Zabel B - Search Results

1

Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome.

Morello R, Zhou G, Dreyer SD, Harvey SJ, Ninomiya Y, Thorner PS, Miner JH, Cole W, Winterpacht A, Zabel B, Oberg KC, Lee B. Morello R, et al. Among authors: zabel b. Nat Genet. 2001 Feb;27(2):205-8. doi: 10.1038/84853. Nat Genet. 2001. PMID: 11175791

2

Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome.

Dreyer SD, Zhou G, Baldini A, Winterpacht A, Zabel B, Cole W, Johnson RL, Lee B. Dreyer SD, et al. Among authors: zabel b. Nat Genet. 1998 May;19(1):47-50. doi: 10.1038/ng0598-47. Nat Genet. 1998. PMID: 9590287

3

Mutation analysis of LMX1B gene in nail-patella syndrome patients.

McIntosh I, Dreyer SD, Clough MV, Dunston JA, Eyaid W, Roig CM, Montgomery T, Ala-Mello S, Kaitila I, Winterpacht A, Zabel B, Frydman M, Cole WG, Francomano CA, Lee B. McIntosh I, et al. Among authors: zabel b. Am J Hum Genet. 1998 Dec;63(6):1651-8. doi: 10.1086/302165. Am J Hum Genet. 1998. PMID: 9837817 Free PMC article.

4

LMX1B transactivation and expression in nail-patella syndrome.

Dreyer SD, Morello R, German MS, Zabel B, Winterpacht A, Lunstrum GP, Horton WA, Oberg KC, Lee B. Dreyer SD, et al. Among authors: zabel b. Hum Mol Genet. 2000 Apr 12;9(7):1067-74. doi: 10.1093/hmg/9.7.1067. Hum Mol Genet. 2000. PMID: 10767331

5

Lmx1b expression during joint and tendon formation: localization and evaluation of potential downstream targets.

Dreyer SD, Naruse T, Morello R, Zabel B, Winterpacht A, Johnson RL, Lee B, Oberg KC. Dreyer SD, et al. Among authors: zabel b. Gene Expr Patterns. 2004 Jul;4(4):397-405. doi: 10.1016/j.modgep.2004.01.006. Gene Expr Patterns. 2004. PMID: 15183306

6

Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia.

Hermanns P, Bertuch AA, Bertin TK, Dawson B, Schmitt ME, Shaw C, Zabel B, Lee B. Hermanns P, et al. Among authors: zabel b. Hum Mol Genet. 2005 Dec 1;14(23):3723-40. doi: 10.1093/hmg/ddi403. Epub 2005 Oct 27. Hum Mol Genet. 2005. PMID: 16254002

7

Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome.

Schlaubitz S, Yatsenko SA, Smith LD, Keller KL, Vissers LE, Scott DA, Cai WW, Reardon W, Abdul-Rahman OA, Lammer EJ, Lifchez CA, Magenis E, Veltman JA, Stankiewicz P, Zabel BU, Lee B. Schlaubitz S, et al. Among authors: zabel bu. Am J Med Genet A. 2007 May 15;143A(10):1071-81. doi: 10.1002/ajmg.a.31685. Am J Med Genet A. 2007. PMID: 17431898

8

Expression profiling of human fetal growth plate cartilage by EST sequencing.

Tagariello A, Schlaubitz S, Hankeln T, Mohrmann G, Stelzer C, Schweizer A, Hermanns P, Lee B, Schmidt ER, Winterpacht A, Zabel B. Tagariello A, et al. Among authors: zabel b. Matrix Biol. 2005 Dec;24(8):530-8. doi: 10.1016/j.matbio.2005.08.002. Epub 2005 Sep 19. Matrix Biol. 2005. PMID: 16176871

9

Brachy-syndactyly caused by loss of Sfrp2 function.

Morello R, Bertin TK, Schlaubitz S, Shaw CA, Kakuru S, Munivez E, Hermanns P, Chen Y, Zabel B, Lee B. Morello R, et al. Among authors: zabel b. J Cell Physiol. 2008 Oct;217(1):127-37. doi: 10.1002/jcp.21483. J Cell Physiol. 2008. PMID: 18446812 Free PMC article.

10

Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect.

Winterpacht A, Hilbert M, Schwarze U, Mundlos S, Spranger J, Zabel BU. Winterpacht A, et al. Among authors: zabel bu. Nat Genet. 1993 Apr;3(4):323-6. doi: 10.1038/ng0493-323. Nat Genet. 1993. PMID: 7981752

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