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Mumm, S; Jermak, C; Waeltz, P et al. (1998) 22-Mb integrated physical and genetic map based on YAC/STS content spanning the interval DXS1125-DXS95 in human Xq12-q21.31. Gene 208:147-56
|
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Trump, D; Dixon, P H; Mumm, S et al. (1998) Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27. J Med Genet 35:905-9
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Nagaraja, R; Jermak, C; Trusgnich, M et al. (1998) YAC/STS map of 15Mb of Xp21.3-p11.3, at 100kb resolution, with refined comparisons of genetic distances and DMD structure. Gene 215:259-67
|
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Porta, G; MacMillan, S; Nagaraja, R et al. (1997) 4.5-Mb YAC STS contig at 50-kb resolution, spanning Xq25 deletions in two patients with lymphoproliferative syndrome. Genome Res 7:27-36
|
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Mumm, S; Whyte, M P; Thakker, R V et al. (1997) mtDNA analysis shows common ancestry in two kindreds with X-linked recessive hypoparathyroidism and reveals a heteroplasmic silent mutation. Am J Hum Genet 60:153-9
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D'Esposito, M; Matarazzo, M R; Ciccodicola, A et al. (1997) Differential expression pattern of XqPAR-linked genes SYBL1 and IL9R correlates with the structure and evolution of the region. Hum Mol Genet 6:1917-23
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Mumm, S; Zucchi, I; Pilia, G (1997) SOX3 gene maps near DXS984 in Xq27.1, within candidate regions for several X-linked disorders. Am J Med Genet 72:376-8
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Pilia, G; Hughes-Benzie, R M; MacKenzie, A et al. (1996) Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome. Nat Genet 12:241-7
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Zucchi, I; Mumm, S; Pilia, G et al. (1996) YAC/STS map across 12 Mb of Xq27 at 25-kb resolution, merging Xq26-qter. Genomics 34:42-54
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Pilia, G; MacMillan, S; Nagaraja, R et al. (1996) YAC/STS map of 9 Mb of Xq26 at 100-kb resolution, localizing 6 ESTs, 6 genes, and 32 genetic markers. Genomics 34:55-62
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