(Q24517895)

2 July 2017

title

Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS. (English)

1 reference

2 July 2017

1 reference

Ruiz JC

1

1 reference

2 July 2017

Cuppens H

2

1 reference

2 July 2017

Legius E

3

1 reference

2 July 2017

Fryns JP

4

1 reference

2 July 2017

Glover T

5

1 reference

2 July 2017

Marynen P

6

1 reference

2 July 2017

Cassiman JJ

7

1 reference

2 July 2017

language of work or name

English

0 references

publication date

1 July 1995

1 reference

Journal of Medical Genetics

2 July 2017

published in

1 reference

2 July 2017

volume

32

1 reference

2 July 2017

issue

7

1 reference

2 July 2017

page(s)

549-552

1 reference

X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene

2 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050549

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050549

Molecular structure and functional testing of human L1CAM: an interspecies comparison

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050549

Identification of a chromosome 18q gene that is altered in colorectal cancers

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050549

Variants of human L1 cell adhesion molecule arise through alternate splicing of RNA.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050549

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050549

Glycosylation of neural cell adhesion molecules of the immunoglobulin superfamily

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050549

Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050549

A duplication in the L1CAM gene associated with X-linked hydrocephalus

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050549

Clinical aspects of the MASA syndrome in a large family, including expressing females.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050549

X-linked mental retardation with bilateral clasped thumbs: report of another affected family

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050549

Fine mapping of X-linked clasped thumb and mental retardation (MASA syndrome) in Xq28.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050549

MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050549

A missense mutation confirms the L1 defect in X-linked hydrocephalus (HSAS)

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7562969

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7562969

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A year in the life of the immunoglobulin superfamily

1 reference

Crossref

https://api.crossref.org/works/10.1136%2FJMG.32.7.549

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1136/JMG.32.7.549

1 reference

2 July 2017

0 references

1 reference