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9. Medullary nephrocalcinosis in Schimke immuno-osseous dysplasia. Yavuz S; Bayazıt AK; Anarat A; Gonlusen G; Alsancak P Pediatr Int; 2015 Apr; 57(2):310-3. PubMed ID: 25868949 [TBL] [Abstract][Full Text] [Related]
10. [Schimke immuno-osseous dysplasia. A pediatric disease reaches adulthood]. Lücke T; Kanzelmeyer N; Franke D; Hartmann H; Ehrich JH; Das AM Med Klin (Munich); 2006 Mar; 101(3):208-11. PubMed ID: 16648978 [TBL] [Abstract][Full Text] [Related]
11. Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia? Morimoto M; Myung C; Beirnes K; Choi K; Asakura Y; Bokenkamp A; Bonneau D; Brugnara M; Charrow J; Colin E; Davis A; Deschenes G; Gentile M; Giordano M; Gormley AK; Govender R; Joseph M; Keller K; Lerut E; Levtchenko E; Massella L; Mayfield C; Najafian B; Parham D; Spranger J; Stenzel P; Yis U; Yu Z; Zonana J; Hendson G; Boerkoel CF Orphanet J Rare Dis; 2016 Nov; 11(1):149. PubMed ID: 27816064 [TBL] [Abstract][Full Text] [Related]
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13. Novel SMARCAL1 bi-allelic mutations associated with a chromosomal breakage phenotype in a severe SIOD patient. Simon AJ; Lev A; Jeison M; Borochowitz ZU; Korn D; Lerenthal Y; Somech R J Clin Immunol; 2014 Jan; 34(1):76-83. PubMed ID: 24197801 [TBL] [Abstract][Full Text] [Related]
14. Schimke immuno-osseous dysplasia. Basiratnia M; Fallahzadeh MH Saudi Med J; 2007 Mar; 28(3):457-60. PubMed ID: 17334480 [TBL] [Abstract][Full Text] [Related]
16. Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD). Sanyal M; Morimoto M; Baradaran-Heravi A; Choi K; Kambham N; Jensen K; Dutt S; Dionis-Petersen KY; Liu LX; Felix K; Mayfield C; Dekel B; Bokenkamp A; Fryssira H; Guillen-Navarro E; Lama G; Brugnara M; Lücke T; Olney AH; Hunley TE; Polat AI; Yis U; Bogdanovic R; Mitrovic K; Berry S; Najera L; Najafian B; Gentile M; Nur Semerci C; Tsimaratos M; Lewis DB; Boerkoel CF Clin Immunol; 2015 Dec; 161(2):355-65. PubMed ID: 26499378 [TBL] [Abstract][Full Text] [Related]
17. [SMARCAL1 gene analysis of 2 Chinese Schimke immuno-osseous dysplasia children]. Wang W; Song H; Wei M; Qiu Z; Wang C; Zhang Y; Li M; Yuan Y; Tang X Zhonghua Er Ke Za Zhi; 2015 Jan; 53(1):45-50. PubMed ID: 25748404 [TBL] [Abstract][Full Text] [Related]
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20. 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 BMC Nephrol; 2020 May; 21(1):170. PubMed ID: 32393263 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]