(Q53327188)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26420380%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

title

Recurrent duplications of 17q12 associated with variable phenotypes (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26420380%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26420380%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

Antonino Alberti

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26420380%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

Emanuela Avola

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26420380%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

Marco Fichera

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26420380%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

Tomas W Fitzgerald

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26420380%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

Corrado Romano

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26420380%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

Andrew Douglas

2

1 reference

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25 February 2020

Alessandra Renieri

18

1 reference

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25 February 2020

Elke Van Oudenhove

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26420380%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

31

Jennelle C Hodge

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26420380%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

32

Heather C Mefford

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26420380%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

25

Evan E Eichler

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26420380%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

9

Pinella Failla

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26420380%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

29

John Crolla

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26420380%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

8

Cindy Skinner

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26420380%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

24

Charles Schwartz

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26420380%20AND%20SRC:MED&resulttype=core&format=json

Maria Antonietta Mencarelli

25 February 2020

19

object named as

Maria Antonietta Mencarelli

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26420380%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

1

Elyse Mitchell

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26420380%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

6

Sandra Janssens

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26420380%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

author name string

Susanne Kjaegaard

3

1 reference

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25 February 2020

Arnaud Vanlander

5

1 reference

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25 February 2020

Amy Lawson Yuen

7

1 reference

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25 February 2020

Maria Kibaek

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26420380%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

Maria C Digilio

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26420380%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

Mark C Hannibal

15

1 reference

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25 February 2020

Nicolette S den Hollander

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26420380%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

Veronica Bizzarri

17

1 reference

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25 February 2020

Serena Piazzolla

21

1 reference

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25 February 2020

Anne Slavotinek

26

1 reference

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25 February 2020

Luis Escobar

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26420380%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

Diana Rajan

28

1 reference

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25 February 2020

Nigel Carter

30

1 reference

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25 February 2020

language of work or name

English

0 references

publication date

30 September 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26420380%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

25 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26420380%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

volume

167A

1 reference

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25 February 2020

issue

12

1 reference

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25 February 2020

page(s)

3038-3045

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26420380%20AND%20SRC:MED&resulttype=core&format=json

A copy number variation morbidity map of developmental delay

25 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37351

Hepatocyte nuclear factor-1beta gene deletions--a common cause of renal disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37351

A 17q12 chromosomal duplication associated with renal disease and esophageal atresia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37351

Phenotypic heterogeneity of genomic disorders and rare copy-number variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37351

Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37351

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37351

Duplications of 17q12 can cause familial fever-related epilepsy syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37351

Population analysis of large copy number variants and hotspots of human genetic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37351

Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37351

Private inherited microdeletion/microduplications: implications in clinical practice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37351

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37351

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37351

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37351

Oesophageal atresia with tracheoesophageal fistula and anal atresia in a patient with a de novo microduplication in 17q12.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37351

Rare chromosomal deletions and duplications increase risk of schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37351

Complex autism spectrum disorder in a patient with a 17q12 microduplication

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37351