(Q51806881)

English

Large-scale objective association of mouse phenotypes with human symptoms through structural variation identified in patients with developmental disorders.

scientific article published on 6 April 2012

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

12 April 2018

http://europepmc.org/abstract/MED/22396327

Large-scale objective association of mouse phenotypes with human symptoms through structural variation identified in patients with developmental disorders. (English)

1 reference

Europe PubMed Central

PubMed publication ID

12 April 2018

http://europepmc.org/abstract/MED/22396327

author name string

Hannah Boulding

1

1 reference

Europe PubMed Central

PubMed publication ID

12 April 2018

http://europepmc.org/abstract/MED/22396327

Caleb Webber

2

1 reference

Europe PubMed Central

PubMed publication ID

12 April 2018

http://europepmc.org/abstract/MED/22396327

publication date

6 April 2012

1 reference

Europe PubMed Central

PubMed publication ID

12 April 2018

http://europepmc.org/abstract/MED/22396327

1 reference

Europe PubMed Central

PubMed publication ID

12 April 2018

http://europepmc.org/abstract/MED/22396327

33

1 reference

Europe PubMed Central

PubMed publication ID

12 April 2018

http://europepmc.org/abstract/MED/22396327

5

1 reference

Europe PubMed Central

PubMed publication ID

12 April 2018

http://europepmc.org/abstract/MED/22396327

874-883

1 reference

Europe PubMed Central

PubMed publication ID

12 April 2018

http://europepmc.org/abstract/MED/22396327

The knockout mouse project

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Criteria for validating mouse models of psychiatric diseases

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Genetics and pathophysiology of mental retardation

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Mutational and selective effects on copy-number variants in the human genome

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Somatosensory and sensorimotor consequences associated with the heterozygous disruption of the autism candidate gene, Gabrb3.

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Smith-Magenis syndrome

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1 reference

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European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities.

1 reference

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DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

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Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

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The Gene Ontology (GO) database and informatics resource

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Global variation in copy number in the human genome

1 reference

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Genes and biological processes commonly disrupted in rare and heterogeneous developmental delay syndromes

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Behavioural phenotyping assays for mouse models of autism

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Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation

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Origins and breakpoint analyses of copy number variations: up close and personal

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Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness.

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The causality of de novo copy number variants is overestimated

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Functional enrichment analysis with structural variants: pitfalls and strategies

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Forging links between human mental retardation-associated CNVs and mouse gene knockout models

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A comparison of the circadian rhythms and the levels of melatonin in patients with diurnal and nocturnal complex partial seizures

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Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications.

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Prepulse inhibition and “psychosis-proneness” in healthy individuals: An fMRI study

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7 January 2021

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Identifiers

10.1002/HUMU.22069

1 reference

Europe PubMed Central

PubMed publication ID

12 April 2018

http://europepmc.org/abstract/MED/22396327

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

12 April 2018

http://europepmc.org/abstract/MED/22396327

ResearchGate publication ID

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