(Q38237562)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25099957%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

title

Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome (English)

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12 March 2020

1

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12 March 2020

Siren Berland

4

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12 March 2020

Nataliya Di Donato

7

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12 March 2020

Luitgard Graul-Neumann

8

object named as

Luitgard Graul-Neumann

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12 March 2020

6

Franziska Degenhardt

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12 March 2020

author name string

Olaf Rittinger

2

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12 March 2020

Ingrid Bader

3

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12 March 2020

Trevor Cole

5

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12 March 2020

Juliane Hoyer

9

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12 March 2020

Sally Ann Lynch

10

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12 March 2020

Ingrid Vlasak

11

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12 March 2020

Dagmar Wieczorek

12

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12 March 2020

publication date

5 August 2014

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25099957%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

12 March 2020

published in

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12 March 2020

volume

166C

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12 March 2020

issue

3

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12 March 2020

page(s)

290-301

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

12 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31408

The genetic basis of DOORS syndrome: an exome-sequencing study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31408

The biology of chromatin remodeling complexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31408

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/10.1002%2FAJMG.C.31408

Behavioural phenotype in Börjeson-Forssman-Lehmann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31408

Distinct phenotype of PHF6 deletions in females.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31408

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/10.1002%2FAJMG.C.31408

Structural and functional insights into the human Börjeson-Forssman-Lehmann syndrome-associated protein PHF6.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31408

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31408

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31408

Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31408

Nicolaides-Baraitser syndrome: Delineation of the phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31408

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31408

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31408

Coffin-Siris syndrome is a SWI/SNF complex disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31408

Coffin–Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31408

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31408

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31408

The X-linked intellectual disability protein PHF6 associates with the PAF1 complex and regulates neuronal migration in the mammalian brain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31408

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31408

21 January 2018

Identifiers

DOI

10.1002/AJMG.C.31408

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25099957%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

1 reference