A serine/threonine kinase gene defective in Peutz–Jeghers syndrome

Akseli Hemminki, David Markie, Ian Tomlinson, +19

Nature

Genetic DisorderMedicineGeneticsSerine/threonine Kinase GeneDisease Gene Identification +2

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

Maaret Ridanpää, Hans van Eenennaam, Katarina Pelin, +10

Cell

Cartilage-hair HypoplasiaGeneticsRna BiologyPathologyRnase Mrp Cause +8

Molecular Cloning of a Novel Human CC Chemokine Secondary Lymphoid-Tissue Chemokine That Is a Potent Chemoattractant for Lymphocytes and Mapped to Chromosome 9p13

Morio Nagira, Toshio Imai, Kunio Hieshima, +7

Journal of Biological Chemistry

Mutations in the β-tropomyosin (TPM2) gene – a rare cause of nemaline myopathy

Kati Donner, Miina Ollikainen, Maaret Ridanpää, +4

Neuromuscular Disorders

Rare CauseMedicineMolecular BiologyPathologyCytoskeleton +3

K‐<i>ras</i> mutations in human adenocarcinoma of the lung: Association with smoking and occupational exposure to asbestos

Kirsti Husgafvel‐Pursiainen, Peter Hackman, Maaret Ridanpää, +6

International Journal of Cancer

Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A→G mutation of the untranslated RMRP

Maaret Ridanpää, Pertti Sistonen, Susanna Rockas, +3

European Journal of Human Genetics

Major70a→g MutationGenetic DisorderGeneticsPathologyWorldwide Mutation Spectrum +6

Large genomic rearrangements and germline epimutations in Lynch syndrome

Annette Gylling, Maaret Ridanpää, Outi Vierimaa, +10

International Journal of Cancer

Germline EpimutationsSomatic VariantGenetic DisorderMedicineGenetics +9

p53 antibodies in the sera of lung cancer patients: Comparison with p53 mutation in the tumour tissue

Christopher P. Wild, Maaret Ridanpää, Sisko Anttila, +4

International Journal of Cancer

Detection of Serum p53 Protein in Lung Cancer Patients

Jiin-Chyuan Luo, Ron Zehab, Sisko Anttila, +7

Journal of Occupational and Environmental Medicine

Uniparental Disomy in Cartilage-Hair Hypoplasia

Tuija Sulisalo, Outi Mäkitie, P. Sistonen, +5

European Journal of Human Genetics