Ilona Visapää

Publications by Year

Research Areas

Metabolism and Genetic Disorders, Genomics and Rare Diseases, Pediatric Hepatobiliary Diseases and Treatments, Epigenetics and DNA Methylation, Mitochondrial Function and Pathology

Most-Cited Works

• → Congenital nephrotic syndrome (NPHS1): Features resulting from different mutations in Finnish patients(2000)301 cited
• → GRACILE Syndrome, a Lethal Metabolic Disorder with Iron Overload, Is Caused by a Point Mutation in BCS1L(2002)294 cited
• → Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1(2005)71 cited
• → Assignment of the Locus for Hydrolethalus Syndrome to a Highly Restricted Region on 11q23-25(1999)38 cited
• → Assignment of the Locus for a New Lethal Neonatal Metabolic Syndrome to 2q33-37(1998)24 cited
• → Antenatal diagnosis of hereditary fetal growth retardation with aminoaciduria, cholestasis, iron overload, and lactic acidosis in the newborn infant(2002)20 cited
• → ABCB6 (MTABC3) excluded as the causative gene for the growth retardation syndrome with aminoaciduria, cholestasis, iron overload, and lactacidosis(2002)7 cited
• GRACILE-oireyhtymän tautigeeni paikannettu(2004)
• GRACILE syndrome is caused by a point mutation in BCS1L suggesting a new role of the BCS1L in iron metabolism(2002)
• MOLECULAR GENETICS OF THE GRACILE SYNDROME (Growth Retardation, Aminoaciduria, Cholestasis, Iron overload, Lactacidosis and Early death)(2002)