Disease: Spondyloepiphyseal dysplasia nephrotic syndrome
- A child with nephrotic syndrome and with focal and segmental glomerulosclerosis: do we have to care about associated malformations?
- A novel compound heterozygous variant in <em>SMARCAL1</em> leading to mild Schimke immune-osseous dysplasia identified using whole-exome sequencing
- A novel compound heterozygous variant in SMARCAL1 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
- An unusual cause of nephrotic syndrome: Answers
- Anesthetic management of Schimke syndrome
- Association of nephrotic syndrome and spondylo-epiphyseal dysplasia
- Association of spondylo-epiphyseal dysplasia with nephrotic syndrome
- BK virus associated nephropathy and severe pneumonia in a kidney transplanted adolescent with Schimke immuneosseous- dysplasia
- Bone marrow transplantation in Schimke immuno-osseous dysplasia
- Cerebellar defect associated with Schimke immuno-osseous dysplasia
- Chromatin changes in SMARCAL1 deficiency: A hypothesis for the gene expression alterations of Schimke immuno-osseous dysplasia
- Clinical course of post-kidney transplant Schimke immuno-osseous dysplasia
- Cutaneous squamous cell carcinoma with epidermodysplasia verruciformis-like features in a patient with Schimke immune-osseous dysplasia
- 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
- Early Onset Cerebral Infarction in Schimke Immuno-Osseous Dysplasia
- Ellis-Van Creveld syndrome associated with nodular sclerosing Hodgkin's disease and nephrotic syndrome
- 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
- Expanding the Clinical Features of Schimke Immuno-Osseous Dysplasia: A New Patient with a Novel Variant and Novel Clinical Findings
- Familial nephropathy and multiple exostoses with exostosin-1 (EXT1) gene mutation
- Fatal lymphoproliferative disorder in a child with Schimke immuno-osseous dysplasia
- Focal glomerular sclerosis and nephrotic syndrome in spondyloepiphyseal dysplasia
- Generalized atherosclerosis sparing the transplanted kidney in Schimke disease
- Importance of neurologic and cutaneous signs in the diagnosis of Schimke immuno-osseous dysplasia
- Improved outcome with immunosuppressive monotherapy after renal transplantation in Schimke-immuno-osseous dysplasia
- Incidence of osteodystrophy after transplantation: basic outlines and orthopedic problems
- 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
- Juvenile variant of Schimke immunoosseous dysplasia
- Klippel-Feil syndrome as a novel feature of Schimke immunoosseous dysplasia
- Lack of IL7Ralpha expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD)
- 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
- Melorheostosis mimicking synovial osteochondromatosis
- Melorheostosis with associated minimal change nephrotic syndrome, mesenteric fibromatosis and capillary haemangiomas
- Membranous nephropathy in Schimke immuno-osseous dysplasia
- Mental retardation and seizure disorder in Schimke immunoosseous dysplasia
- Mitochondrial function in schimke-immunoosseous dysplasia
- Nephrotic syndrome and amyloid A amyloidosis in a patient with Erdheim-Chester disease
- Non-hodgkin lymphoma in a child with schimke immuno-osseous dysplasia
- Nonpulmonary abnormalities recognizable in pediatric chest radiographs
- Novel SMARCAL1 bi-allelic mutations associated with a chromosomal breakage phenotype in a severe SIOD patient
- 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
- R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia
- Rare case of nephrotic syndrome: Schimke syndrome
- Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?
- Renal abnormalities and spondylometaphyseal dysplasia
- 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
- Schimke immune-osseous dysplasia: A case report
- Schimke immuno-osseous dysplasia
- Schimke immuno-osseous dysplasia, two new cases with peculiar EEG pattern
- Schimke Immuno-osseous Dysplasia: A Case Report
- Schimke immuno-osseous dysplasia: expression of SMARCAL1 in blood and kidney provides novel insight into disease phenotype
- Schimke immuno-osseous dysplasia. A case report in Colombia
- Schimke immuno-osseous dysplasia. A pediatric disease reaches adulthood
- 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 XLID syndrome results from a deletion in BCAP31
- Schimke-immuno-osseous dysplasia: new mutation with weak genotype-phenotype correlation in siblings
- Schimke's immuno-osseous dysplasia as an explanation for the rare combination of disproportionately short stature and the nephrotic syndrome
- 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
- Skeletal Outcomes in Children and Young Adults with Glomerular Disease
- SMARCAL1 and replication stress: an explanation for SIOD?
- SMARCAL1 gene analysis of 2 Chinese Schimke immuno-osseous dysplasia children
- SMARCAL1, the annealing helicase and the transcriptional co-regulator
- Spondyloepiphyseal dysplasia tarda and nephrotic syndrome in three siblings
- Spondyloepiphyseal dysplasia with nephrotic syndrome (Schimke immunoosseous dysplasia)
- Spondyloepiphyseal dysplasia with nephrotic syndrome (Schimke immunoosseous dysplasia)
- Stem cell-kidney transplantation in Schimke immuno-osseous dysplasia
- Steroid resistant nephrotic syndrome associated with spondyloepiphyseal dysplasia, transient ischemic attacks and lymphopenia
- Successful transcarotid transcatheter aortic valve replacement in a 34-kg patient with Schimke immuno-osseous dysplasia and severe biscuspid aortic stenosis
- The clinical use of anabolic steroids
- The combined treatment of praziquantel with osteopontin immunoneutralization reduces liver damage in Schistosoma japonicum-infected mice
- 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
- Tricho-rhino-phalangeal syndrome type II associated with epiglottic aplasia and congenital nephrotic syndrome
- Twenty-four-year-old male patient with infantile onset of Schimke immuno-osseous dysplasia
- Vaso-occlusion in Schimke-immuno-osseous dysplasia: is the NO pathway involved?