(Q51930213)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19610115%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

title

3q29 Microdeletion: a mental retardation disorder unassociated with a recognizable phenotype in two mother-daughter pairs (English)

1 reference

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2 February 2020

1 reference

9

1 reference

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2 February 2020

Antonio Novelli

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19610115%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

author name string

Maria Cristina Digilio

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19610115%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Laura Bernardini

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19610115%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Rita Mingarelli

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19610115%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Rossella Capolino

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19610115%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Anna Capalbo

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19610115%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Maria Grazia Giuffrida

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19610115%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Paolo Versacci

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19610115%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

language of work or name

English

0 references

publication date

1 August 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19610115%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

2 February 2020

published in

1 reference

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2 February 2020

volume

149A

1 reference

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2 February 2020

issue

8

1 reference

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2 February 2020

page(s)

1777-1781

1 reference

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Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

2 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32965

Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32965

Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32965

Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32965

Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32965

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.32965

3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32965

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.32965

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19610115%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

1 reference