Associated Papers
Clinical and genetic spectrum of inborn errors of immunity: a retrospective study on outcomes at a single center.
Kose H et al.
Frontiers in Immunology, 2026
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
Clinical, Radiologic, and Genetic Spectrum of Schimke Immuno-Osseous Dysplasia.
Akbalık Kara M et al.
Balkan Medical Journal, 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
Genomic alterations in normal breast tissues preceding breast cancer diagnosis.
Dai J et al.
Breast Cancer Research : Bcr, 2025
Genetic and Clinical Features of Schimke Immuno-Osseous Dysplasia: Single-Centre Retrospective Study of 21 Unrelated Paediatric Patients over a Period of 20 Years.
Milovanova A et al.
International Journal of Molecular Sciences, 2025
Genetic Findings in Short Turkish Children Born to Consanguineous Parents.
Joustra SD et al.
Hormone Research in Paediatrics, 2025
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
Persistent Hypomagnesemia in the Context of Refeeding and Supplementation: A Case Report.
Hays C et al.
Cureus, 2024
Diagnostic application of exome sequencing in Chinese children with suspected inherited kidney diseases.
Gao M et al.
Frontiers in Genetics, 2022
A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2.
Hara-Isono K et al.
Journal of Human Genetics, 2021
Integrated genomics point to immune vulnerabilities in pleural mesothelioma.
Nastase A et al.
Scientific Reports, 2021
Identification of the genetic basis of sporadic polydactyly in China by targeted sequencing.
Zu B et al.
Computational and Structural Biotechnology Journal, 2021
SMARCAL1, the annealing helicase and the transcriptional co-regulator.
Bansal R et al.
Iubmb Life, 2020
Whole Exome Sequencing Identified a Novel Biallelic SMARCAL1 Mutation in the Extremely Rare Disease SIOD.
Jin J et al.
Frontiers in Genetics, 2019
RecA-like domain 2 of DNA-dependent ATPase A domain, a SWI2/SNF2 protein, mediates conformational integrity and ATP hydrolysis.
Bansal R et al.
Bioscience Reports, 2018
Early Onset Cerebral Infarction in Schimke Immuno-Osseous Dysplasia.
Hossein Babaei A et al.
Iranian Journal of Child Neurology, 2018
A novel compound heterozygous mutation of the SMARCAL1 gene leading to mild Schimke immune-osseous dysplasia: a case report.
Liu S et al.
Bmc Pediatrics, 2017
Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia.
Lipska-Ziętkiewicz BS et al.
Plos One, 2017
Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?
Morimoto M et al.
Orphanet Journal of Rare Diseases, 2016
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
Bone marrow transplantation in Schimke immuno-osseous dysplasia.
Baradaran-Heravi A et al.
American Journal of Medical Genetics. Part A, 2013
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
Improved outcome with immunosuppressive monotherapy after renal transplantation in Schimke-immuno-osseous dysplasia.
Lücke T et al.
Pediatric Transplantation, 2009
Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation.
Elizondo LI et al.
Journal of Medical Genetics, 2009
Schimke immunoosseous dysplasia: suggestions of genetic diversity.
Clewing JM et al.
Human Mutation, 2007
R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia.
Bökenkamp A et al.
Pediatric Nephrology (berlin, Germany), 2005
[Schimke's immuno-osseous dysplasia as an explanation for the rare combination of disproportionately short stature and the nephrotic syndrome].
de Jong M et al.
Nederlands Tijdschrift Voor Geneeskunde, 2005
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.
Boerkoel CF et al.
Nature Genetics, 2002
BK virus associated nephropathy and severe pneumonia in a kidney transplanted adolescent with Schimke immuneosseous- dysplasia.
Düzova A et al.
The Turkish Journal of Pediatrics, 0