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• W2005446458 abstract "American Journal of Medical Genetics Part AVolume 155, Issue 12 p. 3164-3169 Research Letter Minimal genotype–phenotype correlation for small deletions within distal 1p36† A. Buck, A. Buck Department of Pediatrics, Hannover Medical School, Hannover, GermanySearch for more papers by this authorC. du Souich, C. du Souich Child and Family Research Institute, Vancouver, Canada Department of Medical Genetics, University of British Columbia, Vancouver, CanadaSearch for more papers by this authorCornelius F. Boerkoel, Corresponding Author Cornelius F. Boerkoel [email protected] Child and Family Research Institute, Vancouver, Canada Department of Medical Genetics, University of British Columbia, Vancouver, CanadaProvincial Medical Genetics Program, Department of Medical Genetics, Children's and Women's Health Centre of BC, 4500 Oak St., Rm. C234, Vancouver, BC V6H 3N1, Canada.Search for more papers by this author A. Buck, A. Buck Department of Pediatrics, Hannover Medical School, Hannover, GermanySearch for more papers by this authorC. du Souich, C. du Souich Child and Family Research Institute, Vancouver, Canada Department of Medical Genetics, University of British Columbia, Vancouver, CanadaSearch for more papers by this authorCornelius F. Boerkoel, Corresponding Author Cornelius F. Boerkoel [email protected] Child and Family Research Institute, Vancouver, Canada Department of Medical Genetics, University of British Columbia, Vancouver, CanadaProvincial Medical Genetics Program, Department of Medical Genetics, Children's and Women's Health Centre of BC, 4500 Oak St., Rm. C234, Vancouver, BC V6H 3N1, Canada.Search for more papers by this author First published: 07 November 2011 https://doi.org/10.1002/ajmg.a.34333Citations: 9 † How to Cite this Article: Buck A, du Souich C, Boerkoel CF. 2011. Minimal genotype–phenotype correlation for small deletions within distal 1p36. Am J Med Genet Part A 155: 3164–3169. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat REFERENCES Ballif BC, Yu W, Shaw CA, Kashork CD, Shaffer LG. 2003. Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions. Hum Mol Genet 12: 2153–2165. Ballif BC, Wakui K, Gajecka M, Shaffer LG. 2004. Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangements. Hum Genet 114: 198–206. Battaglia A. 2005. Del 1p36 syndrome: A newly emerging clinical entity. Brain Dev 27: 358–361. Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, Bahi-Buisson N, Romano C, Williams CA, Brailey LL, Zuberi SM, Carey JC. 2008. Further delineation of deletion 1p36 syndrome in 60 patients: A recognizable phenotype and common cause of developmental delay and mental retardation. Pediatrics 121: 404–410. Bjork BC, Turbe-Doan A, Prysak M, Herron BJ, Beier DR. 2010. Prdm16 is required for normal palatogenesis in mice. Hum Mol Genet 19: 774–789. Chuikov S, Levi BP, Smith ML, Morrison SJ. 2010. Prdm16 promotes stem cell maintenance in multiple tissues, partly by regulating oxidative stress. Nat Cell Biol 12: 999–1006. D'Angelo CS, Da Paz JA, Kim CA, Bertola DR, Castro CI, Varela MC, Koiffmann CP. 2006. Prader–Willi-like phenotype: Investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems. Eur J Med Genet 49: 451–460. Gajecka M, Glotzbach CD, Shaffer LG. 2006. Characterization of a complex rearrangement with interstitial deletions and inversion on human chromosome 1. Chromosome Res 14: 277–282. Gajecka M, Mackay KL, Shaffer LG. 2007. Monosomy 1p36 deletion syndrome. Am J Med Genet Part C 145C: 346–356. Gajecka M, Saitta SC, Gentles AJ, Campbell L, Ciprero K, Geiger E, Catherwood A, Rosenfeld JA, Shaikh T, Shaffer LG. 2010. Recurrent interstitial 1p36 deletions: Evidence for germline mosaicism and complex rearrangement breakpoints. Am J Med Genet Part A 152A: 3074–3083. Heilstedt HA, Ballif BC, Howard LA, Kashork CD, Shaffer LG. 2003a. Population data suggest that deletions of 1p36 are a relatively common chromosome abnormality. Clin Genet 64: 310–316. Heilstedt HA, Ballif BC, Howard LA, Lewis RA, Stal S, Kashork CD, Bacino CA, Shapira SK, Shaffer LG. 2003b. Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am J Hum Genet 72: 1200–1212. Kajimura S, Seale P, Tomaru T, Erdjument-Bromage H, Cooper MP, Ruas JL, Chin S, Tempst P, Lazar MA, Spiegelman BM. 2008. Regulation of the brown and white fat gene programs through a PRDM16/CtBP transcriptional complex. Genes Dev 22: 1397–1409. Kajimura S, Seale P, Kubota K, Lunsford E, Frangioni JV, Gygi SP, Spiegelman BM. 2009. Initiation of myoblast to brown fat switch by a PRDM16-C/EBP-beta transcriptional complex. Nature 460: 1154–1158. Redon R, Rio M, Gregory SG, Cooper RA, Fiegler H, Sanlaville D, Banerjee R, Scott C, Carr P, Langford C, Cormier-Daire V, Munnich A, Carter NP, Colleaux L. 2005. Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: Contiguous gene deletion or “deletion with positional effect” syndrome? J Med Genet 42: 166–171. Rosenfeld JA, Crolla JA, Tomkins S, Bader P, Morrow B, Gorski J, Troxell R, Forster-Gibson C, Cilliers D, Hislop RG, Lamb A, Torchia B, Ballif BC, Shaffer LG. 2010. Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions. Am J Med Genet Part A 152A: 1951–1959. Shing DC, Trubia M, Marchesi F, Radaelli E, Belloni E, Tapinassi C, Scanziani E, Mecucci C, Crescenzi B, Lahortiga I, Odero MD, Zardo G, Gruszka A, Minucci S, Di Fiore PP, Pelicci PG. 2007. Overexpression of sPRDM16 coupled with loss of p53 induces myeloid leukemias in mice. J Clin Invest 117: 3696–3707. Stevens-Kroef MJ, Schoenmakers EF, van Kraaij M, Huys E, Vermeulen S, van der Reijden B, van Kessel AG. 2006. Identification of truncated RUNX1 and RUNX1-PRDM16 fusion transcripts in a case of t(1;21)(p36;q22)-positive therapy-related AML. Leukemia 20: 1187–1189. Tsuyusaki Y, Yoshihashi H, Furuya N, Adachi M, Osaka H, Yamamoto K, Kurosawa K. 2010. 1p36 deletion syndrome associated with Prader–Willi-like phenotype. Pediatr Int 52: 547–550. Wu YQ, Heilstedt HA, Bedell JA, May KM, Starkey DE, McPherson JD, Shapira SK, Shaffer LG. 1999. Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions. Hum Mol Genet 8: 313–321. Citing Literature Volume155, Issue12December 2011Pages 3164-3169 ReferencesRelatedInformation" @default.
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