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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1997 1
1999 1
2000 3
2002 2
2003 1
2006 1
2007 2
2009 2
2010 2
2012 1
2013 2
2014 4
2015 4
2017 1
2020 2
2021 2
2022 1
2023 3
2024 1

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31 results

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Page 1
Hereditary dentin defects with systemic diseases.
Su T, Zhu Y, Wang X, Zhu Q, Duan X. Su T, et al. Oral Dis. 2023 Sep;29(6):2376-2393. doi: 10.1111/odi.14589. Epub 2023 Apr 24. Oral Dis. 2023. PMID: 37094075 Review.
RESULTS: Over 10 systemic diseases, including osteogenesis imperfecta, hypophosphatemic rickets, vitamin D-dependent rickets, familial tumoral calcinosis, Ehlers-Danlos syndrome, Schimke immuno-osseous dysplasia, hypophosphatasia, Elsahy-Waters syndrom …
RESULTS: Over 10 systemic diseases, including osteogenesis imperfecta, hypophosphatemic rickets, vitamin D-dependent rickets, familial tumor …
Schimke immuno-osseous dysplasia.
Basiratnia M, Fallahzadeh MH. Basiratnia M, et al. Saudi Med J. 2007 Mar;28(3):457-60. Saudi Med J. 2007. PMID: 17334480
Schimke immuno-osseous dysplasia SIOD is a rare autosomal recessive disorder characterized by steroid resistant nephrotic syndrome, immune deficiency, and osseous dysplasia. ...
Schimke immuno-osseous dysplasia SIOD is a rare autosomal recessive disorder characterized by steroid resistant …
Clinical course of post-kidney transplant Schimke immuno-osseous dysplasia.
Woo HA, Kim SH, Ahn YH, Min SI, Ha J, Ha IS, Cheong HI, Kang HG. Woo HA, et al. Pediatr Transplant. 2023 Dec;27(8):e14605. doi: 10.1111/petr.14605. Epub 2023 Sep 11. Pediatr Transplant. 2023. PMID: 37691539
BACKGROUND: Schimke immuno-osseous dysplasia (SIOD) is a rare systemic disease characterized by short stature, proteinuria, and recurrent infections. ...
BACKGROUND: Schimke immuno-osseous dysplasia (SIOD) is a rare systemic disease characterized by short stature, p …
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 humans.
Sobek AK, Evers C, Dekomien G. Sobek AK, et al. Mol Cell Probes. 2013 Feb;27(1):32-7. doi: 10.1016/j.mcp.2012.08.007. Epub 2012 Aug 27. Mol Cell Probes. 2013. PMID: 23010210
Sandhoff (OMIM: 268800), M. Tay-Sachs variant AB (OMIM: 272750) and Schimke immuno-osseous dysplasia (OMIM: 242900)....
Sandhoff (OMIM: 268800), M. Tay-Sachs variant AB (OMIM: 272750) and Schimke immuno-osseous dysplasia (OMIM: 2429 …
Schimke immuno-osseous dysplasia: case report and review of 25 patients.
Saraiva JM, Dinis A, Resende C, Faria E, Gomes C, Correia AJ, Gil J, da Fonseca N. Saraiva JM, et al. J Med Genet. 1999 Oct;36(10):786-9. doi: 10.1136/jmg.36.10.786. J Med Genet. 1999. PMID: 10528861 Free PMC article. Review.
The differences between the two groups are not striking, and although similarities are greater between affected sibs, the same diagnosis of Schimke immuno-osseous dysplasia should apply to them all. The aetiology and physiopathology of this rare osteoc …
The differences between the two groups are not striking, and although similarities are greater between affected sibs, the same diagnosis of …
Different Phenotypes of Schimke Immuno-Osseous Dysplasia (SIOD) in Two Sisters with the Same Mutation in the SMARCAL1 Gene.
Castellano-Martinez A, Acuñas-Soto S, Varga-Martinez R, Rodriguez-Gonzalez M, Mora-Lopez F, Iriarte-Gahete M, Roldan-Cano V. Castellano-Martinez A, et al. Endocr Metab Immune Disord Drug Targets. 2022;22(8):888-894. doi: 10.2174/1871530322666220223154028. Endocr Metab Immune Disord Drug Targets. 2022. PMID: 35209826
BACKGROUND: Schimke immuno-osseous dysplasia (SIOD) is a very rare autosomal recessive genetic disease caused by mutations in the SMARCAL1 gene. ...
BACKGROUND: Schimke immuno-osseous dysplasia (SIOD) is a very rare autosomal recessive genetic disease caused by …
Podocytic infolding in Schimke immuno-osseous dysplasia with novel SMARCAL1 mutations: a case report.
Xiong S, Shuai L, Li X, Dang X, Wu X, He Q. Xiong S, et al. BMC Nephrol. 2020 May 11;21(1):170. doi: 10.1186/s12882-020-01809-6. BMC Nephrol. 2020. PMID: 32393263 Free PMC article.
BACKGROUND: Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive disorder characterized by spondyloepiphyseal dysplasia, progressive renal insufficiency and defective cellular immunity. ...
BACKGROUND: Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive disorder characterized by spon …
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. ...
Schimke immuno-osseous dysplasia (SIOD) is a rare multisystem disorder with early mortality and steroid-resistan …
Importance of neurologic and cutaneous signs in the diagnosis of Schimke immuno-osseous dysplasia.
Polat Aİ, Yiş U, Ayanoğlu M, Hız AS, Güleryüz H, Öztürk Atasoy T, Boerkoel CF. Polat Aİ, et al. Turk J Pediatr. 2015 Sep-Oct;57(5):509-13. Turk J Pediatr. 2015. PMID: 27411420
Schimke immuno-osseous dysplasia is an autosomal recessive multisystem disorder caused by defects in SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1 gene (SMARCAL1). ...Cutaneous findings and developmental …
Schimke immuno-osseous dysplasia is an autosomal recessive multisystem disorder caused by defects in SWI/SNF-rel …
Medullary nephrocalcinosis in Schimke immuno-osseous dysplasia.
Yavuz S, Bayazıt AK, Anarat A, Gonlusen G, Alsancak P. Yavuz S, et al. Pediatr Int. 2015 Apr;57(2):310-3. doi: 10.1111/ped.12455. Pediatr Int. 2015. PMID: 25868949
Schimke immuno-osseous dysplasia (SIOD) is a rare hereditary disease characterized by skeletal dysplasia, immune deficiency and progressive renal disease. ...
Schimke immuno-osseous dysplasia (SIOD) is a rare hereditary disease characterized by skeletal dysplasia, immune …
31 results