Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion. (Q51892855)

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4 January 2020

title

Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion (English)

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4 January 2020

3

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4 January 2020

Maria Clara Bonaglia

5

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4 January 2020

Orsetta Zuffardi

9

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4 January 2020

8

Renzo Guerrini

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Bernardo Dalla Bernardina

4 January 2020

2

object named as

Bernardo Dalla Bernardina

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4 January 2020

author name string

Claudia Torniero

1

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4 January 2020

Roberto Cerini

4

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4 January 2020

Tiziano Pramparo

6

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4 January 2020

Roberto Ciccone

7

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4 January 2020

publication date

12 March 2008

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4 January 2020

number of pages

8

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European Journal of Human Genetics

inferred from page(s)

published in

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4 January 2020

volume

16

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4 January 2020

issue

8

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4 January 2020

page(s)

880-887

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https://scigraph.springernature.com/pub.10.1038/ejhg.2008.42

4 January 2020

exact match

0 references

cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.42

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.42

Autism, language delay and mental retardation in a patient with 7q11 duplication.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.42

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.42

Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.42

Mutational mechanisms of Williams-Beuren syndrome deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.42

Inverted duplications: how many of them are mosaic?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.42

Clinical findings and cytogenetic analysis of small supernumerary ring chromosomes 7: report of two new cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.42

Supernumerary ring chromosome 7 mosaicism: case report, investigation of the gene content, and delineation of the phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.42

Syndromal and nonsyndromal primary trigonocephaly: analysis of a series of 237 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.42

Germline rates of de novo meiotic deletions and duplications causing several genomic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.42

Mutational Screening of FGFR1, CER1, and CDON in a Large Cohort of Trigonocephalic Patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.42

V. Multi-level analysis of cortical neuroanatomy in Williams syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.42

Increased gyrification in Williams syndrome: evidence using 3D MRI methods.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.42

Abnormal cortical complexity and thickness profiles mapped in Williams syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.42

Increased local gyrification mapped in Williams syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.42

Genetic syndromes among individuals with mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.42

Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.42

7 January 2021

inferred from DOI database lookup

The 22q11.2 deletion: from diversity to a single gene theory

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.42

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/EJHG.2008.42

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18337728%20AND%20SRC:MED&resulttype=core&format=json

release_wphf4qamgbc23awiwxrxoucuuq

4 January 2020

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/wphf4qamgbc23awiwxrxoucuuq

24 November 2022

mapped directly with Wikidata item

1 reference