Works matching IS 10597794 AND DT 2011 AND VI 32 AND IP 7

Results: 20

U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation.

Published in:

Human Mutation, 2011, v. 32, n. 7, p. 815, doi. 10.1002/humu.21509

By:

Schmid, Fabian;
Glaus, Esther;
Barthelmes, Daniel;
Fliegauf, Manfred;
Gaspar, Harald;
Nürnberg, Gudrun;
Nürnberg, Peter;
Omran, Heymut;
Berger, Wolfgang;
Neidhardt, John

Publication type:

Article

Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency.

Published in:

Human Mutation, 2011, v. 32, n. 7, p. 843, doi. 10.1002/humu.21516

By:

Higaki, Katsumi;
Li, Linjing;
Bahrudin, Udin;
Okuzawa, Soichiro;
Takamuram, Ayumi;
Yamamoto, Koichi;
Adachi1, Kaori;
Paraguison, Rubigilda C.;
Takai, Tomoko;
Ikehata, Hiroki;
Tominaga, Lika;
Hisatome, Ichiro;
Iida, Masami;
Ogawa, Seiichiro;
Matsuda, Junichiro;
Ninomiya, Haruaki;
Sakakibara, Yasubumi;
Ohno, Kousaku;
Suzuki, Yoshiyuki;
Nanba, Eiji

Publication type:

Article

A mild neurofibromatosis type 1 phenotype produced by the combination of the benign nature of a leaky NF1-splice mutation and the presence of a complex mosaicism.

Published in:

Human Mutation, 2011, v. 32, n. 7, p. 705, doi. 10.1002/humu.21500

By:

Fernández-Rodríguez, Juana;
Castellsagué, Joan;
Benito, Llúcia;
Benavente, Yolanda;
Capellá, Gabriel;
Blanco, Ignacio;
Serra, Eduard;
Lázaro, Conxi

Publication type:

Article

Identification of Novel Exon and Transcript of EHMTI Improves Kleefstra Syndrome Diagnosis and Highlights Limitations of Our Current Knowledge of the Human Genome.

Published in:

Human Mutation, 2011, v. 32, n. 7, p. v, doi. 10.1002/humu.21549

By:

Spinner, Nancy B.

Publication type:

Article

A worldwide analysis of beta-defensin copy number variation suggests recent selection of a high-expressing DEFB103 gene copy in East Asia.

Published in:

Human Mutation, 2011, v. 32, n. 7, p. 743, doi. 10.1002/humu.21491

By:

Hardwick, Robert J.;
Machado, Lee R.;
Zuccherato, Luciana W.;
Antolinos, Suzanne;
Xue, Yali;
Shawa, Nyambura;
Gilman, Robert H.;
Cabrera, Lilia;
Berg, Douglas E.;
Tyler-Smith, Chris;
Kelly, Paul;
Tarazona-Santos, Eduardo;
Hollox, Edward J.

Publication type:

Article

Persistence of intracellular and extracellular changes after incompletely suppressing expression of the R789C (p.R989C) and R992C (p.R1192C) collagen II mutants.

Published in:

Human Mutation, 2011, v. 32, n. 7, p. 794, doi. 10.1002/humu.21506

By:

Jensen, Deborah A.;
Steplewski, Andrzej;
Gawron, Katarzyna;
Fertala, Andrzej

Publication type:

Article

A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP).

Published in:

Human Mutation, 2011, v. 32, n. 7, p. 751, doi. 10.1002/humu.21494

By:

Pons, Véronique;
Rolland, Corinne;
Nauze, Michel;
Danjoux, Marie;
Gaibelet, Gérald;
Durandy, Anne;
Sassolas, Agnès;
Lévy, Emile;
Tercé, François;
Collet, Xavier;
Mas, Emmanuel

Publication type:

Article

Update on SLC26A3 mutations in congenital chloride diarrhea.

Published in:

Human Mutation, 2011, v. 32, n. 7, p. 715, doi. 10.1002/humu.21498

By:

Wedenoja, Satu;
Pekansaari, Elina;
Höglund, Pia;
Mäkelä, Siru;
Holmberg, Christer;
Kere, Juha

Publication type:

Article

A mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotonia.

Published in:

Human Mutation, 2011, v. 32, n. 7, p. 773, doi. 10.1002/humu.21501

By:

Kubota, Tomoya;
Roca, Xavier;
Kimura, Takashi;
Kokunai, Yosuke;
Nishino, Ichizo;
Sakoda, Saburo;
Krainer, Adrian R.;
Takahashi, Masanori P.

Publication type:

Article

DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.

Published in:

Human Mutation, 2011, v. 32, n. 7, p. 825, doi. 10.1002/humu.21512

By:

Hildebrand, Michael S.;
Morín, Matías;
Meyer, Nicole C.;
Mayo, Fernando;
Modamio-Hoybjor, Silvia;
Mencía, Angeles;
Olavarrieta, Leticia;
Morales-Angulo, Carmelo;
Nishimura, Carla J.;
Workman, Heather;
DeLuca, Adam P.;
del Castillo, Ignacio;
Taylor, Kyle R.;
Tompkins, Bruce;
Goodman, Corey W.;
Schrauwen, Isabelle;
Wesemael, Maarten Van;
Lachlan, K.;
Shearer, A. Eliot;
Braun, Terry A.

Publication type:

Article

Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome.

Published in:

Human Mutation, 2011, v. 32, n. 7, p. 853, doi. 10.1002/humu.21523

By:

Nillesen, Willy M.;
Yntema, Helger G.;
Moscarda, Marco;
Verbeek, Nienke E.;
Wilson, Louise C.;
Cowan, Frances;
Schepens, Marga;
Raas-Rothschild, Annick;
Gafni-Weinstein, Orly;
Zollino, Marcella;
Vijzelaar, Raymon;
Neri, Giovanni;
Nelen, Marcel;
Bokhoven, Hans van;
Giltay, Jacques;
Kleefstra, Tjitske

Publication type:

Article

Mutation update for the PORCN gene.

Published in:

Human Mutation, 2011, v. 32, n. 7, p. 723, doi. 10.1002/humu.21505

By:

Lombardi, Maria Paola;
Bulk, Saskia;
Celli, Jacopo;
Lampe, Anne;
Gabbett, Michael T.;
Ousager, Lillian Bomme;
van der Smagt, Jasper J.;
Soller, Maria;
Stattin, Eva-Lena;
Mannens, Marcel A.M.M.;
Smigiel, Robert;
Hennekam, Raoul C.

Publication type:

Article

SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.

Published in:

Human Mutation, 2011, v. 32, n. 7, p. 760, doi. 10.1002/humu.21492

By:

Lepri, Francesca;
De Luca, Alessandro;
Stella, Lorenzo;
Rossi, Cesare;
Baldassarre, Giuseppina;
Pantaleoni, Francesca;
Cordeddu, Viviana;
Williams, Bradley J.;
Dentici, Maria L.;
Caputo, Viviana;
Venanzi, Serenella;
Bonaguro, Michela;
Kavamura, Ines;
Faienza, Maria F.;
Pilotta, Alba;
Stanzial, Franco;
Faravelli, Francesca;
Gabrielli, Orazio;
Marino, Bruno;
Neri, Giovanni

Publication type:

Article

Breakage-Fusion-Bridge Cycles Causing Chromosome Instability in Human Cleavage Stage Embryos.

Published in:

Human Mutation, 2011, v. 32, n. 7, p. v, doi. 10.1002/humu.21548

By:

Patsalis, Philippos C.

Publication type:

Article

Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex.

Published in:

Human Mutation, 2011, v. 32, n. 7, p. 710, doi. 10.1002/humu.21503

By:

Zhou, Cheng;
Zang, Dongjie;
Jin, Yan;
Wu, Huafeng;
Liu, Zhengyi;
Du, Juan;
Zhang, Jianzhong

Publication type:

Article

Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients.

Published in:

Human Mutation, 2011, v. 32, n. 7, p. 835, doi. 10.1002/humu.21514

By:

Cozar, Mónica;
Urreizti, Roser;
Vilarinho, Laura;
Grosso, Carola;
Dodelson de Kremer, Raquel;
Asteggiano, Carla G.;
Dalmau, Jaime;
García, Ana María;
Vilaseca, María Antonia;
Grinberg, Daniel;
Balcells, Susana

Publication type:

Article

WAVe: web analysis of the variome.

Published in:

Human Mutation, 2011, v. 32, n. 7, p. 729, doi. 10.1002/humu.21499

By:

Lopes, Pedro;
Dalgleish, Raymond;
Oliveira, José Luís

Publication type:

Article

Novel polymorphic AluYb8 insertion in the WNK1 gene is associated with blood pressure variation in Europeans.

Published in:

Human Mutation, 2011, v. 32, n. 7, p. 806, doi. 10.1002/humu.21508

By:

Putku, Margus;
Kepp, Katrin;
Org, Elin;
Sõber, Siim;
Comas, David;
Viigimaa, Margus;
Veldre, Gudrun;
Juhanson, Peeter;
Hallast, Pille;
Tõnisson, Neeme;
Shaw-Hawkins, Sue;
Caulfield, Mark J.;
Khusnutdinova, Elza;
Kožich, Viktor;
Munroe, Patricia B.;
Laan, Maris

Publication type:

Article

Breakage-fusion-bridge cycles leading to inv dup del occur in human cleavage stage embryos.

Published in:

Human Mutation, 2011, v. 32, n. 7, p. 783, doi. 10.1002/humu.21502

By:

Voet, Thierry;
Vanneste, Evelyne;
Van der Aa, Niels;
Melotte, Cindy;
Jackmaert, Sigrun;
Vandendael, Tamara;
Declercq, Matthias;
Debrock, Sophie;
Fryns, Jean-Pierre;
Moreau, Yves;
D'Hooghe, Thomas;
Vermeesch, Joris R.

Publication type:

Article

Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants.

Published in:

Human Mutation, 2011, v. 32, n. 7, p. 735, doi. 10.1002/humu.21513

By:

Mucaki, Eliseos J.;
Ainsworth, Peter;
Rogan, Peter K.

Publication type:

Article