Marjo Kestilä
Finnish Institute for Health and Welfare(FI)
Publications by Year
Research Areas
Renal Diseases and Glomerulopathies, Renal and related cancers, Genetic Syndromes and Imprinting, Genetic and Kidney Cyst Diseases, Cancer-related Molecular Pathways
Most-Cited Works
- → Positionally Cloned Gene for a Novel Glomerular Protein—Nephrin—Is Mutated in Congenital Nephrotic Syndrome(1998)1,858 cited
- → Nephrin is specifically located at the slit diaphragm of glomerular podocytes(1999)756 cited
- → Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts(2000)467 cited
- → Structure of the Gene for Congenital Nephrotic Syndrome of the Finnish Type (NPHS1) and Characterization of Mutations(1999)400 cited
- → Congenital nephrotic syndrome (NPHS1): Features resulting from different mutations in Finnish patients(2000)301 cited
- → MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome(2006)252 cited
- → The mutation spectrum in RECQL4 diseases(2008)231 cited
- → Functional Characterization of Three Novel Tissue-specific Anion Exchangers SLC26A7, -A8, and -A9(2002)222 cited
- → Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene(2005)217 cited
- → Mapping of Five New Putative Anion Transporter Genes in Human and Characterization of SLC26A6, A Candidate Gene for Pancreatic Anion Exchanger(2000)209 cited