(Q57990805)

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De novo triplication of theMAPTgene from the recurrent 17q21.31 microdeletion region in a patient with moderate intellectual disability and various minor anomalies

scientific article published on 07 June 2012

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scholarly article

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4 February 2020

De novo triplication of the MAPT gene from the recurrent 17q21.31 microdeletion region in a patient with moderate intellectual disability and various minor anomalies (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22678764%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

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based on heuristic

inferred from title

intellectual disability

1 reference

based on heuristic

inferred from title

disability affecting intellectual abilities

1 reference

based on heuristic

inferred from title

4

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4 February 2020

Christiane Zweier

5

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4 February 2020

author name string

Anne Gregor

1

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4 February 2020

Mandy Krumbiegel

2

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4 February 2020

Cornelia Kraus

3

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7 June 2012

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4 February 2020

American Journal of Medical Genetics

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4 February 2020

158A

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4 February 2020

7

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4 February 2020

1765-1770

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4 February 2020

Association of an extended haplotype in the tau gene with progressive supranuclear palsy

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35427

21 January 2018

Corticotropin releasing factor in the embryonic mouse cerebellum.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35427

21 January 2018

A copy number variation morbidity map of developmental delay

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35427

21 January 2018

Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35427

21 January 2018

Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35427

21 January 2018

17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35427

21 January 2018

Altered microtubule organization in small-calibre axons of mice lacking tau protein

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35427

21 January 2018

Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35427

21 January 2018

Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35427

21 January 2018

Muscle weakness, hyperactivity, and impairment in fear conditioning in tau-deficient mice.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35427

21 January 2018

A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35427

21 January 2018

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35427

21 January 2018

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35427

21 January 2018

MAPT gene duplications are not a cause of frontotemporal lobar degeneration.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35427

21 January 2018

A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35427

21 January 2018

Recurrent inversion events at 17q21.31 microdeletion locus are linked to the MAPT H2 haplotype

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35427

21 January 2018

Frontotemporal dementia phenotype associated with MAPT gene duplication.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35427

21 January 2018

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35427

21 January 2018

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35427

21 January 2018

A common inversion under selection in Europeans

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35427

21 January 2018

Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35427

21 January 2018

Identifiers

10.1002/AJMG.A.35427

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22678764%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22678764%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

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