Works matching IS 10597794 AND DT 2006 AND VI 27 AND IP 9

Results: 18

Three novel thiopurine S-methyltransferase allelic variants ( TPMT* 20, * 21, * 22) - association with decreased enzyme function.

Published in:

Human Mutation, 2006, v. 27, n. 9, p. 976, doi. 10.1002/humu.9450

By:

Schaeffeler, Elke;
Eichelbaum, Michel;
Reinisch, Walter;
Zanger, Ulrich M.;
Schwab, Matthias

Publication type:

Article

CpG methylation accounts for a recurrent mutation (c.1222C>T) in the human PAH gene.

Published in:

Human Mutation, 2006, v. 27, n. 9, p. 975, doi. 10.1002/humu.9447

By:

Murphy, B.C.;
Scriver, C.R.;
Singh, S.M.

Publication type:

Article

Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha ( HNF1A) and 4 alpha ( HNF4A) in maturity-onset diabetes of the young.

Published in:

Human Mutation, 2006, v. 27, n. 9, p. 854, doi. 10.1002/humu.20357

By:

Ellard, Sian;
Colclough, Kevin

Publication type:

Article

Structural assessment of single amino acid mutations: application to TP53 function.

Published in:

Human Mutation, 2006, v. 27, n. 9, p. 926, doi. 10.1002/humu.20379

By:

Yip, Yum L.;
Zoete, Vincent;
Scheib, Holger;
Michielin, Olivier

Publication type:

Article

Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.

Published in:

Human Mutation, 2006, v. 27, n. 9, p. 946, doi. 10.1002/humu.20370

By:

Lehtokari, Vilma-Lotta;
Pelin, Katarina;
Sandbacka, Maria;
Ranta, Salla;
Donner, Kati;
Muntoni, Francesco;
Sewry, Caroline;
Angelini, Corrado;
Bushby, Kate;
Van den Bergh, Peter;
Iannaccone, Susan;
Laing, Nigel G.;
Wallgren-Pettersson, Carina

Publication type:

Article

Ethnic variation in AMD-associated complement factor H polymorphism p.Tyr402His.

Published in:

Human Mutation, 2006, v. 27, n. 9, p. 921, doi. 10.1002/humu.20359

By:

Grassi, Michael A.;
Fingert, John H.;
Scheetz, Todd E.;
Roos, Benjamin R.;
Ritch, Robert;
West, Sheila K.;
Kawase, Kazuhide;
Shire, Abdirashid M.;
Mullins, Robert F.;
Stone, Edwin M.

Publication type:

Article

An automated procedure to identify biomedical articles that contain cancer-associated gene variants.

Published in:

Human Mutation, 2006, v. 27, n. 9, p. 957, doi. 10.1002/humu.20363

By:

McDonald, Ryan;
Scott Winters, R.;
Ankuda, Claire K.;
Murphy, Joan A.;
Rogers, Amy E.;
Pereira, Fernando;
Greenblatt, Marc S.;
White, Peter S.

Publication type:

Article

Duplications in the DMD gene.

Published in:

Human Mutation, 2006, v. 27, n. 9, p. 938, doi. 10.1002/humu.20367

By:

White, S.J.;
Aartsma-Rus, A.;
Flanigan, K.M.;
Weiss, R.B.;
Kneppers, A.L.J.;
Lalic, T.;
Janson, A.A.M.;
Ginjaar, H.B.;
Breuning, M.H.;
den Dunnen, J.T.

Publication type:

Article

Acute myelogenous leukemia-derived SMAD4 mutations target the protein to ubiquitin-proteasome degradation.

Published in:

Human Mutation, 2006, v. 27, n. 9, p. 897, doi. 10.1002/humu.20387

By:

Yang, Lei;
Wang, Ning;
Tang, Yi;
Cao, Xu;
Wan, Mei

Publication type:

Article

Variable pathogenic potentials of mutations located in the desmin alpha-helical domain.

Published in:

Human Mutation, 2006, v. 27, n. 9, p. 906, doi. 10.1002/humu.20351

By:

Goudeau, Bertrand;
Rodrigues-Lima, Fernando;
Fischer, Dirk;
Casteras-Simon, Monique;
Sambuughin, Nyamkhishig;
de Visser, Marianne;
Laforet, Pascal;
Ferrer, Xavier;
Chapon, Françoise;
Sjöberg, Gunnar;
Kostareva, Anna;
Sejersen, Thomas;
Dalakas, Marinos C.;
Goldfarb, Lev G.;
Vicart, Patrick

Publication type:

Article

Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations.

Published in:

Human Mutation, 2006, v. 27, n. 9, p. 975, doi. 10.1002/humu.9449

By:

Borozdin, Wiktor;
Bravo Ferrer Acosta, Ana M.;
Bamshad, Michael J.;
Botzenhart, Elke M.;
Froster, Ursula G.;
Lemke, Johannes;
Schinzel, Albert;
Spranger, Stephanie;
McGaughran, Julie;
Wand, Dorothea;
Chrzanowska, Krystyna H.;
Kohlhase, Jürgen

Publication type:

Article

Alzheimer dementia caused by a novel mutation located in the APP C-terminal intracytosolic fragment.

Published in:

Human Mutation, 2006, v. 27, n. 9, p. 888, doi. 10.1002/humu.20402

By:

Theuns, J.;
Marjaux, E.;
Vandenbulcke, M.;
Van Laere, K.;
Kumar-Singh, S.;
Bormans, G.;
Brouwers, N.;
Van den Broeck, M.;
Vennekens, K.;
Corsmit, E.;
Cruts, M.;
De Strooper, B.;
Van Broeckhoven, C.;
Vandenberghe, R.

Publication type:

Article

Mutations in the BH<sub>4</sub>-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase.

Published in:

Human Mutation, 2006, v. 27, n. 9, p. 870, doi. 10.1002/humu.20366

By:

Thöny, Beat;
Blau, Nenad

Publication type:

Article

Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients.

Published in:

Human Mutation, 2006, v. 27, n. 9, p. 914, doi. 10.1002/humu.20350

By:

Suls, Arvid;
Claeys, Kristl G.;
Goossens, Dirk;
Harding, Boris;
Luijk, Rob Van;
Scheers, Stefaan;
Deprez, Liesbet;
Audenaert, Dominique;
Dyck, Tine Van;
Beeckmans, Sabine;
Smouts, Iris;
Ceulemans, Berten;
Lagae, Lieven;
Buyse, Gunnar;
Barisic, Nina;
Misson, Jean-Paul;
Wauters, Jan;
Del-Favero, Jurgen;
De Jonghe, Peter;
Claes, Lieve R.F.

Publication type:

Article

Population distribution of the functional caspase-12 allele.

Published in:

Human Mutation, 2006, v. 27, n. 9, p. 975, doi. 10.1002/humu.9448

By:

Kachapati, Kritika;
O'Brien, Thomas R.;
Bergeron, Julie;
Zhang, Mingdong;
Dean, Michael

Publication type:

Article

Human mtDNA site-specific variability values can act as haplogroup markers.

Published in:

Human Mutation, 2006, v. 27, n. 9, p. 965, doi. 10.1002/humu.20365

By:

Accetturo, Matteo;
Santamaria, Monica;
Lascaro, Daniela;
Rubino, Francesco;
Achilli, Alessandro;
Torroni, Antonio;
Tommaseo-Ponzetta, Mila;
Attimonelli, Marcella

Publication type:

Article

National and ethnic mutation databases: recording populations' genography.

Published in:

Human Mutation, 2006, v. 27, n. 9, p. 879, doi. 10.1002/humu.20376

By:

Patrinos, George P.

Publication type:

Article

Major affective disorders and schizophrenia: a common molecular signature?

Published in:

Human Mutation, 2006, v. 27, n. 9, p. 833, doi. 10.1002/humu.20369

By:

Bogaert, Ann Van Den;
Del-Favero, Jurgen;
Broeckhoven, Christine Van

Publication type:

Article