AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome (Q24656002)

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6 January 2020

title

AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome (English)

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6 January 2020

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13

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6 January 2020

author name string

M A Parisi

1

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6 January 2020

D Doherty

2

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6 January 2020

M L Eckert

3

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6 January 2020

D W W Shaw

4

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H Ozyurek

5

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S Aysun

6

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6 January 2020

O Giray

7

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A Al Swaid

8

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S Al Shahwan

9

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N Dohayan

10

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E Bakhsh

11

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O S Indridason

12

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C L Bennett

14

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P F Chance

15

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I A Glass

16

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6 January 2020

language of work or name

English

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publication date

9 September 2005

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Journal of Medical Genetics

6 January 2020

published in

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6 January 2020

volume

43

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6 January 2020

issue

4

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6 January 2020

page(s)

334-339

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

6 January 2020

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7 April 2017

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Homozygosity mapping of a third Joubert syndrome locus to 6q23

7 April 2017

1 reference

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

7 April 2017

1 reference

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

7 April 2017

1 reference

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Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis

7 April 2017

1 reference

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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

7 April 2017

1 reference

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Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata

7 April 2017

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RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

7 April 2017

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

7 April 2017

1 reference

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

7 April 2017

1 reference

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The WD repeat: a common architecture for diverse functions

7 April 2017

1 reference

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

7 April 2017

1 reference

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Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).

28 September 2017

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

28 September 2017

1 reference

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

28 September 2017

1 reference

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Clinical features and revised diagnostic criteria in Joubert syndrome

28 September 2017

1 reference

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Joubert's syndrome with retinal dysplasia: neonatal tachypnoea as the clue to a genetic brain-eye malformation

28 September 2017

1 reference

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Joubert syndrome: a review

28 September 2017

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"Joubert Syndrome" Revisited: Key Ocular Motor Signs With Magnetic Resonance Imaging Correlation

28 September 2017

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Improved Splice Site Detection in Genie

30 May 2018

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Prediction of human mRNA donor and acceptor sites from the DNA sequence

30 May 2018

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Distinguishing the four genetic causes of Jouberts syndrome-related disorders

30 May 2018

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NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders.

28 November 2018

1 reference

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

28 November 2018

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Joubert syndrome: a haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) gene.

28 November 2018

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28 November 2018

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Three novel mutations responsible for Cockayne syndrome group A.

28 November 2018

1 reference

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Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype

28 November 2018

1 reference

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Improved strategy for molecular genetic diagnostics in juvenile nephronophthisis

28 November 2018

1 reference

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Lack of large, homozygous deletions of the nephronophthisis 1 region in Joubert syndrome type B. APN Study Group. Arbeitsgemeinschaft für Pädiatrische Nephrologie

28 November 2018

1 reference

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Renal disease in Arima syndrome is nephronophthisis as in other Joubert-related Cerebello-oculo-renal syndromes

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16155189

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.2005.036608

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16155189%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

1 reference

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6 January 2020

PubMed publication ID

16155189

1 reference