(Q37235765)

19 August 2017

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes (English)

1 reference

19 August 2017

1 reference

1 reference

13

Hülya Kayserili

0 references

Enza Maria Valente

24

Enza Maria Valente

0 references

Hilde Van Esch

22

Hilde Van Esch

0 references

Alessia Micalizzi

Alessia Micalizzi

5

0 references

Susanne Roosing

Susanne Roosing

1

0 references

Tommaso Mazza

Tommaso Mazza

7

0 references

Andrea Poretti

Andrea Poretti

20

0 references

Eugen Boltshauser

Eugen Boltshauser

10

1 reference

19 August 2017

23

Joseph G Gleeson

1 reference

19 August 2017

8

Lihadh Al-Gazali

1 reference

19 August 2017

2

Marta Romani

1 reference

19 August 2017

6

Damir Musaev

1 reference

19 August 2017

9

Umut Altunoglu

1 reference

19 August 2017

Mala Isrie

3

1 reference

19 August 2017

Rasim Ozgur Rosti

4

1 reference

19 August 2017

Stefano D'Arrigo

11

1 reference

19 August 2017

Bart De Keersmaecker

12

1 reference

19 August 2017

Sarah Brandenberger

14

1 reference

19 August 2017

Ichraf Kraoua

15

1 reference

19 August 2017

Paul R Mark

16

1 reference

19 August 2017

Trudy McKanna

17

1 reference

19 August 2017

Joachim Van Keirsbilck

18

1 reference

19 August 2017

Philippe Moerman

19

1 reference

19 August 2017

Ratna Puri

21

1 reference

19 August 2017

Hilde Van Esch

22

1 reference

19 August 2017

language of work or name

English

0 references

publication date

6 May 2016

1 reference

Journal of Medical Genetics

19 August 2017

1 reference

19 August 2017

53

1 reference

19 August 2017

9

1 reference

19 August 2017

608-615

1 reference

Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5013089

KIAA0586 is Mutated in Joubert Syndrome

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5013089

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5013089

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5013089

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5013089

A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5013089

Talpid3-binding centrosomal protein Cep120 is required for centriole duplication and proliferation of cerebellar granule neuron progenitors

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5013089

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5013089

Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5013089

Mutations in CSPP1 lead to classical Joubert syndrome

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5013089

Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5013089

Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5013089

Joubert syndrome: congenital cerebellar ataxia with the molar tooth

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5013089

CEP120 interacts with CPAP and positively regulates centriole elongation

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5013089

TCTN3 mutations cause Mohr-Majewski syndrome

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5013089

Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5013089

Tecto-cerebellar dysraphism with occipital encephalocele: not a distinct disorder, but part of the Joubert syndrome spectrum?

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5013089

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5013089

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5013089

Cep120 is asymmetrically localized to the daughter centriole and is essential for centriole assembly.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5013089

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5013089

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5013089

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5013089

Joubert syndrome: insights into brain development, cilium biology, and complex disease

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5013089

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5013089

New concepts on posterior fossa malformations

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5013089

Cep120 and TACCs control interkinetic nuclear migration and the neural progenitor pool.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5013089

Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5013089

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5013089

The Meckel syndrome: clinicopathological findings in 67 patients

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5013089

Centrosome motility is essential for initial axon formation in the neocortex.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5013089

TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5013089

C5orf42 is the major gene responsible for OFD syndrome type VI.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5013089

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5013089

Inverse cerebellum morphogenetically related to Dandy-Walker and Arnold-Chiari syndromes: bizarre malformed brain with occipital encephalocele

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5013089

Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5013089

Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5013089

Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5013089

Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5013089

Tectocerebellar dysraphism with vermian encephalocele.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5013089

Tectocerebellar dysraphia and occipital encephalocele: an unusual association with abdominal situs inversus and congenital heart disease.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5013089

Occipital extra- and intracranial lipoencephalocele associated with tectocerebellar dysraphia.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5013089

Pretectal pseudobobbing associated with an expanding posterior fossa cyst in tectocerebellar dysraphia: an electro-oculographic study.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5013089

Uncommon posterior cranial fossa anomalies: MRI with clinical correlation

3 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27208211

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMEDGENET-2016-103832

1 reference

19 August 2017

1 reference

19 August 2017

1 reference