A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review (Q33458936)

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29 January 2020

review article

1 reference

title

A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19490635%20AND%20SRC:MED&resulttype=core&format=json

chromosomal deletion syndrome

29 January 2020

main subject

7 references

22 March 2019

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14 September 2019

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atrial heart septal defect

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14 September 2019

12 October 2019

ventricular septal defect

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22 March 2019

22 April 2019

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12 October 2019

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12 October 2019

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29 January 2020

Victor Martínez-Glez

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1 reference

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29 January 2020

Luis Garcia Guereta

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1 reference

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29 January 2020

author name string

Luis Fernández

1

1 reference

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29 January 2020

Julián Nevado

2

1 reference

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29 January 2020

Fernando Santos

3

1 reference

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29 January 2020

Sixto García-Miñaur

6

1 reference

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29 January 2020

Rebeca Palomo

7

1 reference

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29 January 2020

Alicia Delicado

8

1 reference

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29 January 2020

Isidora López Pajares

9

1 reference

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29 January 2020

María Palomares

10

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29 January 2020

Eva Valverde

12

1 reference

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29 January 2020

Federico Hawkins

13

1 reference

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29 January 2020

Pablo Lapunzina

14

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29 January 2020

language of work or name

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2 June 2009

8 references

22 March 2019

22 April 2019

20 June 2019

30 June 2019

17 June 2019

14 September 2019

12 October 2019

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29 January 2020

8 references

22 March 2019

22 April 2019

20 June 2019

30 June 2019

17 June 2019

14 September 2019

12 October 2019

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29 January 2020

volume

10

1 reference

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29 January 2020

page(s)

48

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Creative Commons Attribution 2.0 Generic

29 January 2020

copyright license

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22 March 2019

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14 September 2019

on focus list of Wikimedia project

12 October 2019

copyright status

copyrighted

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ScienceSource

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21 June 2018

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21 June 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene.

21 January 2018

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22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes.

21 January 2018

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Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome.

21 January 2018

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21 January 2018

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21 January 2018

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Genome-based prediction of common diseases: advances and prospects

21 January 2018

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A novel 22q11.2 microdeletion in DiGeorge syndrome

21 January 2018

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Association between polymorphism of the SNAP29 gene promoter region and schizophrenia

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21 January 2018

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31 October 2018

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Familial recurrence of nonsyndromic congenital heart defects in first degree relatives of patients with deletion 22q11.2

21 January 2018

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Higher frequency of uncommon 1.5-2 Mb deletions found in familial cases of 22q11.2 deletion syndrome

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Novel rearrangement of chromosome band 22q11.2 causing 22q11 microdeletion syndrome-like phenotype and rhabdoid tumor of the kidney

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The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies

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DiGeorge syndrome and 22q11 rearrangements

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An inherited atypical 1 Mb 22q11.2 deletion within the DGS/VCFS 3 Mb region in a child with obesity and aggressive behavior

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Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR).

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Identifiers

DOI

10.1186/1471-2350-10-48

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19490635%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

29 January 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19490635%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

PubMed publication ID

19490635

1 reference