Associated Papers
The Behavioral Phenotype and Importance of Multidisciplinary Care in Patients With Sotos Syndrome: A Single-Center Experience.
Viswanathan A et al.
American Journal of Medical Genetics. Part A, 2025
Exceptional Evolution of a Squamous Odontogenic Tumor in the Jaw: Molecular Approach.
Alonso-Juarranz M et al.
International Journal of Molecular Sciences, 2024
The T1150A cancer mutant of the protein lysine dimethyltransferase NSD2 can introduce H3K36 trimethylation.
Khella MS et al.
The Journal of Biological Chemistry, 2023
NSD1 gene evolves under episodic selection within primates and mutations of specific exons in humans cause Sotos syndrome.
Romero VI et al.
Bmc Genomics, 2022
Twenty-year follow-up of the facial phenotype of Brazilian patients with Sotos syndrome.
Castro MAA et al.
American Journal of Medical Genetics. Part A, 2021
Clonal relationship and directionality of progression of synchronous endometrial and ovarian carcinomas in patients with DNA mismatch repair-deficiency associated syndromes.
Moukarzel LA et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2021
Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations.
Grand K et al.
American Journal of Medical Genetics. Part A, 2019
Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort.
Ha K et al.
Genes, 2016
Substrate specificity analysis and novel substrates of the protein lysine methyltransferase NSD1.
Kudithipudi S et al.
Chemistry & Biology, 2014
The structure of NSD1 reveals an autoregulatory mechanism underlying histone H3K36 methylation.
Qiao Q et al.
The Journal of Biological Chemistry, 2011
Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome.
Saugier-Veber P et al.
Human Mutation, 2007
NSD1 mutations in Sotos syndrome.
Faravelli F
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2005
NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.
Douglas J et al.
American Journal of Human Genetics, 2003