(Q33593878)

English

MASA syndrome (a form of complicated spastic paraplegia) and X linked hydrocephalus: variable expression of the same mutation at Xq28? Call for families

scientific article published on March 1, 1992

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

MASA syndrome (a form of complicated spastic paraplegia) and X linked hydrocephalus: variable expression of the same mutation at Xq28? Call for families (English)

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

0 references

1 reference

based on heuristic

inferred from title

author name string

Schrander-Stumpel C

1

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

C. Schrander-Stumpel

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1552562

8 October 2022

J. Fryns

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1552562

8 October 2022

J. J. Cassiman

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1552562

8 October 2022

E. Legius

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1552562

8 October 2022

A. Spaepen

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1552562

8 October 2022

C. J. Höweler

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1552562

8 October 2022

language of work or name

0 references

publication date

1 March 1992

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

full work available at URL

https://europepmc.org/articles/PMC1015907

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1552562

8 October 2022

https://europepmc.org/articles/PMC1015907?pdf=render

Portable Document Format

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1552562

8 October 2022

Journal of Medical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

29

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

3

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

215

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

The syndrome of sex-linked hydrocephalus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015907

21 June 2018

Mental retardation-clasped thumb syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015907

21 June 2018

X-linked mental retardation associated with bilateral clasp thumb anomaly.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015907

21 June 2018

X-linked mental retardation and-or hydrocephalus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015907

21 June 2018

The MASA syndrome: a new heritable mental retardation syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015907

21 June 2018

X linked hydrocephalus: a survey of a 20 year period in Victoria, Australia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015907

21 June 2018

Linkage studies of X-linked recessive spastic paraplegia using DNA probes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015907

21 June 2018

MASA syndrome: further clinical delineation and chromosomal localisation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015907

21 June 2018

MASA syndrome: new clinical features and linkage analysis using DNA probes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015907

21 June 2018

X linked complicated spastic paraplegia, MASA syndrome, and X linked hydrocephalus owing to congenital stenosis of the aqueduct of Sylvius: variable expression of the same mutation at Xq28

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015907

21 June 2018

X-linked hydrocephalus

1 reference

https://pubmed.ncbi.nlm.nih.gov/1552562

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked recessive aqueductal stenosis without macrocephaly

1 reference

https://pubmed.ncbi.nlm.nih.gov/1552562

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.29.3.215-A

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

0 references

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