(Q36035743)

11 August 2017

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

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11 August 2017

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13

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11 August 2017

Ingrid E Scheffer

2

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Saffron Willis-Owen

12

object named as

Saffron Willis-Owen

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11 August 2017

Michael Field

1

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11 August 2017

Deepak Gill

3

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11 August 2017

Meredith Wilson

4

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11 August 2017

Louise Christie

5

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11 August 2017

Marie Shaw

6

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11 August 2017

Alison Gardner

7

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11 August 2017

Georgie Glubb

8

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11 August 2017

Lynne Hobson

9

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11 August 2017

Mark Corbett

10

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11 August 2017

Kathryn Friend

11

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11 August 2017

22 February 2012

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European Journal of Human Genetics

11 August 2017

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11 August 2017

20

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7

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11 August 2017

806-809

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https://scigraph.springernature.com/pub.10.1038/ejhg.2012.9

11 August 2017

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cites work

Exome sequencing as a tool for Mendelian disease gene discovery

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376274

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376274

Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376274

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376274

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376274

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376274

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376274

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376274

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376274

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376274

Joubert syndrome: long-term follow-up

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376274

Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376274

Cerebral dysgenesis does not exclude OFD I syndrome

23 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2012.9

21 January 2018

Identifiers

DOI

10.1038/EJHG.2012.9

1 reference

11 August 2017

1 reference

11 August 2017

PubMed publication ID

22353940

1 reference