(Q35946602)

11 August 2017

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title

Molecular basis of Sotos syndrome (English)

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11 August 2017

Norio Niikawa

1

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11 August 2017

1 January 2004

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11 August 2017

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11 August 2017

62 Suppl 3

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11 August 2017

60-65

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Genetics of Sotos syndrome

11 August 2017

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Haploinsufficiency of NSD1 causes Sotos syndrome

21 January 2018

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

21 January 2018

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Statistical analysis of the 5' untranslated region of human mRNA using "Oligo-Capped" cDNA libraries

21 January 2018

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Identification of eight novel NSD1 mutations in Sotos syndrome

21 January 2018

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Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome

21 January 2018

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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

21 January 2018

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Spectrum of NSD1 mutations in Sotos and Weaver syndromes

21 January 2018

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Genome architecture, rearrangements and genomic disorders

21 January 2018

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

21 January 2018

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A novel gene, NSD1, is fused to NUP98 in the t(5;11)(q35;p15.5) in de novo childhood acute myeloid leukemia.

21 January 2018

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21 January 2018

Identifiers

DOI

10.1159/000080501

1 reference

11 August 2017

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PubMed ID

15539801