Associated Papers
New Phenotypes Associated With Pathogenic RNASEH2B and SAMHD1 Variants.
Abdel-Salam GMH et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi-Goutières syndrome.
Karla AR et al.
American Journal of Medical Genetics. Part A, 2024
Early arteriopathy in Aicardi-Goutières syndrome 5. Case report and review of literature.
Markovic I et al.
The Neuroradiology Journal, 2023
Juvenile Dermatomyositis and Infantile Cerebral Palsy: Aicardi-Gouteres Syndrome, Type 5, with a Novel Mutation in SAMHD1-A Case Report.
Sorokina LS et al.
Biomedicines, 2023
Moyamoya Syndrome in an Infant with Aicardi-Goutières and Williams Syndromes: A Case Report.
Brar JS et al.
Neuropediatrics, 2022
SAMHD1 in cancer: curse or cure?
Schott K et al.
Journal of Molecular Medicine (berlin, Germany), 2022
Dual roles of SAMHD1 in tumor development and chemoresistance to anticancer drugs.
Chen Z et al.
Oncology Letters, 2021
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
Tocilizumab reverses cerebral vasculopathy in a patient with homozygous SAMHD1 mutation.
Henrickson M et al.
Clinical Rheumatology, 2017
Interferon-Stimulated Gene Expression as a Preferred Biomarker for Disease Activity in Aicardi-Goutières Syndrome.
Wang BX et al.
Journal of Interferon & Cytokine Research : the Official Journal of the International Society for Interferon and Cytokine Research, 2017
Aggressive CD8(+) epidermotropic cutaneous T-cell lymphoma associated with homozygous mutation in SAMHD1.
Merati M et al.
Jaad Case Reports, 2015
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Crow YJ et al.
American Journal of Medical Genetics. Part A, 2015
SAMHD1 Gene Mutations Are Associated with Cerebral Large-Artery Atherosclerosis.
Li W et al.
Biomed Research International, 2015
A 4-year-old Amish boy with weakness, arthritis, rash, verbal delay, and failure to thrive.
Gurion R et al.
Arthritis Care & Research, 2013
Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke.
Xin B et al.
Proceedings of the National Academy of Sciences of the United States of America, 2011