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:
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:
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
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:
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