(Q24645415)

16

0 references

Martine Le Merrer

14

0 references

Arnold Munnich

15

0 references

Anne-Lise Delezoide

12

0 references

Celine Huber

object named as

Céline Huber

7

0 references

author name string

Nathalie Dagoneau

1

0 references

Marie Goulet

2

0 references

David Geneviève

3

0 references

Yves Sznajer

4

0 references

Jelena Martinovic

5

0 references

Sarah Smithson

6

0 references

Geneviève Baujat

8

0 references

Elisabeth Flori

9

0 references

Laura Tecco

10

0 references

Denise Cavalcanti

11

0 references

Valérie Serre

American Journal of Human Genetics

13

0 references

language of work or name

English

0 references

publication date

May 2009

0 references

published in

0 references

volume

84

0 references

issue

5

0 references

page(s)

706-11

0 references

cites work

Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681009

Genetic analysis of the cytoplasmic dynein subunit families

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681009

A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681009

Structure and Functional Role of Dynein's Microtubule-Binding Domain

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681009

The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681009

Cytoplasmic dynein heavy chain 1b is required for flagellar assembly in Chlamydomonas

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681009

Intraflagellar transport, cilia, and mammalian Hedgehog signaling: analysis in mouse embryonic fibroblasts

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681009

Knockdown of the intraflagellar transport protein IFT46 stimulates selective gene expression in mouse chondrocytes and affects early development in zebrafish

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681009

Human non-synonymous SNPs: server and survey

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681009

NPS@: network protein sequence analysis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681009

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681009

Intraflagellar transport is essential for endochondral bone formation.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681009

Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19442771

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Three conditions in neonatal asphyxiating thoracic dysplasia (Jeune) and short rib-polydactyly syndrome spectrum: a clinicopathologic study

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19442771

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Nosology and classification of genetic skeletal disorders: 2006 revision

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19442771

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2009.04.016

1 reference

1 reference

1 reference

PubMed publication ID

19442771

1 reference