(Q48382522)

English

Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus.

scientific article published on 31 October 2006

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scholarly article

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17075606%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17075606%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Francesca Novara

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17075606%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

4

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17075606%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

5

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17075606%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Francesca Darra

6

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17075606%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Orsetta Zuffardi

9

1 reference

Europe PubMed Central

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21 December 2019

8

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Renzo Guerrini

1 reference

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21 December 2019

Bernardo Dalla Bernardina

2

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Bernardo dalla Bernardina

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17075606%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

author name string

Claudia Torniero

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17075606%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Tiziano Pramparo

7

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17075606%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

publication date

31 October 2006

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Europe PubMed Central

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21 December 2019

European Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17075606%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

15

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17075606%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

1

1 reference

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17075606%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

62-67

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17075606%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201730

0 references

Evolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201730

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201730

21 January 2018

Mutational mechanisms of Williams-Beuren syndrome deletions

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201730

21 January 2018

Severe expressive-language delay related to duplication of the Williams-Beuren locus

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201730

21 January 2018

Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201730

21 January 2018

Reciprocal translocations: a trap for cytogenetists?

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201730

21 January 2018

Pathogenesis of migration disorders

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201730

21 January 2018

Abnormal cortical complexity and thickness profiles mapped in Williams syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201730

21 January 2018

Hippocampal dysgenesis associated with temporal lobe hypoplasia and arachnoid cyst of the middle cranial fossa.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201730

21 January 2018

Cryptic t(1;12)(q44;p13.3) translocation in a previously described syndrome with polymicrogyria, segregating as an apparently X-linked trait.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201730

21 January 2018

A familial syndrome of unilateral polymicrogyria affecting the right hemisphere.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201730

21 January 2018

Williams-Beuren Syndrome: more or less? Segmental duplications and deletions in the Williams-Beuren syndrome region provide new insights into language development

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201730

7 January 2021

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