(Q33620850)

28 July 2017

20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition (English)

1 reference

high-throughput sequencing

28 July 2017

1 reference

6

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28 July 2017

21

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Julien Thevenon

Julien Thevenon

7

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Amélie Piton

Amélie Piton

1

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Katell Peoc'h

Katell Peoc'h

18

0 references

Claire Redin

3

Claire Redin

1 reference

28 July 2017

4

Alice Masurel

1 reference

28 July 2017

8

Yvan Herenger

1 reference

28 July 2017

16

Bernard Jost

1 reference

28 July 2017

17

Bénédicte Gérard

1 reference

28 July 2017

20

Laurence Faivre

1 reference

28 July 2017

Christel Thauvin-Robinet

13

Christel Thauvin-Robinet

1 reference

28 July 2017

11

Jean-Michel Pinoit

1 reference

28 July 2017

9

Sophie Chancenotte

1 reference

28 July 2017

Hélène Poquet

2

1 reference

28 July 2017

Julia Lauer

5

1 reference

28 July 2017

Marlène Bonnet

10

1 reference

28 July 2017

Frédéric Huet

12

1 reference

28 July 2017

Anne-Sophie Jaeger

14

1 reference

28 July 2017

Stéphanie Le Gras

15

1 reference

28 July 2017

Jean-Marie Launay

19

1 reference

28 July 2017

30 October 2013

1 reference

European Journal of Human Genetics

28 July 2017

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28 July 2017

22

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28 July 2017

6

1 reference

28 July 2017

776-783

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2013.243

28 July 2017

0 references

cites work

XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing

1 reference

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Mutations in monoamine oxidase (MAO) genes in mice lead to hypersensitivity to serotonin-enhancing drugs: implications for drug side effects in humans

21 June 2018

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Monoamine oxidase A and A/B knockout mice display autistic-like features

21 June 2018

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Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023218

KD4v: Comprehensible Knowledge Discovery System for Missense Variant

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023218

Fragile X and X-linked intellectual disability: four decades of discovery

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023218

De novo microdeletion of Xp11.3 exclusively encompassing the monoamine oxidase A and B genes in a male infant with episodic hypotonia: a genomics approach to personalized medicine

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023218

MAOA, abuse exposure and antisocial behaviour: 30-year longitudinal study

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023218

Association of the MAOA promoter uVNTR polymorphism with suicide attempts in patients with major depressive disorder

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023218

Genetics of early onset cognitive impairment

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023218

MutationTaster evaluates disease-causing potential of sequence alterations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023218

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023218

Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023218

A method and server for predicting damaging missense mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023218

The Sequence Alignment/Map format and SAMtools

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023218

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023218

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023218

Reference intervals for urinary catecholamines and metabolites from birth to adulthood

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023218

Mutations in human monoamine-related neurotransmitter pathway genes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023218

Novel monoamine oxidase A knock out mice with human-like spontaneous mutation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023218

Structure of human monoamine oxidase A at 2.2-A resolution: The control of opening the entry for substrates/inhibitors

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023218

MAOA, maltreatment, and gene–environment interaction predicting children's mental health: new evidence and a meta-analysis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023218

SIFT: Predicting amino acid changes that affect protein function

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023218

Role of genotype in the cycle of violence in maltreated children

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023218

GeneSplicer: a new computational method for splice site prediction

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023218

Screen for MAOA mutations in target human groups

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023218

A functional polymorphism in the monoamine oxidase A gene promoter

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023218

Improved splice site detection in Genie

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023218

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023218

Site-directed mutagenesis of monoamine oxidase A and B: role of cysteines

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023218

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023218

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023218

Human liver MAO-A and MAO-B separated by immunoaffinity chromatography with MAO-B-specific monoclonal antibody

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023218

Diagnostic uses of the Vineland Adaptive Behavior Scales

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023218

Autism diagnostic observation schedule: a standardized observation of communicative and social behavior

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023218

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023218

Association of autism severity with a monoamine oxidase A functional polymorphism.

21 June 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.243

Monoamine oxidase a promoter gene associated with problem behavior in adults with intellectual/developmental disabilities

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.243

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.243

Retrospective assessment of atomoxetine in children and adolescents with pervasive developmental disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.243

MAOA/B deletion syndrome in male siblings with severe developmental delay and sudden loss of muscle tonus.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023218

Characterization of the binding of [3H]Ro 41-1049 to the active site of human monoamine oxidase-A.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023218

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

30 October 2018

1 reference

12 December 2020

Plasma 5-hydroxyindoleacetic acid as an indicator of monoamine oxidase-A inhibition in rat brain and peripheral tissues

1 reference

12 December 2020

Serotonin, catecholamines, histamine, and their metabolites in urine, platelets, and tumor tissue of patients with carcinoid tumors

1 reference

12 December 2020

Different metabolism of norepinephrine and epinephrine by catechol-O-methyltransferase and monoamine oxidase in rats

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2013.243

1 reference

28 July 2017

1 reference

28 July 2017

1 reference