(Q58193296)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21910216%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

review article

1 reference

title

Deletion 2p15-16.1 syndrome: case report and review (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21910216%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

1 reference

6

1 reference

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12 February 2020

Bruno Dallapiccola

8

1 reference

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12 February 2020

author name string

Paolo Prontera

1

1 reference

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12 February 2020

Laura Bernardini

2

1 reference

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12 February 2020

Gabriela Stangoni

3

1 reference

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12 February 2020

Anna Capalbo

4

1 reference

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12 February 2020

Daniela Rogaia

5

1 reference

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12 February 2020

Carmela Ardisia

7

1 reference

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12 February 2020

Emilio Donti

9

1 reference

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12 February 2020

language of work or name

English

0 references

publication date

9 September 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21910216%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

12 February 2020

published in

1 reference

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12 February 2020

volume

155A

1 reference

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12 February 2020

issue

10

1 reference

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12 February 2020

page(s)

2473-2478

1 reference

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Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations.

12 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33875

Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33875

The facial dysmorphy in the newly recognised microdeletion 2p15-p16.1 refined to a 570 kb region in 2p15.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33875

A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33875

Diagnostic genome profiling in mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33875

Clinical utility of array CGH for the detection of chromosomal imbalances associated with mental retardation and multiple congenital anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33875

Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33875

A newly recognised microdeletion syndrome of 2p15-16.1 manifesting moderate developmental delay, autistic behaviour, short stature, microcephaly, and dysmorphic features: a new patient with 3.2 Mb deletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33875

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33875

BAC array CGH reveals genomic aberrations in idiopathic mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33875

2q31.2q32.3 deletion syndrome: report of an adult patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33875

TBX2 gene duplication associated with complex heart defect and skeletal malformations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33875

Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33875

Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33875

Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33875

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.33875

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21910216%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

1 reference