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Schimke immunoosseous dysplasia

Known as: Immunoosseous Dysplasia, Schimke Type, Immunoosseous dysplasia Schimke type, SIOD 
National Institutes of Health

Related topics

Related topics

24 relations
AnemiaAstigmatismAutosomal recessive inheritanceCerebral Infarction

Broader (4)

ArteriosclerosisImmunologic Deficiency SyndromesOsteochondrodysplasiasPulmonary Embolism

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?
BackgroundSchimke immuno-osseous dysplasia (SIOD) is a multisystemic disorder caused by biallelic mutations in the SWI/SNF… 
2013
2013
Schimke immunoosseous dysplasia associated with undifferentiated carcinoma and a novel SMARCAL1 mutation in a child
Schimke Immunoosseous Dysplasia (SIOD) is a rare, autosomal recessive disorder of childhood with classical features of… 
Highly Cited
2012
Highly Cited
2012
Unwinding and Rewinding: Double Faces of Helicase?
Helicases are enzymes that use ATP-driven motor force to unwind double-stranded DNA or RNA. Recently, increasing evidence… 
Highly Cited
2012
Highly Cited
2012
Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression.
Biallelic mutations of the DNA annealing helicase SMARCAL1 (SWI/SNF-related, matrix-associated, actin-dependent regulator of… 
2009
2009
Schimke immunoosseous dysplasia: defining skeletal features
Schimke immunoosseous dysplasia (SIOD) is an autosomal recessive multisystem disorder characterized by prominent… 
Highly Cited
2009
Highly Cited
2009
The annealing helicase HARP protects stalled replication forks.
Mutations in HepA-related protein (HARP) are the only identified causes of Schimke immunoosseous dysplasia (SIOD). HARP has a… 
Highly Cited
2007
Highly Cited
2007
Schimke immunoosseous dysplasia: suggestions of genetic diversity
Schimke immunoosseous dysplasia (SIOD), which is characterized by prominent spondyloepiphyseal dysplasia, T‐cell deficiency, and… 
2007
2007
Cerebellar atrophy in Schimke‐immuno‐osseous dysplasia
Schimke‐immuno‐osseous dysplasia is an autosomal‐recessive multisystem disorder with the prominent clinical features… 
2004
2004
Vibrational spectra of trimethylsilanol. The problem of the assignment of the SiOH group frequencies.
Review
2000
Review
2000
Mental retardation and seizure disorder in Schimke immunoosseous dysplasia.
Schimke immunoosseous dysplasia (SID) is a rare, pleiotropic disorder compromising spondyloepiphyseal dysplasia, nephrotic… 
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