Works matching IS 10597794 AND DT 2009 AND VI 30 AND IP 8

Results: 19

Molecular profiling of the 'plexinome' in melanoma and pancreatic cancer.

Published in:

Human Mutation, 2009, v. 30, n. 8, p. 1167, doi. 10.1002/humu.21017

By:

Balakrishnan, Asha;
Penachioni, Junia Y.;
Lamba, Simona;
Bleeker, Fonnet E.;
Zanon, Carlo;
Rodolfo, Monica;
Vallacchi, Viviana;
Scarpa, Aldo;
Felicioni, Lara;
Buck, Matthias;
Marchetti, Antonio;
Comoglio, Paolo M.;
Bardelli, Alberto;
Tamagnone, Luca

Publication type:

Article

Gene conversion causing human inherited disease: Evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair.

Published in:

Human Mutation, 2009, v. 30, n. 8, p. 1189, doi. 10.1002/humu.21020

By:

Chuzhanova, Nadia;
Chen, Jian-Min;
Bacolla, Albino;
Patrinos, George P.;
Férec, Claude;
Wells, Robert D.;
Cooper, David N.

Publication type:

Article

GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid β-galactosidase.

Published in:

Human Mutation, 2009, v. 30, n. 8, p. 1214, doi. 10.1002/humu.21031

By:

Hofer, Doris;
Paul, Karl;
Fantur, Katrin;
Beck, Michael;
Bürger, Friederike;
Caillaud, Catherine;
Fumic, Ksenija;
Ledvinova, Jana;
Lugowska, Agnieszka;
Michelakakis, Helen;
Radeva, Briguita;
Ramaswami, Uma;
Plecko, Barbara;
Paschke, Eduard

Publication type:

Article

Searching genetic risk factors for schizophrenia and bipolar disorder: learn from the past and back to the future.

Published in:

Human Mutation, 2009, v. 30, n. 8, p. 1139, doi. 10.1002/humu.21042

By:

Alaerts, Maaike;
Del-Favero, Jurgen

Publication type:

Article

Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?

Published in:

Human Mutation, 2009, v. 30, n. 8, p. E813, doi. 10.1002/humu.21057

By:

Tallila, Jonna;
Salonen, Riitta;
Kohlschmidt, Nicolai;
Peltonen, Leena;
Kestilä, Marjo

Publication type:

Article

A gene-alteration profile of human lung cancer cell lines.

Published in:

Human Mutation, 2009, v. 30, n. 8, p. 1199, doi. 10.1002/humu.21028

By:

Blanco, Raquel;
Iwakawa, Reika;
Tang, Moying;
Kohno, Takashi;
Angulo, Barbara;
Pio, Ruben;
Montuenga, Luis M.;
Minna, John D.;
Yokota, Jun;
Sanchez-Cespedes, Montse

Publication type:

Article

Prediction of function changes associated with single-point protein mutations using support vector machines (SVMs).

Published in:

2009

By:

Gao, Shan;
Zhang, Ning;
Duan, Guang You;
Yang, Zhuo;
Ruan, Ji Shou;
Zhang, Tao

Publication type:

Other

APP and BACE1 miRNA genetic variability has no major role in risk for Alzheimer disease.

Published in:

Human Mutation, 2009, v. 30, n. 8, p. 1207, doi. 10.1002/humu.21027

By:

Bettens, Karolien;
Brouwers, Nathalie;
Engelborghs, Sebastiaan;
Van Miegroet, Helen;
De Deyn, Peter P.;
Theuns, Jessie;
Sleegers, Kristel;
Van Broeckhoven, Christine

Publication type:

Article

Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: An updated map of candidate loci.

Published in:

Human Mutation, 2009, v. 30, n. 8, p. 1175, doi. 10.1002/humu.21016

By:

Bendavid, Claude;
Rochard, Lucie;
Dubourg, Christèle;
Seguin, Jonathan;
Gicquel, Isabelle;
Pasquier, Laurent;
Vigneron, Jaqueline;
Laquerrière, Annie;
Marcorelles, Pascale;
Jeanne-Pasquier, Corinne;
Rouleau, Caroline;
Jaillard, Sylvie;
Mosser, Jean;
Odent, Sylvie;
David, Veronique

Publication type:

Article

Modeling ATM mutant proteins from missense changes confirms retained kinase activity.

Published in:

Human Mutation, 2009, v. 30, n. 8, p. 1222, doi. 10.1002/humu.21034

By:

Barone, Giancarlo;
Groom, Alix;
Reiman, Anne;
Srinivasan, Venkataramanan;
Byrd, Philip J.;
Taylor, A. Malcolm R.

Publication type:

Article

Functional annotations improve the predictive score of human disease-related mutations in proteins.

Published in:

2009

By:

Calabrese, Remo;
Capriotti, Emidio;
Fariselli, Piero;
Martelli, Pier Luigi;
Casadio, Rita

Publication type:

Other

Insights into the importance of miRNA-related polymorphisms to heart disease.

Published in:

2009

By:

Clop, Alex

Publication type:

Other

Predicting the pathogenicity of RPE65 mutations.

Published in:

Human Mutation, 2009, v. 30, n. 8, p. 1183, doi. 10.1002/humu.21033

By:

Philp, A.R.;
Jin, M.;
Li, S.;
Schindler, E.I.;
Iannaccone, A.;
Lam, B.L.;
Weleber, R.G.;
Fishman, G.A.;
Jacobson, S.G.;
Mullins, R.F.;
Travis, Gabriel H.;
Stone, Edwin M.

Publication type:

Article

High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome families.

Published in:

Human Mutation, 2009, v. 30, n. 8, p. E797, doi. 10.1002/humu.21056

By:

Chong, George;
Jarry, Jonathan;
Marcus, Victoria;
Thiffault, Isabelle;
Winocour, Sebastian;
Monczak, Yury;
Drouin, Régen;
Latreille, Jean;
Australie, Karlene;
Bapat, Bharati;
Gordon, Philip H.;
Giguère, Yves;
Gologan, Adrian;
Galiatsatos, Polymnia;
Jass, Jeremy R.;
Wong, Nora;
Zaor, Sonya;
Palma, Laura;
Kasprzak, Lidia;
Tischkowitz, Marc

Publication type:

Article

Molecular characterization of the new defective P<sub>brescia</sub> alpha1-antitrypsin allele.

Published in:

Human Mutation, 2009, v. 30, n. 8, p. E771, doi. 10.1002/humu.21043

By:

Medicina, Daniela;
Montani, Nadia;
Fra, Anna M.;
Tiberio, Laura;
Corda, Luciano;
Miranda, Elena;
Pezzini, Alessandro;
Bonetti, Fausta;
Ingrassia, Rosaria;
Scabini, Roberta;
Facchetti, Fabio;
Schiaffonati, Luisa

Publication type:

Article

LRRK2 gene variation and its contribution to Parkinson disease.

Published in:

2009

By:

Paisán-Ruiz, Coro

Publication type:

Other

Functional variant in microRNA-196a2 contributes to the susceptibility of congenital heart disease in a Chinese population.

Published in:

Human Mutation, 2009, v. 30, n. 8, p. 1231, doi. 10.1002/humu.21044

By:

Xu, Jing;
Hu, Zhibin;
Xu, ZhengFeng;
Gu, Haiyong;
Yi, Long;
Cao, Hailong;
Chen, Jiaping;
Tian, Tian;
Liang, Jie;
Lin, Ying;
Qiu, Wanshan;
Ma, Hongxia;
Shen, Hongbing;
Chen, Yijiang

Publication type:

Article

Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase.

Published in:

Human Mutation, 2009, v. 30, n. 8, p. E782, doi. 10.1002/humu.21055

By:

Kitiratschky, Veronique B.D.;
Behnen, Petra;
Kellner, Ulrich;
Heckenlively, John R;
Zrenner, Eberhart;
Jägle, Herbert;
Kohl, Susanne;
Wissinger, Bernd;
Koch, Karl-Wilhelm

Publication type:

Article

Dissecting initiation of gene conversion events.

Published in:

2009

By:

Laan, Maris

Publication type:

Other