Works matching IS 10597794 AND DT 2012 AND VI 33 AND IP 9

Results: 12

Locus-specific mutation databases for neurodegenerative brain diseases.

Published in:

Human Mutation, 2012, v. 33, n. 9, p. 1340, doi. 10.1002/humu.22117

By:

Cruts, Marc;
Theuns, Jessie;
Van Broeckhoven, Christine

Publication type:

Article

Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity.

Published in:

Human Mutation, 2012, v. 33, n. 9, p. 1388, doi. 10.1002/humu.22116

By:

Guillem, Flavia;
Kannengiesser, Caroline;
Oudin, Claire;
Lenoir, Anne;
Matak, Pavle;
Donadieu, Jean;
Isidor, Bertrand;
Méchinaud, Francoise;
Aguilar-Martinez, Patricia;
Beaumont, Carole;
Vaulont, Sophie;
Grandchamp, Bernard;
Nicolas, Gael

Publication type:

Article

The inherited ataxias: Genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics.

Published in:

Human Mutation, 2012, v. 33, n. 9, p. 1324, doi. 10.1002/humu.22132

By:

Hersheson, Joshua;
Haworth, Andrea;
Houlden, Henry

Publication type:

Article

Toward a mtDNA locus-specific mutation database using the LOVD platform.

Published in:

Human Mutation, 2012, v. 33, n. 9, p. 1352, doi. 10.1002/humu.22118

By:

Elson, Joanna L.;
Sweeney, Mary G.;
Procaccio, Vincent;
Yarham, John W.;
Salas, Antonio;
Kong, Qing-Peng;
van der Westhuizen, Francois H.;
Pitceathly, Robert D.S.;
Thorburn, David R.;
Lott, Marie T.;
Wallace, Douglas C.;
Taylor, Robert W.;
McFarland, Robert

Publication type:

Article

Ribosome readthrough accounts for secreted full-length factor IX in hemophilia B patients with nonsense mutations.

Published in:

Human Mutation, 2012, v. 33, n. 9, p. 1373, doi. 10.1002/humu.22120

By:

Pinotti, Mirko;
Caruso, Pierpaolo;
Canella, Alessandro;
Campioni, Matteo;
Tagariello, Giuseppe;
Castaman, Giancarlo;
Giacomelli, Sofia;
Belvini, Donata;
Bernardi, Francesco

Publication type:

Article

Dominant-negative STAT1 SH2 domain mutations in unrelated patients with mendelian susceptibility to mycobacterial disease.

Published in:

Human Mutation, 2012, v. 33, n. 9, p. 1377, doi. 10.1002/humu.22113

By:

Tsumura, Miyuki;
Okada, Satoshi;
Sakai, Hidemasa;
Yasunaga, Shin'ichiro;
Ohtsubo, Motoaki;
Murata, Takuji;
Obata, Hideto;
Yasumi, Takahiro;
Kong, Xiao-Fei;
Abhyankar, Avinash;
Heike, Toshio;
Nakahata, Tatsutoshi;
Nishikomori, Ryuta;
Al-Muhsen, Saleh;
Boisson-Dupuis, Stéphanie;
Casanova, Jean-Laurent;
AlZahrani, Mofareh;
Shehri, Mohammed Al;
ElGhazali, Geyhad;
Takihara, Yoshihiro

Publication type:

Article

Databases for neurogenetics: Introduction, overview, and challenges.

Published in:

Human Mutation, 2012, v. 33, n. 9, p. 1311, doi. 10.1002/humu.22164

By:

Sobrido, María-Jesús;
Cacheiro, Pilar;
Carracedo, Ángel;
Bertram, Lars

Publication type:

Article

ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics.

Published in:

Human Mutation, 2012, v. 33, n. 9, p. 1345, doi. 10.1002/humu.22157

By:

Abel, Olubunmi;
Powell, John F;
Andersen, Peter M.;
Al-Chalabi, Ammar

Publication type:

Article

Ontological phenotype standards for neurogenetics.

Published in:

Human Mutation, 2012, v. 33, n. 9, p. 1333, doi. 10.1002/humu.22112

By:

Köhler, Sebastian;
Doelken, Sandra C.;
Rath, Ana;
Aymé, Ségolène;
Robinson, Peter N.

Publication type:

Article

Spinocerebellar ataxias: An example of the challenges associated with genetic databases for dynamic mutations.

Published in:

Human Mutation, 2012, v. 33, n. 9, p. 1359, doi. 10.1002/humu.22156

By:

Martindale, Joanne E.;
Seneca, Sara;
Wieczorek, Stefan;
Sequeiros, Jorge

Publication type:

Article

Developing the 'next generation' of genetic association databases for complex diseases.

Published in:

Human Mutation, 2012, v. 33, n. 9, p. 1366, doi. 10.1002/humu.22149

By:

Lill, Christina M.;
Bertram, Lars

Publication type:

Article

Revisiting genotype-phenotype overlap in neurogenetics: Triplet-repeat expansions mimicking spastic paraplegias.

Published in:

Human Mutation, 2012, v. 33, n. 9, p. 1315, doi. 10.1002/humu.22148

By:

Bettencourt, Conceição;
Quintáns, Beatriz;
Ros, Raquel;
Ampuero, Israel;
Yáñez, Zuleima;
Pascual, Samuel Ignacio;
de Yébenes, Justo García;
Sobrido, María-Jesús

Publication type:

Article