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Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.
Gissen P, Johnson CA, Morgan NV, Stapelbroek JM, Forshew T, Cooper WN, McKiernan PJ, Klomp LW, Morris AA, Wraith JE, McClean P, Lynch SA, Thompson RJ, Lo B, Quarrell OW, Di Rocco M, Trembath RC, Mandel H, Wali S, Karet FE, Knisely AS, Houwen RH, Kelly DA, Maher ER. Gissen P, et al. Among authors: kelly da. Nat Genet. 2004 Apr;36(4):400-4. doi: 10.1038/ng1325. Epub 2004 Mar 28. Nat Genet. 2004. PMID: 15052268
Difficult management choices for infants with short bowel syndrome and liver failure.
Hassan KO, Beath SV, McKiernan PJ, Kelly DA, Clarke SE, Pimpilwar A, Bianchi A, de Ville de Goyet J. Hassan KO, et al. Among authors: kelly da. J Pediatr Gastroenterol Nutr. 2002 Aug;35(2):216-9. doi: 10.1097/00005176-200208000-00022. J Pediatr Gastroenterol Nutr. 2002. PMID: 12187301 No abstract available.
A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24.
Morgan NV, Gissen P, Sharif SM, Baumber L, Sutherland J, Kelly DA, Aminu K, Bennett CP, Woods CG, Mueller RF, Trembath RC, Maher ER, Johnson CA. Morgan NV, et al. Among authors: kelly da. Hum Genet. 2002 Oct;111(4-5):456-61. doi: 10.1007/s00439-002-0817-0. Epub 2002 Sep 7. Hum Genet. 2002. PMID: 12384791 Free article.
A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13.
Morgan NV, Bacchelli C, Gissen P, Morton J, Ferrero GB, Silengo M, Labrune P, Casteels I, Hall C, Cox P, Kelly DA, Trembath RC, Scambler PJ, Maher ER, Goodman FR, Johnson CA. Morgan NV, et al. Among authors: kelly da. J Med Genet. 2003 Jun;40(6):431-5. doi: 10.1136/jmg.40.6.431. J Med Genet. 2003. PMID: 12807964 Free PMC article.
Acute fatty liver disease after suprasellar tumor resection.
Evans HM, Shaikh MG, McKiernan PJ, Hockley AD, Crowne EC, Kirk JM, Kelly DA. Evans HM, et al. Among authors: kelly da. J Pediatr Gastroenterol Nutr. 2004 Sep;39(3):288-91. doi: 10.1097/00005176-200409000-00012. J Pediatr Gastroenterol Nutr. 2004. PMID: 15319631 No abstract available.
333 results