Works matching IS 10597794 AND DT 2008 AND VI 29 AND IP 6

Results: 20

Faster online publication and indexing of 'Mutation in Brief' articles via Early View.

Published in:: 2008
Publication type:: Other

A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency.

Published in:

Human Mutation, 2008, v. 29, n. 6, p. 861, doi. 10.1002/humu.20740

By:

Lopez-Granados, Eduardo;
Keenan, Jeffrey E.;
Kinney, Matthew C.;
Leo, Harvey;
Jain, Neal;
Ma, Chi A.;
Quinones, Ralph;
Gelfand, Erwin W.;
Jain, Ashish

Publication type:

Article

Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.

Published in:

Human Mutation, 2008, v. 29, n. 6, p. 809, doi. 10.1002/humu.20704

By:

Lampe, A.K.;
Zou, Y.;
Sudano, D.;
O'Brien, K.K.;
Hicks, D.;
Laval, S.H.;
Charlton, R.;
Jimenez-Mallebrera, C.;
Zhang, R.-Z.;
Finkel, R.S.;
Tennekoon, G.;
Schreiber, G.;
van der Knaap, M.S.;
Marks, H.;
Straub, V.;
Flanigan, K.M.;
Chu, M.-L.;
Muntoni, F.;
Bushby, K.M.D.;
Bönnemann, C.G.

Publication type:

Article

Reduced half-life of holocarboxylase synthetase from patients with severe Multiple Carboxylase Deficiency.

Published in:

Human Mutation, 2008, v. 29, n. 6, p. E47, doi. 10.1002/humu.20766

By:

Bailey, Lisa M.;
Ivanov, Ruby A.;
Jitrapakdee, Sarawut;
Wilson, Callum J.;
Wallace, John C.;
Polyak, Steven W.

Publication type:

Article

Lafora disease in the Indian population: EPM2A and NHLRC1 gene mutations and their impact on subcellular localization of laforin and malin.

Published in:

Human Mutation, 2008, v. 29, n. 6, p. E1, doi. 10.1002/humu.20737

By:

Singh, Shweta;
Satishchandra, Parthasarathy;
Shankar, Susarla Krishna;
Ganesh, Subramaniam

Publication type:

Article

A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene ( OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy.

Published in:

Human Mutation, 2008, v. 29, n. 6, p. 823, doi. 10.1002/humu.20708

By:

Rodríguez-Ballesteros, Montserrat;
Reynoso, Raúl;
Olarte, Margarita;
Villamar, Manuela;
Morera, Constantino;
Santarelli, Rosamaria;
Arslan, Edoardo;
Medá, Carme;
Curet, Carlos;
Völter, Christiane;
Sainz-Quevedo, Manuel;
Castorina, Pierangela;
Ambrosetti, Umberto;
Berrettini, Stefano;
Frei, Klemens;
Tedín, Socorro;
Smith, Janine;
Cruz Tapia, M.;
Cavallé, Laura;
Gelvez, Nancy

Publication type:

Article

Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I.

Published in:

Human Mutation, 2008, v. 29, n. 6, p. E37, doi. 10.1002/humu.20761

By:

Oshima, A.;
Jaijo, T.;
Aller, E.;
Millan, J.M.;
Carney, C.;
Usami, S.;
Moller, C.;
Kimberling, W.J.

Publication type:

Article

Cells expressing partially unfolded R789C/p.R989C type II procollagen mutant associated with spondyloepiphyseal dysplasia undergo apoptosis.

Published in:

Human Mutation, 2008, v. 29, n. 6, p. 841, doi. 10.1002/humu.20736

By:

Hintze, Vera;
Steplewski, Andrzej;
Ito, Hidetoshi;
Jensen, Deborah A.;
Rodeck, Ulrich;
Fertala, Andrzej

Publication type:

Article

Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele.

Published in:

Human Mutation, 2008, v. 29, n. 6, p. E58, doi. 10.1002/humu.20776

By:

Santamaria, Raül;
Michelakakis, Helen;
Moraitou, Marina;
Dimitriou, Evangelia;
Dominissini, Silvia;
Grossi, Serena;
Sánchez-Ollé, Gessamí;
Chabás, Amparo;
Pittis, María Gabriela;
Filocamo, Mirella;
Vilageliu, Lluïsa;
Grinberg, Daniel

Publication type:

Article

Transcriptional expression of cis-acting and trans-acting splicing mutations cause autosomal dominant retinitis pigmentosa.

Published in:

Human Mutation, 2008, v. 29, n. 6, p. 869, doi. 10.1002/humu.20747

By:

Gamundi, María José;
Hernan, Imma;
Muntanyola, Marta;
Maseras, Miquel;
López-Romero, Pedro;
Álvarez, Rebeca;
Dopazo, Ana;
Borrego, Salud;
Carballo, Miguel

Publication type:

Article

Genetic polymorphisms for the study of multifactorial stroke.

Published in:

Human Mutation, 2008, v. 29, n. 6, p. 776, doi. 10.1002/humu.20666

By:

Bersano, A.;
Ballabio, E.;
Bresolin, N.;
Candelise, L.

Publication type:

Article

The infevers autoinflammatory mutation online registry: update with new genes and functions.

Published in:

2008

By:

Milhavet, Florian;
Cuisset, Laurence;
Hoffman, Hal M.;
Slim, Rima;
El-Shanti, Hatem;
Aksentijevich, Ivona;
Lesage, Suzanne;
Waterham, Hans;
Wise, Carol;
Sarrauste de Menthiere, Cyril;
Touitou, Isabelle

Publication type:

Other

Genetic variability in the mitochondrial serine protease HTRA2 contributes to risk for Parkinson disease.

Published in:

Human Mutation, 2008, v. 29, n. 6, p. 832, doi. 10.1002/humu.20713

By:

Bogaerts, Veerle;
Nuytemans, Karen;
Reumers, Joke;
Pals, Philippe;
Engelborghs, Sebastiaan;
Pickut, Barbara;
Corsmit, Ellen;
Peeters, Karin;
Schymkowitz, Joost;
De Deyn, Peter Paul;
Cras, Patrick;
Rousseau, Frederic;
Theuns, Jessie;
Van Broeckhoven, Christine

Publication type:

Article

Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease.

Published in:

Human Mutation, 2008, v. 29, n. 6, p. E27, doi. 10.1002/humu.20753

By:

Pittis, MG;
Donnarumma, M;
Montalvo, ALE;
Dominissini, S;
Kroos, M;
Rosano, C;
Stroppiano, M;
Bianco, MG;
Donati, MA;
Parenti, G;
D'Amico, A;
Ciana, G;
Di Rocco, M;
Reuser, A;
Bembi, B;
Filocamo, M

Publication type:

Article

Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).

Published in:

Human Mutation, 2008, v. 29, n. 6, p. 852, doi. 10.1002/humu.20735

By:

Chao, Elizabeth C.;
Velasquez, Jonathan L.;
Witherspoon, Mavee S.L.;
Rozek, Laura S.;
Peel, David;
Ng, Pauline;
Gruber, Stephen B.;
Watson, Patrice;
Rennert, Gad;
Anton-Culver, Hoda;
Lynch, Henry;
Lipkin, Steven M.

Publication type:

Article

Mutations, structural variations, and genome-wide resequencing: where to from here in our understanding of disease and evolution?

Published in:

Human Mutation, 2008, v. 29, n. 6, p. 886, doi. 10.1002/humu.20781

By:

Tabone, Tania

Publication type:

Article

Mutations in the chromatin-associated protein ATRX.

Published in:

2008

By:

Gibbons, Richard J.;
Wada, Takahito;
Fisher, Christopher A.;
Malik, Nicola;
Mitson, Matthew J.;
Steensma, David P.;
Fryer, Alan;
Goudie, David R.;
Krantz, Ian D.;
Traeger-Synodinos, Joanne

Publication type:

Other

Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.

Published in:

Human Mutation, 2008, v. 29, n. 6, p. E13, doi. 10.1002/humu.20745

By:

Kroos, Marian;
Pomponio, Robert J.;
van Vliet, Laura;
Palmer, Rachel E.;
Phipps, Michael;
Van der Helm, Robert;
Halley, Dicky;
Reuser, Arnold

Publication type:

Article

Bottlenecks in molecular testing for rare genetic diseases.

Published in:

Human Mutation, 2008, v. 29, n. 6, p. 772, doi. 10.1002/humu.20756

By:

Willems, Patrick J.

Publication type:

Article

A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy.

Published in:

Human Mutation, 2008, v. 29, n. 6, p. 879, doi. 10.1002/humu.20749

By:

Fokstuen, Siv;
Lyle, Robert;
Munoz, Analia;
Gehrig, Corinne;
Lerch, René;
Perrot, Andreas;
Osterziel, Karl Josef;
Geier, Christian;
Beghetti, Maurice;
Mach, François;
Sztajzel, Juan;
Sigwart, Ulrich;
Antonarakis, Stylianos E.;
Blouin, Jean-Louis

Publication type:

Article