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
Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome.
Calcagni G et al.
Diagnostics (basel, Switzerland), 2024
Genetic spectrum of CAKUT and risk factors for kidney failure: a pediatric multicenter cohort study.
Liu JL et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2022
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
Genetic markers and phosphoprotein forms of beta-catenin pβ-Cat552 and pβ-Cat675 are prognostic biomarkers of cervical cancer.
Scholl SM et al.
Ebiomedicine, 2020
Proband-Only Clinical Exome Sequencing for Neurodevelopmental Disabilities.
Kim SH et al.
Pediatric Neurology, 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
A Novel Missense Mutation of the NSD1 Gene Associated with Overgrowth in Three Generations of an Italian Family: Case Report, Differential Diagnosis, and Review of Mutations of NSD1 Gene in Familial Sotos Syndrome.
Laccetta G et al.
Frontiers in Pediatrics, 2017
NSD1 mutations generate a genome-wide DNA methylation signature.
Choufani S et al.
Nature Communications, 2015
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