Works by Penttinen, Maila

Results: 12

Structural and functional changes in peripheral vasculature of Fabry patients.

Published in:

Journal of Inherited Metabolic Disease, 2006, v. 29, n. 5, p. 660, doi. 10.1007/s10545-006-0340-x

By:

Kalliokoski, Riikka;
Kalliokoski, Kari;
Penttinen, Maila;
Kantola, Ilkka;
Leino, Aila;
Viikari, Jorma;
Simell, Olli;
Nuutila, Pirjo;
Raitakari, Olli

Publication type:

Article

Missense mutations to the TSC1 gene cause tuberous sclerosis complex.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 3, p. 319, doi. 10.1038/ejhg.2008.170

By:

Nellist, Mark;
van den Heuvel, Diana;
Schluep, Diane;
Exalto, Carla;
Goedbloed, Miriam;
Maat-Kievit, Anneke;
van Essen, Ton;
van Spaendonck-Zwarts, Karin;
Jansen, Floor;
Helderman, Paula;
Bartalini, Gabriella;
Vierimaa, Outi;
Penttinen, Maila;
van den Ende, Jenneke;
van den Ouweland, Ans;
Halley, Dicky

Publication type:

Article

Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 8, p. 904, doi. 10.1038/sj.ejhg.5201640

By:

Rinne, Tuula;
Spadoni, Emanuela;
Kjaer, Klaus W.;
Danesino, Cesare;
Larizza, Daniela;
Kock, Marianne;
Huoponen, Kirsi;
Savontaus, Marja-Liisa;
Aaltonen, Markku;
Duijf, Pascal;
Brunner, Han G.;
Penttinen, Maila;
van Bokhoven, Hans

Publication type:

Article

Detection of the founder effect in Finnish CADASIL families.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 10, p. 813, doi. 10.1038/sj.ejhg.5201221

By:

Mykkänen, Kati;
Savontaus, Marja-Liisa;
Juvonen, Vesa;
Sistonen, Pertti;
Tuisku, Seppo;
Tuominen, Susanna;
Penttinen, Maila;
Lundkvist, Johan;
Viitanen, Matti;
Kalimo, Hannu;
Pöyhönen, Minna

Publication type:

Article

Clinical and genetic findings in Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansion.

Published in:

Annals of Neurology, 2000, v. 48, n. 3, p. 354, doi. 10.1002/1531-8249(200009)48:3<354::AID-ANA10>3.0.CO;2-A

By:

Juvonen, Vesa;
Hietala, Marja;
Päivärinta, Markku;
Rantamäki, Maria;
Hakamies, Lauri;
Kaakkola, Seppo;
Vierimaa, Outi;
Penttinen, Maila;
Savontaus, Marja-Liisa

Publication type:

Article

Ring chromosome 20 mosaicism in a girl with complex partial seizures.

Published in:

1994

By:

Holopainen, Irma;
Penttinen, Maila;
Lakkata, Taina;
Ä ärimaa, Tuula;
Holopainen, I;
Penttinen, M;
Lakkala, T;
Aärimaa, T

Publication type:

journal article

Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region.

Published in:

Human Mutation, 2007, v. 28, n. 2, p. 204, doi. 10.1002/humu.9476

By:

Botzenhart, Elke M.;
Bartalini, Gabriella;
Blair, Edward;
Brady, Angela F.;
Elmslie, Frances;
Chong, Karen L.;
Christy, Katie;
Torres-Martinez, Wilfredo;
Danesino, Cesare;
Deardorff, Matthew A.;
Fryns, Jean-Pierre;
Marlin, Sandrine;
Garcia-Minaur, Sixto;
Hellenbroich, Yorck;
Hay, Beverly N.;
Penttinen, Maila;
Shashi, Vandana;
Terhal, Paulien;
Van Maldergem, Lionel;
Whiteford, Margo L.

Publication type:

Article

The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia.

Published in:

Human Mutation, 2001, v. 17, n. 4, p. 349, doi. 10.1002/humu.33

By:

Pääkkönen, Kati;
Cambiaghi, Stefano;
Novelli, Giuseppe;
Ouzts, Lizbeth V.;
Penttinen, Maila;
Kere, Juha;
Srivastava, Anand K.

Publication type:

Article

Tissue distribution of the ND4/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathy.

Published in:

Human Mutation, 1997, v. 9, n. 5, p. 412, doi. 10.1002/(SICI)1098-1004(1997)9:5<412::AID-HUMU6>3.0.CO;2-5

By:

Juvonen, Vesa;
Nikoskelainen, Eeva;
Lamminen, Tarja;
Penttinen, Maila;
Aula, Pertti;
Savontaus, Marja-Liisa

Publication type:

Article

Dissecting the epidemiology of a trinucleotide repeat disease – example of FRDA in Finland.

Published in:

Human Genetics, 2002, v. 110, n. 1, p. 36, doi. 10.1007/s00439-001-0642-x

By:

Juvonen, Vesa;
Kulmala, Satu-Maria;
Ignatius, Jaakko;
Penttinen, Maila;
Savontaus, Marja-Liisa

Publication type:

Article

Prenatal diagnosis of variant late infantile neuronal ceroid lipofuscinosis (vLINCL[Finnish]; CLN5).

Published in:

1999

By:

Rapola, Juhani;
Lähdetie, Jaana;
Isosomppi, Juha;
Helminen, Päivi;
Penttinen, Maila;
Järvelä, Irma;
Rapola, J;
Lähdetie, J;
Isosomppi, J;
Helminen, P;
Penttinen, M;
Järvelä, I

Publication type:

journal article

Early ultrasound diagnosis of fetal intracranial tumors.

Published in:

1994

By:

Palo, Pertti;
Penttinen, Maila;
Kalimo, Hannu;
Palo, P;
Penttinen, M;
Kalimo, H

Publication type:

journal article