(Q34145980)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521307%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

title

A new neurological syndrome with mental retardation, choreoathetosis, and abnormal behavior maps to chromosome Xp11 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521307%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

1 reference

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521307%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

author name string

Reyniers E

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521307%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Van Bogaert P

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521307%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Peeters N

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521307%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Vits L

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521307%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Pauly F

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521307%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Fransen E

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521307%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Van Regemorter N

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521307%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

language of work or name

English

0 references

publication date

1 November 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521307%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

1 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521307%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

volume

65

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521307%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521307%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

page(s)

1406-1412

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521307%20AND%20SRC:MED&resulttype=core&format=json

High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2

1 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288294

28 July 2018

XLMR genes: update 1998.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288294

Discovery of three novel orphan G-protein-coupled receptors

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288294

Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288294

An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288294

Mutations in GDI1 are responsible for X-linked non-specific 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=1288294

Oligophrenin-1 encodes a rhoGAP protein involved in 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=1288294

HPRT-APRT-deficient mice are not a model for lesch-nyhan syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288294

Mice lacking synaptophysin reproduce and form typical synaptic vesicles

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288294

A common molecular basis for three inherited kidney stone diseases

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288294

Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288294

Impairment of synaptic vesicle clustering and of synaptic transmission, and increased seizure propensity, in synapsin I-deficient mice

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288294

A new X-linked syndrome comprising progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288294

Linkage studies with the gene for an X-linked syndrome of mental retardation, microcephaly and spastic diplegia (MRX2)

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288294

Genes for synapsin I, a neuronal phosphoprotein, map to conserved regions of human and murine X 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=1288294

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288294

Synaptophysin: structure of the human gene and assignment to the X chromosome in man and mouse

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288294

A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288294

Genetic localisation of mental retardation with spastic diplegia to the pericentromeric region of the X chromosome: X inactivation in female carriers.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288294

Sequence-based exon prediction around the synaptophysin locus reveals a gene-rich area containing novel genes in human proximal Xp

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288294

Interplay between Ras-related and heterotrimeric GTP binding proteins: lifestyles of the BIG and little

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288294

A calcium channel mutation causing hypokalemic periodic paralysis

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288294

Easy calculations of lod scores and genetic risks on small computers

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288294

Chromosome-specific microsatellite sets for fluorescence-based, semi-automated genome mapping

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10521307

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/302638

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521307%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521307%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

1 reference