(Q48235944)

9 February 2018

title

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

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9 February 2018

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4

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9 February 2018

Arnold Munnich

8

object named as

Munnich A

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9 February 2018

Van Camp G

1

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9 February 2018

Vits L

2

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9 February 2018

Coucke P

3

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9 February 2018

Schrander-Stumpel C

5

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9 February 2018

Darby J

6

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9 February 2018

Holden J

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9 February 2018

Willems PJ

9

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9 February 2018

language of work or name

English

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publication date

1 August 1993

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9 February 2018

published in

Nature Genetics

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9 February 2018

volume

4

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9 February 2018

issue

4

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9 February 2018

page(s)

421-425

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9 February 2018

https://scigraph.springernature.com/pub.10.1038/ng0893-421

exact match

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cites work

Molecular cloning of cDNA encoding the rat neural cell adhesion molecule L1. Two L1 isoforms in the cytoplasmic region are produced by differential splicing.

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-421

Cell adhesion molecule L1 guides cell migration in primary reaggregation cultures of mouse cerebellar cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-421

Calcium influx into neurons can solely account for cell contact-dependent neurite outgrowth stimulated by transfected L1

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-421

X-Linked congenital hydrocephalus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-421

Recurrence risks for congenital hydrocephalus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-421

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-421

7 January 2021

X-linked hydrocephalus

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-421

7 January 2021

X-linked hydrocephalus: clinical heterogeneity at a single gene locus.

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-421

7 January 2021

Aqueductal Stenosis in X-Linked Hydrocephalus: a Secondary Phenomenon?

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-421

7 January 2021

Sex-linked hydrocephalus. Report of a family with 15 affected members

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-421

7 January 2021

Assignment of X-linked hydrocephalus to Xq28 by linkage analysis

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-421

7 January 2021

The gene for X-linked hydrocephalus maps to Xq28, distal to DXS52.

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-421

7 January 2021

Refining the genetic location of the gene for X linked hydrocephalus within Xq28.

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-421

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-421

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-421

7 January 2021

PCR walking from microdissection clone M54 identifies three exons from the human gene for the neural cell adhesion molecule L1 (CAM-L1)

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-421

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-421

7 January 2021

Isolation and sequence of partial cDNA clones of human L1: homology of human and rodent L1 in the cytoplasmic region

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-421

7 January 2021

L1-mediated axon outgrowth occurs via a homophilic binding mechanism

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-421

7 January 2021

Prenatal diagnosis of X linked hydrocephalus without aqueductal stenosis

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-421

7 January 2021

Identifiers

DOI

10.1038/NG0893-421

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9 February 2018

Dimensions Publication ID

1012293423

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1 reference

9 February 2018