(Q37364346)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18565097%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

title

RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18565097%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

1 reference

13

1 reference

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9 January 2020

Lorena Travaglini

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18565097%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Enrico Bertini

9

1 reference

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9 January 2020

Alain Verloes

12

1 reference

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9 January 2020

Enza Maria Valente

15

1 reference

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9 January 2020

author name string

F Brancati

1

1 reference

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9 January 2020

D Zablocka

3

1 reference

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9 January 2020

E Boltshauser

4

1 reference

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9 January 2020

P Accorsi

5

1 reference

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9 January 2020

G Montagna

6

1 reference

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9 January 2020

J L Silhavy

7

1 reference

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9 January 2020

G Barrano

8

1 reference

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9 January 2020

F Emma

10

1 reference

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9 January 2020

L Rigoli

11

1 reference

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9 January 2020

J G Gleeson

14

1 reference

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9 January 2020

publication date

28 June 2008

1 reference

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9 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18565097%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

volume

74

1 reference

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9 January 2020

issue

2

1 reference

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9 January 2020

page(s)

164-170

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18565097%20AND%20SRC:MED&resulttype=core&format=json

Genotypes and phenotypes of Joubert syndrome and related disorders

9 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752690

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752690

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752690

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752690

High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752690

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752690

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752690

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752690

Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752690

Null RPGRIP1 alleles in patients with Leber congenital amaurosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752690

Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752690

Nephronophthisis type 1 deletion syndrome with neurological symptoms: prevalence and significance of the association.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752690

Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752690

Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752690

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752690

10.1111/J.1399-0004.2008.01047.X

2 September 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18565097%20AND%20SRC:MED&resulttype=core&format=json

release_gjwlmlemvvb5nhrf5zghfgqwey

9 January 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/gjwlmlemvvb5nhrf5zghfgqwey

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18565097%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

PubMed publication ID

18565097

1 reference