(Q50660807)

17 March 2018

title

Mutations in SETD2 cause a novel overgrowth condition. (English)

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17 March 2018

author

Valérie Malan

3

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17 March 2018

Eric Pasmant

10

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17 March 2018

Didier Lacombe

object named as

Didier Lacombe

7

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Valérie Cormier-Daire

object named as

Valérie Cormier-Daire

11

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author name string

Armelle Luscan

1

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17 March 2018

Ingrid Laurendeau

2

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17 March 2018

Christine Francannet

4

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17 March 2018

Sylvie Odent

5

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17 March 2018

Fabienne Giuliano

6

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17 March 2018

Renaud Touraine

8

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17 March 2018

Michel Vidaud

9

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17 March 2018

language of work or name

English

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publication date

22 May 2014

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17 March 2018

Journal of Medical Genetics

published in

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17 March 2018

volume

51

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issue

8

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17 March 2018

page(s)

512-517

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17 March 2018

CEREBRAL GIGANTISM IN CHILDHOOD. A SYNDROME OF EXCESSIVELY RAPID GROWTH AND ACROMEGALIC FEATURES AND A NONPROGRESSIVE NEUROLOGIC DISORDER.

cites work

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102402

Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102402

Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102402

Clinical and molecular overlap in overgrowth syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102402

Spectrum of NSD1 mutations in Sotos and Weaver syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102402

The NSD1 and EZH2 overgrowth genes, similarities and differences

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102402

A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102402

Haploinsufficiency of NSD1 causes Sotos syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102402

The structure of NSD1 reveals an autoregulatory mechanism underlying histone H3K36 methylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102402

Chromatin modifications and their function

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102402

H3K36 methylation antagonizes PRC2-mediated H3K27 methylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102402

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/10.1136%2FJMEDGENET-2014-102402

Mutations in EZH2 cause Weaver syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102402

The Polycomb complex PRC2 and its mark in life

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102402

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102402

Understanding the language of Lys36 methylation at histone H3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102402

dbSNP: the NCBI database of genetic variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102402

The functional spectrum of low-frequency coding variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102402

The SET-domain protein superfamily: protein lysine methyltransferases

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102402

Dynamic histone H3 methylation during gene induction: HYPB/Setd2 mediates all H3K36 trimethylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102402

The Iws1:Spt6:CTD complex controls cotranscriptional mRNA biosynthesis and HYPB/Setd2-mediated histone H3K36 methylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102402

Histone H3 lysine 36 methyltransferase Hypb/Setd2 is required for embryonic vascular remodeling

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102402

Detection of nonneutral substitution rates on mammalian phylogenies

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102402

Predicting deleterious amino acid substitutions

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102402

What can exome sequencing do for you?

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102402

Small cell lung carcinoma in a patient with Sotos syndrome: are genes at 3p21 involved in both conditions?

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102402

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102402

Histone methylation: a dynamic mark in health, disease and inheritance

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102402

High-resolution profiling of histone methylations in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102402

Genome-wide maps of chromatin state in pluripotent and lineage-committed cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102402

Histone H3 methylation by Set2 directs deacetylation of coding regions by Rpd3S to suppress spurious intragenic transcription

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102402

Differential chromatin marking of introns and expressed exons by H3K36me3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102402

A novel gene, NSD1, is fused to NUP98 in the t(5;11)(q35;p15.5) in de novo childhood acute myeloid leukemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102402

Histone methyltransferase gene SETD2 is a novel tumor suppressor gene in clear cell renal cell carcinoma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102402

Mutations in SETD2 and genes affecting histone H3K36 methylation target hemispheric high-grade gliomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102402

Exomic analysis of myxoid liposarcomas, synovial sarcomas, and osteosarcomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102402

The transcriptional landscape and mutational profile of lung adenocarcinoma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102402

Epigenetic protein families: a new frontier for drug discovery

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102402

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102402

10.1136/JMEDGENET-2014-102402

21 January 2018

Identifiers

DOI

1 reference

17 March 2018

1 reference

17 March 2018