Ilkka Kaitila

The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping

Johanna Hästbacka, Albert de la Chapelle, Melanie M. Mahtani et al. · Cell · 1994 · 761 citations

Natural Sciences, Genetics, Dna Replication +7

Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland

Johanna Hästbacka, Albert de la Chapelle, Ilkka Kaitila et al. · Nature Genetics · 1992 · 565 citations

Biology, Linkage Disequilibrium, Diastrophic Dysplasia +10

Mutations in the RNA Component of RNase MRP Cause a Pleiotropic Human Disease, Cartilage-Hair Hypoplasia

Maaret Ridanpää, Hans van Eenennaam, Katarina Pelin et al. · Cell · 2001 · 509 citations

Cartilage-hair Hypoplasia, Genetics, Rna Biology +10

Achondroplasia is defined by recurrent G380R mutations of FGFR3.

Gary A. Bellus, Timothy Hefferon, Rosa Isela Ortiz De Luna et al. · PubMed · 1995 · 482 citations

A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia

Gary A. Bellus, Iain McIntosh, Elizabeth A. Smith et al. · Nature Genetics · 1995 · 475 citations

Recurrent Mutation, Signal Transduction, Bone Morphogenic Protein +8