(Q34395855)

1 August 2017

title

dHPLC screening of the NSD1 gene identifies nine novel mutations--summary of the first 100 Sotos syndrome mutations (English)

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1 August 2017

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Linea Melchior

1

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1 August 2017

Marianne Schwartz

series ordinal

2

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1 August 2017

Morten Duno

series ordinal

3

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1 August 2017

language of work or name

English

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publication date

1 March 2005

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1 August 2017

published in

Annals of Human Genetics

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1 August 2017

volume

69

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1 August 2017

issue

Pt 2

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1 August 2017

page(s)

222-226

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Dysmorphism, variable overgrowth, normal bone age, and severe developmental delay: a "Sotos-like" syndrome?

1 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1046%2FJ.1529-8817.2004.00150.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1529-8817.2004.00150.X

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/10.1046%2FJ.1529-8817.2004.00150.X

Mapping genomic deletions down to the base: a quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1529-8817.2004.00150.X

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/10.1046%2FJ.1529-8817.2004.00150.X

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/10.1046%2FJ.1529-8817.2004.00150.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1529-8817.2004.00150.X

Haploinsufficiency of NSD1 causes Sotos syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1529-8817.2004.00150.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1529-8817.2004.00150.X

The syndromes of Sotos and Weaver: reports and review

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1529-8817.2004.00150.X

Spectrum of NSD1 mutations in Sotos and Weaver syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1529-8817.2004.00150.X

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1529-8817.2004.00150.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1529-8817.2004.00150.X

Genetics of Sotos syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1529-8817.2004.00150.X

10.1046/J.1529-8817.2004.00150.X

21 January 2018

Identifiers

DOI

1 reference

1 August 2017

1 reference