De novo 5q35.5 duplication with clinical presentation of Sotos syndrome. (Q52617345)

4 May 2018

title

De novo 5q35.5 duplication with clinical presentation of Sotos syndrome. (English)

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4 May 2018

author name string

Jurate Kasnauskiene

1

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4 May 2018

Loreta Cimbalistiene

2

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4 May 2018

Zivile Ciuladaite

3

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4 May 2018

Egle Preiksaitiene

4

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4 May 2018

Zita Aušrelė Kučinskienė

5

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4 May 2018

Joe A Hettinger

6

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4 May 2018

Carolina Sismani

7

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4 May 2018

Philippos C Patsalis

8

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4 May 2018

Vaidutis Kučinskas

9

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4 May 2018

language of work or name

English

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publication date

1 October 2011

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4 May 2018

American Journal of Medical Genetics

published in

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4 May 2018

volume

155A

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4 May 2018

issue

10

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4 May 2018

page(s)

2501-2507

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4 May 2018

Increased LIS1 expression affects human and mouse brain development

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34179

The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34179

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34179

Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34179

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/10.1002%2FAJMG.A.34179

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34179

A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34179

MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34179

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34179

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34179

Microduplication 22q11.2: a new chromosomal syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34179

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34179

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34179

Severe expressive-language delay related to duplication of the Williams-Beuren locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34179

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34179

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34179

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34179

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.34179

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4 May 2018

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4 May 2018