Works matching IS 10597794 AND DT 2012 AND VI 33 AND IP 1

Results: 34

Molecular bypass switches for the targeted correction of ATM mutations.

Published in:

Human Mutation, 2012, v. 33, n. 1, p. vii, doi. 10.1002/humu.22566

By:

Dörk, Thilo

Publication type:

Article

Novel FAM20A mutations in hypoplastic amelogenesis imperfecta.

Published in:

Human Mutation, 2012, v. 33, n. 1, p. 91, doi. 10.1002/humu.21621

By:

Cho, Sang Hyun;
Seymen, Figen;
Lee, Kyung-Eun;
Lee, Sook-Kyung;
Kweon, Young-Sun;
Kim, Kyung Jin;
Jung, Seung-Eun;
Song, Su Jeong;
Yildirim, Mine;
Bayram, Merve;
Tuna, Elif Bahar;
Gencay, Koray;
Kim, Jung-Wook

Publication type:

Article

Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasia.

Published in:

Human Mutation, 2012, v. 33, n. 1, p. 86, doi. 10.1002/humu.21610

By:

Kraus, Marine R.-C.;
Clauin, Séverine;
Pfister, Yvan;
Di Maïo, Massimo;
Ulinski, Tim;
Constam, Daniel;
Bellanné-Chantelot, Christine;
Grapin-Botton, Anne

Publication type:

Article

Somatic mutations in the chromatin remodeling gene ARID1A occur in several tumor types.

Published in:

Human Mutation, 2012, v. 33, n. 1, p. 100, doi. 10.1002/humu.21633

By:

Jones, Siân;
Li, Meng;
Parsons, D. Williams;
Zhang, Xiaosong;
Wesseling, Jelle;
Kristel, Petra;
Schmidt, Marjanka K.;
Markowitz, Sanford;
Yan, Hai;
Bigner, Darell;
Hruban, Ralph H.;
Eshleman, James R.;
Iacobuzio-Donahue, Christine A.;
Goggins, Michael;
Maitra, Anirban;
Malek, Sami N.;
Powell, Steve;
Vogelstein, Bert;
Kinzler, Kenneth W.;
Velculescu, Victor E.

Publication type:

Article

Variants in activators and downstream targets of ATM, radiation exposure, and contralateral breast cancer risk in the WECARE study.

Published in:

Human Mutation, 2012, v. 33, n. 1, p. 158, doi. 10.1002/humu.21604

By:

Brooks, Jennifer D.;
Teraoka, Sharon N.;
Reiner, Anne S.;
Satagopan, Jaya M.;
Bernstein, Leslie;
Thomas, Duncan C.;
Capanu, Marinela;
Stovall, Marilyn;
Smith, Susan A.;
Wei, Shan;
Shore, Roy E.;
Boice, John D.;
Lynch, Charles F.;
Mellemkjær, Lene;
Malone, Kathleen E.;
Liang, Xiaolin;
the WECARE Study Collaborative Group;
Haile, Robert W.;
Concannon, Patrick;
Bernstein, Jonine L.

Publication type:

Article

A database of genetic variants in microRNA genes and their putative functional roles in gene regulation.

Published in:

Human Mutation, 2012, v. 33, n. 1, p. vii, doi. 10.1002/humu.22567

By:

Wang, Junwen

Publication type:

Article

RP1 and autosomal dominant rod-cone dystrophy: Novel mutations, a review of published variants, and genotype-phenotype correlation.

Published in:

Human Mutation, 2012, v. 33, n. 1, p. 73, doi. 10.1002/humu.21640

By:

Audo, Isabelle;
Mohand-Saïd, Saddek;
Dhaenens, Claire-Marie;
Germain, Aurore;
Orhan, Elise;
Antonio, Aline;
Hamel, Christian;
Sahel, José-Alain;
Bhattacharya, Shomi S.;
Zeitz, Christina

Publication type:

Article

Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.

Published in:

Human Mutation, 2012, v. 33, n. 1, p. 144, doi. 10.1002/humu.21611

By:

Jackson, Gail C.;
Mittaz-Crettol, Laureane;
Taylor, Jacqueline A.;
Mortier, Geert R.;
Spranger, Juergen;
Zabel, Bernhard;
Le Merrer, Martine;
Cormier-Daire, Valerie;
Hall, Christine M.;
Offiah, Amaka;
Wright, Michael J.;
Savarirayan, Ravi;
Nishimura, Gen;
Ramsden, Simon C.;
Elles, Rob;
Bonafe, Luisa;
Superti-Furga, Andrea;
Unger, Sheila;
Zankl, Andreas;
Briggs, Michael D.

Publication type:

Article

Menstrual cycle-dependent febrile episode mediated by sequence-specific repression of poly(ADP-ribose) polymerase-1 on the transcription of the human serotonin receptor 1A gene.

Published in:

Human Mutation, 2012, v. 33, n. 1, p. 209, doi. 10.1002/humu.21622

By:

Jiang, Yu-Chen;
Wu, Hung-Ming;
Cheng, Kai-Hsin;
Sunny Sun, H.

Publication type:

Article

Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia.

Published in:

Human Mutation, 2012, v. 33, n. 1, p. 198, doi. 10.1002/humu.21632

By:

Nakamura, Kotoka;
Du, Liutao;
Tunuguntla, Rashmi;
Fike, Francesca;
Cavalieri, Simona;
Morio, Tomohiro;
Mizutani, Shuki;
Brusco, Alfredo;
Gatti, Richard A.

Publication type:

Article

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.

Published in:

Human Mutation, 2012, v. 33, n. 1, p. 165, doi. 10.1002/humu.21614

By:

Stankiewicz, Paweł;
Kulkarni, Shashikant;
Dharmadhikari, Avinash V.;
Sampath, Srirangan;
Bhatt, Samarth S.;
Shaikh, Tamim H.;
Xia, Zhilian;
Pursley, Amber N.;
Cooper, M. Lance;
Shinawi, Marwan;
Paciorkowski, Alex R.;
Grange, Dorothy K.;
Noetzel, Michael J.;
Saunders, Scott;
Simons, Paul;
Summar, Marshall;
Lee, Brendan;
Scaglia, Fernando;
Fellmann, Florence;
Martinet, Danielle

Publication type:

Article

Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients.

Published in:

Human Mutation, 2012, v. 33, n. 1, p. 95, doi. 10.1002/humu.21625

By:

Thompson, Ella R.;
Boyle, Samantha E.;
Johnson, Julie;
Ryland, Georgina L.;
Sawyer, Sarah;
Choong, David Y.H.;
kConFab;
Chenevix-Trench, Georgia;
Trainer, Alison H.;
Lindeman, Geoffrey J.;
Mitchell, Gillian;
James, Paul A.;
Campbell, Ian G.

Publication type:

Article

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

Published in:

Human Mutation, 2012, v. 33, n. 1, p. 42, doi. 10.1002/humu.21624

By:

Kousi, Maria;
Lehesjoki, Anna-Elina;
Mole, Sara E.

Publication type:

Article

A Recurrent loss-of-function alanyl-tRNA synthetase ( AARS ) mutation in patients with charcot-marie-tooth disease type 2N (CMT2N).

Published in:

Human Mutation, 2012, v. 33, n. 1, p. 244, doi. 10.1002/humu.21635

By:

McLaughlin, Heather M.;
Sakaguchi, Reiko;
Giblin, William;
Wilson, Thomas E.;
Biesecker, Leslie;
Lupski, James R.;
Talbot, Kevin;
Vance, Jeffery M.;
Züchner, Stephan;
Lee, Yi-Chung;
Kennerson, Marina;
Hou, Ya-Ming;
Nicholson, Garth;
Antonellis, Anthony

Publication type:

Article

Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility.

Published in:

Human Mutation, 2012, v. 33, n. 1, p. 180, doi. 10.1002/humu.21617

By:

Crépin, Michel;
Dieu, Marie-Claire;
Lejeune, Sophie;
Escande, Fabienne;
Boidin, Denis;
Porchet, Nicole;
Morin, Gilles;
Manouvrier, Sylvie;
Mathieu, Michèle;
Buisine, Marie-Pierre

Publication type:

Article

Sixteen years and counting: The current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias.

Published in:

Human Mutation, 2012, v. 33, n. 1, p. 29, doi. 10.1002/humu.21636

By:

Foldynova-Trantirkova, Silvie;
Wilcox, William R.;
Krejci, Pavel

Publication type:

Article

Genotype-phenotype correlation in primary carnitine deficiency.

Published in:

Human Mutation, 2012, v. 33, n. 1, p. 118, doi. 10.1002/humu.21607

By:

Rose, Emily C.;
di San Filippo, Cristina Amat;
Ndukwe Erlingsson, Uzochi C.;
Ardon, Orly;
Pasquali, Marzia;
Longo, Nicola

Publication type:

Article

Classification of missense substitutions in the BRCA genes: A database dedicated to Ex-UVs.

Published in:

Human Mutation, 2012, v. 33, n. 1, p. 22, doi. 10.1002/humu.21629

By:

Vallée, Maxime P.;
Francy, Tiana C.;
Judkins, Megan K.;
Babikyan, Davit;
Lesueur, Fabienne;
Gammon, Amanda;
Goldgar, David E.;
Couch, Fergus J.;
Tavtigian, Sean V.

Publication type:

Article

Mutational spectrum in the Ca<sup>2+</sup>-activated cation channel gene TRPM4 in patients with cardiac conductance disturbances.

Published in:

Human Mutation, 2012, v. 33, n. 1, p. 109, doi. 10.1002/humu.21599

By:

Stallmeyer, Birgit;
Zumhagen, Sven;
Denjoy, Isabelle;
Duthoit, Guillaume;
Hébert, Jean-Louis;
Ferrer, Xavier;
Maugenre, Svetlana;
Schmitz, Wilhelm;
Kirchhefer, Uwe;
Schulze-Bahr, Ellen;
Guicheney, Pascale;
Schulze-Bahr, Eric

Publication type:

Article

A novel form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia.

Published in:

Human Mutation, 2012, v. 33, n. 1, p. 218, doi. 10.1002/humu.21631

By:

Suleman, Farhana;
Gualeni, Benedetta;
Gregson, Hannah J.;
Leighton, Matthew P.;
Piróg, Katarzyna A.;
Edwards, Sarah;
Holden, Paul;
Boot-Handford, Raymond P.;
Briggs, Michael D.

Publication type:

Article

Rapid and efficient human mutation detection using a bench-top next-generation DNA sequencer.

Published in:

Human Mutation, 2012, v. 33, n. 1, p. 281, doi. 10.1002/humu.21602

By:

Jiang, Qian;
Turner, Tychele;
Sosa, Maria X.;
Rakha, Ankit;
Arnold, Stacey;
Chakravarti, Aravinda

Publication type:

Article

Carboxypeptidase A6 gene ( CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy.

Published in:

Human Mutation, 2012, v. 33, n. 1, p. 124, doi. 10.1002/humu.21613

By:

Salzmann, Annick;
Guipponi, Michel;
Lyons, Peter J.;
Fricker, Lloyd D.;
Sapio, Matthew;
Lambercy, Carmen;
Buresi, Catherine;
Ouled Amar Bencheikh, Bouchra;
Lahjouji, Fatiha;
Ouazzani, Reda;
Crespel, Arielle;
Chaigne, Denys;
Malafosse, Alain

Publication type:

Article

Mandatory variant submission-Our experiences.

Published in:

Human Mutation, 2012, v. 33, n. 1, p. 1, doi. 10.1002/humu.21657

By:

Dunnen, Johan den;
Cutting, Garry R.;
Paalman, Mark H.

Publication type:

Article

Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum.

Published in:

Human Mutation, 2012, v. 33, n. 1, p. 64, doi. 10.1002/humu.21639

By:

Whalen, Sandra;
Héron, Delphine;
Gaillon, Thierry;
Moldovan, Oana;
Rossi, Massimiliano;
Devillard, Françoise;
Giuliano, Fabienne;
Soares, Gabriela;
Mathieu-Dramard, Michelle;
Afenjar, Alexandra;
Charles, Perrine;
Mignot, Cyril;
Burglen, Lydie;
Van Maldergem, Lionel;
Piard, Juliette;
Aftimos, Salim;
Mancini, Grazia;
Dias, Patricia;
Philip, Nicole;
Goldenberg, Alice

Publication type:

Article

ENIGMA-Evidence-based network for the interpretation of germline mutant alleles: An international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes.

Published in:

Human Mutation, 2012, v. 33, n. 1, p. 2, doi. 10.1002/humu.21628

By:

Spurdle, Amanda B.;
Healey, Sue;
Devereau, Andrew;
Hogervorst, Frans B. L.;
Monteiro, Alvaro N. A.;
Nathanson, Katherine L.;
Radice, Paolo;
Stoppa-Lyonnet, Dominique;
Tavtigian, Sean;
Wappenschmidt, Barbara;
Couch, Fergus J.;
Goldgar, David E.

Publication type:

Article

Functional characterization of splicing and ligand-binding domain variants in the LDL receptor.

Published in:

Human Mutation, 2012, v. 33, n. 1, p. 232, doi. 10.1002/humu.21630

By:

Etxebarria, Aitor;
Palacios, Lourdes;
Stef, Marianne;
Tejedor, Diego;
Uribe, Kepa B.;
Oleaga, Amalia;
Irigoyen, Luis;
Torres, Beatriz;
Ostolaza, Helena;
Martin, Cesar

Publication type:

Article

Competitive amplification of differentially melting amplicons (CADMA) enables sensitive and direct detection of all mutation types by high-resolution melting analysis.

Published in:

Human Mutation, 2012, v. 33, n. 1, p. 264, doi. 10.1002/humu.21598

By:

Kristensen, Lasse S.;
Andersen, Gitte B.;
Hager, Henrik;
Hansen, Lise Lotte

Publication type:

Article

Genome-wide identification of SNPs in microRNA genes and the SNP effects on microRNA target binding and biogenesis.

Published in:

Human Mutation, 2012, v. 33, n. 1, p. 254, doi. 10.1002/humu.21641

By:

Gong, Jing;
Tong, Yin;
Zhang, Hong-Mei;
Wang, Kai;
Hu, Tao;
Shan, Ge;
Sun, Jun;
Guo, An-Yuan

Publication type:

Article

Fine-tiling array CGH to improve diagnostics for α- and β-thalassemia rearrangements.

Published in:

Human Mutation, 2012, v. 33, n. 1, p. 272, doi. 10.1002/humu.21612

By:

Phylipsen, Marion;
Chaibunruang, Attawut;
Vogelaar, Ingrid P.;
Balak, Jeetindra R. A.;
Schaap, Rianne A. C.;
Ariyurek, Yavuz;
Fucharoen, Supan;
den Dunnen, Johan T.;
Giordano, Piero C.;
Bakker, Egbert;
Harteveld, Cornelis L.

Publication type:

Article

Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3.

Published in:

Human Mutation, 2012, v. 33, n. 1, p. 189, doi. 10.1002/humu.21623

By:

Itzkovitz, Brandon;
Jiralerspong, Sarn;
Nimmo, Graeme;
Loscalzo, Melissa;
Horovitz, Dafne D. G.;
Snowden, Ann;
Moser, Ann;
Steinberg, Steve;
Braverman, Nancy

Publication type:

Article

Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy.

Published in:

Human Mutation, 2012, v. 33, n. 1, p. 104, doi. 10.1002/humu.21634

By:

Vaché, Christel;
Besnard, Thomas;
le Berre, Pauline;
García-García, Gema;
Baux, David;
Larrieu, Lise;
Abadie, Caroline;
Blanchet, Catherine;
Bolz, Hanno Jörn;
Millan, Jose;
Hamel, Christian;
Malcolm, Sue;
Claustres, Mireille;
Roux, Anne-Françoise

Publication type:

Article

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

Published in:

Human Mutation, 2012, v. 33, n. 1, p. 8, doi. 10.1002/humu.21627

By:

Lindor, Noralane M.;
Guidugli, Lucia;
Wang, Xianshu;
Vallée, Maxime P.;
Monteiro, Alvaro N. A.;
Tavtigian, Sean;
Goldgar, David E.;
Couch, Fergus J.

Publication type:

Article

The large-scale distribution of somatic mutations in cancer genomes.

Published in:

Human Mutation, 2012, v. 33, n. 1, p. 136, doi. 10.1002/humu.21616

By:

Hodgkinson, Alan;
Chen, Ying;
Eyre-Walker, Adam

Publication type:

Article

SpliceAid 2: A database of human splicing factors expression data and RNA target motifs.

Published in:

Human Mutation, 2012, v. 33, n. 1, p. 81, doi. 10.1002/humu.21609

By:

Piva, Francesco;
Giulietti, Matteo;
Burini, Alessandra Ballone;
Principato, Giovanni

Publication type:

Article