(Q80540713)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17597771%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

title

Clinical variability in ciliary disorders (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17597771%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

author name string

Kirk Mykytyn

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17597771%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

publication date

1 July 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17597771%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17597771%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

volume

39

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17597771%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17597771%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

page(s)

818-819

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17597771%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ng0707-818

1 January 2020

exact match

0 references

cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0707-818

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0707-818

7 January 2021

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG0707-818

7 January 2021

Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG0707-818

7 January 2021

Defects in brain patterning and head morphogenesis in the mouse mutant Fused toes.

1 reference

https://api.crossref.org/works/10.1038%2FNG0707-818

7 January 2021

Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations

1 reference

https://api.crossref.org/works/10.1038%2FNG0707-818

7 January 2021

Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes

1 reference

https://api.crossref.org/works/10.1038%2FNG0707-818

7 January 2021

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

1 reference

https://api.crossref.org/works/10.1038%2FNG0707-818

7 January 2021

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG0707-818

7 January 2021

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.1038%2FNG0707-818

7 January 2021

Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus

1 reference

https://api.crossref.org/works/10.1038%2FNG0707-818

7 January 2021

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

https://api.crossref.org/works/10.1038%2FNG0707-818

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0707-818

7 January 2021

The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation

1 reference

https://api.crossref.org/works/10.1038%2FNG0707-818

7 January 2021

Hedgehog signalling in the mouse requires intraflagellar transport proteins

1 reference

https://api.crossref.org/works/10.1038%2FNG0707-818

7 January 2021

Identifiers

DOI

10.1038/NG0707-818

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17597771%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

1 reference