• A Case of Schimke Immunoosseous Dysplasia Caused by Large Deletion of <em>SMARCAL1</em> Gene
• A Case of Schimke Immunoosseous Dysplasia Caused by Large Deletion of SMARCAL1 Gene
• A novel compound heterozygous variant in <em>SMARCAL1</em> leading to mild Schimke immune-osseous dysplasia identified using whole-exome sequencing
• A novel SMARCAL1 missense mutation that affects splicing in a severely affected Schimke immunoosseous dysplasia patient
• A novel SMARCAL1 mutation associated with a mild phenotype of Schimke immuno-osseous dysplasia (SIOD)
• A novel splice site mutation in SMARCAL1 results in aberrant exon definition in a child with Schimke immunoosseous dysplasia
• A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2
• A structure-specific nucleic acid-binding domain conserved among DNA repair proteins
• Activity of blinatumomab in lymphoblastic leukemia with impaired T-cell immunity due to congenital immunodeficiency
• An unusual cause of nephrotic syndrome: Answers
• Anesthetic management of Schimke syndrome
• Annealing helicase HARP closes RPA-stabilized DNA bubbles non-processively
• BK virus associated nephropathy and severe pneumonia in a kidney transplanted adolescent with Schimke immuneosseous- dysplasia
• Bone marrow transplantation in Schimke immuno-osseous dysplasia
• Chromatin changes in SMARCAL1 deficiency: A hypothesis for the gene expression alterations of Schimke immuno-osseous dysplasia
• Chromatin regulator SMARCAL1 modulates cellular lipid metabolism
• Clinical course of post-kidney transplant Schimke immuno-osseous dysplasia
• Clinical quiz. Schimke immunoosseous dysplasia syndrome (SIOD)
• Cutaneous squamous cell carcinoma with epidermodysplasia verruciformis-like features in a patient with Schimke immune-osseous dysplasia
• Deficiency of smarcal1 causes cell cycle arrest and developmental abnormalities in zebrafish
• Dental abnormalities and preventive oral care in Schimke immuno-osseous dysplasia
• Dental abnormalities in Schimke immuno-osseous dysplasia
• Different Phenotypes of Schimke Immuno-Osseous Dysplasia (SIOD) in Two Sisters with the Same Mutation in the SMARCAL1 Gene
• Diffuse Carotid Arteriosclerosis and Stroke in a Patient With Schimke Immuno-osseous Dysplasia
• Disseminated cutaneous papillomas in Schimke immuno-osseous dysplasia
• Early Onset Cerebral Infarction in Schimke Immuno-Osseous Dysplasia
• Eltrombopag (thrombopoietin-receptor agonist) and plasmapheresis as rescue therapy of acute post-renal transplant immune thrombocytopenia in a child with Schimke immuno-osseous dysplasia-case report
• Expanding Phenotype of Schimke Immuno-Osseous Dysplasia: Congenital Anomalies of the Kidneys and of the Urinary Tract and Alteration of NK Cells
• HARP preferentially co-purifies with RPA bound to DNA-PK and blocks RPA phosphorylation
• Hereditary dentin defects with systemic diseases
• Identification of SMARCAL1 as a component of the DNA damage response
• Importance of neurologic and cutaneous signs in the diagnosis of Schimke immuno-osseous dysplasia
• Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?
• Inducible SMARCAL1 knockdown in iPSC reveals a link between replication stress and altered expression of master differentiation genes
• Insights into the renal pathogenesis in Schimke immuno-osseous dysplasia: A renal histological characterization and expression analysis
• Integrated multiplex ligation dependent probe amplification (MLPA) assays for the detection of alterations in the HEXB, GM2A and SMARCAL1 genes to support the diagnosis of Morbus Sandhoff, M. Tay-Sachs variant AB and Schimke immuno-osseous dysplasia in hu
• Internal carotid artery surgical revascularization in a pediatric patient with Schimke immuno-osseous dysplasia
• Klippel-Feil syndrome as a novel feature of Schimke immunoosseous dysplasia
• Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD)
• Ligand-induced conformation changes drive ATP hydrolysis and function in SMARCAL1
• Living donor kidney transplantation in patients with hereditary nephropathies
• Loss of helicase C-terminal domain of SMARCAL1 protein associated with severe Schimke immuno-osseous dysplasia
• Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia
• Medullary nephrocalcinosis in Schimke immuno-osseous dysplasia
• Mental retardation and seizure disorder in Schimke immunoosseous dysplasia
• Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia
• Mitochondrial function in schimke-immunoosseous dysplasia
• Molecular assessment of thymic capacities in patients with Schimke immuno-osseous dysplasia
• Moyamoya Syndrome in Schimke Immune-Osseous Dysplasia: A Rare Association
• Non-hodgkin lymphoma in a child with schimke immuno-osseous dysplasia
• Novel compound mutations of SMARCAL1 associated with severe Schimke immuno-osseous dysplasia in a Chinese patient
• Novel SMARCAL1 bi-allelic mutations associated with a chromosomal breakage phenotype in a severe SIOD patient
• On the Interaction Between SMARCAL1 and BRG1
• Optimal transplantation options for children with Schimke immuno-osseous dysplasia
• Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression
• Podocytic infolding in Schimke immuno-osseous dysplasia with novel SMARCAL1 mutations: a case report
• Profound T Lymphocyte and DNA Repair Defect Characterizes Schimke Immuno-Osseous Dysplasia
• Pulmonary embolism--a rare complication of Schimke immunoosseous dysplasia
• Rare case of nephrotic syndrome: Schimke syndrome
• RecA-like domain 2 of DNA-dependent ATPase A domain, a SWI2/SNF2 protein, mediates conformational integrity and ATP hydrolysis
• Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?
• Regulation of ATM and ATR by SMARCAL1 and BRG1
• Reversible cerebral vasoconstriction complicating cerebral atherosclerotic vascular disease in Schimke immuno-osseous dysplasia
• Reversible Cerebral Vasoconstriction Syndrome: A Novel Mechanism for Neurological Complications in Schimke Immuno-osseous Dysplasia
• Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia
• Schimke immune-osseous dysplasia: A case report
• Schimke immuno-osseous dysplasia, two new cases with peculiar EEG pattern
• Schimke Immuno-osseous Dysplasia: A Case Report
• Schimke immuno-osseous dysplasia. A case report in Colombia
• Schimke immunoosseous dysplasia and management considerations for vascular risks
• Schimke Immunoosseous Dysplasia associated with undifferentiated carcinoma and a novel SMARCAL1 mutation in a child
• Schimke immunoosseous dysplasia: an ultra-rare disease. a 20-year case series from the tertiary hospital in the Czech Republic
• Schimke immunoosseous dysplasia: defining skeletal features
• Schimke immunoosseous dysplasia: suggestions of genetic diversity
• Schimke XLID syndrome results from a deletion in BCAP31
• Sequential Stem Cell-Kidney Transplantation in Schimke Immuno-osseous Dysplasia
• Sequential Stem Cell-Kidney Transplantation in Schimke Immuno-osseous Dysplasia
• Sequential Stem Cell-Kidney Transplantation in Schimke Immuno-osseous Dysplasia. Reply
• SMARCAL1 and replication stress: an explanation for SIOD?
• SMARCAL1 catalyzes fork regression and Holliday junction migration to maintain genome stability during DNA replication
• SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo
• SMARCAL1 gene analysis of 2 Chinese Schimke immuno-osseous dysplasia children
• SMARCAL1 mutations: a cause of prepubertal idiopathic steroid-resistant nephrotic syndrome
• SMARCAL1, roles and mechanisms in genome stability maintenance
• SMARCAL1, the annealing helicase and the transcriptional co-regulator
• Stem cell-kidney transplantation in Schimke immuno-osseous dysplasia
• Successful bone marrow transplantation in a patient with Schimke immuno-osseous dysplasia
• Successful low-dose immunotherapy after kidney transplantation in a 10-year-old girl with Schimke immuno-osseous dysplasia
• Successful transcarotid transcatheter aortic valve replacement in a 34-kg patient with Schimke immuno-osseous dysplasia and severe biscuspid aortic stenosis
• T-cell receptor signaling in Schimke immuno-osseous dysplasia is SMARCAL1-independent
• The annealing helicase HARP protects stalled replication forks
• The annealing helicase SMARCAL1 maintains genome integrity at stalled replication forks
• The combined treatment of praziquantel with osteopontin immunoneutralization reduces liver damage in Schistosoma japonicum-infected mice
• The HARP domain dictates the annealing helicase activity of HARP/SMARCAL1
• The SIOD disorder protein SMARCAL1 is an RPA-interacting protein involved in replication fork restart
• Towards unraveling the human tooth transcriptome: the dentome
• Tracheobronchial anomalies in a patient with Schimke immuno-osseous dysplasia (SIOD)
• Transcriptional and posttranscriptional mechanisms contribute to the dysregulation of elastogenesis in Schimke immuno-osseous dysplasia
• Twenty-four-year-old male patient with infantile onset of Schimke immuno-osseous dysplasia
• Whole Exome Sequencing Identified a Novel Biallelic <em>SMARCAL1</em> Mutation in the Extremely Rare Disease SIOD