(Q47882350)

6 February 2018

title

Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes (English)

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6 February 2018

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19

Stefan Mundlos

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6 February 2018

Denise Horn

20

object named as

Denise Horn

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6 February 2018

author name string

Seval Türkmen

1

1 reference

6 February 2018

Gabriele Gillessen-Kaesbach

2

1 reference

6 February 2018

Peter Meinecke

3

1 reference

6 February 2018

Beate Albrecht

4

1 reference

6 February 2018

Luitgard M Neumann

5

1 reference

6 February 2018

Volker Hesse

6

1 reference

6 February 2018

Sükrü Palanduz

7

1 reference

6 February 2018

Stefanie Balg

8

1 reference

6 February 2018

Frank Majewski

9

1 reference

6 February 2018

Sigrun Fuchs

10

1 reference

6 February 2018

Petra Zschieschang

11

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6 February 2018

Monika Greiwe

12

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6 February 2018

Kirsten Mennicke

13

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6 February 2018

Friedmar R Kreuz

14

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6 February 2018

Harald J Dehmel

15

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6 February 2018

Burkhard Rodeck

16

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6 February 2018

Jürgen Kunze

17

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6 February 2018

Sigrid Tinschert

18

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6 February 2018

publication date

1 November 2003

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6 February 2018

European Journal of Human Genetics

published in

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6 February 2018

volume

11

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6 February 2018

issue

11

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6 February 2018

page(s)

858-865

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6 February 2018

The Weaver syndrome: a rare type of primordial overgrowth.

cites work

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201050

The syndromes of Sotos and Weaver: reports and review

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201050

Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201050

Haploinsufficiency of NSD1 causes Sotos syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201050

NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201050

Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201050

Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201050

Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201050

The Drosophila Polycomb-group gene Enhancer of zeste contains a region with sequence similarity to trithorax

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201050

Two distinct nuclear receptor interaction domains in NSD1, a novel SET protein that exhibits characteristics of both corepressors and coactivators

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201050

The PWWP domain: a potential protein-protein interaction domain in nuclear proteins influencing differentiation?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201050

Sotos syndrome: a study of the diagnostic criteria and natural history

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201050

Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201050

Child with Sotos phenotype and a 5:15 translocation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201050

inferred from DOI database lookup

7 January 2021

based on heuristic

The protein encoded by the Drosophila position-effect variegation suppressor gene Su(var)3-9 combines domains of antagonistic regulators of homeotic gene complexes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201050

inferred from DOI database lookup

7 January 2021

based on heuristic

The PHD finger: implications for chromatin-mediated transcriptional regulation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201050

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/SJ.EJHG.5201050

1 reference

6 February 2018

1 reference

6 February 2018