa

7 July 2018

1 reference

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Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1

7 July 2018

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Axonemal dyneins: assembly, organization, and regulation

7 July 2018

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

7 July 2018

1 reference

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Usher syndrome type I associated with bronchiectasis and immotile nasal cilia in two brothers

7 July 2018

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Unusual inheritance of primary ciliary dyskinesia (Kartagener's syndrome)

7 July 2018

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Heterogeneity analysis in 40 X-linked retinitis pigmentosa families

7 July 2018

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Variations in the ultrastructure of human nasal cilia including abnormalities found in retinitis pigmentosa

7 July 2018

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Hydrocephalus and primary ciliary dyskinesia

7 July 2018

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7 July 2018

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Abnormal axonemes in X-linked retinitis pigmentosa

7 July 2018

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Clinical investigation of retinitis pigmentosa

7 July 2018

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Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests

7 July 2018

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Ultrastructure of connecting cilia in different forms of retinitis pigmentosa

7 July 2018

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7 July 2018

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7 July 2018

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A Human Syndrome Caused by Immotile Cilia

7 July 2018

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Increased incidence of abnormal nasal cilia in patients with retinitis pigmentosa

7 July 2018

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PCD and RP: X-linked inheritance of both disorders?

7 July 2018

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Increasing evidence for syndromic phenotypes associated with RPGR mutations

27 October 2018

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Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation

27 October 2018

1 reference

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RPGR isoforms in photoreceptor connecting cilia and the transitional zone of motile cilia

27 October 2018

1 reference

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Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa

27 October 2018

1 reference

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A longitudinal study of visual function in carriers of X-linked recessive retinitis pigmentosa.

27 October 2018

1 reference

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Dynein arms are oscillating force generators

27 October 2018

1 reference

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27 October 2018

No longer 'all-or-none'

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12 December 2020

The dyskinetic cilia syndrome. Ciliary motility in immotile cilia syndrome

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12 December 2020

Immotile cilia syndrome associated with polycystic kidney

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12 December 2020

Abnormal sperm and photoreceptor axonemes in Usher's syndrome

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12 December 2020

Signals for the selection of a splice site in pre-mRNA. Computer analysis of splice junction sequences and like sequences

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12 December 2020

Immotile cilia syndrome including polysplenia, situs inversus, and extrahepatic biliary atresia

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12 December 2020

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12 December 2020

A family with RP3 type of X-linked retinitis pigmentosa: an association with ciliary abnormalities

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12 December 2020

Identifiers

DOI

10.1136/JMG.2005.034868

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16055928%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16055928%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

PubMed publication ID

16055928

1 reference