Works matching IS 10597794 AND DT 2005 AND VI 25 AND IP 6

Results: 15

Two ATM variants and breast cancer risk.

Published in:

Human Mutation, 2005, v. 25, n. 6, p. 594, doi. 10.1002/humu.9344

By:

Thompson, Deborah;
Antoniou, Antonis C.;
Jenkins, Mark;
Marsh, Anna;
Chen, Xiaoqing;
Wayne, Tierney;
Tesoriero, Andrea;
Milne, Roger;
Spurdle, Amanda;
Thorstenson, Yvonne;
Southey, Melissa;
Giles, Graham G.;
Investigators, kConFab;
Khanna, Kum Kum;
Sambrook, Joseph;
Oefner, Peter;
Goldgar, David;
Hopper, John L.;
Easton, Doug;
Chenevix-Trench, Georgia

Publication type:

Article

Application of genomewide SNP arrays for detection of simulated susceptibility loci.

Published in:

Human Mutation, 2005, v. 25, n. 6, p. 557, doi. 10.1002/humu.20174

By:

Kulle, Bettina;
Schirmer, Markus;
Toliat, Mohammad R.;
Suk, Anita;
Becker, Christian;
Tzvetkov, Mladen Vassilev;
Brockmöller, Jürgen;
Bickeböller, Heike;
Hasenfuss, Gerd;
Nürnberg, Peter;
Wojnowski, Leszek

Publication type:

Article

Subtelomeric rearrangements in the mentally retarded: A comparison of detection methods.

Published in:

Human Mutation, 2005, v. 25, n. 6, p. 513, doi. 10.1002/humu.20185

By:

Rooms, Liesbeth;
Reyniers, Edwin;
Kooy, R. Frank

Publication type:

Article

SCN1A mutations and epilepsy.

Published in:

Human Mutation, 2005, v. 25, n. 6, p. 535, doi. 10.1002/humu.20178

By:

Mulley, John C.;
Scheffer, Ingrid E.;
Petrou, Steven;
Dibbens, Leanne M.;
Berkovic, Samuel F.;
Harkin, Louise A.

Publication type:

Article

The spectrum of aldolase B ( ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe.

Published in:

Human Mutation, 2005, v. 25, n. 6, p. 594, doi. 10.1002/humu.9343

By:

Santer, René;
Rischewski, Johannes;
von Weihe, Michaela;
Niederhaus, Marko;
Schneppenheim, Sonja;
Baerlocher, Kurt;
Kohlschütter, Alfried;
Muntau, Ania;
Posselt, Hans-Georg;
Steinmann, Beat;
Schneppenheim, Reinhard

Publication type:

Article

Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene.

Published in:

Human Mutation, 2005, v. 25, n. 6, p. 566, doi. 10.1002/humu.20184

By:

Nichols, Kim E.;
Houseknecht, Monisa D.;
Godmilow, Lynn;
Bunin, Greta;
Shields, Carol;
Meadows, Anna;
Ganguly, Arupa

Publication type:

Article

Surveyor™ Nuclease: A new strategy for a rapid identification of heteroplasmic mitochondrial DNA mutations in patients with respiratory chain defects.

Published in:

Human Mutation, 2005, v. 25, n. 6, p. 575, doi. 10.1002/humu.20177

By:

Bannwarth, Sylvie;
Procaccio, Vincent;
Paquis-Flucklinger, Veronique

Publication type:

Article

Novel and recurrent mutations in the C-terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia - multiple epiphyseal dysplasia disease group.

Published in:

Human Mutation, 2005, v. 25, n. 6, p. 593, doi. 10.1002/humu.9342

By:

Kennedy, Jason;
Jackson, Gail C.;
Barker, Faye S.;
Nundlall, Seema;
Bella, Jordi;
Wright, Michael J.;
Mortier, Geert R.;
Neas, Katherine;
Thompson, Elizabeth;
Elles, Rob;
Briggs, Michael D.

Publication type:

Article

Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro.

Published in:

Human Mutation, 2005, v. 25, n. 6, p. 543, doi. 10.1002/humu.20172

By:

Wattenhofer, Marie;
Reymond, Alexandre;
Falciola, Véronique;
Charollais, Anne;
Caille, Dorothée;
Borel, Christelle;
Lyle, Robert;
Estivill, Xavier;
Petersen, Michael B.;
Meda, Paolo;
Antonarakis, Stylianos E.

Publication type:

Article

Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.

Published in:

Human Mutation, 2005, v. 25, n. 6, p. 525, doi. 10.1002/humu.20183

By:

Bateman, John F.;
Wilson, Richard;
Freddi, Susanna;
Lamandé, Shireen R.;
Savarirayan, Ravi

Publication type:

Article

Functional analysis of natural mutations in two TWIST protein motifs.

Published in:

Human Mutation, 2005, v. 25, n. 6, p. 550, doi. 10.1002/humu.20176

By:

Funato, Noriko;
Twigg, Stephen R.F.;
Higashihori, Norihisa;
Ohyama, Kimie;
Wall, Steven A.;
Wilkie, Andrew O.M.;
Nakamura, Masataka

Publication type:

Article

ATM mutations, haplotype analysis, and immunological status of Russian patients with ataxia telangiectasia.

Published in:

Human Mutation, 2005, v. 25, n. 6, p. 593, doi. 10.1002/humu.9341

By:

Birrell, Geoff W.;
Kneebone, Katherine;
Nefedov, Michael;
Nefedova, Elena;
Jartsev, M.N.;
Mitsui, Midori;
Gatti, Richard A.;
Lavin, Martin F.

Publication type:

Article

High frequency of ENG and ALK1/ACVRL1 mutations in German HHT patients.

Published in:

Human Mutation, 2005, v. 25, n. 6, p. 595, doi. 10.1002/humu.9345

By:

Schulte, Claudia;
Geisthoff, Urban;
Lux, Andreas;
Kupka, Susan;
Zenner, Hans-Peter;
Blin, Nikolaus;
Pfister, Markus

Publication type:

Article

Diagnostic DHPLC Quality Assurance (DDQA): A collaborative approach to the generation of validated and standardized methods for DHPLC-based mutation screening in clinical genetics laboratories.

Published in:

Human Mutation, 2005, v. 25, n. 6, p. 583, doi. 10.1002/humu.20182

By:

Schollen, Els;
Dequeker, Elisabeth;
McQuaid, Shirley;
Vankeirsbilck, Bruno;
Michils, Geneviève;
Harvey, John;
van den Akker, Eric;
van Schooten, Ron;
Clark, Zandra;
Schrooten, Stephan;
Matthijs, Gert

Publication type:

Article

On ubiquitin ligases and cancer.

Published in:

Human Mutation, 2005, v. 25, n. 6, p. 507, doi. 10.1002/humu.20175

By:

Beckmann, Jacques S.;
Maurer, Fabienne;
Delorenzi, Mauro;
Falquet, Laurent

Publication type:

Article