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664 results

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Page 1
Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates.
Lafreniere RG, MacDonald ML, Dube MP, MacFarlane J, O'Driscoll M, Brais B, Meilleur S, Brinkman RR, Dadivas O, Pape T, Platon C, Radomski C, Risler J, Thompson J, Guerra-Escobio AM, Davar G, Breakefield XO, Pimstone SN, Green R, Pryse-Phillips W, Goldberg YP, Younghusband HB, Hayden MR, Sherrington R, Rouleau GA, Samuels ME. Lafreniere RG, et al. Among authors: macfarlane j. Am J Hum Genet. 2004 May;74(5):1064-73. doi: 10.1086/420795. Epub 2004 Apr 1. Am J Hum Genet. 2004. PMID: 15060842 Free PMC article.
Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations.
Goldberg YP, MacFarlane J, MacDonald ML, Thompson J, Dube MP, Mattice M, Fraser R, Young C, Hossain S, Pape T, Payne B, Radomski C, Donaldson G, Ives E, Cox J, Younghusband HB, Green R, Duff A, Boltshauser E, Grinspan GA, Dimon JH, Sibley BG, Andria G, Toscano E, Kerdraon J, Bowsher D, Pimstone SN, Samuels ME, Sherrington R, Hayden MR. Goldberg YP, et al. Among authors: macfarlane j. Clin Genet. 2007 Apr;71(4):311-9. doi: 10.1111/j.1399-0004.2007.00790.x. Clin Genet. 2007. PMID: 17470132
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis.
Papanikolaou G, Samuels ME, Ludwig EH, MacDonald ML, Franchini PL, Dubé MP, Andres L, MacFarlane J, Sakellaropoulos N, Politou M, Nemeth E, Thompson J, Risler JK, Zaborowska C, Babakaiff R, Radomski CC, Pape TD, Davidas O, Christakis J, Brissot P, Lockitch G, Ganz T, Hayden MR, Goldberg YP. Papanikolaou G, et al. Among authors: macfarlane j. Nat Genet. 2004 Jan;36(1):77-82. doi: 10.1038/ng1274. Epub 2003 Nov 30. Nat Genet. 2004. PMID: 14647275
Hepcidin in iron overload disorders.
Papanikolaou G, Tzilianos M, Christakis JI, Bogdanos D, Tsimirika K, MacFarlane J, Goldberg YP, Sakellaropoulos N, Ganz T, Nemeth E. Papanikolaou G, et al. Among authors: macfarlane j. Blood. 2005 May 15;105(10):4103-5. doi: 10.1182/blood-2004-12-4844. Epub 2005 Jan 25. Blood. 2005. PMID: 15671438 Free PMC article.
Partial trisomy 15.
Magenis RE, Overton KM, Reiss JA, Macfarlane JP, Hecht F. Magenis RE, et al. Among authors: macfarlane jp. Lancet. 1972 Dec 23;2(7791):1365-6. doi: 10.1016/s0140-6736(72)92806-1. Lancet. 1972. PMID: 4118227 No abstract available.
664 results