Associated Papers
Investigation of DNA Damage Response Genes Validates the Role of DNA Repair in Pediatric Cancer Risk and Identifies SMARCAL1 as a Novel Osteosarcoma Predisposition Gene.
Oak N et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2025
Comprehensive investigation of DNA damage repair genes in children with cancer identifies SMARCAL1 as novel osteosarcoma predisposition gene.
Oak N et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
A novel compound heterozygous variant in SMARCAL1 leading to mild Schimke immune-osseous dysplasia identified using whole-exome sequencing.
Wang L et al.
The Journal of International Medical Research, 2021
Whole Exome Sequencing Identified a Novel Biallelic SMARCAL1 Mutation in the Extremely Rare Disease SIOD.
Jin J et al.
Frontiers in Genetics, 2019
Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia.
Lipska-Ziętkiewicz BS et al.
Plos One, 2017
Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD).
Sanyal M et al.
Clinical Immunology (orlando, Fla.), 2015
Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?
Morimoto M et al.
Orphanet Journal of Rare Diseases, 2012
Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia.
Zieg J et al.
Pediatric Rheumatology Online Journal, 2011
Improved outcome with immunosuppressive monotherapy after renal transplantation in Schimke-immuno-osseous dysplasia.
Lücke T et al.
Pediatric Transplantation, 2009
Schimke immunoosseous dysplasia: suggestions of genetic diversity.
Clewing JM et al.
Human Mutation, 2007
Schimke-immuno-osseous dysplasia: new mutation with weak genotype-phenotype correlation in siblings.
Lücke T et al.
American Journal of Medical Genetics. Part A, 2005
Association of migraine-like headaches with Schimke immuno-osseous dysplasia.
Kilic SS et al.
American Journal of Medical Genetics. Part A, 2005