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Schimke immuno-osseous dysplasia, two new cases with peculiar EEG pattern.
Prato G, De Grandis E, Mancardi MM, Cordani R, Giacomini T, Pisciotta L, Uccella S, Severino M, Tortora D, Pavanello M, Bertamino M, Verrina E, Caridi G, Di Rocco M, Nobili L. Prato G, et al. Brain Dev. 2020 May;42(5):408-413. doi: 10.1016/j.braindev.2020.01.008. Epub 2020 Feb 27. Brain Dev. 2020. PMID: 32115305
Schimke Immuno-Osseous Dysplasia (SIOD) is an autosomal recessive multisystem disorder caused by pathogenic variants in the gene SMARCAL1. ...Data regarding electroencephalographic (EEG) patterns in SIOD are scarce METHODS: We describe the clinical, ne …
Schimke Immuno-Osseous Dysplasia (SIOD) is an autosomal recessive multisystem disorder caused by pathogenic vari …
Bone marrow transplantation in Schimke immuno-osseous dysplasia.
Baradaran-Heravi A, Lange J, Asakura Y, Cochat P, Massella L, Boerkoel CF. Baradaran-Heravi A, et al. Am J Med Genet A. 2013 Oct;161A(10):2609-13. doi: 10.1002/ajmg.a.36111. Epub 2013 Aug 15. Am J Med Genet A. 2013. PMID: 23950031 Free PMC article. Review.
Schimke immuno-osseous dysplasia (SIOD, OMIM 242900) is a rare autosomal recessive multisystem childhood disorder characterized by short stature, renal failure, T-cell immunodeficiency, and hypersensitivity to genotoxic agents. ...We find that only one …
Schimke immuno-osseous dysplasia (SIOD, OMIM 242900) is a rare autosomal recessive multisystem childhood disorde …
Neurologic phenotype of Schimke immuno-osseous dysplasia and neurodevelopmental expression of SMARCAL1.
Deguchi K, Clewing JM, Elizondo LI, Hirano R, Huang C, Choi K, Sloan EA, Lücke T, Marwedel KM, Powell RD Jr, Santa Cruz K, Willaime-Morawek S, Inoue K, Lou S, Northrop JL, Kanemura Y, van der Kooy D, Okano H, Armstrong DL, Boerkoel CF. Deguchi K, et al. J Neuropathol Exp Neurol. 2008 Jun;67(6):565-77. doi: 10.1097/NEN.0b013e3181772777. J Neuropathol Exp Neurol. 2008. PMID: 18520775
Schimke immuno-osseous dysplasia (OMIM 242900) is an uncommon autosomal-recessive multisystem disease caused by mutations in SMARCAL1 (swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1), a gene encoding a pu …
Schimke immuno-osseous dysplasia (OMIM 242900) is an uncommon autosomal-recessive multisystem disease caused by …
Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia.
Lipska-Ziętkiewicz BS, Gellermann J, Boyer O, Gribouval O, Ziętkiewicz S, Kari JA, Shalaby MA, Ozaltin F, Dusek J, Melk A, Bayazit AK, Massella L, Hyla-Klekot L, Habbig S, Godron A, Szczepańska M, Bieniaś B, Drożdż D, Odeh R, Jarmużek W, Zachwieja K, Trautmann A, Antignac C, Schaefer F; PodoNet Consortium. Lipska-Ziętkiewicz BS, et al. PLoS One. 2017 Aug 10;12(8):e0180926. doi: 10.1371/journal.pone.0180926. eCollection 2017. PLoS One. 2017. PMID: 28796785 Free PMC article.
Schimke immuno-osseous dysplasia (SIOD) is a rare multisystem disorder with early mortality and steroid-resistant nephrotic syndrome (SRNS) progressing to end-stage kidney disease. ...Severe phenotypes were usually associated with biallelic truncating …
Schimke immuno-osseous dysplasia (SIOD) is a rare multisystem disorder with early mortality and steroid-resistan …
Schimke versus non-Schimke chronic kidney disease: an anthropometric approach.
Lücke T, Franke D, Clewing JM, Boerkoel CF, Ehrich JH, Das AM, Zivicnjak M. Lücke T, et al. Pediatrics. 2006 Aug;118(2):e400-7. doi: 10.1542/peds.2005-2614. Epub 2006 Jun 30. Pediatrics. 2006. PMID: 16816006
Therefore, the ratio of sitting height/leg length might be a simple tool for the clinician to distinguish Schimke-immuno-osseous dysplasia from other chronic kidney disease patients. Schimke-immuno-osseous dysplasia is very …
Therefore, the ratio of sitting height/leg length might be a simple tool for the clinician to distinguish Schimke-immuno-os …
SMARCAL1, the annealing helicase and the transcriptional co-regulator.
Bansal R, Hussain S, Chanana UB, Bisht D, Goel I, Muthuswami R. Bansal R, et al. IUBMB Life. 2020 Oct;72(10):2080-2096. doi: 10.1002/iub.2354. Epub 2020 Aug 5. IUBMB Life. 2020. PMID: 32754981 Free article. Review.
Biophysical studies have shown that this protein has the unique ability to recognize and bind specifically to DNA structures possessing double-strand to single-strand transition regions. Mutations in SMARCAL1 have been linked to Schimke immuno-osseous dysp …
Biophysical studies have shown that this protein has the unique ability to recognize and bind specifically to DNA structures possessing doub …
Schimke immuno-osseous dysplasia: a clinicopathological correlation.
Clewing JM, Antalfy BC, Lücke T, Najafian B, Marwedel KM, Hori A, Powel RM, Do AF, Najera L, SantaCruz K, Hicks MJ, Armstrong DL, Boerkoel CF. Clewing JM, et al. J Med Genet. 2007 Feb;44(2):122-30. doi: 10.1136/jmg.2006.044313. Epub 2006 Jul 13. J Med Genet. 2007. PMID: 16840568 Free PMC article.
BACKGROUND: Schimke immuno-osseous dysplasia (SIOD) is a fatal autosomal recessive disorder caused by loss-of-function mutations in swi/snf-related matrix-associated actin-dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1). METHODS: Analys …
BACKGROUND: Schimke immuno-osseous dysplasia (SIOD) is a fatal autosomal recessive disorder caused by loss-of-fu …
Novel compound mutations of SMARCAL1 associated with severe Schimke immuno-osseous dysplasia in a Chinese patient.
Yue Z, Xiong S, Sun L, Huang W, Mo Y, Huang L, Jiang X, Chen S, Hu B, Wang Y. Yue Z, et al. Nephrol Dial Transplant. 2010 May;25(5):1697-702. doi: 10.1093/ndt/gfq071. Epub 2010 Feb 22. Nephrol Dial Transplant. 2010. PMID: 20179009
BACKGROUND: Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive pleiotropic disease caused by mutations in the SMARCAL1 gene. ...Marked carpal bone age retardation was also observed. Sequence analysis of the SMARCAL1 gene revea …
BACKGROUND: Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive pleiotropic disease caused by …
Schimke immuno-osseous dysplasia: expression of SMARCAL1 in blood and kidney provides novel insight into disease phenotype.
Dekel B, Metsuyanim S, Goldstein N, Pode-Shakked N, Kovalski Y, Cohen Y, Davidovits M, Anikster Y. Dekel B, et al. Pediatr Res. 2008 Apr;63(4):398-403. doi: 10.1203/PDR.0b013e31816721cc. Pediatr Res. 2008. PMID: 18356746
Schimke immuno-osseous dysplasia (SIOD) is an autosomal recessive disorder caused by loss-of-function mutations in SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), with clinical features of grow …
Schimke immuno-osseous dysplasia (SIOD) is an autosomal recessive disorder caused by loss-of-function mutations …
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, Matsubara K, Hamada R, Shimada S, Yamaguchi T, Wakui K, Miyazaki O, Muroya K, Kurosawa K, Fukami M, Ogata T, Kosho T, Kagami M. Hara-Isono K, et al. J Hum Genet. 2021 Nov;66(11):1121-1126. doi: 10.1038/s10038-021-00937-7. Epub 2021 May 24. J Hum Genet. 2021. PMID: 34031513
Hypomethylation of the H19/IGF2:IG-differential methylated region (H19LOM) is observed in 50% of SRS patients, and 15% of SRS patients with H19LOM had multilocus imprinting disturbance (MLID). Schimke immuno-osseous dysplasia (SIOD), characteriz …
Hypomethylation of the H19/IGF2:IG-differential methylated region (H19LOM) is observed in 50% of SRS patients, and 15% of SRS patient …
17 results