Associated Papers
A large cohort study of prenatal exome sequencing redefines diagnosis in fetal corpus callosum anomalies.
Héron D et al.
Brain : a Journal of Neurology, 2025
Surgical decision-making in adult patients with epilepsy related to germline mutations: A single-center study.
Podkorytova I et al.
The Journal of International Medical Research, 2025
A novel nonsense variant in NSD1 gene in a female child with Sotos syndrome: A case report and literature review.
Liu X et al.
Brain and Behavior, 2023
An investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant.
Yüksel Ülker A et al.
American Journal of Medical Genetics. Part A, 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
Mutations in NSD1 and NFIX in Three Patients with Clinical Features of Sotos Syndrome and Malan Syndrome.
Lu Y et al.
Journal of Pediatric Genetics, 2017
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
Leukocyte cDNA analysis of NSD1 derived from confirmed Sotos syndrome patients.
Duno M et al.
Annals of Human Genetics, 2007
Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome.
Saugier-Veber P et al.
Human Mutation, 2007
NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory.
Waggoner DJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2005
NSD1 mutations in Sotos syndrome.
Faravelli F
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2005
Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.
Tatton-Brown K et al.
American Journal of Human Genetics, 2005
Genotype-phenotype correlation in patients suspected of having Sotos syndrome.
de Boer L et al.
Hormone Research, 2004
Spectrum of NSD1 mutations in Sotos and Weaver syndromes.
Rio M et al.
Journal of Medical Genetics, 2003