(Q24306829)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17041932%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

title

Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17041932%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

1 reference

GOA release 2020-03-11

ATP metabolic process

1 reference

Trismus-pseudocamptodactyly syndrome

GOA release 2020-03-11

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17041932%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Hans van Bokhoven

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17041932%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

9

Lynn B Jorde

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17041932%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

6

Ben C J Hamel

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17041932%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

author name string

Harold Chen

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17041932%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Virginia K Proud

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17041932%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Rick Martin

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17041932%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Joep H Tuerlings

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17041932%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Constantine A Stratakis

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17041932%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Michael J Bamshad

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17041932%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

language of work or name

English

0 references

publication date

1 November 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17041932%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

20 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17041932%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

volume

140

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17041932%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

issue

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17041932%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

page(s)

2387-2393

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17041932%20AND%20SRC:MED&resulttype=core&format=json

Anaesthesia for Hecht Beals syndrome.

20 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.31495

Orthopaedic aspects of the trismus pseudocamptodactyly syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.31495

The distal arthrogryposes: delineation of new entities--review and nosologic discussion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.31495

7 January 2021

Linkage analysis with the trismus-pseudocamptodactyly syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.31495

7 January 2021

A revised and extended classification of the distal arthrogryposes

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.31495

7 January 2021

A family showing strongly reduced ability to open the mouth and limitation of some movements of the extremities

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.31495

7 January 2021

Anaesthetic implications of the trismus pseudocamptodactyly (Dutch-Kentucky or Hecht Beals) syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.31495

7 January 2021

Limited intermaxillary opening—An inherited trait

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.31495

7 January 2021

Limited mouth opening and shortened flexor muscle-tendon units: 'trismus-pseudocamptodactyly'.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.31495

7 January 2021

Trismus-pseudocampylodactyly syndrome: report of a case

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.31495

7 January 2021

Trismus pseudocamptodactyly syndrome: Dutch-Kentucky syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.31495

7 January 2021

Trismus-pseudocamptodactyly syndrome: presentation and genealogy of a new European case

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.31495

7 January 2021

Tracheal intubation in a child with trismus pseudocamptodactyly (Hecht) syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.31495

7 January 2021

Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.31495

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.31495

7 January 2021

Anaesthetic management of two paediatric patients with Hecht-Beals syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.31495

7 January 2021

Mutation of perinatal myosin heavy chain

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.31495

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.31495

7 January 2021

Congenital trismus secondary to masseteric fibrous bands: a 7-year follow-up report as an approach to management

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.31495

7 January 2021

Airway management in a patient with Hecht's syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.31495

7 January 2021

Surgical correction of trismus in a child with Hecht syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.31495

7 January 2021

Trismus-pseudocamptodactyly syndrome in a Japanese family

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.31495

7 January 2021

Trismus-pseudocamptodactyly syndrome (Hecht-Beals' syndrome): case report and literature review

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.31495

7 January 2021

Three-dimensional structure of myosin subfragment-1: a molecular motor

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.31495

7 January 2021

Structure of the actin-myosin complex and its implications for muscle contraction

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.31495

7 January 2021

The Trismus-Pseudocampylodactyly Syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.31495

7 January 2021

Identifiers

DOI

10.1002/AJMG.A.31495

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17041932%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

1 reference