Associated Papers
Congenital hypothyroidism in two children affected by Sotos syndrome: a simple association?
Cavarzere P et al.
Italian Journal of Pediatrics, 2025
Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders.
Wayhelova M et al.
Orphanet Journal of Rare Diseases, 2024
38321498 (PubMed )
Supplement: 13023_2024_3056_MOESM5_ESM.xlsx › Truncating
Sotos syndrome with a novel mutation in the NSD1 gene associated with congenital hypothyroidism.
Verma A et al.
International Journal of Pediatrics & Adolescent Medicine, 2021
Stage IV Colorectal Cancer Patients with High Risk Mutation Profiles Survived 16 Months Longer with Individualized Therapies.
Hendricks A et al.
Cancers, 2020
32046290 (PubMed )
Supplement: cancers-12-00393-s001.zip › cancers-698395-2.revision.supplementary_materials › SuppTables_S1-S7_.xlsx › S5_American_patients_mutations
Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.
Wang S et al.
Frontiers in Oncology, 2020
32373528 (PubMed )
Supplement: Table_6.xlsx › Sheet1
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
NSD1- and NSD2-damaging mutations define a subset of laryngeal tumors with favorable prognosis.
Peri S et al.
Nature Communications, 2017
29176703 (PubMed )
Supplement: 41467_2017_1877_MOESM13_ESM.xlsx › Peri_et_al._Suppl._Data_11
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
28475857 (PubMed )
Supplement: mmc2.xlsx › Supplementary_Table_1
Clinical and molecular heterogeneity in brazilian patients with sotos syndrome.
Vieira GH et al.
Molecular Syndromology, 2015
Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome.
Saugier-Veber P et al.
Human Mutation, 2007
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
Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.
Cecconi M et al.
American Journal of Medical Genetics. Part A, 2005
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