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Results: 1-12 |
Results: 12

Authors: Urban, Z Zhang, J Davis, EC Maeda, GK Kumar, A Stalker, H Belmont, JW Boyd, CD Wallace, MR
Citation: Z. Urban et al., Supravalvular aortic stenosis: genetic and molecular dissection of a complex mutation in the elastin gene, HUM GENET, 109(5), 2001, pp. 512-520

Authors: Stollberg, J Urschitz, J Urban, Z Boyd, CD
Citation: J. Stollberg et al., A quantitative evaluation of SAGE, GENOME RES, 10(8), 2000, pp. 1241-1248

Authors: Le Saux, O Urban, Z Tschuch, C Csiszar, K Bacchelli, B Quaglino, D Pasquali-Ronchetti, I Pope, FM Richards, A Terry, S Bercovitch, L de Paepe, A Boyd, CD
Citation: O. Le Saux et al., Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum, NAT GENET, 25(2), 2000, pp. 223-227

Authors: Milewicz, DM Urban, Z Boyd, C
Citation: Dm. Milewicz et al., Genetic disorders of the elastic fiber system, MATRIX BIOL, 19(6), 2000, pp. 471-480

Authors: Le Saux, O Urban, Z Goring, HHH Csiszar, K Pope, FM Richards, A Pasquali-Ronchetti, I Terry, S Bercovitch, L Lebwohl, MC Breuning, M van den Berg, P Kornet, L Doggett, N Ott, J de Jong, PTVM Bergen, AAB Boyd, CD
Citation: O. Le Saux et al., Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16 (vol 62, pg 1, 1999), GENOMICS, 63(3), 2000, pp. 439-439

Authors: Urban, Z Peyrol, S Plauchu, H Zabot, MT Lebwohl, M Schilling, K Green, M Boyd, CD Csiszar, K
Citation: Z. Urban et al., Elastin gene deletions in Williams syndrome patients result in altered deposition of elastic fibers in skin and a subclinical dermal phenotype, PEDIAT DERM, 17(1), 2000, pp. 12-20

Authors: Urban, Z Michels, VV Thibodeau, SN Davis, EC Bonnefont, JP Munnich, A Eyskens, B Gewillig, M Devriendt, K Boyd, CD
Citation: Z. Urban et al., Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay, HUM GENET, 106(6), 2000, pp. 577-588

Authors: Urban, Z Boyd, CD
Citation: Z. Urban et Cd. Boyd, Elastic-fiber pathologies: Primary defects in assembly - and secondary disorders in transport and delivery, AM J HU GEN, 67(1), 2000, pp. 4-7

Authors: Le Saux, O Urban, Z Goring, HHH Csiszar, K Pope, FM Richards, A Pasquali-Ronchetti, I Terry, S Bercovitch, L Lebwohl, MG Breuning, M van den Berg, P Kornet, L Ott, J de Jong, PTVM Bergen, AAB Boyd, CD
Citation: O. Le Saux et al., Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16, GENOMICS, 62(1), 1999, pp. 1-10

Authors: Lemack, GE Szabo, Z Urban, Z Boyd, CD Csiszar, K Vaughan, ED Felsen, D
Citation: Ge. Lemack et al., Altered bladder function in transgenic mice expressing rat elastin, NEUROUROL U, 18(1), 1999, pp. 55-68

Authors: Urban, Z Michels, VV Thibodeau, SN Donis-Keller, H Csiszar, K Boyd, CD
Citation: Z. Urban et al., Supravalvular aortic stenosis: a splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts, HUM GENET, 104(2), 1999, pp. 135-142

Authors: Hric, L Petrik, K Urban, Z Hanzl, D
Citation: L. Hric et al., Photometry of the dust nova V705 Cassiopeiae, ASTR AST SS, 133(2), 1998, pp. 211-216
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