Works matching IS 10597794 AND DT 2010 AND VI 31 AND IP 4

Results: 22

The ubiquitin ligase CHIP/STUB1 targets mutant keratins for degradation.

Published in:

Human Mutation, 2010, v. 31, n. 4, p. 466, doi. 10.1002/humu.21222

By:

Löffek, Stefanie;
Wöll, Stefan;
Höhfeld, Jörg;
Leube, Rudolf E.;
Has, Cristina;
Bruckner-Tuderman, Leena;
Magin, Thomas M.

Publication type:

Article

Disruption of OTC promoter-enhancer interaction in a patient with symptoms of ornithine carbamoyltransferase deficiency.

Published in:

Human Mutation, 2010, v. 31, n. 4, p. E1294, doi. 10.1002/humu.21215

By:

Luksan, Ondrej;
Jirsa, Milan;
Eberova, Jitka;
Minks, Jakub;
Treslova, Helena;
Bouckova, Michaela;
Storkanova, Gabriela;
Vlaskova, Hana;
Hrebicek, Martin;
Dvorakova, Lenka

Publication type:

Article

Quantifying the effect of sequence variation on regulatory interactions.

Published in:

Human Mutation, 2010, v. 31, n. 4, p. 477, doi. 10.1002/humu.21209

By:

Manke, Thomas;
Heinig, Matthias;
Vingron, Martin

Publication type:

Article

An expectation-maximization program for determining allelic spectrum from CNV data (CoNVEM): insights into population allelic architecture and its mutational history.

Published in:

2010

By:

Gaunt, Tom R.;
Rodriguez, Santiago;
Guthrie, Philip A.I.;
Day, Ian N.M.

Publication type:

Other

Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency.

Published in:

Human Mutation, 2010, v. 31, n. 4, p. 445, doi. 10.1002/humu.21212

By:

Zikanova, Marie;
Skopova, Vaclava;
Hnizda, Ales;
Krijt, Jakub;
Kmoch, Stanislav

Publication type:

Article

High-throughput genotyping of mannose-binding lectin variants using high-resolution DNA-melting analysis.

Published in:

Human Mutation, 2010, v. 31, n. 4, p. E1286, doi. 10.1002/humu.21213

By:

Vossen, Rolf H.A.M.;
van Duijn, Martine;
Daha, Mohamed R.;
den Dunnen, Johan T.;
Roos, Anja

Publication type:

Article

The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria.

Published in:

Human Mutation, 2010, v. 31, n. 4, p. 437, doi. 10.1002/humu.21206

By:

Homolova, Katerina;
Zavadakova, Petra;
Doktor, Thomas Koed;
Schroeder, Lisbeth Dahl;
Kozich, Viktor;
Andresen, Brage S.

Publication type:

Article

Reversal of pathogenic mutations in Hunter syndrome by an RNA-editing-like mechanism?

Published in:

Human Mutation, 2010, v. 31, n. 4, p. V, doi. 10.1002/humu.21246

By:

Vilageliu, Lluÿsa

Publication type:

Article

Review and update of mutations causing Waardenburg syndrome.

Published in:

2010

By:

Pingault, Véronique;
Ente, Dorothée;
Dastot-Le Moal, Florence;
Goossens, Michel;
Marlin, Sandrine;
Bondurand, Nadège

Publication type:

Other

Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35).

Published in:

Human Mutation, 2010, v. 31, n. 4, p. E1251, doi. 10.1002/humu.21205

By:

Dick, Katherine J.;
Eckhardt, Matthias;
Paisán-Ruiz, Coro;
Alshehhi, Aisha Alkhayat;
Proukakis, Christos;
Sibtain, Naomi A.;
Maier, Helena;
Sharifi, Reza;
Patton, Michael A.;
Bashir, Wafa;
Koul, Roshan;
Raeburn, Sandy;
Gieselmann, Volkmar;
Houlden, Henry;
Crosby, Andrew H.

Publication type:

Article

Genetic diagnosis of familial breast cancer using clonal sequencing.

Published in:

Human Mutation, 2010, v. 31, n. 4, p. 484, doi. 10.1002/humu.21216

By:

Morgan, Joanne E.;
Carr, Ian M.;
Sheridan, Eamonn;
Chu, Carol E.;
Hayward, Bruce;
Camm, Nick;
Lindsay, Helen A.;
Mattocks, Chris J.;
Markham, Alexander F.;
Bonthron, David T.;
Taylor, Graham R.

Publication type:

Article

Compound heterozygosity for a novel hemizygous missense mutation and a partial deletion affecting the catalytic core of the H<sub>2</sub>O<sub>2</sub>-generating enzyme DUOX2 associated with transient congenital hypothyroidism.

Published in:

Human Mutation, 2010, v. 31, n. 4, p. E1304, doi. 10.1002/humu.21227

By:

Hoste, Candice;
Rigutto, Sabrina;
Van Vliet, Guy;
Miot, Françoise;
De Deken, Xavier

Publication type:

Article

Bardet-Biedl syndrome in Denmark-report of 13 novel sequence variations in six genes.

Published in:

Human Mutation, 2010, v. 31, n. 4, p. 429, doi. 10.1002/humu.21204

By:

Hjortshøj, Tina Duelund;
Grønskov, Karen;
Philp, Alisdair R.;
Nishimura, Darryl Y.;
Riise, Ruth;
Sheffield, Val C.;
Rosenberg, Thomas;
Brøndum-Nielsen, Karen

Publication type:

Article

An overview of L-2-hydroxyglutarate dehydrogenase gene ( L2HGDH) variants: a genotype-phenotype study.

Published in:

2010

By:

Steenweg, Marjan E.;
Jakobs, Cornelis;
Errami, Abdellatif;
van Dooren, Silvy J.M.;
Adeva Bartolomé, Maria T.;
Aerssens, Peter;
Augoustides-Savvapoulou, Persephone;
Baric, Ivo;
Baumann, Matthias;
Bonafé, Luisa;
Chabrol, Brigitte;
Clarke, Joe T.R.;
Clayton, Peter;
Coker, Mahmut;
Cooper, Sarah;
Falik-Zaccai, Tzipora;
Gorman, Mark;
Hahn, Andreas;
Hasanoglu, Alev;
King, Mary D.

Publication type:

Other

Massively parallel sequencing of ataxia genes after array-based enrichment.

Published in:

Human Mutation, 2010, v. 31, n. 4, p. 494, doi. 10.1002/humu.21221

By:

Hoischen, Alexander;
Gilissen, Christian;
Arts, Peer;
Wieskamp, Nienke;
van der Vliet, Walter;
Vermeer, Sascha;
Steehouwer, Marloes;
de Vries, Petra;
Meijer, Rowdy;
Seiqueros, Jorge;
Knoers, Nine V.A.M.;
Buckley, Michael F.;
Scheffer, Hans;
Veltman, Joris A.

Publication type:

Article

Impact of next generation sequencing: The 2009 Human Genome Variation Society Scientific Meeting.

Published in:

Human Mutation, 2010, v. 31, n. 4, p. 500, doi. 10.1002/humu.21210

By:

Oetting, William S.

Publication type:

Article

ΔN133p53 expression levels in relation to haplotypes of the TP53 internal promoter region.

Published in:

Human Mutation, 2010, v. 31, n. 4, p. 456, doi. 10.1002/humu.21214

By:

Bellini, Ilaria;
Pitto, Letizia;
Marini, Maria G.;
Porcu, Loredana;
Moi, Paolo;
Garritano, Sonia;
Boldrini, Laura;
Rainaldi, Giuseppe;
Fontanini, Gabriella;
Chiarugi, Massimo;
Barale, Roberto;
Gemignani, Federica;
Landi, Stefano

Publication type:

Article

Enigmatic In Vivo iduronate-2-sulfatase ( IDS) mutant transcript correction to wild-type in Hunter syndrome.

Published in:

Human Mutation, 2010, v. 31, n. 4, p. E1261, doi. 10.1002/humu.21208

By:

Lualdi, Susanna;
Tappino, Barbara;
Di Duca, Marco;
Dardis, Andrea;
Anderson, Christopher J.;
Biassoni, Roberto;
Thompson, Peter W.;
Corsolini, Fabio;
Di Rocco, Maja;
Bembi, Bruno;
Regis, Stefano;
Cooper, David N.;
Filocamo, Mirella

Publication type:

Article

Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci.

Published in:

Human Mutation, 2010, v. 31, n. 4, p. 421, doi. 10.1002/humu.21196

By:

Quemener, Sylvia;
Chen, Jian-Min;
Chuzhanova, Nadia;
Bénech, Caroline;
Casals, Teresa;
Macek, Milan;
Bienvenu, Thierry;
McDevitt, Trudi;
Farrell, Philip M.;
Loumi, Ourida;
Messaoud, Taieb;
Cuppens, Harry;
Cutting, Garry R.;
Stenson, Peter D.;
Giteau, Karine;
Audrézet, Marie-Pierre;
Cooper, David N.;
Férec, Claude

Publication type:

Article

Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A ( PRKAR1A): an update.

Published in:

2010

By:

Horvath, Anélia;
Bertherat, Jérôme;
Groussin, Lionel;
Guillaud-Bataille, Marine;
Tsang, Kitman;
Cazabat, Laure;
Libé, Rosella;
Remmers, Elaine;
René-Corail, Fernande;
Faucz, Fabio Rueda;
Clauser, Eric;
Calender, Alain;
Bertagna, Xavier;
Carney, J. Aidan;
Stratakis, Constantine A.

Publication type:

Other

The Roche Cancer Genome Database (RCGDB).

Published in:

2010

By:

Küntzer, Jan;
Eggle, Daniela;
Lenhof, Hans-Peter;
Burtscher, Helmut;
Klostermann, Stefan

Publication type:

Other

Deeper understanding of unclassified intronic variants and ESEs.

Published in:

Human Mutation, 2010, v. 31, n. 4, p. V, doi. 10.1002/humu.21247

By:

Rogan, Peter K.

Publication type:

Article