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Urinary tract effects of HPSE2 mutations.
Stuart HM, Roberts NA, Hilton EN, McKenzie EA, Daly SB, Hadfield KD, Rahal JS, Gardiner NJ, Tanley SW, Lewis MA, Sites E, Angle B, Alves C, Lourenço T, Rodrigues M, Calado A, Amado M, Guerreiro N, Serras I, Beetz C, Varga RE, Silay MS, Darlow JM, Dobson MG, Barton DE, Hunziker M, Puri P, Feather SA, Goodship JA, Goodship TH, Lambert HJ, Cordell HJ; UK VUR Study Group; Saggar A, Kinali M; 4C Study Group; Lorenz C, Moeller K, Schaefer F, Bayazit AK, Weber S, Newman WG, Woolf AS. Stuart HM, et al. Among authors: angle b. J Am Soc Nephrol. 2015 Apr;26(4):797-804. doi: 10.1681/ASN.2013090961. Epub 2014 Aug 21. J Am Soc Nephrol. 2015. PMID: 25145936 Free PMC article.
Neuroimaging findings in children with rare or novel de novo chromosomal anomalies.
Epstein LG, Jalali A, Chary AN, Khan S, Ross J, Coppinger J, Carlson K, Charrow J, Burton B, Zimmerman D, Curran J, Kim F, Nguyen P, Burrowes D, Angle B, Stack C, Shaffer L, Kessler JA, Bassuk AG. Epstein LG, et al. Among authors: angle b. Birth Defects Res A Clin Mol Teratol. 2008 Apr;82(4):200-10. doi: 10.1002/bdra.20443. Birth Defects Res A Clin Mol Teratol. 2008. PMID: 18302267
Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes.
Pyott SM, Schwarze U, Christiansen HE, Pepin MG, Leistritz DF, Dineen R, Harris C, Burton BK, Angle B, Kim K, Sussman MD, Weis M, Eyre DR, Russell DW, McCarthy KJ, Steiner RD, Byers PH. Pyott SM, et al. Among authors: angle b. Hum Mol Genet. 2011 Apr 15;20(8):1595-609. doi: 10.1093/hmg/ddr037. Epub 2011 Jan 31. Hum Mol Genet. 2011. PMID: 21282188 Free PMC article.
Familial leg ulcers.
Angle B, Burton BK. Angle B, et al. Lancet. 1998 Apr 4;351(9108):1031-2. doi: 10.1016/S0140-6736(05)78998-4. Lancet. 1998. PMID: 9546515 No abstract available.
57 results