(Q38010516)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22591433%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

title

Schwartz-Jampel syndrome: a review of the literature and case report (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22591433%20AND%20SRC:MED&resulttype=core&format=json

Sreekanth Kumar Mallineni

1 February 2020

author

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22591433%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Yiu CK

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22591433%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

author name string

Nigel M King

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22591433%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

publication date

26 April 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22591433%20AND%20SRC:MED&resulttype=core&format=json

Special Care in Dentistry

1 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22591433%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

volume

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22591433%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22591433%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

page(s)

105-111

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22591433%20AND%20SRC:MED&resulttype=core&format=json

Myotonia, dwarfism, diffuse bone disease and unusual ocular and facial abnormalities (a new syndrome).

1 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1754-4505.2012.00249.X

Congenital blepharophimosis associated with a unique generalized myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1754-4505.2012.00249.X

Schwartz-Jampel syndrome. Clinical, electrophysiological and histopathological study of a severe variant

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1754-4505.2012.00249.X

Continuous muscle fiber activity in the Schwartz-Jampel syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1754-4505.2012.00249.X

Schwartz-Jampel syndrome (chondrodystrophic myotonia)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1754-4505.2012.00249.X

Schwartz-Jampel syndrome in two daughters of first cousins

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1754-4505.2012.00249.X

Localization of the Schwartz-Jampel syndrome (SJS) locus to chromosome 1p34-p36.1 by homozygosity mapping.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1754-4505.2012.00249.X

Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1754-4505.2012.00249.X

Genetic heterogeneity in Schwartz-Jampel syndrome: two families with neonatal Schwartz-Jampel syndrome do not map to human chromosome 1p34-p36.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1754-4505.2012.00249.X

Disorders of human dentin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1754-4505.2012.00249.X

Dentinogenesis imperfecta-associated syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1754-4505.2012.00249.X

A proposed classification for heritable human dentine defects with a description of a new entity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1754-4505.2012.00249.X

Evaluation of oral problems in an osteogenesis imperfecta population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1754-4505.2012.00249.X

Malignant hyperpyrexia in a patient with Schwartz-Jampel syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1754-4505.2012.00249.X

Schwartz-Jampel syndrome: II. Na+ channel defect causes myotonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1754-4505.2012.00249.X

Resistance to rocuronium in a child with Schwartz-Jampel syndrome type 1 B.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1754-4505.2012.00249.X

A case of Schwartz-Jampel syndrome with cleft palate

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1754-4505.2012.00249.X

Genotype-phenotype correlations in human skeletal muscle sodium channel diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1754-4505.2012.00249.X

A new skeletal dysplasia: clinical, radiologic, and pathologic findings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1754-4505.2012.00249.X

Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1754-4505.2012.00249.X

Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1754-4505.2012.00249.X

Phenotypic variation in dentinogenesis imperfecta/dentin dysplasia linked to 4q21

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1754-4505.2012.00249.X

10.1111/J.1754-4505.2012.00249.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22591433%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

1 reference