Below are the most recent publications written about "Osteochondrodysplasias" by people in Profiles.
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Reed S, Curran KA, Middleman AB. Delay in an Eating Disorder Diagnosis: The Reason Was a "Shox". J Pediatr Adolesc Gynecol. 2018 Apr; 31(2):138-139.
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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. Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia? Orphanet J Rare Dis. 2016 11 05; 11(1):149.
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Morimoto M, Wang KJ, Yu Z, Gormley AK, Parham D, Bogdanovic R, Lücke T, Mayfield C, Weksberg R, Hendson G, Boerkoel CF. Transcriptional and posttranscriptional mechanisms contribute to the dysregulation of elastogenesis in Schimke immuno-osseous dysplasia. Pediatr Res. 2015 Dec; 78(6):609-17.
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Morimoto M, Yu Z, Stenzel P, Clewing JM, Najafian B, Mayfield C, Hendson G, Weinkauf JG, Gormley AK, Parham DM, Ponniah U, André JL, Asakura Y, Basiratnia M, Bogdanovic R, Bokenkamp A, Bonneau D, Buck A, Charrow J, Cochat P, Cordeiro I, Deschenes G, Fenkçi MS, Frange P, Fründ S, Fryssira H, Guillen-Navarro E, Keller K, Kirmani S, Kobelka C, Lamfers P, Levtchenko E, Lewis DB, Massella L, McLeod DR, Milford DV, Nobili F, Saraiva JM, Semerci CN, Shoemaker L, Stajic N, Stein A, Taha D, Wand D, Zonana J, Lücke T, Boerkoel CF. Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? Orphanet J Rare Dis. 2012 Sep 22; 7:70.
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Chalam KV, Tripathi RC, Tripathi BJ, Shah VA, Yee D, Pakalnis VA. Cataract in Kniest dysplasia: clinicopathologic correlation. Arch Ophthalmol. 2004 Jun; 122(6):913-5.