(Q74801194)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9674906%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

title

Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: a case for "lumping" (English)

1 reference

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13 November 2019

main subject

Stüve-Wiedemann syndrome

1 reference

A Superti-Furga

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9674906%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

R Tenconi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9674906%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

M Clementi

3

1 reference

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13 November 2019

G Eich

4

1 reference

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13 November 2019

B Steinmann

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9674906%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

E Boltshauser

6

1 reference

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13 November 2019

A Giedion

7

1 reference

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13 November 2019

publication date

1 June 1998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9674906%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part A

13 November 2019

published in

1 reference

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13 November 2019

volume

78

1 reference

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13 November 2019

issue

2

1 reference

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13 November 2019

page(s)

150-154

1 reference

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

13 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980630%2978%3A2%3C150%3A%3AAID-AJMG10%3E3.0.CO%3B2-M

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/10.1002%2F%28SICI%291096-8628%2819980630%2978%3A2%3C150%3A%3AAID-AJMG10%3E3.0.CO%3B2-M

Stüve-Wiedemann syndrome and defects of the mitochondrial respiratory chain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980630%2978%3A2%3C150%3A%3AAID-AJMG10%3E3.0.CO%3B2-M

Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980630%2978%3A2%3C150%3A%3AAID-AJMG10%3E3.0.CO%3B2-M

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980630%2978%3A2%3C150%3A%3AAID-AJMG10%3E3.0.CO%3B2-M

Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980630%2978%3A2%3C150%3A%3AAID-AJMG10%3E3.0.CO%3B2-M

Prenatal diagnosis of Schwartz-Jampel syndrome with early manifestation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980630%2978%3A2%3C150%3A%3AAID-AJMG10%3E3.0.CO%3B2-M

Stüve-Wiedemann dysplasia in a 3 1/2-year-old boy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980630%2978%3A2%3C150%3A%3AAID-AJMG10%3E3.0.CO%3B2-M

On lumpers and splitters, or the nosology of genetic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980630%2978%3A2%3C150%3A%3AAID-AJMG10%3E3.0.CO%3B2-M

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/10.1002%2F%28SICI%291096-8628%2819980630%2978%3A2%3C150%3A%3AAID-AJMG10%3E3.0.CO%3B2-M

10.1002/(SICI)1096-8628(19980630)78:2<150::AID-AJMG10>3.0.CO;2-M

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9674906%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

1 reference