(Q28292428)

Peer Arts

6

0 references

Joris A Veltman

Joris A Veltman

13

0 references

Alexander Hoischen

3

Alexander Hoischen

0 references

Han G. Brunner

14

Han G Brunner

0 references

Jeroen van Reeuwijk

9

Jeroen van Reeuwijk

0 references

Nine V. A. M. Knoers

12

Nine V A M Knoers

0 references

Sarina G. Kant

10

Sarina G Kant

0 references

Liesbeth Spruijt

4

Liesbeth Spruijt

0 references

Marloes Steehouwer

8

Marloes Steehouwer

0 references

author name string

Heleen H Arts

2

0 references

Dorus A Mans

5

0 references

Bart van Lier

7

0 references

Ronald Roepman

American Journal of Human Genetics

11

0 references

language of work or name

English

0 references

publication date

10 September 2010

0 references

published in

0 references

volume

87

0 references

page(s)

418-23

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issue

3

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cites work

Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933349

Targeted capture and massively parallel sequencing of 12 human exomes

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933349

DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933349

The diploid genome sequence of an Asian individual

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933349

The intraflagellar transport machinery of Chlamydomonas reinhardtii

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933349

Cochlear and retinal degeneration in the tubby mouse

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933349

Tubby-like protein 3 (TULP3) regulates patterning in the mouse embryo through inhibition of Hedgehog signaling

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933349

Retinal degeneration but not obesity is observed in null mutants of the tubby-like protein 1 gene

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933349

Tulp3 is a critical repressor of mouse hedgehog signaling

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933349

Human non-synonymous SNPs: server and survey

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933349

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933349

Decoding cilia function: defining specialized genes required for compartmentalized cilia biogenesis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933349

Detection of nonneutral substitution rates on mammalian phylogenies

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933349

Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome

24 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933349

Ciliary biology: understanding the cellular and genetic basis of human ciliopathies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933349

Making sense of cilia in disease: the human ciliopathies.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933349

Single-molecule sequencing of an individual human genome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933349

IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933349

New syndrome of skeletal, dental and hair anomalies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933349

Expanded phenotype of cranioectodermal dysplasia (Sensenbrenner syndrome)

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933349

A heritable syndrome of craniosynostosis, short thin hair, dental abnormalities, and short limbs: cranioectodermal dysplasia

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933349

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933349

Fat (fat) and tubby (tub): two autosomal recessive mutations causing obesity syndromes in the mouse

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20817137

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2010.08.004

1 reference

release_7oljf7imgjfrdk5xzrhevzuixm

1499805

Fatcat ID

0 references

1499805

1 reference

1 reference

1 reference