(Q33683393)

28 July 2017

title

Discordant segregation of Xq28 markers and a mutation in the L1 gene in a family with X linked hydrocephalus (English)

1 reference

28 July 2017

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Jouet M

1

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28 July 2017

Strain L

series ordinal

2

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28 July 2017

Bonthron D

series ordinal

3

1 reference

28 July 2017

Kenwrick S

series ordinal

4

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28 July 2017

language of work or name

English

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publication date

1 March 1996

1 reference

Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

33

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28 July 2017

issue

3

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28 July 2017

page(s)

248-250

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

28 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=1051879

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051879

Genetic heterogeneity in X-linked hydrocephalus: linkage to markers within Xq27.3.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051879

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051879

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051879

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051879

Somatic origin of inherited haemophilia A.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051879

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051879

Further localization of X-linked hydrocephalus in the chromosomal region Xq28

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051879

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051879

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051879

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051879

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051879

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

30 October 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Gene analysis of L1 neural cell adhesion molecule in prenatal diagnosis of hydrocephalus

1 reference

12 December 2020

Assignment of X-linked hydrocephalus to Xq28 by linkage analysis

1 reference

12 December 2020

Genetic counselling on brittle grounds: recurring osteogenesis imperfecta due to parental mosaicism for a dominant mutation

1 reference

12 December 2020

A 2D crossover-based map of the human X chromosome as a model for map integration

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.33.3.248

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28 July 2017

1 reference

28 July 2017

1 reference