(Q29615746)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18327255%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

title

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome (English)

2 references

PubMed

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=18327255

30 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18327255%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

main subject

Transmembrane protein 67

1 reference

GOA release 2020-03-11

Bardet-Biedl syndrome

1 reference

Erratum: Corrigendum: Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

inferred from title

corrigendum / erratum

0 references

author

Jose Badano

13

1 reference

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3 January 2020

Nicholas Katsanis

14

1 reference

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3 January 2020

11

Helene Dollfus

1 reference

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3 January 2020

author name string

Carmen C Leitch

1

1 reference

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3 January 2020

Norann A Zaghloul

2

1 reference

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3 January 2020

Erica E Davis

3

1 reference

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3 January 2020

Corinne Stoetzel

4

1 reference

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3 January 2020

Anna Diaz-Font

5

1 reference

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3 January 2020

Suzanne Rix

6

1 reference

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3 January 2020

Majid Alfadhel

7

1 reference

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3 January 2020

Richard Alan Lewis

8

1 reference

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3 January 2020

Wafaa Eyaid

9

1 reference

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3 January 2020

Eyal Banin

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18327255%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

Philip L Beales

12

1 reference

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3 January 2020

language of work or name

1 reference

30 April 2017

publication date

9 March 2008

1 reference

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3 January 2020

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=18327255

30 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18327255%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

volume

40

2 references

PubMed

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30 April 2017

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3 January 2020

issue

4

2 references

PubMed

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30 April 2017

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3 January 2020

page(s)

443-448

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18327255%20AND%20SRC:MED&resulttype=core&format=json

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

3 January 2020

cites work

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

The Ciliopathies: An Emerging Class of Human Genetic Disorders

1 reference

7 January 2021

Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome

1 reference

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

7 January 2021

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome

1 reference

7 January 2021

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

1 reference

7 January 2021

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

1 reference

7 January 2021

Dissection of epistasis in oligogenic Bardet-Biedl syndrome

1 reference

7 January 2021

The emerging complexity of the vertebrate cilium: new functional roles for an ancient organelle

1 reference

7 January 2021

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

1 reference

7 January 2021

Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response

1 reference

7 January 2021

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

1 reference

7 January 2021

The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Ftm is a novel basal body protein of cilia involved in Shh signalling

1 reference

7 January 2021

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome

1 reference

7 January 2021

Human non-synonymous SNPs: server and survey

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome

1 reference

7 January 2021

Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome

1 reference

7 January 2021

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=18327255

Identifiers

3 references

30 April 2017

Consolidated OpenCitations Corpus – April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18327255%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

3 January 2020

1038326482

0 references

1 reference

Consolidated OpenCitations Corpus – April 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=18327255

3 references

30 April 2017

Consolidated OpenCitations Corpus – April 2017