(Q24534179)

4 July 2017

Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria (English)

1 reference

4 July 2017

0 references

1 reference

7

Lihadh Al-Gazali

1 reference

4 July 2017

9

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Joseph G Gleeson

11

object named as

Joseph G Gleeson

1 reference

4 July 2017

2

Jennifer L Silhavy

1 reference

4 July 2017

4

Carrie M Louie

1 reference

4 July 2017

1

Tracy Dixon-Salazar

1 reference

4 July 2017

8

Asma A Al-Tawari

1 reference

4 July 2017

6

Aithala Gururaj

1 reference

4 July 2017

Sarah E Marsh

3

1 reference

4 July 2017

Lesley C Scott

5

1 reference

4 July 2017

László Sztriha

10

1 reference

4 July 2017

Hulya Kayserili

9

1 reference

4 July 2017

language of work or name

English

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publication date

4 October 2004

1 reference

American Journal of Human Genetics

4 July 2017

1 reference

4 July 2017

75

1 reference

4 July 2017

6

1 reference

4 July 2017

979-987

1 reference

Homozygosity mapping of a third Joubert syndrome locus to 6q23

4 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182159

Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3.

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182159

Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182159

Ahi-1, a novel gene encoding a modular protein with WD40-repeat and SH3 domains, is targeted by the Ahi-1 and Mis-2 provirus integrations

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182159

Deregulated expression in Ph+ human leukemias of AHI-1, a gene activated by insertional mutagenesis in mouse models of leukemia

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182159

Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182159

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182159

A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182159

The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182159

Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182159

Clinical nosologic and genetic aspects of Joubert and related syndromes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182159

Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182159

Joubert syndrome: a review

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182159

Syndromes of bilateral symmetrical polymicrogyria

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182159

Cloning of inv, a gene that controls left/right asymmetry and kidney development.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182159

"Joubert syndrome" revisited: key ocular motor signs with magnetic resonance imaging correlation.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182159

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182159

Bilateral fronto-occipital polymicrogyria and epilepsy.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182159

29 November 2018

Identifiers

DOI

10.1086/425985

1 reference

OpenCitations bibliographic resource ID

4 July 2017

1797444

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

4 July 2017

1 reference