RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. (Q37364346)

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scientific article published on 28 June 2008

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English	RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.	scientific article published on 28 June 2008

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Europe PubMed Central

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2752690

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

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9 January 2020

title

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

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Europe PubMed Central

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2752690

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9 January 2020

main subject

phenotype

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author

Bruno Dallapiccola

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13

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Europe PubMed Central

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2752690

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9 January 2020

Lorena Travaglini

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2

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2752690

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9 January 2020

Enrico Bertini

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9

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2752690

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9 January 2020

Alain Verloes

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12

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2752690

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9 January 2020

Enza Maria Valente

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15

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2752690

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9 January 2020

author name string

F Brancati

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1

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2752690

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9 January 2020

D Zablocka

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3

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2752690

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9 January 2020

E Boltshauser

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4

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2752690

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9 January 2020

P Accorsi

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5

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9 January 2020

G Montagna

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6

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2752690

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9 January 2020

J L Silhavy

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7

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2752690

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9 January 2020

G Barrano

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8

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Europe PubMed Central

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2752690

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

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9 January 2020

F Emma

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10

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Europe PubMed Central

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2752690

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

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9 January 2020

L Rigoli

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11

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2752690

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9 January 2020

J G Gleeson

series ordinal

14

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Europe PubMed Central

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2752690

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9 January 2020

publication date

28 June 2008

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Europe PubMed Central

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2752690

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retrieved

9 January 2020

published in

Clinical Genetics

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2752690

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9 January 2020

volume

74

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2752690

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9 January 2020

issue

2

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2752690

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9 January 2020

page(s)

164-170

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2752690

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9 January 2020

cites work

Genotypes and phenotypes of Joubert syndrome and related disorders

1 reference

stated in

PubMed Central

reference URL

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

retrieved

6 September 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

6 September 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

6 September 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

6 September 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

6 September 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

6 September 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

6 September 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

6 September 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

6 September 2017

Null RPGRIP1 alleles in patients with Leber congenital amaurosis

1 reference

stated in

PubMed Central

reference URL

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

retrieved

6 September 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

6 September 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

26 June 2018

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

2 September 2018

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

2 September 2018

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

2 September 2018

Identifiers

DOI

10.1111/J.1399-0004.2008.01047.X

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Europe PubMed Central

PMC publication ID

2752690

reference URL

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

retrieved

9 January 2020

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24 November 2022

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PMC publication ID

2752690

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Europe PubMed Central

PMC publication ID

2752690

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9 January 2020

PubMed publication ID

18565097

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PMC publication ID

2752690

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9 January 2020

ResearchGate publication ID

5291751

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