(Q34257013)

31 July 2017

title

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome (English)

1 reference

Nicolaides–Baraitser syndrome

31 July 2017

main subject

1 reference

1 reference

Gabriele Gillessen-Kaesbach

19

Gabriele Gillessen-Kaesbach

0 references

Raoul Hennekam

48

Raoul Hennekam

0 references

Valérie Cormier-Daire

12

Valérie Cormier-Daire

0 references

Alejandro Sifrim

Alejandro Sifrim

7

0 references

Eve Seuntjens

Eve Seuntjens

5

0 references

Livia Garavelli

Livia Garavelli

18

0 references

Danny Huylebroeck

Danny Huylebroeck

22

0 references

Marco Castori

Marco Castori

Małgorzata Krajewska-Walasek

11

0 references

Malgorzata Krajewska-Walasek

24

0 references

Orsetta Zuffardi

Orsetta Zuffardi

45

0 references

Emma Wakeling

Emma Wakeling

42

0 references

Joris R Vermeesch

49

Joris Robert Vermeesch

2 references

31 July 2017

ORCID Public Data File 2021

Yves Moreau

32

Yves Moreau

1 reference

31 July 2017

29

Shane McKee

1 reference

31 July 2017

40

Catheline Vilain

1 reference

31 July 2017

21

Denise Horn

1 reference

31 July 2017

33

Fanny Morice-Picard

1 reference

31 July 2017

34

Ewa Obersztyn

1 reference

31 July 2017

8

Omar A Abdul-Rahman

1 reference

31 July 2017

16

Jean-Pierre Fryns

1 reference

31 July 2017

41

Annick Vogels

1 reference

31 July 2017

Jeroen K J Van Houdt

1

1 reference

31 July 2017

Beata Anna Nowakowska

2

1 reference

31 July 2017

Sérgio B Sousa

3

1 reference

31 July 2017

Barbera D C van Schaik

4

1 reference

31 July 2017

Nelson Avonce

6

1 reference

31 July 2017

Marie-José H van den Boogaard

9

1 reference

31 July 2017

Armand Bottani

10

1 reference

31 July 2017

Matthew A Deardorff

13

1 reference

31 July 2017

Isabel Filges

14

1 reference

31 July 2017

Alan Fryer

15

1 reference

31 July 2017

Simone Gana

17

1 reference

31 July 2017

Bryan D Hall

20

1 reference

31 July 2017

Jakub Klapecki

23

1 reference

31 July 2017

Alma Kuechler

25

1 reference

31 July 2017

Matthew A Lines

26

1 reference

31 July 2017

Saskia Maas

27

1 reference

31 July 2017

Kay D Macdermot

28

1 reference

31 July 2017

Alex Magee

30

1 reference

31 July 2017

Stella A de Man

31

1 reference

31 July 2017

Jacek Pilch

35

1 reference

31 July 2017

Elizabeth Rosser

36

1 reference

31 July 2017

Nora Shannon

37

1 reference

31 July 2017

Irene Stolte-Dijkstra

38

1 reference

31 July 2017

Patrick Van Dijck

39

1 reference

31 July 2017

Dagmar Wieczorek

43

1 reference

31 July 2017

Louise Wilson

44

1 reference

31 July 2017

Antoine H C van Kampen

46

1 reference

31 July 2017

Koenraad Devriendt

47

1 reference

31 July 2017

language of work or name

English

0 references

publication date

26 February 2012

1 reference

31 July 2017

1 reference

31 July 2017

volume

44

1 reference

31 July 2017

issue

4

1 reference

31 July 2017

page(s)

445-9, S1

1 reference

https://scigraph.springernature.com/pub.10.1038/ng.1105

31 July 2017

exact match

0 references

cites work

An unusual syndrome with mental retradation and sparse hair

1 reference

Nicolaides-Baraitser syndrome: Delineation of the phenotype

21 January 2018

1 reference

Identification of multiple distinct Snf2 subfamilies with conserved structural motifs.

21 January 2018

1 reference

ATP-dependent chromatin remodeling: genetics, genomics and mechanisms

21 January 2018

1 reference

Two novel BRM insertion promoter sequence variants are associated with loss of BRM expression and lung cancer risk.

21 January 2018

1 reference

Manipulation of SMARCA2 and SMARCA4 transcript levels in porcine embryos differentially alters development and expression of SMARCA1, SOX2, NANOG, and EIF1.

21 January 2018

1 reference

The SWI/SNF complex and cancer

21 January 2018

1 reference

Chromosome breakage hotspots and delineation of the critical region for the 9p-deletion syndrome

21 January 2018

1 reference

A Brg1 null mutation in the mouse reveals functional differences among mammalian SWI/SNF complexes

21 January 2018

1 reference

BRG1 contains a conserved domain of the SWI2/SNF2 family necessary for normal mitotic growth and transcription

21 January 2018

1 reference

Functional analysis of the DNA-stimulated ATPase domain of yeast SWI2/SNF2.

21 January 2018

1 reference

Helicase motifs: the engine that powers DNA unwinding

21 January 2018

1 reference

Mammalian SWI-SNF complexes contribute to activation of the hsp70 gene

21 January 2018

1 reference

Crystal structure of a DExx box DNA helicase

21 January 2018

1 reference

Snf2 family ATPases and DExx box helicases: differences and unifying concepts from high-resolution crystal structures

21 January 2018

1 reference

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.

21 January 2018

1 reference

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

21 January 2018

1 reference

CHD7 cooperates with PBAF to control multipotent neural crest formation

21 January 2018

1 reference

Fast and accurate short read alignment with Burrows-Wheeler transform

21 January 2018

1 reference

The Sequence Alignment/Map format and SAMtools

21 January 2018

1 reference

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

21 January 2018

1 reference

Dindel: accurate indel calls from short-read data

21 January 2018

1 reference

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

21 January 2018

1 reference

A virtual laboratory for medical image analysis

21 January 2018

1 reference

dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions

21 January 2018

1 reference

An unusual syndrome with mental retardation and sparse hair

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22366787

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.1105

1 reference

31 July 2017

1 reference