Hilbert K - Search Results

1

Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia.

Lausch E, Keppler R, Hilbert K, Cormier-Daire V, Nikkel S, Nishimura G, Unger S, Spranger J, Superti-Furga A, Zabel B. Lausch E, et al. Among authors: hilbert k. Am J Hum Genet. 2009 Aug;85(2):168-78. doi: 10.1016/j.ajhg.2009.06.014. Epub 2009 Jul 16. Am J Hum Genet. 2009. PMID: 19615667 Free PMC article.

2

A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia.

Zabel B, Hilbert K, Stöss H, Superti-Furga A, Spranger J, Winterpacht A. Zabel B, et al. Among authors: hilbert k. Am J Med Genet. 1996 May 3;63(1):123-8. doi: 10.1002/(SICI)1096-8628(19960503)63:1<123::AID-AJMG22>3.0.CO;2-P. Am J Med Genet. 1996. PMID: 8723097

3

Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1.

Zankl A, Zabel B, Hilbert K, Wildhardt G, Cuenot S, Xavier B, Ha-Vinh R, Bonafé L, Spranger J, Superti-Furga A. Zankl A, et al. Among authors: hilbert k. Am J Med Genet A. 2004 Aug 30;129A(2):144-8. doi: 10.1002/ajmg.a.30222. Am J Med Genet A. 2004. PMID: 15316962

4

Non-radioactive multiplex-SSCP analysis: detection of a new type II procollagen gene (COL2A1) mutation.

Winterpacht A, Hilbert K, Schwarze U, Zabel B. Winterpacht A, et al. Among authors: hilbert k. Hum Genet. 1995 Apr;95(4):437-9. doi: 10.1007/BF00208971. Hum Genet. 1995. PMID: 7705841

5

Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies.

Zankl A, Neumann L, Ignatius J, Nikkels P, Schrander-Stumpel C, Mortier G, Omran H, Wright M, Hilbert K, Bonafé L, Spranger J, Zabel B, Superti-Furga A. Zankl A, et al. Among authors: hilbert k. Am J Med Genet A. 2005 Feb 15;133A(1):61-7. doi: 10.1002/ajmg.a.30531. Am J Med Genet A. 2005. PMID: 15643621

6

Human fibroblast growth factor receptor 3 gene (FGFR3): genomic sequence and primer set information for gene analysis.

Wüchner C, Hilbert K, Zabel B, Winterpacht A. Wüchner C, et al. Among authors: hilbert k. Hum Genet. 1997 Aug;100(2):215-9. doi: 10.1007/s004390050493. Hum Genet. 1997. PMID: 9254852

7

Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene.

Szczaluba K, Hilbert K, Obersztyn E, Zabel B, Mazurczak T, Kozlowski K. Szczaluba K, et al. Among authors: hilbert k. Am J Med Genet A. 2005 Nov 1;138(4):379-83. doi: 10.1002/ajmg.a.30969. Am J Med Genet A. 2005. PMID: 16222676

8

A novel mutation in FGFR-3 disrupts a putative N-glycosylation site and results in hypochondroplasia.

Winterpacht A, Hilbert K, Stelzer C, Schweikardt T, Decker H, Segerer H, Spranger J, Zabel B. Winterpacht A, et al. Among authors: hilbert k. Physiol Genomics. 2000 Jan 24;2(1):9-12. doi: 10.1152/physiolgenomics.2000.2.1.9. Physiol Genomics. 2000. PMID: 11015576

9

Two different PAX3 gene mutations causing Waardenburg syndrome type I.

Wildhardt G, Winterpacht A, Hilbert K, Menger H, Zabel B. Wildhardt G, et al. Among authors: hilbert k. Mol Cell Probes. 1996 Jun;10(3):229-31. doi: 10.1006/mcpr.1996.0032. Mol Cell Probes. 1996. PMID: 8799378

10

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.

Enklaar T, Esswein M, Oswald M, Hilbert K, Winterpacht A, Higgins M, Zabel B, Prawitt D. Enklaar T, et al. Among authors: hilbert k. Genomics. 2000 Jul 15;67(2):179-87. doi: 10.1006/geno.2000.6234. Genomics. 2000. PMID: 10903843

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