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Results: 1-25/30
Authors:
Morello, R
Zhou, G
Dreyer, SD
Harvey, SJ
Ninomiya, Y
Thorner, PS
Miner, JH
Cole, W
Winterpacht, A
Zabel, B
Oberg, KC
Lee, B
Citation: R. Morello et al., Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome, NAT GENET, 27(2), 2001, pp. 205-208
Authors:
Lemke, J
Chudoba, I
Senger, G
Stumm, M
Loncarevic, IF
Henry, C
Zabel, B
Claussen, U
Citation: J. Lemke et al., Improved definition of chromosomal breakpoints using high-resolution multicolour banding, HUM GENET, 108(6), 2001, pp. 478-483
Authors:
Unger, SL
Briggs, MD
Holden, P
Zabel, B
Ala-Kokko, L
Paassilta, P
Lohiniva, J
Rimoin, DL
Lachman, RS
Cohn, DH
Citation: Sl. Unger et al., Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype, PEDIAT RAD, 31(1), 2001, pp. 10-18
Authors:
Reutzel, D
Mende, M
Naumann, S
Storkel, S
Brenner, W
Zabel, B
Decker, J
Citation: D. Reutzel et al., Genomic imbalances in 61 renal cancers from the proximal tubulus detected by comparative genomic hybridization, CYTOG C GEN, 93(3-4), 2001, pp. 221-227
Authors:
Amid, C
Bahr, A
Mujica, A
Sampson, N
Bikar, SE
Winterpacht, A
Zabel, B
Hankeln, T
Schmidt, ER
Citation: C. Amid et al., Comparative genomic sequencing reveals a strikingly similar architecture of a conserved syntenic region on human chromosome 11p15.3 (including gene ST5) and mouse chromosome 7, CYTOG C GEN, 93(3-4), 2001, pp. 284-290
Authors:
Gong, YQ
Slee, RB
Fukai, N
Rawadi, G
Roman-Roman, S
Reginato, AM
Wang, HW
Cundy, T
Glorieux, FH
Lev, D
Zacharin, M
Oexle, K
Marcelino, J
Suwairi, W
Heeger, S
Sabatakos, G
Apte, S
Adkins, WN
Allgrove, J
Arslan-Kirchner, M
Batch, JA
Beighton, P
Black, GCM
Boles, RG
Boon, LM
Borrone, C
Brunner, HG
Carle, GF
Dallapiccola, B
De Paepe, A
Floege, B
Halfhide, ML
Hall, B
Hennekam, RC
Hirose, T
Jans, A
Juppner, H
Kim, CA
Keppler-Noreuil, K
Kohlschuetter, A
LaCombe, D
Lambert, M
Lemyre, E
Letteboer, T
Peltonen, L
Ramesar, RS
Romanengo, M
Somer, H
Steichen-Gersdorf, E
Steinmann, B
Sullivan, B
Superti-Furga, A
Swoboda, W
van den Boogaard, MJ
Van Hul, V
Vikkula, M
Votruba, M
Zabel, B
Garcia, T
Baron, R
Olsen, BR
Warman, ML
Citation: Yq. Gong et al., LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development, CELL, 107(4), 2001, pp. 513-523
Authors:
Gedeon, AK
Tiller, GE
Le Merrer, M
Heuertz, S
Tranebjaerg, L
Chitayat, D
Robertson, S
Glass, IA
Savarirayan, R
Cole, WG
Rimoin, DL
Kousseff, BG
Ohashi, H
Zabel, B
Munnich, A
Gecz, J
Mulley, JC
Citation: Ak. Gedeon et al., The molecular basis of X-linked spondyloepiphyseal dysplasia tarda, AM J HU GEN, 68(6), 2001, pp. 1386-1397
Authors:
Ludecke, HJ
Schaper, J
Meinecke, P
Momeni, P
Gross, S
von Holtum, D
Hirche, H
Abramowicz, MJ
Albrecht, B
Apacik, C
Christen, HJ
Claussen, U
Devriendt, K
Fastnacht, E
Forderer, A
Friedrich, U
Goodship, THJ
Greiwe, M
Hamm, H
Hennekam, RCM
Hinkel, GK
Hoeltzenbein, M
Kayserili, H
Majewski, F
Mathieu, M
McLeod, R
Midro, AT
Moog, U
Nagai, T
Niikawa, N
Orstavik, KH
Plochl, E
Seitz, C
Schmidtke, J
Tranebjaerg, L
Tsukahara, M
Wittwer, B
Zabel, B
Gillessen-Kaesbach, G
Horsthemke, B
Citation: Hj. Ludecke et al., Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III, AM J HU GEN, 68(1), 2001, pp. 81-91
A novel mutation in FGFR-3 disrupts a putative N-glycosylation site and results in hypochondroplasia
Authors:
Winterpacht, A
Hilbert, K
Stelzer, C
Schweikardt, T
Decker, H
Segerer, H
Spranger, J
Zabel, B
Citation: A. Winterpacht et al., A novel mutation in FGFR-3 disrupts a putative N-glycosylation site and results in hypochondroplasia, PHYSIOL GEN, 2(1), 2000, pp. 9-12
Authors:
Momeni, P
Glockner, G
Schmidt, O
von Holtum, D
Albrecht, B
Gillessen-Kaesbach, G
Hennekam, R
Meinecke, P
Zabel, B
Rosenthal, A
Horsthemke, B
Ludecke, HJ
Citation: P. Momeni et al., Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I, NAT GENET, 24(1), 2000, pp. 71-74
Authors:
Shan, ZH
Zabel, B
Trautmann, U
Hillig, U
Ottolenghi, C
Wang, YY
Haaf, T
Citation: Zh. Shan et al., FISH mapping of the sex-reversal region on human chromosome 9p in two XY females and in primates, EUR J HUM G, 8(3), 2000, pp. 167-173
Authors:
Dreyer, SD
Morello, R
German, MS
Zabel, B
Winterpacht, A
Lunstrum, GP
Horton, WA
Oberg, KC
Lee, B
Citation: Sd. Dreyer et al., LMX1B transactivation and expression in nail-patella syndrome, HUM MOL GEN, 9(7), 2000, pp. 1067-1074
Authors:
Prawitt, D
Enklaar, T
Klemm, G
Gartner, B
Spangenberg, C
Winterpacht, A
Higgins, M
Pelletier, J
Zabel, B
Citation: D. Prawitt et al., Identification and characterization of MTR1, a novel gene with homology tomelastatin (MLSN1) and the trp gene family located in the BWS-WT2 criticalregion on chromosome 11p15.5 and showing allele-specific expression, HUM MOL GEN, 9(2), 2000, pp. 203-216
Authors:
Enklaar, T
Esswein, M
Oswald, M
Hilbert, K
Winterpacht, A
Higgins, M
Zabel, B
Prawitt, D
Citation: T. Enklaar et al., Mtr1, a novel biallelically expressed gene in the center of the mouse distal chromosome 7 imprinting cluster, is a member of the Trp gene family, GENOMICS, 67(2), 2000, pp. 179-187
Authors:
Kraemer, C
Enklaar, T
Zabel, B
Schmidt, ER
Citation: C. Kraemer et al., Mapping and structure of DMXL1, a human homologue of the DmX gene from Drosophila melanogaster coding for a WD repeat protein, GENOMICS, 64(1), 2000, pp. 97-101
Authors:
Gregory, CA
Zabel, B
Grant, ME
Boot-Handford, RP
Wallis, GA
Citation: Ca. Gregory et al., Equal expression of type X collagen mRNA from mutant and wild type COL10A1alleles in growth plate cartilage from a patient with metaphyseal chondrodysplasia type Schmid, J MED GENET, 37(8), 2000, pp. 627-629
Authors:
Faber, J
Winterpacht, A
Zabel, B
Gnoinski, W
Schinzel, A
Steinmann, B
Superti-Furga, A
Citation: J. Faber et al., Clinical variability of Stickler syndrome with a COL2A1 haploinsufficiencymutation: implications for genetic counselling, J MED GENET, 37(4), 2000, pp. 318-320
Authors:
Bahn, A
Prawitt, D
Buttler, D
Reid, G
Enklaar, T
Wolff, NA
Ebbinghaus, C
Hillemann, A
Schulten, HJ
Gunawan, B
Fuzesi, L
Zabel, B
Burckhardt, G
Citation: A. Bahn et al., Genomic structure and in vivo expression of the human organic anion transporter 1 (hOAT1) gene, BIOC BIOP R, 275(2), 2000, pp. 623-630
Authors:
Faber, J
Winterpacht, A
Zabel, B
Eich, G
Spycher, MA
Briner, J
Giunta, C
Superti-Furga, A
Steinmann, B
Citation: J. Faber et al., Kniest dysplasia: Clinical, pathologic, and molecular findings in a severely affected patient - And review of the literature, PEDIAT PATH, 18(3), 1999, pp. 187-206
Authors:
Zabel, B
Hawes, P
Stuart, H
Marino, BDV
Citation: B. Zabel et al., Construction and engineering of a created environment: Overview of the Biosphere 2 closed system, ECOL ENG, 13(1-4), 1999, pp. 43-63
Authors:
Nelson, M
Finn, M
Wilson, C
Zabel, B
van Thillo, M
Hawes, P
Fernandez, R
Citation: M. Nelson et al., Bioregenerative recycling of wastewater in Biosphere 2 using a constructedwetland: 2-year results, ECOL ENG, 13(1-4), 1999, pp. 189-197
Authors:
Kim, IS
Otto, F
Zabel, B
Mundlos, S
Citation: Is. Kim et al., Regulation of chondrocyte differentiation by Cbfa1, MECH DEVEL, 80(2), 1999, pp. 159-170
Authors:
Dreyer, SD
Zheng, QP
Zabel, B
Winterpacht, A
Lee, B
Citation: Sd. Dreyer et al., Isolation, characterization. and mapping of a zinc finger gene, ZFP95, containing both a SCAN box and an alternatively spliced KRAB A domain, GENOMICS, 62(1), 1999, pp. 119-122
Authors:
Friedt, M
Gerner, P
Lausch, E
Trubel, H
Zabel, B
Wirth, S
Citation: M. Friedt et al., Mutations in the basic core promotor and the precore region of hepatitis Bvirus and their selection in children with fulminant and chronic hepatitisB, HEPATOLOGY, 29(4), 1999, pp. 1252-1258
Authors:
Kim, J
Prawitt, D
Bardeesy, N
Torban, E
Vicaner, C
Goodyer, P
Zabel, B
Pelletier, J
Citation: J. Kim et al., The Wilms' tumor suppressor gene (wt1) product regulates Dax-1 gene expression during gonadal differentiation, MOL CELL B, 19(3), 1999, pp. 2289-2299