(Q88128553)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24953221%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

title

Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1 (English)

1 reference

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University of Washington Center for Mendelian Genomics

21 March 2020

author

5

object named as

University of Washington Center for Mendelian Genomics

1 reference

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21 March 2020

7

Ralph S Lachman

1 reference

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21 March 2020

3

Deborah A Nickerson

1 reference

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21 March 2020

author name string

Bing Li

1

1 reference

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21 March 2020

Deborah Krakow

2

1 reference

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21 March 2020

Michael J Bamshad

4

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21 March 2020

Yong Chang

6

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21 March 2020

Alev Yilmaz

8

1 reference

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21 March 2020

Hülya Kayserili

9

1 reference

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21 March 2020

Daniel H Cohn

10

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21 March 2020

publication date

20 June 2014

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American Journal of Medical Genetics

21 March 2020

published in

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21 March 2020

volume

164A

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21 March 2020

issue

9

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21 March 2020

page(s)

2407-2411

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SH2-containing inositol 5'-phosphatase SHIP2 associates with the p130(Cas) adapter protein and regulates cellular adhesion and spreading

21 March 2020

cites work

1 reference

12 December 2020

Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia.

1 reference

12 December 2020

A unique chondrodysplasia secondary to a defect in chondroosseous transformation

1 reference

12 December 2020

Four recently described osteochondrodysplasias

1 reference

12 December 2020

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

1 reference

12 December 2020

Additional case of opsismodysplasia supporting autosomal recessive inheritance

1 reference

12 December 2020

Opsismodysplasia: another case and literature review

1 reference

12 December 2020

Modular peptide recognition domains in eukaryotic signaling

1 reference

12 December 2020

Five familial cases of opsismodysplasia substantiate the hypothesis of autosomal recessive inheritance

1 reference

12 December 2020

Absence of the lipid phosphatase SHIP2 confers resistance to dietary obesity

1 reference

12 December 2020

The SH2-domian-containing inositol 5-phosphatase (SHIP)-2 binds to c-Met directly via tyrosine residue 1356 and involves hepatocyte growth factor (HGF)-induced lamellipodium formation, cell scattering and cell spreading

1 reference

12 December 2020

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

1 reference

12 December 2020

The human and mouse complement of SH2 domain proteins-establishing the boundaries of phosphotyrosine signaling

1 reference

12 December 2020

Developmental defects and rescue from glucose intolerance of a catalytically-inactive novel Ship2 mutant mouse.

1 reference

12 December 2020

Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia

1 reference

12 December 2020

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia

1 reference

12 December 2020

Role of phosphatidylinositol 3,4,5-trisphosphate in cell signaling

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.A.36640

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24953221%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

1 reference

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21 March 2020

PubMed publication ID

24953221

1 reference