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Items: 1 to 20 of 22

1.

Characterization of all possible single-nucleotide change caused amino acid substitutions in the kinase domain of Bruton tyrosine kinase.

Väliaho J, Faisal I, Ortutay C, Smith CI, Vihinen M.

Hum Mutat. 2015 Jun;36(6):638-47. doi: 10.1002/humu.22791. Epub 2015 Apr 27.

PMID:
25777788
2.

Label-free and rapid electrical detection of hTSH with CMOS-compatible silicon nanowire transistor arrays.

Lu N, Dai P, Gao A, Valiaho J, Kallio P, Wang Y, Li T.

ACS Appl Mater Interfaces. 2014 Nov 26;6(22):20378-84. doi: 10.1021/am505915y. Epub 2014 Nov 5.

PMID:
25338002
3.

Mug handle affordance and automatic response inhibition: behavioural and electrophysiological evidence.

Vainio L, Ala-Salomäki H, Huovilainen T, Nikkinen H, Salo M, Väliaho J, Paavilainen P.

Q J Exp Psychol (Hove). 2014;67(9):1697-719. doi: 10.1080/17470218.2013.868007. Epub 2014 Jan 13.

PMID:
24266417
4.

Structure-function analysis indicates that sumoylation modulates DNA-binding activity of STAT1.

Grönholm J, Vanhatupa S, Ungureanu D, Väliaho J, Laitinen T, Valjakka J, Silvennoinen O.

BMC Biochem. 2012 Oct 8;13:20. doi: 10.1186/1471-2091-13-20.

5.

PON-P: integrated predictor for pathogenicity of missense variants.

Olatubosun A, Väliaho J, Härkönen J, Thusberg J, Vihinen M.

Hum Mutat. 2012 Aug;33(8):1166-74. doi: 10.1002/humu.22102. Epub 2012 May 7.

PMID:
22505138
6.

IDR knowledge base for primary immunodeficiencies.

Samarghitean C, Väliaho J, Vihinen M.

Immunome Res. 2007 Mar 29;3:6.

7.

PhenCode: connecting ENCODE data with mutations and phenotype.

Giardine B, Riemer C, Hefferon T, Thomas D, Hsu F, Zielenski J, Sang Y, Elnitski L, Cutting G, Trumbower H, Kern A, Kuhn R, Patrinos GP, Hughes J, Higgs D, Chui D, Scriver C, Phommarinh M, Patnaik SK, Blumenfeld O, Gottlieb B, Vihinen M, Väliaho J, Kent J, Miller W, Hardison RC.

Hum Mutat. 2007 Jun;28(6):554-62.

PMID:
17326095
8.

Immunodeficiency mutation databases (IDbases).

Piirilä H, Väliaho J, Vihinen M.

Hum Mutat. 2006 Dec;27(12):1200-8. Review.

PMID:
17004234
9.

BTKbase: the mutation database for X-linked agammaglobulinemia.

Väliaho J, Smith CI, Vihinen M.

Hum Mutat. 2006 Dec;27(12):1209-17. Review.

PMID:
16969761
10.

Distribution of immunodeficiency fact files with XML--from Web to WAP.

Väliaho J, Riikonen P, Vihinen M.

BMC Med Inform Decis Mak. 2005 Jun 26;5:21.

11.

KinMutBase: a registry of disease-causing mutations in protein kinase domains.

Ortutay C, Väliaho J, Stenberg K, Vihinen M.

Hum Mutat. 2005 May;25(5):435-42.

PMID:
15832311
12.

Bruton's tyrosine kinase: cell biology, sequence conservation, mutation spectrum, siRNA modifications, and expression profiling.

Lindvall JM, Blomberg KE, Väliaho J, Vargas L, Heinonen JE, Berglöf A, Mohamed AJ, Nore BF, Vihinen M, Smith CI.

Immunol Rev. 2005 Feb;203:200-15. Review.

PMID:
15661031
13.

Online registry of genetic and clinical immunodeficiency diagnostic laboratories, IDdiagnostics.

Samarghitean C, Väliaho J, Vihinen M.

J Clin Immunol. 2004 Jan;24(1):53-61.

PMID:
14997034
14.

IDR: the ImmunoDeficiency Resource.

Väliaho J, Pusa M, Ylinen T, Vihinen M.

Nucleic Acids Res. 2002 Jan 1;30(1):232-4.

15.

The mutational spectrum of human malignant autosomal recessive osteopetrosis.

Sobacchi C, Frattini A, Orchard P, Porras O, Tezcan I, Andolina M, Babul-Hirji R, Baric I, Canham N, Chitayat D, Dupuis-Girod S, Ellis I, Etzioni A, Fasth A, Fisher A, Gerritsen B, Gulino V, Horwitz E, Klamroth V, Lanino E, Mirolo M, Musio A, Matthijs G, Nonomaya S, Notarangelo LD, Ochs HD, Superti Furga A, Valiaho J, van Hove JL, Vihinen M, Vujic D, Vezzoni P, Villa A.

Hum Mol Genet. 2001 Aug 15;10(17):1767-73.

PMID:
11532986
16.

Novel immunodeficiency data servers.

Väliaho J, Riikonen P, Vihinen M.

Immunol Rev. 2000 Dec;178:177-85. Review.

PMID:
11213802
17.

V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.

Villa A, Sobacchi C, Notarangelo LD, Bozzi F, Abinun M, Abrahamsen TG, Arkwright PD, Baniyash M, Brooks EG, Conley ME, Cortes P, Duse M, Fasth A, Filipovich AM, Infante AJ, Jones A, Mazzolari E, Muller SM, Pasic S, Rechavi G, Sacco MG, Santagata S, Schroeder ML, Seger R, Strina D, Ugazio A, Väliaho J, Vihinen M, Vogler LB, Ochs H, Vezzoni P, Friedrich W, Schwarz K.

Blood. 2001 Jan 1;97(1):81-8.

18.

Primary immunodeficiency mutation databases.

Vihinen M, Arredondo-Vega FX, Casanova JL, Etzioni A, Giliani S, Hammarström L, Hershfield MS, Heyworth PG, Hsu AP, Lähdesmäki A, Lappalainen I, Notarangelo LD, Puck JM, Reith W, Roos D, Schumacher RF, Schwarz K, Vezzoni P, Villa A, Väliaho J, Smith CI.

Adv Genet. 2001;43:103-88. Review.

PMID:
11037300
19.

Structure-function effects in primary immunodeficiencies.

Korpi M, Väliaho J, Vihinen M.

Scand J Immunol. 2000 Sep;52(3):226-32. Review.

20.

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