Associated Papers
Joint hypermobility as a manifestation of neonatal Sotos syndrome.
Botella López V et al.
Bmj Case Reports, 2025
Sotos Syndrome With NSD1 Mutations in a Chinese Cohort: Identification of Two Novel Mutations and Literature Review.
Zhao J et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 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
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
NSD1 mutations by HPV status in head and neck cancer: differences in survival and response to DNA-damaging agents.
Pan C et al.
Cancers of the Head & Neck, 2019
NSD1- and NSD2-damaging mutations define a subset of laryngeal tumors with favorable prognosis.
Peri S et al.
Nature Communications, 2017
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
Tatton-Brown K et al.
American Journal of Human 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
NSD1 mutations generate a genome-wide DNA methylation signature.
Choufani S et al.
Nature Communications, 2015
Substrate specificity analysis and novel substrates of the protein lysine methyltransferase NSD1.
Kudithipudi S et al.
Chemistry & Biology, 2014
Persistent falcine sinus and unilateral renal agenesis in a girl with Sotos syndrome.
Su PH et al.
Clinical Dysmorphology, 2011
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
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