Genetic heterogeneity in X-linked hydrocephalus: linkage to markers within Xq27.3. (Q35889112)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8304340%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

title

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

1 reference

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29 October 2019

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4

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29 October 2019

author name string

Strain L

series ordinal

1

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29 October 2019

Gosden CM

series ordinal

2

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29 October 2019

Brock DJ

series ordinal

3

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29 October 2019

language of work or name

English

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publication date

1 February 1994

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American Journal of Human Genetics

29 October 2019

published in

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29 October 2019

volume

54

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29 October 2019

issue

2

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29 October 2019

page(s)

236-243

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The syndrome of sex-linked hydrocephalus

29 October 2019

cites work

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

11 July 2018

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Easy calculations of lod scores and genetic risks on small computers

11 July 2018

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Genetic mapping of the human X chromosome by using restriction fragment length polymorphisms

11 July 2018

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Two anonymous X-specific human sequences detecting restriction fragment length polymorphisms in region Xq26?qter

11 July 2018

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

11 July 2018

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Hypervariable 'minisatellite' regions in human DNA.

11 July 2018

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Genetic mapping of the human X chromosome: linkage analysis of the q26-q28 region that includes the fragile X locus and isolation of expressed sequences.

11 July 2018

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A simple salting out procedure for extracting DNA from human nucleated cells

11 July 2018

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Genetic mapping of the Xq27-q28 region: new RFLP markers useful for diagnostic applications in fragile-X and hemophilia-B families

11 July 2018

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MASA syndrome: further clinical delineation and chromosomal localisation

11 July 2018

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A new DNA marker tightly linked to the fragile X locus (FRAXA).

11 July 2018

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A polymorphic locus at Xq27-28 detected by the probe U6.2 [DXS304]

11 July 2018

1 reference

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

11 July 2018

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Repeat unit multipriming and hybridisation--a novel method for the production of DNA fingerprints using minisatellite probes

11 July 2018

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Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome

11 July 2018

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A new marker at DXS 115 useful for carrier detection in hemophilia A.

11 July 2018

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Physical and genetic mapping of polymorphic loci in Xq28 (DXS15, DXS52, and DXS134): analysis of a cosmid clone and a yeast artificial chromosome

11 July 2018

1 reference

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New polymorphic DNA marker close to the fragile site FRAXA.

11 July 2018

1 reference

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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

11 July 2018

1 reference

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Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

11 July 2018

1 reference

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Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site

11 July 2018

1 reference

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Haemophilia A diagnosis by analysis of a hypervariable dinucleotide repeat within the factor VIII gene

11 July 2018

1 reference

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918160

Clasped-thumb mental retardation (MASA) syndrome: confirmation of linkage to Xq28.

11 July 2018

1 reference

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Characterization of a highly polymorphic dinucleotide repeat 150 KB proximal to the fragile X site

11 July 2018

1 reference

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

11 July 2018

1 reference

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

11 July 2018

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

11 July 2018

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11 July 2018

Sex-linked Hydrocephalus

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Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation

11 July 2018

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

24 September 2018

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12 December 2020

Improved DNA markers for efficient analysis of fragile X families

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12 December 2020

On fully automatic feature measurement for banded chromosome classification

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12 December 2020

Assignment of X-linked hydrocephalus to Xq28 by linkage analysis

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12 December 2020

Genetic mapping of new RFLPs at Xq27–q28

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12 December 2020

A simple scheme for the analysis of HLA linkages in pedigrees

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12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8304340%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

1 reference