(Q47863070)

6 February 2018

title

Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease. (English)

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6 February 2018

author name string

Finckh U

1

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6 February 2018

Schröder J

2

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6 February 2018

Ressler B

3

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6 February 2018

Veske A

4

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6 February 2018

Gal A

5

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6 February 2018

publication date

1 May 2000

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6 February 2018

American Journal of Medical Genetics Part A

published in

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6 February 2018

volume

92

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6 February 2018

page(s)

40-46

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6 February 2018

issue

1

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6 February 2018

Pathological missense mutations of neural cell adhesion molecule L1 affect homophilic and heterophilic binding activities.

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000501%2992%3A1%3C40%3A%3AAID-AJMG7%3E3.0.CO%3B2-R

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000501%2992%3A1%3C40%3A%3AAID-AJMG7%3E3.0.CO%3B2-R

L1-associated diseases: clinical geneticists divide, molecular geneticists unite.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000501%2992%3A1%3C40%3A%3AAID-AJMG7%3E3.0.CO%3B2-R

Genotype-phenotype correlation in L1 associated diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000501%2992%3A1%3C40%3A%3AAID-AJMG7%3E3.0.CO%3B2-R

Five novel mutations in the L1CAM gene in families with X linked hydrocephalus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000501%2992%3A1%3C40%3A%3AAID-AJMG7%3E3.0.CO%3B2-R

How sensitive is PCR-SSCP?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000501%2992%3A1%3C40%3A%3AAID-AJMG7%3E3.0.CO%3B2-R

The human gene mutation database

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000501%2992%3A1%3C40%3A%3AAID-AJMG7%3E3.0.CO%3B2-R

A binding site for homeodomain and Pax proteins is necessary for L1 cell adhesion molecule gene expression by Pax-6 and bone morphogenetic proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000501%2992%3A1%3C40%3A%3AAID-AJMG7%3E3.0.CO%3B2-R

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000501%2992%3A1%3C40%3A%3AAID-AJMG7%3E3.0.CO%3B2-R

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000501%2992%3A1%3C40%3A%3AAID-AJMG7%3E3.0.CO%3B2-R

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000501%2992%3A1%3C40%3A%3AAID-AJMG7%3E3.0.CO%3B2-R

Congenital hydrocephalus: nosology and guidelines for clinical approach and genetic counselling

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000501%2992%3A1%3C40%3A%3AAID-AJMG7%3E3.0.CO%3B2-R

CRASH syndrome: mutations in L1CAM correlate with severity of the disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000501%2992%3A1%3C40%3A%3AAID-AJMG7%3E3.0.CO%3B2-R

Differential effects of two hydrocephalus/MASA syndrome-related mutations on the homophilic binding and neuritogenic activities of the cell adhesion molecule L1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000501%2992%3A1%3C40%3A%3AAID-AJMG7%3E3.0.CO%3B2-R

10.1002/(SICI)1096-8628(20000501)92:1<40::AID-AJMG7>3.0.CO;2-R

21 January 2018

Identifiers

DOI

1 reference

6 February 2018

PubMed ID

10797421

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6 February 2018