(Q37058516)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

title

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

47

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Ana Maria Fortuna

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Teresa Mattina

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Charlotte W Ockeloen

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Concetta Barone

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Emanuela Avola

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Katrin Ounap

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Lynne M Bird

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Miranda Splitt

38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Julie McGaughran

41

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Nael Nadif Kasri

44

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Corrado Romano

48

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

31

Helen V Firth

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

45

Han G Brunner

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

49

Evan E Eichler

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

29

Sarina G Kant

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

20

Jayne Y Hehir-Kwa

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Marjolein H Willemsen

21

object named as

Marjolein H Willemsen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

42

Bradley P Coe

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

50

Bert B A de Vries

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

2

Rolph Pfundt

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

30

Erica H Gerkes

1 reference

22 February 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

1

David A Koolen

1 reference

22 February 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

4

Gea Beunders

1 reference

22 February 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

Katrin Linda

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Hermine E Veenstra-Knol

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Jessie H Conta

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Sarah Dugan

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Sara Halbach

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Omar A Abdul-Rahman

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Heather M Winesett

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Wendy K Chung

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Marguerite Dalton

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Petia S Dimova

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Katrina Prescott

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Hui Z Zhang

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Howard M Saal

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Marjolijn C Jongmans

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Nathalie Van der Aa

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Pinella Failla

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Alice S Brooks

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Diane Masser-Frye

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Jennifer R Friedman

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Modupe A Sokunbi

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Abhijit Dixit

37

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

DDD Study

39

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Mary K Kukolich

40

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Jesús Flórez

43

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Elizabeth M Thompson

46

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Gabriele Gillessen-Kaesbach

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

publication date

26 August 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

22 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

volume

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

page(s)

652-659

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ejhg.2015.178

22 February 2020

exact match

0 references

cites work

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1 reference

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Refining analyses of copy number variation identifies specific genes associated with developmental delay

29 September 2017

1 reference

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Structural analysis of the KANSL1/WDR5/KANSL2 complex reveals that WDR5 is required for efficient assembly and chromatin targeting of the NSL complex

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930086

Clinical significance of de novo and inherited copy-number variation

29 September 2017

1 reference

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An integrated map of genetic variation from 1,092 human genomes

29 September 2017

1 reference

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Structural diversity and African origin of the 17q21.31 inversion polymorphism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930086

Structural haplotypes and recent evolution of the human 17q21.31 region

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930086

Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing

29 September 2017

1 reference

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Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism

29 September 2017

1 reference

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A copy number variation morbidity map of developmental delay

29 September 2017

1 reference

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LOVD v.2.0: the next generation in gene variant databases

29 September 2017

1 reference

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Cutaneous features in 17q21.31 deletion syndrome: a differential diagnosis for cardio-facio-cutaneous syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930086

17q21.31 microdeletion syndrome: further expanding the clinical phenotype.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930086

Subunit composition and substrate specificity of a MOF-containing histone acetyltransferase distinct from the male-specific lethal (MSL) complex

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930086

Evolutionary toggling of the MAPT 17q21.31 inversion region

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930086

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930086

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

29 September 2017

1 reference

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Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930086

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

29 September 2017

1 reference

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A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930086

Nuclear pore components are involved in the transcriptional regulation of dosage compensation in Drosophila

29 September 2017

1 reference

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A common inversion under selection in Europeans

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930086

Complex phenotype associated with 17q21.31 microdeletion.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930086

An additional clinical sign of 17q21.31 microdeletion syndrome: preaxial polydactyly of hands with broad thumbs.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930086

Vitiligo in the Koolen-de Vries or 17q21.31 microdeletion syndrome.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930086

A further contribution to the delineation of the 17q21.31 microdeletion syndrome: central nervous involvement in two Italian patients.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930086

Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930086

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930086

Microdeletion and microduplication 17q21.31 plus an additional CNV, in patients with intellectual disability, identified by array-CGH.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930086

17q21.31 microdeletion in a patient with pituitary stalk interruption syndrome.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930086

Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930086

The nonspecific lethal complex is a transcriptional regulator in Drosophila

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930086

Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930086

Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4930086

Hypopigmented skin patches in 17q21.31 microdeletion syndrome

4 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2015.178

Monozygotic twins with 17q21.31 microdeletion syndrome

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26306646

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

17q21.31 microdeletion associated with infantile spasms

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26306646

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2015.178

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26306646%20AND%20SRC:MED&resulttype=core&format=json