Associated Papers
Genomic and transcriptomic landscapes of metastatic neuroendocrine neoplasms from distinct primary sites and their clinical implications.
Wee K et al.
Scientific Reports, 2025
40328872 (PubMed )
Supplement: 41598_2025_549_MOESM4_ESM.xlsx › Sheet_1
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
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
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
SMARCAL1 mutations: a cause of prepubertal idiopathic steroid-resistant nephrotic syndrome.
Zivicnjak M et al.
Pediatric Research, 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
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