(Q50687726)

17 March 2018

http://europepmc.org/abstract/MED/24092917

title

A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype. (English)

1 reference

17 March 2018

http://europepmc.org/abstract/MED/24092917

author

André Reis

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24092917%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Christiane Zweier

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24092917%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Anita Rauch

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24092917%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

14

Bernd Wollnik

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24092917%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Luitgard Graul-Neumann

8

object named as

Luitgard Graul-Neumann

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24092917%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

9

Denise Horn

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24092917%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

author name string

Cornelia Kraus

2

1 reference

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31 May 2020

Louise Brueton

3

1 reference

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31 May 2020

Trevor Cole

4

1 reference

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31 May 2020

Hartmut Engels

6

1 reference

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31 May 2020

Gabriele Gillessen-Kaesbach

7

1 reference

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31 May 2020

Juliane Hoyer

10

1 reference

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31 May 2020

Walter Just

11

1 reference

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31 May 2020

Michael Zeschnigk

15

1 reference

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31 May 2020

Hermann-Josef Lüdecke

16

1 reference

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31 May 2020

Dagmar Wieczorek

17

1 reference

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31 May 2020

Franziska Degenhardt

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24092917%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

language of work or name

English

0 references

publication date

3 October 2013

1 reference

17 March 2018

http://europepmc.org/abstract/MED/24092917

published in

Journal of Medical Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24092917%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

volume

50

1 reference

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31 May 2020

issue

12

1 reference

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31 May 2020

page(s)

838-847

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24092917%20AND%20SRC:MED&resulttype=core&format=json

The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.

31 May 2020

cites work

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101918

Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101918

Novel PHF6 mutation p.D333del causes Börjeson-Forssman-Lehmann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101918

T-cell acute lymphoblastic leukemia in association with Börjeson-Forssman-Lehmann syndrome due to a mutation in PHF6.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101918

Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101918

1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101918

A novel PHF6 mutation results in enhanced exon skipping and mild Börjeson-Forssman-Lehmann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101918

PHF6 Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101918

A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101918

Skewed X-chromosome inactivation is common in fetuses or newborns associated with confined placental mosaicism

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101918

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101918

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101918

Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101918

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101918

Promoter targeting and chromatin remodeling by the SWI/SNF complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101918

Plant Homeodomain (PHD) Fingers of CHD4 Are Histone H3-binding Modules with Preference for Unmodified H3K4 and Methylated H3K9

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101918

PHF6 interacts with the nucleosome remodeling and deacetylation (NuRD) complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101918

Börjeson-Forssman-Lehmann Syndrome due to a novel plant homeodomain zinc finger mutation in the PHF6 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101918