L Kádasi

The origin of the major cystic fibrosis mutation (ΔF508) in European populations

Núria Morral, Jaume Bertranpetit, Xavier Estivill et al. · Nature Genetics · 1994 · 343 citations

Fibrosis, Mendelian Disorder, Genetic Disorder +11

Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign

Joshua D. Groman, Timothy Hefferon, Teresa Casals et al. · The American Journal of Human Genetics · 2004 · 248 citations · Full text

Molecular Diagnostic Techniques, Molecular Physiology, Disease Mechanism +10

Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma

Martina Plášilová, Ivaylo Stoilov, Mansoor Sarfarazi et al. · Journal of Medical Genetics · 1999 · 174 citations · Full text

Biology, Cytochrome P450 Molecule, Allelic Variant +13

High Frequency of Alkaptonuria in Slovakia: Evidence for the Appearance of Multiple Mutations in HGO Involving Different Mutational Hot Spots

Andrea Zaťková, Daniel Beltrán Valero de Bernabé, H Poláková et al. · The American Journal of Human Genetics · 2000 · 93 citations · Full text

Biology, Allelic Variant, Mendelian Disorder +7

Linkage of Autosomal Recessive Primary Congenital Glaucoma to the GLC3A Locus in Roms (Gypsies) from Slovakia

Martina Plášilová, Eva Feráková, L Kádasi et al. · Human Heredity · 1998 · 55 citations