Works by Körkkö, Jarmo

Results: 7

Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease.

Published in:

Frontiers in Neuroscience, 2023, p. 01, doi. 10.3389/fnins.2023.1123327

By:

Tallgren, Antti;
Kager, Leo;
O'Grady, Gina;
Tuominen, Hannu;
Körkkö, Jarmo;
Kuismin, Outi;
Feucht, Martha;
Wilson, Callum;
Behunova, Jana;
England, Eleina;
Kurki, Mitja I.;
Palotie, Aarno;
Hallman, Mikko;
Kaarteenaho, Riitta;
Laccone, Franco;
Boztug, Kaan;
Hinttala, Reetta;
Uusimaa, Johanna

Publication type:

Article

Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

Published in:

Human Mutation, 2007, v. 28, n. 3, p. 209, doi. 10.1002/humu.20429

By:

Marini, Joan C.;
Forlino, Antonella;
Cabral, Wayne A.;
Barnes, Aileen M.;
San Antonio, James D.;
Milgrom, Sarah;
Hyland, James C.;
Körkkö, Jarmo;
Prockop, Darwin J.;
De Paepe, Anne;
Coucke, Paul;
Symoens, Sofie;
Glorieux, Francis H.;
Roughley, Peter J.;
Lund, Alan M.;
Kuurila-Svahn, Kaija;
Hartikka, Heini;
Cohn, Daniel H.;
Krakow, Deborah;
Mottes, Monica

Publication type:

Article

Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients.

Published in:

Human Mutation, 2004, v. 24, n. 5, p. 437, doi. 10.1002/humu.20108

By:

Hartikka, Heini;
Kuurila, Kaija;
Körkkö, Jarmo;
Kaitila, Ilkka;
Grénman, Reidar;
Pynnönen, Seppo;
Hyland, James C.;
Ala-Kokko, Leena

Publication type:

Article

Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients.

Published in:

Human Mutation, 2004, v. 24, n. 2, p. 147, doi. 10.1002/humu.20071

By:

Hartikka, Heini;
Kuurila, Kaija;
Körkkö, Jarmo;
Kaitila, Ilkka;
Grénman, Reidar;
Pynnönen, Seppo;
Hyland, James C.;
Ala-Kokko, Leena

Publication type:

Article

Use of conformation sensitive gel electrophoresis to detect single-base changes in the gene for COL10A1.

Published in:

Human Mutation, 1998, v. 11, p. S201, doi. 10.1002/humu.1380110165

By:

Körkkö, Jarmo;
Milunsky, Jeffrey;
Prockop, Darwin J.;
Ala-Kokko, Leena

Publication type:

Article

Two new recurrent nucleotide mutations in the COL1A1 gene in four patients with osteogenesis imperfecta: About one-fifth are recurrent.

Published in:

Human Mutation, 1997, v. 9, n. 2, p. 148, doi. 10.1002/(SICI)1098-1004(1997)9:2<148::AID-HUMU7>3.0.CO;2-5

By:

Körkkö, Jarmo;
Kuivaniemi, Helena;
Paassilta, Petteri;
Zhuang, Jiapiao;
Tromp, Gerard;
DePaepe, Anne;
Prockop, Darwin J.;
Ala-Kokko, Leena

Publication type:

Article

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.

Published in:

Annals of the New York Academy of Sciences, 1996, v. 785, n. 1, p. 343, doi. 10.1111/j.1749-6632.1996.tb56304.x

By:

Vuoristo, Mirka M.;
Pihlajamaa, Tero;
Vandenberg, Philipp;
Körkkö, Jarmo;
Prockop, Darwin J.;
Ala-Kokko, Leena

Publication type:

Article