(Q34393588)

1 August 2017

Mutations in CSPP1 lead to classical Joubert syndrome (English)

1 reference

1 August 2017

0 references

19

Stacey Gabriel

1 reference

1 August 2017

Emily Spencer

15

0 references

Alicia Guemez-gamboa

Alicia Guemez-Gamboa

14

0 references

Maha Zaki

Maha S Zaki

7

0 references

Madhulika Kabra

Madhulika Kabra

10

0 references

Joseph G Gleeson

24

Joseph G Gleeson

1 reference

1 August 2017

12

Tawfeg Ben-Omran

1 reference

1 August 2017

22

Hans van Bokhoven

1 reference

1 August 2017

Naiara Akizu

1

1 reference

1 August 2017

Jennifer L Silhavy

2

1 reference

1 August 2017

Rasim Ozgur Rosti

3

1 reference

1 August 2017

Eric Scott

4

1 reference

1 August 2017

Ali G Fenstermaker

5

1 reference

1 August 2017

Jana Schroth

6

1 reference

1 August 2017

Henry Sanchez

8

1 reference

1 August 2017

Neerja Gupta

9

1 reference

1 August 2017

Majdi Kara

11

1 reference

1 August 2017

Basak Rosti

13

1 reference

1 August 2017

Roger Pan

16

1 reference

1 August 2017

Na Cai

17

1 reference

1 August 2017

Mostafa Abdellateef

18

1 reference

1 August 2017

Jan Halbritter

20

1 reference

1 August 2017

Friedhelm Hildebrandt

21

1 reference

1 August 2017

Murat Gunel

23

1 reference

1 August 2017

language of work or name

English

0 references

publication date

19 December 2013

1 reference

American Journal of Human Genetics

1 August 2017

1 reference

1 August 2017

94

1 reference

1 August 2017

1

1 reference

1 August 2017

80-86

1 reference

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

1 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882909

The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882909

A framework for variation discovery and genotyping using next-generation DNA sequencing data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882909

Joubert Syndrome and related disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882909

CSPP is a ciliary protein interacting with Nephrocystin 8 and required for cilia formation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882909

The primary cilium: a signalling centre during vertebrate development

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882909

HomozygosityMapper--an interactive approach to homozygosity mapping

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882909

Centrosome/spindle pole-associated protein regulates cytokinesis via promoting the recruitment of MyoGEF to the central spindle

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882909

Neural stem cells confer unique pinwheel architecture to the ventricular surface in neurogenic regions of the adult brain

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882909

Genotypes and phenotypes of Joubert syndrome and related disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882909

The graded response to Sonic Hedgehog depends on cilia architecture

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882909

CSPP and CSPP-L associate with centrosomes and microtubules and differently affect microtubule organization

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882909

Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882909

Identification of a novel centrosome/microtubule-associated coiled-coil protein involved in cell-cycle progression and spindle organization

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882909

Centrioles and the formation of rudimentary cilia by fibroblasts and smooth muscle cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882909

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882909

Is hearing loss a feature of Joubert syndrome, a ciliopathy?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882909

10.1016/J.AJHG.2013.11.015

27 October 2018

Identifiers

DOI

1 reference

1 August 2017

1 reference

1 August 2017

1 reference