Clinical utility gene card for: Meckel syndrome

Por Salonen, R, Kestilä, M, Bergmann, C
Publicado em 2011

Congenital nephrotic syndrome of the Finnish type maps to the long arm of chromosome 19.

Por Kestilä, M., Männikkö, M., Holmberg, C., Gyapay, G., Weissenbach, J., Savolainen, E. R., Peltonen, L., Tryggvason, K.
Publicado em 1994

Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses.

Por Savukoski, M., Kestilä, M., Williams, R., Järvelä, I., Sharp, J., Harris, J., Santavuori, P., Gardiner, M., Peltonen, L.
Publicado em 1994

A genome scan for developmental dyslexia confirms linkage to chromosome 2p11 and suggests a new locus on 7q32

Por Kaminen, N, Hannula-Jouppi, K, Kestila, M, Lahermo, P, Muller, K, Kaaranen, M, Myllyluoma, B, Voutilainen, A, Lyytinen, H, Nopola-Hemmi, J, Kere, J
Publicado em 2003

Assignment of the locus for PLO-SL, a frontal-lobe dementia with bone cysts, to 19q13.

Por Pekkarinen, P, Hovatta, I, Hakola, P, Järvi, O, Kestilä, M, Lenkkeri, U, Adolfsson, R, Holmgren, G, Nylander, P O, Tranebjaerg, L, Terwilliger, J D, Lönnqvist, J, Peltonen, L
Publicado em 1998

Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.

Por Lenkkeri, U, Männikkö, M, McCready, P, Lamerdin, J, Gribouval, O, Niaudet, P M, Antignac C, K, Kashtan, C E, Homberg, C, Olsen, A, Kestilä, M, Tryggvason, K
Publicado em 1999

Revisiting the craniosynostosis‐radial ray hypoplasia association: Baller‐Gerold syndrome caused by mutations in the RECQL4 gene

Por Van Maldergem, L, Siitonen, H A, Jalkh, N, Chouery, E, De Roy, M, Delague, V, Muenke, M, Jabs, E W, Cai, J, Wang, L L, Plon, S E, Fourneau, C, Kestilä, M, Gillerot, Y, Mégarbané, A, Verloes, A
Publicado em 2006