(Q41127100)

27 September 2017

title

The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule (English)

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27 September 2017

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3

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27 September 2017

Fransen E

1

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27 September 2017

Vits L

series ordinal

2

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27 September 2017

Willems PJ

series ordinal

4

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27 September 2017

publication date

1 July 1996

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American Journal of Medical Genetics Part A

27 September 2017

published in

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27 September 2017

volume

64

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27 September 2017

issue

1

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27 September 2017

page(s)

73-77

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The MASA syndrome: A new heritable mental retardation syndrome

27 September 2017

cites work

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https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C73%3A%3AAID-AJMG11%3E3.0.CO%3B2-P

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C73%3A%3AAID-AJMG11%3E3.0.CO%3B2-P

X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C73%3A%3AAID-AJMG11%3E3.0.CO%3B2-P

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

21 January 2018

1 reference

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New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C73%3A%3AAID-AJMG11%3E3.0.CO%3B2-P

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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1994 ASHG presidential address. Who are we? Where are we going? Anticipating the 21st century

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C73%3A%3AAID-AJMG11%3E3.0.CO%3B2-P

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C73%3A%3AAID-AJMG11%3E3.0.CO%3B2-P

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

21 January 2018

1 reference

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Activation of the FGF receptor underlies neurite outgrowth stimulated by L1, N-CAM, and N-cadherin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C73%3A%3AAID-AJMG11%3E3.0.CO%3B2-P

MASA syndrome: further clinical delineation and chromosomal localisation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C73%3A%3AAID-AJMG11%3E3.0.CO%3B2-P

10.1002/(SICI)1096-8628(19960712)64:1<73::AID-AJMG11>3.0.CO;2-P

21 January 2018

Identifiers

DOI

1 reference

27 September 2017

1 reference