A novel nonsense variant in NSD1 gene in a female child with Sotos syndrome: A case report and literature review

A nonsense variant in the second exon of the canonical transcript of NSD1 does not cause Sotos syndrome

(2021) Noa Ruhrman‐Shahar et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Developmental delay and epilepsy without gigantism: An unusual presentation of soto's syndrome due to a novel mutation in the NSD1 gene

(2021) IndarKumar Sharawat et al.   Annals of Indian Academy of Neurology

Investigating cortical features of Sotos syndrome using mice heterozygous for Nsd1

(2020) Sabrina Oishi et al.   GENES BRAIN AND BEHAVIOR

Sotos syndrome with a novel mutation in the NSD1 gene associated with congenital hypothyroidism

(2020) Arushi Verma et al.   International Journal of Pediatrics and Adolescent Medicine

Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations

(2019) Katheryn Grand et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The phenotype of Sotos syndrome in adulthood: A review of 44 individuals

(2019) Alison Foster et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

DNA methylation analysis of multiple imprinted DMRs in Sotos syndrome reveals IGF2 ‐DMR0 as a DNA methylation‐dependent, P0 promoter‐specific enhancer

(2019) Hidetaka Watanabe et al.   FASEB JOURNAL

Expanding the Clinical Spectrum of Sotos Syndrome in a Patient with the New “c.[5867T>A]+[=]”; “p.[Leu1956Gln]+[=]” NSD1 Missense Mutation and Complex Skin Hamartoma

(2018) Annalisa Mencarelli et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

A rare case of a boy with de novo microduplication at 5q35.2q35.3 from central Brazil

(2017) F.G. Reis et al.   GENETICS AND MOLECULAR RESEARCH

Structural basis for PHDVC5HCHNSD1–C2HRNizp1interaction: implications for Sotos syndrome

(2016) Andrea Berardi et al.   NUCLEIC ACIDS RESEARCH

Dynamic behavior of the post-SET loop region of NSD1: Implications for histone binding and drug development

(2016) Sarah E. Graham et al.   PROTEIN SCIENCE

Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort

(2016) Kyungsoo Ha et al.   Genes

Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations

(2012) Young Bae Sohn et al.   JOURNAL OF HUMAN GENETICS

The Structure of NSD1 Reveals an Autoregulatory Mechanism Underlying Histone H3K36 Methylation

(2011) Qi Qiao et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome

(2010) Valérie Malan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Persistent falcine sinus and unilateral renal agenesis in a girl with Sotos syndrome

(2010) Pen-Hua Su et al.   CLINICAL DYSMORPHOLOGY

NSD1 PHD domains bind methylated H3K4 and H3K9 using interactions disrupted by point mutations in human sotos syndrome

(2010) Martina P. Pasillas et al.   HUMAN MUTATION

Role for the nuclear receptor-binding SET domain protein 1 (NSD1) methyltransferase in coordinating lysine 36 methylation at histone 3 with RNA polymerase II function

(2010) A. K. Lucio-Eterovic et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion

(2009) Luis M Franco et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A Clinical Study of Sotos Syndrome Patients With Review of the Literature

(2009) George Leventopoulos et al.   PEDIATRIC NEUROLOGY