(Q35195632)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1550125%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

title

Dystonia-parkinsonism syndrome (XDP) locus: flanking markers in Xq12-q21.1 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1550125

7 October 2022

1 reference

K. G. Kupke

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1550125

7 October 2022

M. B. Graeber

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1550125

7 October 2022

U. Müller

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1550125

7 October 2022

language of work or name

English

0 references

publication date

1 April 1992

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1550125%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

21 September 2019

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1550125/?tool=EBI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1550125

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1550125/pdf/?tool=EBI

7 October 2022

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1550125

https://europepmc.org/articles/PMC1682654

7 October 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1550125

https://europepmc.org/articles/PMC1682654?pdf=render

7 October 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1550125

American Journal of Human Genetics

7 October 2022

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1550125%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

volume

50

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1550125%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1550125%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

page(s)

808-815

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1550125%20AND%20SRC:MED&resulttype=core&format=json

"A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum

21 September 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682654

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682654

Single-copy sequence hybridizes to polymorphic and homologous loci on human X and Y chromosomes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682654

Nonuniform recombination within the human beta-globin gene cluster

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682654

An anonymous single-copy X-chromosome RFLP for DXS72 from Xq13-Xq22 [HGM8 provisional no. DXS72].

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682654

Moderately repeated DNA sequences specific for the short arm of the human Y chromosome are present in XX males and reduced in copy number in an XY female

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682654

Parkinson's disease in twins

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682654

Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682654

28 July 2018

Dopa-responsive dystonia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682654

Anderson Fabry disease, a close linkage with highly polymorphic DNA markers DXS17, DXS87 and DXS88.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682654

Anatomy and pathology of the basal ganglia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682654

A PstI RFLP detected by probe cpX73 (DXS159) in Xq11-q12.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682654

Efficient isolation of X chromosome-specific single-copy probes from a cosmid library of a human X/hamster hybrid-cell line: mapping of new probes close to the locus for X-linked mental retardation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682654

A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682654

Report of the committee on linkage and gene order

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682654

Identification of the cystic fibrosis gene: chromosome walking and jumping

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682654

Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682654

Human gene for torsion dystonia located on chromosome 9q32-q34.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682654

RFLPs in human X-linked PGK1: a new probe for the PstI RFLP demonstrates strong linkage disequilibrium with the BgII RFLP.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682654

Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682654

The genetics of primary torsion dystonia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682654

Cloning of a gene that is rearranged in patients with choroideraemia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682654

A large kindred with autosomal dominant Parkinson's disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682654

Homozygous deletion in Wilms tumours of a zinc-finger gene identified by chromosome jumping

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682654

Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682654

Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682654

A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682654

Genetic mapping of "Lubag" (X-linked dystonia-parkinsonism) in a Filipino kindred to the pericentromeric region of the X chromosome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682654

Detection of specific sequences among DNA fragments separated by gel electrophoresis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682654

Torsion dystonia in Panay, Philippines

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682654

Strategies for multilocus linkage analysis in humans

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682654

Easy calculations of lod scores and genetic risks on small computers

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682654

Hereditary progressive dystonia with marked diurnal fluctuation: clinicopathophysiological identification in reference to juvenile Parkinson's disease

27 September 2018

1 reference

12 December 2020

Parkinson's disease in 65 pairs of twins and in a set of quadruplets

1 reference

12 December 2020

Parkinson's disease in a nationwide twin cohort

1 reference

12 December 2020

Assignment of the X-linked torsion dystonia gene to Xq21 by linkage analysis

1 reference

12 December 2020

The phenotype of the X-linked dystonia-parkinsonism syndrome. An assessment of 42 cases in the Philippines

1 reference

12 December 2020

Report of the committee on linkage and gene order

1 reference

12 December 2020

Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-34

1 reference

12 December 2020

X-linked recessive torsion dystonia in the Philippines

1 reference

12 December 2020

Clonal analysis using recombinant DNA probes from the X-chromosome

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

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1550125%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

1 reference