(Q34329643)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485326%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

title

Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485326%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

1 reference

1 reference

1 reference

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485326%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Annabel Whibley

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485326%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Jill E. Urquhart

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485326%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

author name string

Jonathan Dore

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485326%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Lionel Willatt

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485326%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Georgina Parkin

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485326%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Lorraine Gaunt

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485326%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Dian Donnai

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485326%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

F Lucy Raymond

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485326%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

publication date

19 May 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485326%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

2 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485326%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

volume

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485326%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

issue

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485326%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

page(s)

1095-1099

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485326%20AND%20SRC:MED&resulttype=core&format=json

Monoamine oxidase inactivation: from pathophysiology to therapeutics

2 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987451

A spontaneous point mutation produces monoamine oxidase A/B knock-out mice with greatly elevated monoamines and anxiety-like behavior

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987451

Mutations in EFHC1 cause juvenile myoclonic epilepsy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987451

Monoamine oxidase expression during development and aging

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987451

Organization of MAO A and MAO B promoters and regulation of gene expression

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987451

Monoamine oxidase in neuropsychiatry and behavior

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987451

Monoamine oxidase: from genes to behavior

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987451

A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987451

Increased stress response and beta-phenylethylamine in MAOB-deficient mice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987451

Specific genetic deficiencies of the A and B isoenzymes of monoamine oxidase are characterized by distinct neurochemical and clinical phenotypes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987451

Norrie disease and MAO genes: nearest neighbors

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987451

X-linked borderline mental retardation with prominent behavioral disturbance: phenotype, genetic localization, and evidence for disturbed monoamine metabolism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987451

Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987451

Aggressive behavior and altered amounts of brain serotonin and norepinephrine in mice lacking MAOA

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987451

Mutations in the Norrie disease gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987451

Submicroscopic interstitial deletion of the X chromosome explains a complex genetic syndrome dominated by Norrie disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987451

Norrie disease resulting from a gene deletion: clinical features and DNA studies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987451

Human monoamine oxidase A and B genes map to Xp 11.23 and are deleted in a patient with Norrie disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987451

Linkage of a gene for dominant non-syndromic deafness to chromosome 19.

6 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.41

NDP gene mutations in 14 French families with Norrie disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.41

Microdeletion in the X-chromosome and prenatal diagnosis in a family with Norrie disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.41

Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.41

4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.41

A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.41

Two Thai families with Norrie disease (ND): association of two novel missense mutations with severe ND phenotype, seizures, and a manifesting carrier

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.41

Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987451

Norrie's disease. A congenital progressive oculo-acoustico-cerebral degeneration

27 October 2018

1 reference

12 December 2020

Monoamine oxidase deficiency in males with an X chromosome deletion

1 reference

12 December 2020

Clinical, biochemical, and neuropsychiatric evaluation of a patient with a contiguous gene syndrome due to a microdeletion Xp11.3 including the Norrie disease locus and monoamine oxidase (MAOA and MAOB) genes

1 reference

12 December 2020

Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2010.41

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485326%20AND%20SRC:MED&resulttype=core&format=json

release_7sn47yhmijab5mh7zvihhutc2i

2 February 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/7sn47yhmijab5mh7zvihhutc2i

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20485326%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

PubMed publication ID

20485326

1 reference