Works matching IS 10597794 AND DT 2011 AND VI 32 AND IP 2

Results: 19

Allele-specific methylated multiplex real-time quantitative PCR (ASMM RTQ-PCR), a powerful method for diagnosing loss of imprinting of the 11p15 region in Russell Silver and Beckwith Wiedemann syndromes.

Published in:

Human Mutation, 2011, v. 32, n. 2, p. 249, doi. 10.1002/humu.21403

By:

Azzi, Salah;
Steunou, Virginie;
Rousseau, Alexandra;
Rossignol, Sylvie;
Thibaud, Nathalie;
Danton, Fabienne;
Le Jule, Marilyne;
Gicquel, Christine;
Le Bouc, Yves;
Netchine, Irène

Publication type:

Article

Understanding the Underlying Pathological Mechanism of Mutations Located in 3′ Splice Sites and Adjacent Exonic Regions.

Published in:

2011

By:

Pérez, Belén

Publication type:

Other

Meiotic recombination favors the spreading of deleterious mutations in human populations.

Published in:

Human Mutation, 2011, v. 32, n. 2, p. 198, doi. 10.1002/humu.21407

By:

Necşulea, Anamaria;
Popa, Alexandra;
Cooper, David N.;
Stenson, Peter D.;
Mouchiroud, Dominique;
Gautier, Christian;
Duret, Laurent

Publication type:

Article

Assessment of copy number variation using the Illumina Infinium 1M SNP-array: a comparison of methodological approaches in the Spanish Bladder Cancer/EPICURO study.

Published in:

Human Mutation, 2011, v. 32, n. 2, p. 240, doi. 10.1002/humu.21398

By:

Marenne, Gaëlle;
Rodríguez-Santiago, Benjamín;
Closas, Montserrat García;
Pérez-Jurado, Luis;
Rothman, Nathaniel;
Rico, Daniel;
Pita, Guillermo;
Pisano, David G.;
Kogevinas, Manolis;
Silverman, Debra T.;
Valencia, Alfonso;
Real, Francisco X.;
Chanock, Stephen J.;
Génin, Emmanuelle;
Malats, Núria

Publication type:

Article

Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone development.

Published in:

Human Mutation, 2011, v. 32, n. 2, p. 231, doi. 10.1002/humu.21413

By:

Denais, Celine;
Dent, Carolyn L.;
Southgate, Laura;
Hoyle, Jacqueline;
Dafou, Dimitra;
Trembath, Richard C.;
Machado, Rajiv D.

Publication type:

Article

Tiling resolution array-CGH shows that somatic mosaic deletion of the EXT gene is causative in EXT gene mutation negative multiple osteochondromas patients.

Published in:

Human Mutation, 2011, v. 32, n. 2, p. E2036, doi. 10.1002/humu.21423

By:

Szuhai, Károly;
Jennes, Ivy;
de Jong, Danielle;
Bovée, Judith V.M.G.;
Wiweger, Malgorzata;
Wuyts, Wim;
Hogendoorn, Pancras C.W.

Publication type:

Article

Structural and biochemical consequences of NF1 associated nontruncating mutations in the Sec14-PH module of neurofibromin.

Published in:

Human Mutation, 2011, v. 32, n. 2, p. 191, doi. 10.1002/humu.21405

By:

Welti, Stefan;
Kühn, Sonja;
D'Angelo, Igor;
Brügger, Britta;
Kaufmann, Dieter;
Scheffzek, Klaus

Publication type:

Article

Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1).

Published in:

Human Mutation, 2011, v. 32, n. 2, p. 213, doi. 10.1002/humu.21418

By:

Messiaen, Ludwine;
Vogt, Julia;
Bengesser, Kathrin;
Fu, Chuanhua;
Mikhail, Fady;
Serra, Eduard;
Garcia-Linares, Carles;
Cooper, David N.;
Lazaro, Conxi;
Kehrer-Sawatzki, Hildegard

Publication type:

Article

Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations.

Published in:

Human Mutation, 2011, v. 32, n. 2, p. 183, doi. 10.1002/humu.21402

By:

Krug, Pauline;
Morinière, Vincent;
Marlin, Sandrine;
Koubi, Valérie;
Gabriel, Heinz D.;
Colin, Estelle;
Bonneau, Dominique;
Salomon, Rémi;
Antignac, Corinne;
Heidet, Laurence

Publication type:

Article

Mapping structural landmarks, ligand binding sites, and missense mutations to the collagen IV heterotrimers predicts major functional domains, novel interactions, and variation in phenotypes in inherited diseases affecting basement membranes.

Published in:

Human Mutation, 2011, v. 32, n. 2, p. 127, doi. 10.1002/humu.21401

By:

Parkin, J. Des;
San Antonio, James D.;
Pedchenko, Vadim;
Hudson, Billy;
Jensen, Shane T.;
Savige, Judy

Publication type:

Article

MLL2 mutation spectrum in 45 patients with Kabuki syndrome.

Published in:

Human Mutation, 2011, v. 32, n. 2, p. E2018, doi. 10.1002/humu.21416

By:

Paulussen, Aimée D. C.;
Stegmann, Alexander P. A.;
Blok, Marinus J.;
Tserpelis, Demis;
Posma-Velter, Crool;
Detisch, Yvonne;
Smeets, Eric E. J. G. L.;
Wagemans, Annemieke;
Schrander, Jaap J. P.;
van den Boogaard, Marie-José H.;
van der Smagt, Jasper;
van Haeringen, Arie;
Stolte-Dijkstra, Irene;
Kerstjens-Frederikse, Wilhelmina S.;
Mancini, Grazia M.;
Wessels, Marja W.;
Hennekam, Raoul C. M.;
Vreeburg, Maaike;
Geraedts, Joep;
de Ravel, Thomy

Publication type:

Article

Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.

Published in:

Human Mutation, 2011, v. 32, n. 2, p. 152, doi. 10.1002/humu.21361

By:

Scharner, Juergen;
Brown, Charlotte A.;
Bower, Matthew;
Iannaccone, Susan T.;
Khatri, Ismail A.;
Escolar, Diana;
Gordon, Erynn;
Felice, Kevin;
Crowe, Carol A.;
Grosmann, Carla;
Meriggioli, Matthew N.;
Asamoah, Alexander;
Gordon, Ora;
Gnocchi, Viola F.;
Ellis, Juliet A.;
Mendell, Jerry R.;
Zammit, Peter S.

Publication type:

Article

Mutant SOD1 and mitochondrial damage alter expression and splicing of genes controlling neuritogenesis in models of neurodegeneration.

Published in:

Human Mutation, 2011, v. 32, n. 2, p. 168, doi. 10.1002/humu.21394

By:

Lenzken, Silvia C.;
Romeo, Valentina;
Zolezzi, Francesca;
Cordero, Francesca;
Lamorte, Giuseppe;
Bonanno, Davide;
Biancolini, Donatella;
Cozzolino, Mauro;
Pesaresi, Maria Grazia;
Maracchioni, Alessia;
Sanges, Remo;
Achsel, Tilmann;
Carrì, Maria Teresa;
Calogero, Raffaele A.;
Barabino, Silvia M.L.

Publication type:

Article

Novel genomic techniques open new avenues in the analysis of monogenic disorders.

Published in:

Human Mutation, 2011, v. 32, n. 2, p. 144, doi. 10.1002/humu.21400

By:

Kuhlenbäumer, Gregor;
Hullmann, Julia;
Appenzeller, Silke

Publication type:

Article

A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization.

Published in:

Human Mutation, 2011, v. 32, n. 2, p. E2026, doi. 10.1002/humu.21422

By:

Tangui Le Guen;
Yann Fichou;
Nectoux, Juliette;
Bahi-Buisson, Nadia;
Rivier, François;
Boddaert, Nathalie;
Diebold, Bertrand;
Héron, Delphine;
Chelly, Jamel;
Bienvenu, Thierry

Publication type:

Article

Massive parallel DNA pyrosequencing analysis of the tumor suppressor BRG1/SMARCA4 in lung primary tumors.

Published in:

Human Mutation, 2011, v. 32, n. 2, p. E1999, doi. 10.1002/humu.21415

By:

Rodriguez-Nieto, Salvador;
Cañada, Andres;
Pros, Eva;
Pinto, Ana I.;
Torres-Lanzas, Juan;
Lopez-Rios, Fernando;
Sanchez-Verde, Lydia;
Pisano, David G.;
Sanchez-Cespedes, Montse

Publication type:

Article

Searching for the missing heritability of complex diseases.

Published in:

Human Mutation, 2011, v. 32, n. 2, p. 259, doi. 10.1002/humu.21392

By:

Hemminki, Kari;
Försti, Asta;
Houlston, Richard;
Bermejo, Justo Lorenzo

Publication type:

Article

SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3′ splice site.

Published in:

Human Mutation, 2011, v. 32, n. 2, p. 220, doi. 10.1002/humu.21419

By:

Koed Doktor, Thomas;
Schroeder, Lisbeth Dahl;
Vested, Anne;
Palmfeldt, Johan;
Andersen, Henriette Skovgaard;
Gregersen, Niels;
Andresen, Brage Storstein

Publication type:

Article

Dependence of colorectal cancer risk on the parent-of-origin of mutations in DNA mismatch repair genes.

Published in:

Human Mutation, 2011, v. 32, n. 2, p. 207, doi. 10.1002/humu.21408

By:

van Vliet, Christine M.;
Dowty, James G.;
van Vliet, Jane L.;
Smith, Letitia;
Mead, Leeanne J.;
Macrae, Finlay A.;
John, D. James B. St.;
Giles, Graham G.;
Southey, Melissa C.;
Jenkins, Mark A.;
Velan, Gary M.;
Hopper, John L.

Publication type:

Article