(Q33679300)

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

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Stüve-Wiedemann syndrome

1 reference

based on heuristic

inferred from title

author name string

K A Brown

1

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

L I al-Gazali

2

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

L M Moynihan

3

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

N J Lench

4

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

A F Markham

5

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

R F Mueller

6

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

language of work or name

0 references

publication date

1 August 1997

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

34

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

8

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

685-687

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Neonatal Schwartz-Jampel syndrome: a common autosomal recessive syndrome in the United Arab Emirates

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051035

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051035

21 June 2018

Neonatal manifestations of Schwartz-Jampel syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051035

21 June 2018

Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051035

21 June 2018

Evidence for genetic heterogeneity of malignant hyperthermia susceptibility

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051035

21 June 2018

A case of Schwartz-Jampel syndrome with unusual muscle biopsy findings

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051035

21 June 2018

Malignant hyperpyrexia in a patient with Schwartz-Jampel syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051035

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051035

21 June 2018

Schwartz-Jampel syndrome in two daughters of first cousins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051035

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051035

30 October 2018

Chondrodystrophic myotonia: report of two cases. Myotonia, dwarfism, diffuse bone disease, and unusual ocular and facial abnormalities

1 reference

https://pubmed.ncbi.nlm.nih.gov/9279765

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Schwartz-Jampel syndrome. Its clinical, physiological and histological expressions

1 reference

https://pubmed.ncbi.nlm.nih.gov/9279765

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital myopathy with oculo-facial and skeletal abnormalities

1 reference

https://pubmed.ncbi.nlm.nih.gov/9279765

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Schwartz-Jampel syndrome. Description of a case with neonatal manifestations and a review of literature

1 reference

https://pubmed.ncbi.nlm.nih.gov/9279765

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis of Schwartz-Jampel syndrome with early manifestation

1 reference

https://pubmed.ncbi.nlm.nih.gov/9279765

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Schwartz-Jampel syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9279765

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recessive Schwartz-Jampel syndrome (SJS): confirmation of linkage to chromosome 1p, evidence of genetic homogeneity and reduction of the SJS locus to a 3-cM interval

1 reference

https://pubmed.ncbi.nlm.nih.gov/9279765

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Osteo-chondro-muscular dystrophy. A disorder manifested by multiple skeletal deformities, myotonia, and dystrophic changes in muscle

1 reference

https://pubmed.ncbi.nlm.nih.gov/9279765

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.34.8.685

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

ResearchGate publication ID

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