Analysis of the COL1A1 and COL1A2 Genes by PCR Amplification and Scanning by Conformation-Sensitive Gel Electrophoresis Identifies Only COL1A1 Mutations in 15 Patients with Osteogenesis Imperfecta Type I: Identification of Common Sequences of Null-Allele Mutations
Körkkö, Jarmo, Ala-Kokko, Leena, De Paepe, Anne, Nuytinck, Lieve, Earley, James, Prockop, Darwin J.
Published in American journal of human genetics (01.01.1998)
Published in American journal of human genetics (01.01.1998)
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Splicing Mutations of 54-bp Exons in the COL11A1 Gene Cause Marshall Syndrome, but Other Mutations Cause Overlapping Marshall/Stickler Phenotypes
Annunen, Susanna, Körkkö, Jarmo, Czarny, Malwina, Warman, Matthew L., Brunner, Han G., Kääriäinen, Helena, Mulliken, John B., Tranebjærg, Lisbeth, Brooks, David G., Cox, Gerald F., Cruysberg, Johan R., Curtis, Mary A., Davenport, Sandra L.H., Friedrich, Christopher A., Kaitila, Ilkka, Krawczynski, Maciej Robert, Latos-Bielenska, Anna, Mukai, Shitzuo, Olsen, Björn R., Shinno, Nancy, Somer, Mirja, Vikkula, Miikka, Zlotogora, Joel, Prockop, Darwin J., Ala-Kokko, Leena
Published in American journal of human genetics (01.10.1999)
Published in American journal of human genetics (01.10.1999)
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Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy)
Körkkö, J, Ritvaniemi, P, Haataja, L, Kääriäinen, H, Kivirikko, K I, Prockop, D J, Ala-Kokko, L
Published in American journal of human genetics (01.07.1993)
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Published in American journal of human genetics (01.07.1993)
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Conformation Sensitive Gel Electrophoresis for Simple and Accurate Detection of Mutations: Comparison with Denaturing Gradient Gel Electrophoresis and Nucleotide Sequencing
Korkko, Jarmo, Annunen, Susanna, Pihlajamaa, Tero, Prockop, Darwin J., Ala-Kokko, Leena
Published in Proceedings of the National Academy of Sciences - PNAS (17.02.1998)
Published in Proceedings of the National Academy of Sciences - PNAS (17.02.1998)
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Novel COL1A1 mutation (G599C) associated with mild osteogenesis imperfecta and dentinogenesis imperfecta
Pallos, D., Hart, P.S., Cortelli, J.R., Vian, S., Wright, J.T., Korkko, J., Brunoni, D., Hart, T.C.
Published in Archives of oral biology (01.05.2001)
Published in Archives of oral biology (01.05.2001)
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Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders
Singh, Tarjinder, Kurki, Mitja I, Curtis, David, Purcell, Shaun M, Crooks, Lucy, McRae, Jeremy, Suvisaari, Jaana, Chheda, Himanshu, Blackwood, Douglas, Breen, Gerome, Pietiläinen, Olli, Gerety, Sebastian S, Ayub, Muhammad, Blyth, Moira, Cole, Trevor, Collier, David, Coomber, Eve L, Craddock, Nick, Daly, Mark J, Danesh, John, DiForti, Marta, Foster, Alison, Freimer, Nelson B, Geschwind, Daniel, Johnstone, Mandy, Joss, Shelagh, Kirov, Georg, Körkkö, Jarmo, Kuismin, Outi, Holmans, Peter, Hultman, Christina M, Iyegbe, Conrad, Lönnqvist, Jouko, Männikkö, Minna, McCarroll, Steve A, McGuffin, Peter, McIntosh, Andrew M, McQuillin, Andrew, Moilanen, Jukka S, Moore, Carmel, Murray, Robin M, Newbury-Ecob, Ruth, Ouwehand, Willem, Paunio, Tiina, Prigmore, Elena, Rees, Elliott, Roberts, David, Sambrook, Jennifer, Sklar, Pamela, St Clair, David, Veijola, Juha, Walters, James T R, Williams, Hywel, Sullivan, Patrick F, Hurles, Matthew E, O'Donovan, Michael C, Palotie, Aarno, Owen, Michael J, Barrett, Jeffrey C
Published in Nature neuroscience (01.04.2016)
Published in Nature neuroscience (01.04.2016)
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Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis
Körkkö, J, Cohn, D H, Ala-Kokko, L, Krakow, D, Prockop, D J
Published in American journal of medical genetics (15.05.2000)
Published in American journal of medical genetics (15.05.2000)
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Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum
Ganna, Andrea, Satterstrom, F. Kyle, Zekavat, Seyedeh M., Das, Indraniel, Kurki, Mitja I., Churchhouse, Claire, Alfoldi, Jessica, Martin, Alicia R., Havulinna, Aki S., Byrnes, Andrea, Thompson, Wesley K., Nielsen, Philip R., Karczewski, Konrad J., Saarentaus, Elmo, Rivas, Manuel A., Gupta, Namrata, Pietiläinen, Olli, Emdin, Connor A., Lescai, Francesco, Bybjerg-Grauholm, Jonas, Flannick, Jason, Mercader, Josep M., Udler, Miriam, Laakso, Markku, Salomaa, Veikko, Hultman, Christina, Ripatti, Samuli, Hämäläinen, Eija, Moilanen, Jukka S., Körkkö, Jarmo, Kuismin, Outi, Nordentoft, Merete, Hougaard, David M., Mors, Ole, Werge, Thomas, Mortensen, Preben Bo, MacArthur, Daniel, Daly, Mark J., Sullivan, Patrick F., Locke, Adam E., Palotie, Aarno, Børglum, Anders D., Kathiresan, Sekar, Neale, Benjamin M.
Published in American journal of human genetics (07.06.2018)
Published in American journal of human genetics (07.06.2018)
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Mapping the Ligand-binding Sites and Disease-associated Mutations on the Most Abundant Protein in the Human, Type I Collagen
Di Lullo, Gloria A., Sweeney, Shawn M., Körkkö, Jarmo, Ala-Kokko, Leena, San Antonio, James D.
Published in The Journal of biological chemistry (08.02.2002)
Published in The Journal of biological chemistry (08.02.2002)
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Two new recurrent nucleotide mutations in the COL1A1 gene in four patients with osteogenesis imperfecta: About one-fifth are recurrent
Körkkö, Jarmo, Kuivaniemi, Helena, Paassilta, Petteri, Zhuang, Jiapiao, Tromp, Gerard, DePaepe, Anne, Prockop, Darwin J., Ala-Kokko, Leena
Published in Human mutation (1997)
Published in Human mutation (1997)
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Identification of COL2A1 gene mutations in patients with chondrodysplasias and familial osteoarthritis
Ritvaniemi, P, Körkkö, J, Bonaventure, J, Vikkula, M, Hyland, J, Paassilta, P, Kaitila, I, Kääriäinen, H, Sokolov, B P, Hakala, M
Published in Arthritis and rheumatism (01.07.1995)
Published in Arthritis and rheumatism (01.07.1995)
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Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS
Bastepe, M, Froehlich, L F, Hendy, G N, Indridason, O S, Josse, R G, Koshiyama, H, Koerkkoe, J, Nakamoto, J M, Rosenbloom, AL, Slyper, AH, Sugimoto, T, Tsatsoulis, A, Crawford, J D, Jueppner, H
Published in The Journal of clinical investigation (01.10.2003)
Published in The Journal of clinical investigation (01.10.2003)
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MicroSAGE Analysis of 2,353 Expressed Genes in a Single Cell‐Derived Colony of Undifferentiated Human Mesenchymal Stem Cells Reveals mRNAs of Multiple Cell Lineages
Tremain, Nicola, Korkko, Jarmo, Ibberson, David, Kopen, Gene C., DiGirolamo, Carla, Phinney, Donald G.
Published in Stem cells (Dayton, Ohio) (01.01.2001)
Published in Stem cells (Dayton, Ohio) (01.01.2001)
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Complete structure of the human COL11A2 gene: the exon sizes and other features indicate the gene has not evolved with genes for other fibriller collagens
Vuoristo, M M, Pihlajamaa, T, Vandenberg, P, Körkkö, J, Prockop, D J, Ala-Kokko, L
Published in Annals of the New York Academy of Sciences (01.06.1996)
Published in Annals of the New York Academy of Sciences (01.06.1996)
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Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients
Hartikka, Heini, Kuurila, Kaija, Körkkö, Jarmo, Kaitila, Ilkka, Grénman, Reidar, Pynnönen, Seppo, Hyland, James C., Ala-Kokko, Leena
Published in Human mutation (01.08.2004)
Published in Human mutation (01.08.2004)
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The incidence of mutations in the COL2A1 gene in patients with cartilage disorders
Ritvaniemi, P., Körkkö, J., Bonaventure, J., Vikkula, M., Kivirikko, K.I., Prockop, D.J., Ala-Kokko, L.
Published in Matrix biology (01.09.1994)
Published in Matrix biology (01.09.1994)
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