(Q34570833)

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Sotos syndrome

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scholarly article

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Europe PubMed Central

3 August 2017

Sotos syndrome. (English)

1 reference

Europe PubMed Central

3 August 2017

2

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Europe PubMed Central

3 August 2017

author name string

Katrina Tatton-Brown

1

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Europe PubMed Central

3 August 2017

publication date

13 September 2006

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Europe PubMed Central

3 August 2017

European Journal of Human Genetics

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Europe PubMed Central

3 August 2017

15

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Europe PubMed Central

3 August 2017

264-271

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Europe PubMed Central

3 August 2017

3

1 reference

Europe PubMed Central

3 August 2017

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201686

0 references

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201686

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201686

21 January 2018

Haploinsufficiency of NSD1 causes Sotos syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201686

21 January 2018

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/10.1038%2FSJ.EJHG.5201686

21 January 2018

Spectrum of NSD1 mutations in Sotos and Weaver syndromes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201686

21 January 2018

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/10.1038%2FSJ.EJHG.5201686

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201686

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201686

21 January 2018

The neuroimaging findings in Sotos syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201686

21 January 2018

Clinical features of NSD1-positive Sotos syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201686

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201686

21 January 2018

PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201686

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201686

21 January 2018

Autosomal dominant macrocephaly: benign familial macrocephaly or a new syndrome?

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201686

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201686

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201686

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201686

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201686

21 January 2018

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/10.1038%2FSJ.EJHG.5201686

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201686

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201686

21 January 2018

Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201686

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201686

21 January 2018

Integration of internet-based genetic databases into the medical school pre-clinical and clinical curriculum

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201686

7 January 2021

based on heuristic

inferred from DOI database lookup

Sotos syndrome with intestinal polyposis and pigmentary changes of the genitalia.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201686

7 January 2021

based on heuristic

inferred from DOI database lookup

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201686

7 January 2021

based on heuristic

inferred from DOI database lookup

GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201686

7 January 2021

based on heuristic

inferred from DOI database lookup

Chromosomal phenotypes and submicroscopic abnormalities

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201686

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/SJ.EJHG.5201686

1 reference

Europe PubMed Central

3 August 2017

release_xjzkgaqesbgpxi2b544e7g5lku

1 reference

https://api.fatcat.wiki/v0/release/xjzkgaqesbgpxi2b544e7g5lku

24 November 2022

based on heuristic

mapped directly with Wikidata item

1 reference

Europe PubMed Central

3 August 2017

ResearchGate publication ID

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