(Q41918641)

14 October 2017

Clinical utility gene card for: Meckel syndrome (English)

1 reference

14 October 2017

R Salonen

1

1 reference

14 October 2017

M Kestilä

series ordinal

2

1 reference

14 October 2017

C Bergmann

series ordinal

3

1 reference

14 October 2017

2 February 2011

1 reference

European Journal of Human Genetics

14 October 2017

1 reference

14 October 2017

19

1 reference

14 October 2017

7

1 reference

14 October 2017

769-775

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2010.255

14 October 2017

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137490

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137490

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137490

Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137490

Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137490

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137490

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137490

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137490

Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137490

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137490

Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137490

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137490

The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137490

MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137490

The Meckel syndrome: clinicopathological findings in 67 patients

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137490

Mutations of theCEP290gene encoding a centrosomal protein cause Meckel-Gruber syndrome

5 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2010.255

Clinical and genetic heterogeneity in Meckel syndrome

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21368913

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2010.255

1 reference

Dimensions Publication ID

14 October 2017

0 references

1 reference

14 October 2017

PubMed publication ID

21368913

1 reference