4 Result(s)

Article

Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?

Schimke immuno-osseous dysplasia (SIOD) is a multisystemic disorder caused by biallelic mutations in the SWI/SNF-related matrix-associated actin-dependent regulator of chromatin, subfamily A-like 1 (SMARCAL1) gen...

Marie Morimoto, Clara Myung, Kimberly Beirnes… in Orphanet Journal of Rare Diseases (2016)

Article

Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

Arteriosclerosis and emphysema develop in individuals with Schimke immuno-osseous dysplasia (SIOD), a multisystem disorder caused by biallelic mutations in SMARCAL1 (SWI/SNF-related, matrix-associated, actin-depe...

Marie Morimoto, Zhongxin Yu, Peter Stenzel… in Orphanet Journal of Rare Diseases (2012)

Article

PARVOVIRUS CAUSING CARDIAC HYPERTROPHY. 1383

Hong Diem Nguyen, Mary Jo Rice, Peter Stenzel, Mark D Reller… in Pediatric Research (1996)