Spectrum of mutations that cause distal arthrogryposis types 1 and 2B (Q86097233)

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scientific article published on 07 February 2013

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Language	Label	Description	Also known as
English	Spectrum of mutations that cause distal arthrogryposis types 1 and 2B	scientific article published on 07 February 2013

Statements

instance of

scholarly article

1 reference

stated in

Europe PubMed Central

PMC publication ID

3581718

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23401156%20AND%20SRC:MED&resulttype=core&format=json

retrieved

23 February 2020

title

Spectrum of mutations that cause distal arthrogryposis types 1 and 2B (English)

1 reference

stated in

Europe PubMed Central

PMC publication ID

3581718

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23401156%20AND%20SRC:MED&resulttype=core&format=json

retrieved

23 February 2020

main subject

distal arthrogryposis

1 reference

based on heuristic

inferred from title

author name string

Anita E Beck

series ordinal

1

1 reference

stated in

Europe PubMed Central

PMC publication ID

3581718

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23401156%20AND%20SRC:MED&resulttype=core&format=json

retrieved

23 February 2020

Margaret J McMillin

series ordinal

2

1 reference

stated in

Europe PubMed Central

PMC publication ID

3581718

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23401156%20AND%20SRC:MED&resulttype=core&format=json

retrieved

23 February 2020

Heidi I S Gildersleeve

series ordinal

3

1 reference

stated in

Europe PubMed Central

PMC publication ID

3581718

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23401156%20AND%20SRC:MED&resulttype=core&format=json

retrieved

23 February 2020

Phillip R Kezele

series ordinal

4

1 reference

stated in

Europe PubMed Central

PMC publication ID

3581718

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23401156%20AND%20SRC:MED&resulttype=core&format=json

retrieved

23 February 2020

Kathryn M Shively

series ordinal

5

1 reference

stated in

Europe PubMed Central

PMC publication ID

3581718

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23401156%20AND%20SRC:MED&resulttype=core&format=json

retrieved

23 February 2020

John C Carey

series ordinal

6

1 reference

stated in

Europe PubMed Central

PMC publication ID

3581718

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23401156%20AND%20SRC:MED&resulttype=core&format=json

retrieved

23 February 2020

Michael Regnier

series ordinal

7

1 reference

stated in

Europe PubMed Central

PMC publication ID

3581718

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23401156%20AND%20SRC:MED&resulttype=core&format=json

retrieved

23 February 2020

Michael J Bamshad

series ordinal

8

1 reference

stated in

Europe PubMed Central

PMC publication ID

3581718

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23401156%20AND%20SRC:MED&resulttype=core&format=json

retrieved

23 February 2020

publication date

7 February 2013

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stated in

Europe PubMed Central

PMC publication ID

3581718

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23401156%20AND%20SRC:MED&resulttype=core&format=json

retrieved

23 February 2020

published in

American Journal of Medical Genetics

1 reference

stated in

Europe PubMed Central

PMC publication ID

3581718

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23401156%20AND%20SRC:MED&resulttype=core&format=json

retrieved

23 February 2020

volume

161A

1 reference

stated in

Europe PubMed Central

PMC publication ID

3581718

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23401156%20AND%20SRC:MED&resulttype=core&format=json

retrieved

23 February 2020

issue

3

1 reference

stated in

Europe PubMed Central

PMC publication ID

3581718

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23401156%20AND%20SRC:MED&resulttype=core&format=json

retrieved

23 February 2020

page(s)

550-555

1 reference

stated in

Europe PubMed Central

PMC publication ID

3581718

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23401156%20AND%20SRC:MED&resulttype=core&format=json

retrieved

23 February 2020

cites work

Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23401156

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23401156

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation of perinatal myosin heavy chain associated with a Carney complex variant

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23401156

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A revised and extended classification of the distal arthrogryposes

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23401156

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Distal arthrogryposis type 1: clinical analysis of a large kindred

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23401156

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23401156

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B)

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23401156

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A TNNI2 mutation in a family with distal arthrogryposis type 2B.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23401156

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23401156

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23401156

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23401156

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23401156

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23401156

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel mutation in TNNT3 associated with Sheldon-Hall syndrome in a Chinese family with vertical talus

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23401156

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23401156

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1002/AJMG.A.35809

1 reference

stated in

Europe PubMed Central

PMC publication ID

3581718

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23401156%20AND%20SRC:MED&resulttype=core&format=json

retrieved

23 February 2020

PMC publication ID

3581718

1 reference

stated in

Europe PubMed Central

PMC publication ID

3581718

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23401156%20AND%20SRC:MED&resulttype=core&format=json

retrieved

23 February 2020

PubMed publication ID

23401156

1 reference

stated in

Europe PubMed Central

PMC publication ID

3581718

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23401156%20AND%20SRC:MED&resulttype=core&format=json

retrieved

23 February 2020

 

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