Heterogeneity ofNSD1alterations in 116 patients with Sotos syndrome (Q57757851)

Didier Lacombe

17

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Valérie Cormier-Daire

Valérie Cormier-Daire

Thierry Billette de Villemeur

18

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19

Thierry Billette de Villemeur

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Delphine Héron

13

Delphine Héron

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Alexandra Afenjar

3

Alexandra Afenjar

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Clarisse Baumann

12

Clarisse Baumann

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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

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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

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publication date

November 2007

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published in

Human Mutation

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volume

28

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issue

11

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page(s)

1098-1107

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cites work

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

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

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

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

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Tumors and nontumors in Sotos syndrome

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

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Ganglioglioma in a Sotos syndrome patient with an NSD1 deletion.

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

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7 January 2021

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

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Evaluation of NSD2 and NSD3 in overgrowth syndromes

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NSD1 mutations in Sotos syndrome

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

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7 January 2021

Re-SET-ting heterochromatin by histone methyltransferases

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

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7 January 2021

Haploinsufficiency of NSD1 causes Sotos syndrome

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Spectrum of NSD1 mutations in Sotos and Weaver syndromes

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

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

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Genome architecture, rearrangements and genomic disorders

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Clinical features of NSD1-positive Sotos syndrome

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Genetics of Sotos syndrome

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7 January 2021

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7 January 2021

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

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7 January 2021