Low density lipoprotein receptor-related protein 5 (LRP5) mutations and osteoporosis, impaired glucose metabolism and hypercholesterolaemia
Saarinen, Anne, Saukkonen, Tero, Kivelä, Tero, Lahtinen, Ulla, Laine, Christine, Somer, Mirja, Toiviainen-Salo, Sanna, Cole, William G., Lehesjoki, Anna-Elina, Mäkitie, Outi
Published in Clinical endocrinology (Oxford) (01.04.2010)
Published in Clinical endocrinology (Oxford) (01.04.2010)
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Journal Article
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
Kolehmainen, Juha, Black, Graeme C.M., Saarinen, Anne, Chandler, Kate, Clayton-Smith, Jill, Träskelin, Ann-Liz, Perveen, Rahat, Kivitie-Kallio, Satu, Norio, Reijo, Warburg, Mette, Fryns, Jean-Pierre, Chapelle, Albert de la, Lehesjoki, Anna-Elina
Published in American journal of human genetics (01.06.2003)
Published in American journal of human genetics (01.06.2003)
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Journal Article
Body Composition and Bone Mineral Density in Children with Premature Adrenarche and the Association of LRP5 Gene Polymorphisms with Bone Mineral Density
Utriainen, Pauliina, Jääskeläinen, Jarmo, Saarinen, Anne, Vanninen, Esko, Mäkitie, Outi, Voutilainen, Raimo
Published in The journal of clinical endocrinology and metabolism (01.11.2009)
Published in The journal of clinical endocrinology and metabolism (01.11.2009)
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Journal Article
The A1330V polymorphism of the low-density lipoprotein receptor-related protein 5 gene ( LRP5 ) associates with low peak bone mass in young healthy men
Saarinen, Anne, Välimäki, Ville-Valtteri, Välimäki, Matti J, Löyttyniemi, Eliisa, Auro, Kirsi, Uusen, Piia, Kuris, Mairi, Lehesjoki, Anna-Elina, Mäkitie, Outi
Published in Bone (New York, N.Y.) (01.04.2007)
Published in Bone (New York, N.Y.) (01.04.2007)
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Journal Article
Low-density lipoprotein receptor-related protein 5 ( LRP5 ) variation in fracture prone children
Saarinen, Anne, Mäyränpää, Mervi K, Lehesjoki, Anna-Elina, Mäkitie, Outi
Published in Bone (New York, N.Y.) (01.04.2010)
Published in Bone (New York, N.Y.) (01.04.2010)
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Journal Article
Delineation of Cohen Syndrome Following a Large-Scale Genotype-Phenotype Screen
Kolehmainen, Juha, Wilkinson, Robert, Lehesjoki, Anna-Elina, Chandler, Kate, Kivitie-Kallio, Satu, Clayton-Smith, Jill, Träskelin, Ann-Liz, Waris, Laura, Saarinen, Anne, Khan, Jabbar, Gross-Tsur, Varda, Traboulsi, Elias I., Warburg, Mette, Fryns, Jean-Pierre, Norio, Reijo, C. M. Black, Graeme, D. C. Manson, Forbes
Published in American journal of human genetics (01.07.2004)
Published in American journal of human genetics (01.07.2004)
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Journal Article
Cerebroretinal microangiopathy with calcifications and cysts: Characterization of the skeletal phenotype
Toiviainen-Salo, Sanna, Linnankivi, Tarja, Saarinen, Anne, Mäyränpää, Mervi K., Karikoski, Riitta, Mäkitie, Outi
Published in American journal of medical genetics. Part A (01.06.2011)
Published in American journal of medical genetics. Part A (01.06.2011)
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Journal Article
Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia
de la Chapelle, Albert, Tanner, Stephan M, Aminoff, Maria, Wright, Fred A, Liyanarachchi, Sandya, Kuronen, Mervi, Saarinen, Anne, Massika, Orit, Mandel, Hanna, Broch, Harald
Published in Nature genetics (01.03.2003)
Published in Nature genetics (01.03.2003)
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Journal Article
No disease-causing mutations in LRP6 or PTHrP found in 26 patients with juvenile idiopathic osteoporosis
Koltin, Dror, Laine, Christine M, Saarinen, Anne, Susic, Miki, Parker, Kathy, G. Cole, William, Sochett, Etienne, Makitie, Outi
Published in BONE (2008)
Published in BONE (2008)
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