Works matching IS 10597794 AND DT 2006 AND VI 27 AND IP 10

Results: 20

Comprehensive NF1 screening on cultured Schwann cells from neurofibromas.

Published in:

Human Mutation, 2006, v. 27, n. 10, p. 1030, doi. 10.1002/humu.20389

By:

Maertens, Ophélia;
Brems, Hilde;
Vandesompele, Jo;
De Raedt, Thomas;
Heyns, Ine;
Rosenbaum, Thorsten;
De Schepper, Sofie;
De Paepe, Anne;
Mortier, Geert;
Janssens, Sandra;
Speleman, Frank;
Legius, Eric;
Messiaen, Ludwine

Publication type:

Article

Mutations in RYR1 in malignant hyperthermia and central core disease.

Published in:

Human Mutation, 2006, v. 27, n. 10, p. 977, doi. 10.1002/humu.20356

By:

Robinson, Rachel;
Carpenter, Danielle;
Shaw, Marie-Anne;
Halsall, Jane;
Hopkins, Philip

Publication type:

Article

Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques.

Published in:

Human Mutation, 2006, v. 27, n. 10, p. 1063, doi. 10.1002/humu.9458

By:

Dumanchin, Cecile;
Tournier, Isabelle;
Martin, Cosette;
Didic, Mira;
Belliard, Serge;
Carlander, Bertrand;
Rouhart, François;
Duyckaerts, Charles;
Pellissier, Jean-François;
Latouche, Jean Baptiste;
Hannequin, Didier;
Frebourg, Thierry;
Tosi, Mario;
Campion, Dominique

Publication type:

Article

Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.

Published in:

Human Mutation, 2006, v. 27, n. 10, p. 999, doi. 10.1002/humu.20374

By:

Montalvo, A.L.E.;
Bembi, B.;
Donnarumma, M.;
Filocamo, M.;
Parenti, G.;
Rossi, M.;
Merlini, L.;
Buratti, E.;
De Filippi, P.;
Dardis, A.;
Stroppiano, M.;
Ciana, G.;
Pittis, M.G.

Publication type:

Article

Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies.

Published in:

Human Mutation, 2006, v. 27, n. 10, p. 1060, doi. 10.1002/humu.9451

By:

Santamaria, Raül;
Chabás, Amparo;
Coll, Maria Josep;
Miranda, Clara Sa;
Vilageliu, Lluïsa;
Grinberg, Daniel

Publication type:

Article

Identification of the microdeletion breakpoint in a GLRA1null allele of Turkish hyperekplexia patients.

Published in:

Human Mutation, 2006, v. 27, n. 10, p. 1061, doi. 10.1002/humu.9455

By:

Becker, Kristina;
Hohoff, Carsten;
Schmitt, Bernhard;
Christen, Hans-Jürgen;
Neubauer, Bernd A.;
Sandrieser, Torsten;
Becker, Cord-Michael

Publication type:

Article

The cystathionine beta-synthase variant c.844_845ins68 protects against CNS demyelination in X-linked adrenoleukodystrophy.

Published in:

Human Mutation, 2006, v. 27, n. 10, p. 1063, doi. 10.1002/humu.9459

By:

Linnebank, Michael;
Semmler, Alexander;
Kleijer, Wim J.;
van der Sterre, Marianne L.T.;
Gärtner, Jutta;
Fliessbach, Klaus;
Sokolowski, Piotr;
Köhler, Wolfgang;
Schlegel, Uwe;
Klockgether, Thomas;
Wanders, Ronald J.A.;
Schmidt, Stephan;
Wüllner, Ullrich;
Kemp, Stephan

Publication type:

Article

Genetic evidence for ubiquitin-specific proteases USP24 and USP40 as candidate genes for late-onset Parkinson disease.

Published in:

Human Mutation, 2006, v. 27, n. 10, p. 1017, doi. 10.1002/humu.20382

By:

Li, Yonghong;
Schrodi, Steven;
Rowland, Charles;
Tacey, Kristina;
Catanese, Joseph;
Grupe, Andrew

Publication type:

Article

Common variations in the IL4R gene affect splicing and influence natural expression of the soluble isoform.

Published in:

Human Mutation, 2006, v. 27, n. 10, p. 990, doi. 10.1002/humu.20364

By:

Bergin, Ann-Marie;
Balder, Barbro;
Kishore, Shivendra;
Swärd, Kajsa;
Hahn-Zoric, Mirjana;
Löwhagen, Olle;
Hanson, Lars Å.;
Padyukov, Leonid

Publication type:

Article

KCNQ4: a gene for age-related hearing impairment?

Published in:

Human Mutation, 2006, v. 27, n. 10, p. 1007, doi. 10.1002/humu.20375

By:

Van Eyken, E.;
Van Laer, L.;
Fransen, E.;
Topsakal, V.;
Lemkens, N.;
Laureys, W.;
Nelissen, N.;
Vandevelde, A.;
Wienker, T.;
Van De Heyning, P.;
Van Camp, G.

Publication type:

Article

Combined use of MLPA and nonfluorescent multiplex PCR analysis by high performance liquid chromatography for the detection of genomic rearrangements.

Published in:

Human Mutation, 2006, v. 27, n. 10, p. 1047, doi. 10.1002/humu.20386

By:

De Lellis, Laura;
Curia, Maria Cristina;
Catalano, Teresa;
De Toffol, Simona;
Bassi, Chiara;
Mareni, Cristina;
Bertario, Lucio;
Battista, Pasquale;
Mariani-Costantini, Renato;
Radice, Paolo;
Cama, Alessandro

Publication type:

Article

ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions.

Published in:

Human Mutation, 2006, v. 27, n. 10, p. 1061, doi. 10.1002/humu.9454

By:

Cavalieri, Simona;
Funaro, Ada;
Porcedda, Paola;
Turinetto, Valentina;
Migone, Nicola;
Gatti, Richard A.;
Brusco, Alfredo

Publication type:

Article

Low frequency of AXIN2 mutations and high frequency of MUTYH mutations in patients with multiple polyposis.

Published in:

Human Mutation, 2006, v. 27, n. 10, p. 1064, doi. 10.1002/humu.9460

By:

Lejeune, Sophie;
Guillemot, François;
Triboulet, Jean-Pierre;
Cattan, Stéphane;
Mouton, Christine;
Porchet, Nicole;
Manouvrier, Sylvie;
Buisine, Marie-Pierre

Publication type:

Article

Unique substitution of CHEK2 and TP53 mutations implicated in primary prostate tumors and cancer cell lines.

Published in:

Human Mutation, 2006, v. 27, n. 10, p. 1062, doi. 10.1002/humu.9457

By:

Zheng, Li;
Wang, Fengwei;
Qian, Chiping;
Neumann, Roxann M.;
Cheville, John C.;
Tindall, Donald J.;
Liu, Wanguo

Publication type:

Article

A two-tier approach to mutation detection in the COL4A5 gene for Alport syndrome.

Published in:

Human Mutation, 2006, v. 27, n. 10, p. 1061, doi. 10.1002/humu.9453

By:

King, Kathy;
Flinter, Frances A.;
Green, Peter M.

Publication type:

Article

Visualization of MAPT inversion on stretched chromosomes of tau-negative frontotemporal dementia patients.

Published in:

Human Mutation, 2006, v. 27, n. 10, p. 1057, doi. 10.1002/humu.20391

By:

Gijselinck, Ilse;
Bogaerts, Veerle;
Rademakers, Rosa;
van der Zee, Julie;
Van Broeckhoven, Christine;
Cruts, Marc

Publication type:

Article

The 185delAG mutation (c.68_69delAG) in the BRCA1 gene triggers translation reinitiation at a downstream AUG codon.

Published in:

Human Mutation, 2006, v. 27, n. 10, p. 1024, doi. 10.1002/humu.20384

By:

Buisson, Monique;
Anczuków, Olga;
Zetoune, Almoutassem B.;
Ware, Mark D.;
Mazoyer, Sylvie

Publication type:

Article

Somatic mutations of GUCY2F, EPHA3, and NTRK3 in human cancers.

Published in:

Human Mutation, 2006, v. 27, n. 10, p. 1060, doi. 10.1002/humu.9452

By:

Wood, Laura D.;
Calhoun, Eric S.;
Silliman, Natalie;
Ptak, Janine;
Szabo, Steve;
Powell, Steve M.;
Riggins, Gregory J.;
Wang, Tian-Li;
Yan, Hai;
Gazdar, Adi;
Kern, Scott E.;
Pennacchio, Len;
Kinzler, Kenneth W.;
Vogelstein, Bert;
Velculescu, Victor E.

Publication type:

Article

PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis (LWD) probands.

Published in:

Human Mutation, 2006, v. 27, n. 10, p. 1062, doi. 10.1002/humu.9456

By:

Benito-Sanz, Sara;
Gorbenko Del Blanco, Darya;
Aza-Carmona, Miriam;
Magano, Luis F.;
Lapunzina, Pablo;
Argente, Jesús;
Campos-Barros, Ángel;
Heath, Karen E.

Publication type:

Article

Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families.

Published in:

Human Mutation, 2006, v. 27, n. 10, p. 1041, doi. 10.1002/humu.20383

By:

Carr, Ian M.;
Flintoff, Kimberley J.;
Taylor, Graham R.;
Markham, Alexander F.;
Bonthron, David T.

Publication type:

Article