(Q36122430)

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Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)

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scholarly article

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22619378%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23) (English)

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2 February 2020

retinitis pigmentosa

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inferred from title

1

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2 February 2020

Michael E. Cheetham

14

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2 February 2020

Alison Hardcastle

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2 February 2020

author name string

David A Parfitt

2

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2 February 2020

Jessica C Gardner

3

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2 February 2020

Ariadna Martinez

4

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2 February 2020

Dalila Bevilacqua

5

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2 February 2020

Alice E Davidson

6

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2 February 2020

Ilaria Zito

7

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2 February 2020

Dawn L Thiselton

8

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2 February 2020

Jacob H C Ressa

9

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2 February 2020

Marina Apergi

10

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2 February 2020

Nele Schwarz

11

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2 February 2020

Naheed Kanuga

12

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2 February 2020

Michel Michaelides

13

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2 February 2020

Michael B Gorin

15

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2 February 2020

publication date

22 May 2012

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2 February 2020

Human Molecular Genetics

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2 February 2020

21

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2 February 2020

3647-3654

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2 February 2020

16

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2 February 2020

describes a project that uses

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11 June 2022

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based on heuristic

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Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3406759

2 October 2017

Centriolar satellites are assembly points for proteins implicated in human ciliopathies, including oral-facial-digital syndrome 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3406759

2 October 2017

Ofd1 is required in limb bud patterning and endochondral bone development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3406759

2 October 2017

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3406759

2 October 2017

RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3406759

2 October 2017

Ofd1, a human disease gene, regulates the length and distal structure of centrioles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3406759

2 October 2017

The molecular basis of oral-facial-digital syndrome, type 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3406759

2 October 2017

OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3406759

2 October 2017

Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3406759

2 October 2017

Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3406759

2 October 2017

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3406759

2 October 2017

Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3406759

2 October 2017

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3406759

2 October 2017

A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3406759

2 October 2017

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3406759

2 October 2017

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3406759

2 October 2017

Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3406759

2 October 2017

Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3406759

2 October 2017

X-inactivation profile reveals extensive variability in X-linked gene expression in females

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3406759

2 October 2017

OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3406759

2 October 2017

Novel double-deletion mutations of the OFD1 gene creating multiple novel transcripts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3406759

2 October 2017

An atypical phenotype of macular and peripapillary retinal atrophy caused by a mutation in the RP2 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3406759

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3406759

2 October 2017

Long-term follow-up of a girl with oro-facio-digital syndrome type I due to a mutation in the OFD 1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3406759

2 October 2017

Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3406759

2 October 2017

X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3406759

2 October 2017

Identification of the gene for oral-facial-digital type I syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3406759

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3406759

2 October 2017

A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3406759

2 October 2017

Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3406759

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3406759

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3406759

2 October 2017

X-linked retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3406759

2 October 2017

A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3406759

2 July 2018

RPGR mutation analysis and disease: an update.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3406759

23 September 2018

Mapping a new genetic locus for X linked retinitis pigmentosa to Xq28.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3406759

23 September 2018

Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3406759

23 September 2018

X-linked recessive atrophic macular degeneration from RPGR mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3406759

23 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3406759

23 September 2018

Search for genomic imbalances in a cohort of 20 patients with oral-facial-digital syndromes negative for mutations and large rearrangements in theOFD1gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3406759

5 December 2018

Mutations of theCEP290gene encoding a centrosomal protein cause Meckel-Gruber syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3406759

5 December 2018

Evidence for a new locus for X-linked retinitis pigmentosa (RP23)

1 reference

https://pubmed.ncbi.nlm.nih.gov/22619378

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/HMG/DDS194

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2 February 2020

1 reference

Europe PubMed Central

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2 February 2020

1 reference

Europe PubMed Central

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2 February 2020

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