(Q57757851)

Didier Lacombe

17

0 references

Valérie Cormier-Daire

Valérie Cormier-Daire

Thierry Billette de Villemeur

18

0 references

19

Thierry Billette de Villemeur

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Delphine Héron

13

Delphine Héron

0 references

Alexandra Afenjar

3

Alexandra Afenjar

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Clarisse Baumann

12

Clarisse Baumann

0 references

author name string

Pascale Saugier-Veber

1

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Céline Bonnet

2

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Valérie Drouin-Garraud

4

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Christine Coubes

5

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Séverine Fehrenbach

6

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Muriel Holder-Espinasse

7

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Joëlle Roume

8

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Marie-France Portnoi

10

0 references

Nicolas Jeanne

11

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Albert David

14

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Marion Gérard

15

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Dominique Bonneau

16

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Thierry Frébourg

20

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Lydie Bürglen

Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.

21

0 references

publication date

November 2007

0 references

published in

Human Mutation

0 references

volume

28

0 references

page(s)

1098-1107

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issue

11

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cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20568

NSD3, a new SET domain-containing gene, maps to 8p12 and is amplified in human breast cancer cell lines

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20568

7 January 2021

Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20568

7 January 2021

Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20568

7 January 2021

The 5' region of the MSH2 gene involved in hereditary non-polyposis colorectal cancer contains a high density of recombinogenic sequences

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20568

7 January 2021

Tumors and nontumors in Sotos syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20568

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20568

7 January 2021

Ganglioglioma in a Sotos syndrome patient with an NSD1 deletion.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20568

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20568

7 January 2021

Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20568

7 January 2021

Evaluation of NSD2 and NSD3 in overgrowth syndromes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20568

7 January 2021

NSD1 mutations in Sotos syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20568

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20568

7 January 2021

Re-SET-ting heterochromatin by histone methyltransferases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20568

7 January 2021

Overexpression of transcripts originating from the MMSET locus characterizes all t(4;14)(p16;q32)-positive multiple myeloma patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20568

7 January 2021

Haploinsufficiency of NSD1 causes Sotos syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20568

7 January 2021

Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20568

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20568

7 January 2021

NSD1 is essential for early post-implantation development and has a catalytically active SET domain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20568

7 January 2021

Spectrum of NSD1 mutations in Sotos and Weaver syndromes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20568

7 January 2021

APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20568

7 January 2021

Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20568

7 January 2021

Genome architecture, rearrangements and genomic disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20568

7 January 2021

Clinical features of NSD1-positive Sotos syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20568

7 January 2021

Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20568

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20568

7 January 2021

https://api.crossref.org/works/10.1002%2FHUMU.20568

1 reference

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20568

7 January 2021

Genetics of Sotos syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20568

7 January 2021

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20568

7 January 2021

NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20568

7 January 2021