Works matching IS 10597794 AND DT 2008 AND VI 29 AND IP 3

Results: 18

Activating NOTCH3 mutation in a patient with small-vessel-disease of the Brain.

Published in:

Human Mutation, 2008, v. 29, n. 3, p. 452, doi. 10.1002/humu.9527

By:

Fouillade, Charles;
Chabriat, Hugues;
Riant, Florence;
Mine, Manuèle;
Arnoud, Minh;
Magy, Laurent;
Bousser, Marie Germaine;
Tournier-Lasserve, Elisabeth;
Joutel, Anne

Publication type:

Article

Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease.

Published in:

Human Mutation, 2008, v. 29, n. 3, p. 409, doi. 10.1002/humu.20661

By:

Pecci, Alessandro;
Panza, Emanuele;
Pujol-Moix, Núria;
Klersy, Catherine;
Di Bari, Filomena;
Bozzi, Valeria;
Gresele, Paolo;
Lethagen, Stefan;
Fabris, Fabrizio;
Dufour, Carlo;
Granata, Antonio;
Doubek, Michael;
Pecoraro, Carmine;
Koivisto, Pasi A.;
Heller, Paula G.;
Iolascon, Achille;
Alvisi, Patrizia;
Schwabe, Dirk;
De Candia, Erica;
Rocca, Bianca

Publication type:

Article

Rapid identification of somatic mutations in colorectal and breast cancer tissues using mismatch repair detection (MRD).

Published in:

Human Mutation, 2008, v. 29, n. 3, p. 441, doi. 10.1002/humu.20672

By:

Bentivegna, Steven;
Zheng, Jianbiao;
Namsaraev, Eugeni;
Carlton, Victoria E.H.;
Pavlicek, Adam;
Moorhead, Martin;
Siddiqui, Farooq;
Wang, Zhiyong;
Lee, Liana;
Ireland, James S.;
Suyenaga, Kent;
Willis, Thomas D.;
Faham, Malek;
Seymour, Albert B.

Publication type:

Article

NPC-db, a Niemann-Pick type C disease gene variation database.

Published in:

2008

By:

Runz, Heiko;
Dolle, Dirk;
Schlitter, Anna Melissa;
Zschocke, Johannes

Publication type:

Other

CoagMDB: a database analysis of missense mutations within four conserved domains in five vitamin K-dependent coagulation serine proteases using a text-mining tool.

Published in:

2008

By:

Saunders, Rebecca E.;
Perkins, Stephen J.

Publication type:

Other

Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing.

Published in:

Human Mutation, 2008, v. 29, n. 3, p. 418, doi. 10.1002/humu.20669

By:

Otto, Edgar A.;
Helou, Juliana;
Allen, Susan J.;
O'Toole, John F.;
Wise, Eric L.;
Ashraf, Shazia;
Attanasio, Massimo;
Zhou, Weibin;
Wolf, Matthias T.F.;
Hildebrandt, Friedhelm

Publication type:

Article

Annotating single amino acid polymorphisms in the UniProt/Swiss-Prot knowledgebase.

Published in:

2008

By:

Yip, Yum L.;
Famiglietti, Maria;
Gos, Arnaud;
Duek, Paula D.;
David, Fabrice P.A.;
Gateau, Alain;
Bairoch, Amos

Publication type:

Other

Usher syndrome type 1 due to missense mutations on both CDH23 alleles: investigation of mRNA splicing.

Published in:

Human Mutation, 2008, v. 29, n. 3, p. 452, doi. 10.1002/humu.9526

By:

Becirovic, Elvir;
Ebermann, Inga;
Nagy, Ditta;
Zrenner, Eberhart;
Seeliger, Mathias Wolfgang;
Bolz, Hanno Jörn

Publication type:

Article

Somatic FGF9 mutations in colorectal and endometrial carcinomas associated with membranous β-catenin.

Published in:

Human Mutation, 2008, v. 29, n. 3, p. 390, doi. 10.1002/humu.20653

By:

Abdel-Rahman, Wael M.;
Kalinina, Juliya;
Shoman, Soheir;
Eissa, Saad;
Ollikainen, Miina;
Elomaa, Outi;
Eliseenkova, Anna V.;
Bützow, Ralf;
Mohammadi, Moosa;
Peltomäki, Päivi

Publication type:

Article

Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer.

Published in:

Human Mutation, 2008, v. 29, n. 3, p. 367, doi. 10.1002/humu.20635

By:

Barnetson, Rebecca A.;
Cartwright, Nicola;
van Vliet, Annelot;
Haq, Naila;
Drew, Kate;
Farrington, Susan;
Williams, Nicola;
Warner, Jon;
Campbell, Harry;
Porteous, Mary E.;
Dunlop, Malcolm G.

Publication type:

Article

Platelet receptor P2RY12 haplotypes predict restenosis after percutaneous coronary interventions.

Published in:

Human Mutation, 2008, v. 29, n. 3, p. 375, doi. 10.1002/humu.20641

By:

Rudež, Goran;
Pons, Douwe;
Leebeek, Frank;
Monraats, Pascalle;
Schrevel, Marlies;
Zwinderman, Aeilko;
de Winter, Robbert;
Tio, René;
Doevendans, Pieter;
Jukema, Wouter;
de Maat, Moniek

Publication type:

Article

A putative exonic splicing enhancer in exon 7 of the PDHA1 gene affects splicing of adjacent exons.

Published in:

Human Mutation, 2008, v. 29, n. 3, p. 451, doi. 10.1002/humu.9525

By:

Ridout, C.K.;
Keighley, P.;
Krywawych, S.;
Brown, R.M.;
Brown, G.K.

Publication type:

Article

The Human Intermediate Filament Database: comprehensive information on a gene family involved in many human diseases.

Published in:

2008

By:

Szeverenyi, Ildiko;
Cassidy, Andrew J.;
Chung, Cheuk Wang;
Lee, Bernett T.K.;
Common, John E.A.;
Ogg, Stephen C.;
Chen, Huijia;
Sim, Shu Yin;
Goh, Walter L.P.;
Ng, Kee Woei;
Simpson, John A.;
Chee, Li Lian;
Eng, Goi Hui;
Li, Bin;
Lunny, Declan P.;
Chuon, Danny;
Venkatesh, Aparna;
Khoo, Kian Hoe;
McLean, W.H. Irwin;
Lim, Yun Ping

Publication type:

Other

Polymorphisms of LIG4 and XRCC4 involved in the NHEJ pathway interact to modify risk of glioma.

Published in:

Human Mutation, 2008, v. 29, n. 3, p. 381, doi. 10.1002/humu.20645

By:

Liu, Yanhong;
Zhou, Keke;
Zhang, Haishi;
Shugart, Yin Yao;
Chen, Lina;
Xu, Zhonghui;
Zhong, Yu;
Liu, Hongliang;
Jin, Li;
Wei, Qingyi;
Huang, Fengping;
Lu, Daru;
Zhou, Liangfu

Publication type:

Article

Increased forensic efficiency of DNA fingerprints through simultaneous resolution of length and nucleotide variability by high-performance mass spectrometry.

Published in:

Human Mutation, 2008, v. 29, n. 3, p. 427, doi. 10.1002/humu.20627

By:

Oberacher, Herbert;
Pitterl, Florian;
Huber, Gabriela;
Niederstätter, Harald;
Steinlechner, Martin;
Parson, Walther

Publication type:

Article

Detailed analysis of 22q11.2 with a high density MLPA probe set.

Published in:

Human Mutation, 2008, v. 29, n. 3, p. 433, doi. 10.1002/humu.20640

By:

Jalali, G.R.;
Vorstman, J.A.S.;
Errami, Ab;
Vijzelaar, R.;
Biegel, J.;
Shaikh, T.;
Emanuel, B.S.

Publication type:

Article

Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.

Published in:

Human Mutation, 2008, v. 29, n. 3, p. 451, doi. 10.1002/humu.9524

By:

Dreyer, Bo;
Brox, Vigdis;
Tranebjærg, Lisbeth;
Rosenberg, Thomas;
Sadeghi, Andrè M.;
Möller, Claes;
Nilssen, Øivind

Publication type:

Article

Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array.

Published in:

Human Mutation, 2008, v. 29, n. 3, p. 398, doi. 10.1002/humu.20659

By:

de Ståhl, Teresita Díaz;
Sandgren, Johanna;
Piotrowski, Arkadiusz;
Nord, Helena;
Andersson, Robin;
Menzel, Uwe;
Bogdan, Adam;
Thuresson, Ann-Charlotte;
Poplawski, Andrzej;
von Tell, Desiree;
Hansson, Caisa M.;
Elshafie, Amir I.;
ElGhazali, Gehad;
Imreh, Stephan;
Nordenskjöld, Magnus;
Upadhyaya, Meena;
Komorowski, Jan;
Bruder, Carl E.G.;
Dumanski, Jan P.

Publication type:

Article