(Q59213621)

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Sotos syndrome

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scholarly article

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2 references

13 March 2019

24 March 2019

Sotos syndrome (English)

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2 references

13 March 2019

24 March 2019

Valérie Cormier-Daire

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Valérie Cormier-Daire

2

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author name string

Geneviève Baujat

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language of work or name

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publication date

7 September 2007

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13 March 2019

24 March 2019

Orphanet Journal of Rare Diseases

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13 March 2019

24 March 2019

2

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1

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36

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copyright license

Creative Commons Attribution 2.0 Generic

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Europe PubMed Central

13 March 2019

Europe PubMed Central

24 March 2019

copyright status

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on focus list of Wikimedia project

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https://scigraph.springernature.com/pub.10.1186/1750-1172-2-36

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Mutations in the NSD1 gene in patients with Sotos syndrome associate with endocrine and paracrine alterations in the IGF system

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https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetics of Sotos syndrome

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https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

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https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

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https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The syndromes of Sotos and Weaver: reports and review.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mental deficiency, alterations in performance, and CNS abnormalities in overgrowth syndromes

1 reference

https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cervical instability in Sotos syndrome: a case report

1 reference

https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Follow-up and risk of tumors in overgrowth syndromes

1 reference

https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Anaesthesia in a child with Sotos syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cerebral gigantism (Sotos syndrome). Compiled data of 22 cases. Analysis of clinical features, growth and plasma somatomedin

1 reference

https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1).

1 reference

https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Behavioural phenotypes. Biologically determined neuropsychological patterns].

1 reference

https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ganglioglioma in a Sotos syndrome patient with an NSD1 deletion.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Risk of malignancy in Sotos syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Haploinsufficiency of NSD1 causes Sotos syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital urological anomalies in Sotos syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gigantism (Acromegalic in Type).

1 reference

https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial gigantism caused by an NSD1 mutation.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of the NSD1 promoter region in patients with a Sotos syndrome phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

NSD1 mutations in Sotos syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tumors and nontumors in Sotos syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spectrum of NSD1 mutations in Sotos and Weaver syndromes

1 reference

https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genotype-phenotype correlation in patients suspected of having Sotos syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A case of Sotos syndrome (cerebral gigantism) and psychosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cancer in Sotos syndrome: report of a patient with acute myelocytic leukemia and review of the literature

1 reference

https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Patient with Sotos syndrome, Wolff-Parkinson-White pattern on electrocardiogram, and two right-sided accessory bypass tracts.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Perinatal imaging findings of inherited Sotos syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sotos syndrome and de novo balanced autosomal translocation (t(3;6)(p21;p21))

1 reference

https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Risk of tumorigenesis in overgrowth syndromes: A comprehensive review

1 reference

https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and molecular overlap in overgrowth syndromes.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cytogenetic Evidence of Involvement of Chromosome Regions 15q12 and 12q15 in Conditions with Associated Overgrowth

1 reference

https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Growth in Sotos syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Plasma insulin-like growth factors (IGFs), IGF-Binding proteins (IGFBPs), acid-labile subunit (ALS) and IGFBP-3 proteolysis in individuals with clinical characteristics of Sotos syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The first Japanese familial Sotos syndrome with a novel mutation of the NSD1 gene.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evaluation of NSD2 and NSD3 in overgrowth syndromes

1 reference

https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Behavioural and emotional characteristics in children with Sotos syndrome and learning disabilities.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical features of NSD1-positive Sotos syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The neuroimaging findings in Sotos syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sotos syndrome--autosomal dominant inheritance substantiated.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Metacarpophalangeal pattern profile analysis in Sotos and Marfan syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17825104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1186/1750-1172-2-36

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