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The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations.
Frosk P, Greenberg CR, Tennese AA, Lamont R, Nylen E, Hirst C, Frappier D, Roslin NM, Zaik M, Bushby K, Straub V, Zatz M, de Paula F, Morgan K, Fujiwara TM, Wrogemann K. Frosk P, et al. Among authors: fujiwara tm. Hum Mutat. 2005 Jan;25(1):38-44. doi: 10.1002/humu.20110. Hum Mutat. 2005. PMID: 15580560
A locus for Bowen-Conradi syndrome maps to chromosome region 12p13.3.
Lamont RE, Loredo-Osti J, Roslin NM, Mauthe J, Coghlan G, Nylen E, Frappier D, Innes AM, Lemire EG, Lowry RB, Greenberg CR, Triggs-Raine BL, Morgan K, Wrogemann K, Fujiwara TM, Zelinski T. Lamont RE, et al. Among authors: fujiwara tm. Am J Med Genet A. 2005 Jan 15;132A(2):136-43. doi: 10.1002/ajmg.a.30420. Am J Med Genet A. 2005. PMID: 15578624
Identification of a chromosome 8p locus for early-onset coronary heart disease in a French Canadian population.
Engert JC, Lemire M, Faith J, Brisson D, Fujiwara TM, Roslin NM, Brewer CG, Montpetit A, Darmond-Zwaig C, Renaud Y, Doré C, Bailey SD, Verner A, Tremblay G, St-Pierre J, Bétard C, Platko J, Rioux JD, Morgan K, Hudson TJ, Gaudet D. Engert JC, et al. Among authors: fujiwara tm. Eur J Hum Genet. 2008 Jan;16(1):105-14. doi: 10.1038/sj.ejhg.5201920. Epub 2007 Sep 5. Eur J Hum Genet. 2008. PMID: 17805225
SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis.
Bergwitz C, Roslin NM, Tieder M, Loredo-Osti JC, Bastepe M, Abu-Zahra H, Frappier D, Burkett K, Carpenter TO, Anderson D, Garabedian M, Sermet I, Fujiwara TM, Morgan K, Tenenhouse HS, Juppner H. Bergwitz C, et al. Among authors: fujiwara tm. Am J Hum Genet. 2006 Feb;78(2):179-92. doi: 10.1086/499409. Epub 2005 Dec 9. Am J Hum Genet. 2006. PMID: 16358214 Free PMC article.
Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7.
Goobie S, Popovic M, Morrison J, Ellis L, Ginzberg H, Boocock GR, Ehtesham N, Bétard C, Brewer CG, Roslin NM, Hudson TJ, Morgan K, Fujiwara TM, Durie PR, Rommens JM. Goobie S, et al. Among authors: fujiwara tm. Am J Hum Genet. 2001 Apr;68(4):1048-54. doi: 10.1086/319505. Epub 2001 Mar 15. Am J Hum Genet. 2001. PMID: 11254457 Free PMC article.
49 results