Katja Hilbert

Mutations in MMP9 and MMP13 Determine the Mode of Inheritance and the Clinical Spectrum of Metaphyseal Anadysplasia

Ekkehart Lausch, Romy Keppler, Katja Hilbert et al. · The American Journal of Human Genetics · 2009 · 91 citations · Full text

Life Sciences, Genetics, Molecular Genetics +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

Andreas Zankl, Luitgard M. Neumann, J. Ignatius et al. · American Journal of Medical Genetics Part A · 2005 · 68 citations

Medicine, Genetics, Molecular Genetics +17

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

Andreas Winterpacht, Katja Hilbert, Christiane Stelzer et al. · Physiological Genomics · 2000 · 66 citations

Life Sciences, Genetics, Molecular Genetics +13

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

Thorsten Enklaar, Marion Eßwein, Monika Oswald et al. · Genomics · 2000 · 49 citations

Medicine, Genetics, Molecular Genetics +6

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

Bernhard Zabel, Katja Hilbert, H Stöß et al. · American Journal of Medical Genetics · 1996 · 47 citations

Medicine, Genetics, Molecular Genetics +13