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Analysis of short stature homeobox-containing gene ( SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity.
Grigelioniene G, Schoumans J, Neumeyer L, Ivarsson A, Eklöf O, Enkvist O, Tordai P, Fosdal I, Myhre AG, Westphal O, Nilsson NO, Elfving M, Ellis I, Anderlid BM, Fransson I, Tapia-Paez I, Nordenskjöld M, Hagenäs L, Dumanski JP. Grigelioniene G, et al. Among authors: dumanski jp. Hum Genet. 2001 Nov;109(5):551-8. doi: 10.1007/s00439-001-0609-y. Epub 2001 Oct 19. Hum Genet. 2001. PMID: 11735031
Characterization of the human synaptogyrin gene family.
Kedra D, Pan HQ, Seroussi E, Fransson I, Guilbaud C, Collins JE, Dunham I, Blennow E, Roe BA, Piehl F, Dumanski JP. Kedra D, et al. Among authors: dumanski jp. Hum Genet. 1998 Aug;103(2):131-41. doi: 10.1007/s004390050795. Hum Genet. 1998. PMID: 9760194
High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH.
Bruder CE, Hirvelä C, Tapia-Paez I, Fransson I, Segraves R, Hamilton G, Zhang XX, Evans DG, Wallace AJ, Baser ME, Zucman-Rossi J, Hergersberg M, Boltshauser E, Papi L, Rouleau GA, Poptodorov G, Jordanova A, Rask-Andersen H, Kluwe L, Mautner V, Sainio M, Hung G, Mathiesen T, Möller C, Pulst SM, Harder H, Heiberg A, Honda M, Niimura M, Sahlén S, Blennow E, Albertson DG, Pinkel D, Dumanski JP. Bruder CE, et al. Among authors: dumanski jp. Hum Mol Genet. 2001 Feb 1;10(3):271-82. doi: 10.1093/hmg/10.3.271. Hum Mol Genet. 2001. PMID: 11159946
Fine mapping of the constitutional translocation t(11;22)(q23;q11).
Tapia-Páez I, O'Brien KP, Kost-Alimova M, Sahlén S, Kedra D, Bruder CE, Andersson B, Roe BA, Hu P, Imreh S, Blennow E, Dumanski JP. Tapia-Páez I, et al. Among authors: dumanski jp. Hum Genet. 2000 May;106(5):506-16. doi: 10.1007/s004390000287. Hum Genet. 2000. PMID: 10914680
149 results