(Q24307279)

endochondral ossification

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Valérie Cormier-Daire

16

0 references

Martine Le Merrer

14

0 references

Arnold Munnich

15

0 references

Andrea Superti-Furga

12

0 references

Anne-Lise Delezoide

13

0 references

Christine Bôle-Feysot

4

0 references

Patrick Nitschké

8

Patrick Nitschke

0 references

Celine Huber

Céline Huber

1

0 references

Deborah Bartholdi

3

Deborah Bartholdi

0 references

Joelle Roume

9

Joelle Roume

0 references

author name string

Eissa Ali Faqeih

2

0 references

Zvi Borochowitz

5

0 references

Denise P Cavalcanti

6

0 references

Amandine Frigo

7

0 references

Patrick Nitschke

8

0 references

Heloísa G Santos

10

0 references

Stavit A Shalev

American Journal of Human Genetics

11

0 references

language of work or name

English

0 references

publication date

10 January 2013

0 references

published in

0 references

volume

92

0 references

issue

1

0 references

page(s)

144-9

0 references

cites work

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542463

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542463

The Sequence Alignment/Map format and SAMtools

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542463

Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542463

Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542463

Absence of the lipid phosphatase SHIP2 confers resistance to dietary obesity

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542463

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542463

The role of the inositol polyphosphate 5-phosphatases in cellular function and human disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542463

The SH2 domain containing inositol polyphosphate 5-phosphatase-2: SHIP2.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542463

Mutations in SBDS are associated with Shwachman-Diamond syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542463

Opsismodysplasia: another case and literature review

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542463

Four recently described osteochondrodysplasias

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542463

Opsismodysplasia: a new type of chondrodysplasia with predominant involvement of the bones of the hand and the vertebrae

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542463

A unique chondrodysplasia secondary to a defect in chondroosseous transformation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542463

Nosology and classification of genetic skeletal disorders: 2010 revision.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542463

Impact of SRC homology 2-containing inositol 5'-phosphatase 2 gene polymorphisms detected in a Japanese population on insulin signaling.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542463

Clinical, radiological, and chondro-osseous findings in opsismodysplasia: survey of a series of 12 unreported cases

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542463