(Q28732710)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22180641%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

title

Further clinical and molecular delineation of the 15q24 microdeletion syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22180641%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

main subject

microdeletion syndrome

1 reference

10

1 reference

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18 January 2020

David J Amor

27

1 reference

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18 January 2020

João Silva

28

1 reference

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18 January 2020

7

Helen V Firth

1 reference

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18 January 2020

1

Heather C Mefford

1 reference

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18 January 2020

30

Evan E Eichler

1 reference

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18 January 2020

8

Lionel Willatt

1 reference

18 January 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22180641%20AND%20SRC:MED&resulttype=core&format=json

2

Jill A Rosenfeld

1 reference

18 January 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22180641%20AND%20SRC:MED&resulttype=core&format=json

19

Jennifer Kussmann

1 reference

18 January 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22180641%20AND%20SRC:MED&resulttype=core&format=json

Natasha Shur

3

1 reference

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18 January 2020

Anne M Slavotinek

4

1 reference

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18 January 2020

Victoria A Cox

5

1 reference

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18 January 2020

Raoul C Hennekam

6

1 reference

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18 January 2020

Patricia Wheeler

9

1 reference

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18 January 2020

Joseph Cook

11

1 reference

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18 January 2020

Rachel Sullivan

12

1 reference

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18 January 2020

Albert Oh

13

1 reference

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18 January 2020

Marie T McDonald

14

1 reference

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18 January 2020

Jonathan Zonana

15

1 reference

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18 January 2020

Kory Keller

16

1 reference

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18 January 2020

Mark C Hannibal

17

1 reference

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18 January 2020

Susie Ball

18

1 reference

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18 January 2020

Jerome Gorski

20

1 reference

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18 January 2020

Susan Zelewski

21

1 reference

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18 January 2020

Valerie Banks

22

1 reference

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18 January 2020

Wendy Smith

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22180641%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Rosemarie Smith

24

1 reference

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18 January 2020

Lindsay Paull

25

1 reference

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18 January 2020

Kenneth N Rosenbaum

26

1 reference

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18 January 2020

Allen Lamb

29

1 reference

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18 January 2020

language of work or name

English

0 references

publication date

17 December 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22180641%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

18 January 2020

published in

1 reference

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18 January 2020

volume

49

1 reference

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18 January 2020

issue

2

1 reference

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18 January 2020

page(s)

110-118

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22180641%20AND%20SRC:MED&resulttype=core&format=json

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

18 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3261729

Structural variation of chromosomes in autism spectrum disorder

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3261729

Recent segmental duplications in the human genome

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3261729

Chromosomal microarray testing influences medical management

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3261729

Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3261729

A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3261729

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3261729

Duplication hotspots, rare genomic disorders, and common disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3261729

Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3261729

Novel microdeletion syndromes detected by chromosome microarrays

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3261729

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3261729

Characterization of a recurrent 15q24 microdeletion syndrome.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3261729

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3261729

Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGH.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3261729

Multiple cysts of the corpus callosum and psychomotor delay in a patient with a 3.1 Mb 15q24.1q24.2 interstitial deletion identified by array-CGH.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3261729

A report of three patients with an interstitial deletion of chromosome 15q24.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3261729

10.1136/JMEDGENET-2011-100499

27 November 2018

Identifiers

DOI

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22180641%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22180641%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

PubMed publication ID

22180641

2 references