Works matching IS 10597794 AND DT 2011 AND VI 32 AND IP 4

Results: 25

SNP and haplotype analysis reveals new HFE variants associated with iron overload trait.

Published in:

Human Mutation, 2011, v. 32, n. 4, p. E2104, doi. 10.1002/humu.21461

By:

Yizhen Yang;
Férec, Claude;
Mura, Catherine

Publication type:

Article

Human dermal fibroblasts derived from oculodentodigital dysplasia patients suggest that patients may have wound-healing defects.

Published in:

Human Mutation, 2011, v. 32, n. 4, p. 456, doi. 10.1002/humu.21472

By:

Churko, Jared M.;
Qing Shao;
Xiang-qun Gong;
Swoboda, Kathryn J.;
Donglin Bai;
Sampson, Jacinda;
Laird, Dale W.

Publication type:

Article

Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: a new class of mutations?

Published in:

Human Mutation, 2011, v. 32, n. 4, p. 467, doi. 10.1002/humu.21471

By:

Khelifi, Mouna Messaoud;
Ishmukhametova, Aliya;
Van Kien, Philippe Khau;
Thorel, Delphine;
Méchin, Déborah;
Perelman, Serge;
Pouget, Jean;
Claustres, Mireille;
Tuffery-Giraud, Sylvie

Publication type:

Article

Exploring the functional consequences of genomic variation: The 2010 Human Genome Variation Society Scientific Meeting.

Published in:

Human Mutation, 2011, v. 32, n. 4, p. 486, doi. 10.1002/humu.21443

By:

Oetting, William S.

Publication type:

Article

Induction of phenotype modifying cytokines by FERMT1 mutations.

Published in:

Human Mutation, 2011, v. 32, n. 4, p. 397, doi. 10.1002/humu.21449

By:

Heinemann, Anja;
Yinghong He;
Zimina, Elena;
Boerries, Melanie;
Busch, Hauke;
Chmel, Nadja;
Kurz, Thorsten;
Bruckner-Tuderman, Leena;
Has, Cristina

Publication type:

Article

Loss of dermatan-4-sulfotransferase 1 (D4ST1/ CHST14) function represents the first dermatan sulfate biosynthesis defect, 'dermatan sulfate-deficient adducted thumb-clubfoot syndrome'.

Published in:

Human Mutation, 2011, v. 32, n. 4, p. 484, doi. 10.1002/humu.21440

By:

Janecke, Andreas R.;
Baenziger, Jacques U.;
Müller, Thomas;
Dündar, Munis

Publication type:

Article

Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.

Published in:

Human Mutation, 2011, v. 32, n. 4, p. 424, doi. 10.1002/humu.21451

By:

Hoogeveen-Westerveld, Marianne;
Wentink, Marjolein;
van den Heuvel, Diana;
Mozaffari, Melika;
Ekong, Rosemary;
Povey, Sue;
den Dunnen, Johan T.;
Metcalfe, Kay;
Vallee, Stephanie;
Krueger, Stefan;
Bergoffen, JoAnn;
Shashi, Vandana;
Elmslie, Frances;
Kwiatkowski, David;
Sampson, Julian;
Vidales, Concha;
Dzarir, Jacinta;
Garcia-Planells, Javier;
Dies, Kira;
Maat-Kievit, Anneke

Publication type:

Article

New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations.

Published in:

Human Mutation, 2011, v. 32, n. 4, p. 445, doi. 10.1002/humu.21462

By:

Callewaert, Bert;
Renard, Marjolijn;
Hucthagowder, Vishwanathan;
Albrecht, Beate;
Hausser, Ingrid;
Blair, Edward;
Dias, Cristina;
Albino, Alice;
Wachi, Hiroshi;
Sato, Fumiaki;
Mecham, Robert P.;
Loeys, Bart;
Coucke, Paul J.;
De Paepe, Anne;
Urban, Zsolt

Publication type:

Article

Phylogenetic and in silico structural analysis of the Parkinson disease-related kinase PINK1.

Published in:

Human Mutation, 2011, v. 32, n. 4, p. 369, doi. 10.1002/humu.21444

By:

Cardona, Fernando;
Sánchez-Mut, Jose Vicente;
Dopazo, Hernán;
Pérez-Tur, Jordi

Publication type:

Article

Characterization of MSH2 variants by endogenous gene modification in mouse embryonic stem cells.

Published in:

Human Mutation, 2011, v. 32, n. 4, p. 389, doi. 10.1002/humu.21448

By:

Wielders, Eva A. L.;
Dekker, Rob J.;
Holt, Ian;
Morris, Glenn E.;
te Riele, Hein

Publication type:

Article

SNCA locus duplication carriers: from genetics to Parkinson disease phenotypes.

Published in:

Human Mutation, 2011, v. 32, n. 4, p. E2079, doi. 10.1002/humu.21459

By:

Mutez, Eugénie;
Leprêtre, Frédéric;
Le Rhun, Emilie;
Larvor, Lydie;
Duflot, Aurélie;
Mouroux, Vincent;
Kerckaert, Jean-Pierre;
Figeac, Martin;
Dujardin, Kathy;
Destée, Alain;
Chartier-Harlin, Marie-Christine

Publication type:

Article

Deciphering the colon cancer genes-report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010.

Published in:

Human Mutation, 2011, v. 32, n. 4, p. 491, doi. 10.1002/humu.21450

By:

Kohonen-Corish, Maija R. J.;
Macrae, Finlay;
Genuardi, Maurizio;
Aretz, Stefan;
Bapat, Bharati;
Bernstein, Inge T.;
Burn, John;
Cotton, Richard G. H.;
den Dunnen, Johan T.;
Frebourg, Thierry;
Greenblatt, Marc S.;
Hofstra, Robert;
Holinski-Feder, Elke;
Lappalainen, Ilkka;
Lindblom, Annika;
Maglott, Donna;
Møller, Pål;
Morreau, Hans;
Möslein, Gabriela;
Sijmons, Rolf

Publication type:

Article

Systematic biochemical analysis of somatic missense mutations in DNA polymerase β found in prostate cancer reveal alteration of enzymatic function.

Published in:

Human Mutation, 2011, v. 32, n. 4, p. 415, doi. 10.1002/humu.21465

By:

Chang Long An;
Desheng Chen;
Makridakis, Nick M.

Publication type:

Article

SNP uniqueness problem: a proof-of-principle in HapMap SNPs.

Published in:

Human Mutation, 2011, v. 32, n. 4, p. 355, doi. 10.1002/humu.21429

By:

Doron, Shany;
Shweiki, Dorit

Publication type:

Article

From lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.

Published in:

Human Mutation, 2011, v. 32, n. 4, p. 379, doi. 10.1002/humu.21391

By:

Hichri, Haifa;
Rendu, John;
Monnier, Nicole;
Coutton, Charles;
Dorseuil, Olivier;
Poussou, Rosa Vargas;
Baujat, Geneviève;
Blanchard, Anne;
Nobili, François;
Ranchin, Bruno;
Remesy, Michel;
Salomon, Rémi;
Satre, Véronique;
Lunardi, Joel

Publication type:

Article

A novel nonstop mutation in TYMP does not induce nonstop mRNA decay in a MNGIE patient with severe neuropathy.

Published in:

Human Mutation, 2011, v. 32, n. 4, p. E2061, doi. 10.1002/humu.21447

By:

Torres-Torronteras, Javier;
Rodriguez-Palmero, Agustí;
Pinós, Tomàs;
Accarino, Anna;
Andreu, Antoni L.;
Pintos-Morell, Guillem;
Martí, Ramon

Publication type:

Article

Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6.

Published in:

Human Mutation, 2011, v. 32, n. 4, p. 436, doi. 10.1002/humu.21458

By:

Raponi, Michela;
Kralovicova, Jana;
Copson, Ellen;
Divina, Petr;
Eccles, Diana;
Johnson, Peter;
Baralle, Diana;
Vorechovsky, Igor

Publication type:

Article

Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort.

Published in:

Human Mutation, 2011, v. 32, n. 4, p. E2091, doi. 10.1002/humu.21460

By:

Audo, Isabelle;
Lancelot, Marie-Elise;
Mohand-Saïd, Saddek;
Antonio, Aline;
Germain, Aurore;
Sahel, José-Alain;
Bhattacharya, Shomi S.;
Zeitz, Christina

Publication type:

Article

A novel nonsense mutation in the APTX gene associated with delayed DNA single-strand break removal fails to enhance sensitivity to different genotoxic agents.

Published in:

Human Mutation, 2011, v. 32, n. 4, p. E2118, doi. 10.1002/humu.21464

By:

Crimella, Claudia;
Cantoni, Orazio;
Guidarelli, Andrea;
Vantaggiato, Chiara;
Martinuzzi, Andrea;
Fiorani, Mara;
Azzolini, Catia;
Orso, Genny;
Bresolin, Nereo;
Bassi, Maria Teresa

Publication type:

Article

Recurrence and variability of germline EPCAM deletions in Lynch syndrome.

Published in:

Human Mutation, 2011, v. 32, n. 4, p. 407, doi. 10.1002/humu.21446

By:

Kuiper, Roland P.;
Vissers, Lisenka E. L. M.;
Venkatachalam, Ramprasath;
Bodmer, Danielle;
Hoenselaar, Eveline;
Goossens, Monique;
Haufe, Aline;
Kamping, Eveline;
Niessen, Renée C.;
Hogervorst, Frans B. L.;
Gille, Johan J. P.;
Redeker, Bert;
Tops, Carli M. J.;
van Gijn, Marielle E.;
van den Ouweland, Ans M.W.;
Rahner, Nils;
Steinke, Verena;
Kahl, Philip;
Holinski-Feder, Elke;
Morak, Monika

Publication type:

Article

Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay.

Published in:

Human Mutation, 2011, v. 32, n. 4, p. E2069, doi. 10.1002/humu.21457

By:

Jenkins, Dagan;
Baynam, Gareth;
De Catte, Luc;
Elcioglu, Nursel;
Gabbett, Michael T.;
Hudgins, Louanne;
Hurst, Jane A.;
Jehee, Fernanda Sarquis;
Oley, Christine;
Wilkie, Andrew O. M.

Publication type:

Article

Pseudoexon Activation Caused by Intronic Double-deletion Events in the DMD Gene.

Published in:

Human Mutation, 2011, v. 32, n. 4, p. v, doi. 10.1002/humu.21497

By:

Jian-Min Chen

Publication type:

Article

Performance of mutation pathogenicity prediction methods on missense variants.

Published in:

Human Mutation, 2011, v. 32, n. 4, p. 358, doi. 10.1002/humu.21445

By:

Thusberg, Janita;
Olatubosun, Ayodeji;
Vihinen, Mauno

Publication type:

Article

Human and Mouse Models Suggest that Subclinical Defects of Wound Healing Contribute to Oculodentodigital Dysplasia (ODDD).

Published in:

Human Mutation, 2011, v. 32, n. 4, p. v, doi. 10.1002/humu.21496

By:

Ming Qi

Publication type:

Article

Heterogeneity in the processing of CLCN5 mutants related to Dent disease.

Published in:

Human Mutation, 2011, v. 32, n. 4, p. 476, doi. 10.1002/humu.21467

By:

Grand, Teddy;
L'Hoste, Sébastien;
Mordasini, David;
Defontaine, Nadia;
Keck, Mathilde;
Pennaforte, Thomas;
Genete, Mathieu;
Laghmani, Kamel;
Teulon, Jacques;
Lourdel, Stéphane

Publication type:

Article