(Q35194701)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503440%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

title

Linkage mapping of a severe X-linked mental retardation syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503440%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

author name string

Malmgren H

1

1 reference

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13 October 2019

Sundvall M

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503440%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

Dahl N

3

1 reference

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13 October 2019

Gustavson KH

4

1 reference

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13 October 2019

Annerén G

5

1 reference

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13 October 2019

Wadelius C

6

1 reference

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13 October 2019

Steén-Bondeson ML

7

1 reference

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13 October 2019

Pettersson U

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503440%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

language of work or name

English

0 references

publication date

1 June 1993

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503440%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

13 October 2019

published in

1 reference

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13 October 2019

volume

52

1 reference

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13 October 2019

issue

6

1 reference

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13 October 2019

page(s)

1046-1052

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503440%20AND%20SRC:MED&resulttype=core&format=json

New X-linked syndrome with severe mental retardation, severely impaired vision, severe hearing defect, epileptic seizures, spasticity, restricted joint mobility, and early death

13 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682275

Easy calculations of lod scores and genetic risks on small computers

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682275

A strategy to reveal high-frequency RFLPs along the human X chromosome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682275

Regional localization on the human X chromosome and polymorphism of the coagulation factor IX gene (hemophilia B locus).

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682275

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682275

The telomeric region of the human X chromosome long arm: presence of a highly polymorphic DNA marker and analysis of recombination frequency

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682275

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682275

Five polymorphic microsatellite VNTRs on the human X chromosome.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682275

Guidelines for human linkage maps. An International System for Human Linkage Maps (ISLM, 1990).

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682275

Fragile X syndrome: diagnosis using highly polymorphic microsatellite markers

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682275

New X-linked mental retardation disorder with Dandy-Walker malformation, basal ganglia disease, and seizures

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682275

Computerized approach to X-linked mental retardation syndromes.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682275

Dinucleotide repeat polymorphisms at the DXS453, DXS454 and DXS458 loci

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682275

Tetranucleotide repeat polymorphism at the HPRT locus

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682275

Dinucleotide repeat polymorphisms at the DXS294 and DXS300 loci in Xq26.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682275

Linkage of the gene for an X-linked mental retardation disorder to a hypervariable (AGAT)n repeat motif within the human hypoxanthine phosphoribosyltransferase (HPRT) locus (Xq26)

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682275

Yeast artificial chromosomes spanning 8 megabases and 10-15 centimorgans of human cytogenetic band Xq26.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682275

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682275

13 July 2018

XLMR genes: update 1992.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682275

Detection of specific sequences among DNA fragments separated by gel electrophoresis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682275

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682275

Börjeson-Forssman-Lehmann syndrome: clinical manifestations and gene localization to Xq26-27.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682275

Occurrence of a transposition from the X-chromosome long arm to the Y-chromosome short arm during human evolution

27 September 2018

1 reference

12 December 2020

Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs

1 reference

12 December 2020

Regional localization of polymorphic DNA loci on the proximal long arm of the X chromosome using deletions associated with choroideremia

1 reference

12 December 2020

X linked mental retardation

1 reference

12 December 2020

Genetic mapping of four dinucleotide repeat loci, DXS453, DXS458, DXS454, and DXS424, on the X chromosome using multiplex polymerase chain reaction

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503440%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

PubMed publication ID

8503440

1 reference