Anne Saarinen

Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport

Juha Kolehmainen, Graeme C. Black, Anne Saarinen et al. · The American Journal of Human Genetics · 2003 · 373 citations · Full text

Cohen Syndrome Is, Molecular Physiology, Disease Mechanism +10

Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia

Stephan M. Tanner, Maria Aminoff, Fred A. Wright et al. · Nature Genetics · 2003 · 150 citations

Knockout Mouse, Developmental Biology, Genetic Disorder +6

Delineation of Cohen Syndrome Following a Large-Scale Genotype-Phenotype Screen

Juha Kolehmainen, Robert N. Wilkinson, Anna-Elina Lehesjoki et al. · The American Journal of Human Genetics · 2004 · 122 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +3

Low density lipoprotein receptor‐related protein 5 (<i>LRP5</i>) mutations and osteoporosis, impaired glucose metabolism and hypercholesterolaemia

Anne Saarinen, Tero Saukkonen, Tero Kivelä et al. · Clinical Endocrinology · 2009 · 88 citations

The A1330V polymorphism of the low-density lipoprotein receptor-related protein 5 gene (LRP5) associates with low peak bone mass in young healthy men

Anne Saarinen, Ville‐Valtteri Välimäki, Matti Välimäki et al. · Bone · 2007 · 70 citations

Bone Disease, Bone Health, A1330v Polymorphism +7