Works matching IS 10597794 AND DT 2012 AND VI 33 AND IP 7

Results: 19

Rett networked database: An integrated clinical and genetic network of rett syndrome databases.

Published in:

Human Mutation, 2012, v. 33, n. 7, p. 1031, doi. 10.1002/humu.22072

By:

Grillo, Elisa;
Villard, Laurent;
Clarke, Angus;
Ben Zeev, Bruria;
Pineda, Mercedes;
Bahi-Buisson, Nadia;
Hryniewiecka-Jaworska, Anna;
Bienvenu, Thierry;
Armstrong, Judith;
Martinez, Ana Roche;
Mari, Francesca;
Veneselli, Edvige;
Russo, Silvia;
Vignoli, Aglaia;
Pini, Giorgio;
Djuric, Milena;
Bisgaard, Anne-Marie;
Mejaški Bošnjak, Vlatka;
Polgár, Noémi;
Cogliati, Francesca

Publication type:

Article

Targeted exome sequencing in clear cell renal cell carcinoma tumors suggests aberrant chromatin regulation as a crucial step in ccRCC development.

Published in:

Human Mutation, 2012, v. 33, n. 7, p. 1059, doi. 10.1002/humu.22090

By:

Duns, Gerben;
Hofstra, Robert M.W.;
Sietzema, Jantine G.;
Hollema, Harry;
van Duivenbode, Inge;
Kuik, Angela;
Giezen, Cor;
Jan, Osinga;
Bergsma, Jelkje J.;
Bijnen, Harrie;
van der Vlies, Pieter;
van den Berg, Eva;
Kok, Klaas

Publication type:

Article

SAMHD1 is a nucleic-acid binding protein that is mislocalized due to aicardi-goutières syndrome-associated mutations.

Published in:

Human Mutation, 2012, v. 33, n. 7, p. 1116, doi. 10.1002/humu.22087

By:

Goncalves, Adriana;
Karayel, Evren;
Rice, Gillian I;
Bennett, Keiryn L;
Crow, Yanick J;
Superti-Furga, Giulio;
Bürckstümmer, Tilmann

Publication type:

Article

Regulatory variations in the era of next-generation sequencing: Implications for clinical molecular diagnostics.

Published in:

Human Mutation, 2012, v. 33, n. 7, p. 1021, doi. 10.1002/humu.22083

By:

Jarinova, Olga;
Ekker, Marc

Publication type:

Article

Deep intronic APC mutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis.

Published in:

Human Mutation, 2012, v. 33, n. 7, p. 1045, doi. 10.1002/humu.22082

By:

Spier, Isabel;
Horpaopan, Sukanya;
Vogt, Stefanie;
Uhlhaas, Siegfried;
Morak, Monika;
Stienen, Dietlinde;
Draaken, Markus;
Ludwig, Michael;
Holinski-Feder, Elke;
Nöthen, Markus M.;
Hoffmann, Per;
Aretz, Stefan

Publication type:

Article

Splice site, frameshift, and chimeric GFAP mutations in Alexander disease.

Published in:

Human Mutation, 2012, v. 33, n. 7, p. 1141, doi. 10.1002/humu.22094

By:

Flint, Daniel;
Li, Rong;
Webster, Lital S.;
Naidu, Sakkubai;
Kolodny, Edwin;
Percy, Alan;
van der Knaap, Marjo;
Powers, James M.;
Mantovani, John F.;
Ekstein, Josef;
Goldman, James E.;
Messing, Albee;
Brenner, Michael

Publication type:

Article

How real are our data? Copy number variation in lymphoblastoid and other cell lines.

Published in:

Human Mutation, 2012, v. 33, n. 7, p. v, doi. 10.1002/humu.22577

By:

Spinner, Nancy B.

Publication type:

Article

Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia.

Published in:

Human Mutation, 2012, v. 33, n. 7, p. 1037, doi. 10.1002/humu.22081

By:

Gazda, Hanna T.;
Preti, Milena;
Sheen, Mee Rie;
O'Donohue, Marie-Françoise;
Vlachos, Adrianna;
Davies, Stella M.;
Kattamis, Antonis;
Doherty, Leana;
Landowski, Michael;
Buros, Christopher;
Ghazvinian, Roxanne;
Sieff, Colin A.;
Newburger, Peter E.;
Niewiadomska, Edyta;
Matysiak, Michal;
Glader, Bertil;
Atsidaftos, Eva;
Lipton, Jeffrey M.;
Gleizes, Pierre-Emmanuel;
Beggs, Alan H.

Publication type:

Article

Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene.

Published in:

Human Mutation, 2012, v. 33, n. 7, p. 1107, doi. 10.1002/humu.22093

By:

Tang, Manshu;
Facchiano, Angelo;
Rachamadugu, Rakesh;
Calderon, Fernanda;
Mao, Rong;
Milanesi, Luciano;
Marabotti, Anna;
Lai, Kent

Publication type:

Article

Deep sequencing of the LRRK2 gene in 14,002 individuals reveals evidence of purifying selection and independent origin of the p.Arg1628Pro mutation in Europe.

Published in:

Human Mutation, 2012, v. 33, n. 7, p. 1087, doi. 10.1002/humu.22075

By:

Rubio, Justin P.;
Topp, Simon;
Warren, Liling;
St. Jean, Pamela L.;
Wegmann, Daniel;
Kessner, Darren;
Novembre, John;
Shen, Judong;
Fraser, Dana;
Aponte, Jennifer;
Nangle, Keith;
Cardon, Lon R.;
Ehm, Margaret G.;
Chissoe, Stephanie L.;
Whittaker, John C.;
Nelson, Matthew R.;
Mooser, Vincent E.

Publication type:

Article

A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/ LMBR1) causes preaxial polydactyly with triphalangeal thumb.

Published in:

Human Mutation, 2012, v. 33, n. 7, p. 1063, doi. 10.1002/humu.22097

By:

Laurell, Tobias;
VanderMeer, Julia E.;
Wenger, Aaron M.;
Grigelioniene, Giedre;
Nordenskjöld, Agneta;
Arner, Marianne;
Ekblom, Anna Gerber;
Bejerano, Gill;
Ahituv, Nadav;
Nordgren, Ann

Publication type:

Article

Insertion of an SVA element, a nonautonomous retrotransposon, in PMS2 intron 7 as a novel cause of lynch syndrome.

Published in:

Human Mutation, 2012, v. 33, n. 7, p. 1051, doi. 10.1002/humu.22092

By:

van der Klift, Heleen M.;
Tops, Carli M.;
Hes, Frederik J.;
Devilee, Peter;
Wijnen, Juul T.

Publication type:

Article

More single-nucleotide mutations surround small insertions than small deletions in primates.

Published in:

Human Mutation, 2012, v. 33, n. 7, p. 1099, doi. 10.1002/humu.22085

By:

Huang, Shengfeng;
Yu, Ting;
Chen, Zelin;
Yuan, Shaochun;
Chen, Shangwu;
Xu, Anlong

Publication type:

Article

11q13 is a susceptibility locus for hormone receptor positive breast cancer.

Published in:

Human Mutation, 2012, v. 33, n. 7, p. 1123, doi. 10.1002/humu.22089

By:

Lambrechts, Diether;
Truong, Therese;
Justenhoven, Christina;
Humphreys, Manjeet K.;
Wang, Jean;
Hopper, John L.;
Dite, Gillian S.;
Apicella, Carmel;
Southey, Melissa C.;
Schmidt, Marjanka K.;
Broeks, Annegien;
Cornelissen, Sten;
van Hien, Richard;
Sawyer, Elinor;
Tomlinson, Ian;
Kerin, Michael;
Miller, Nicola;
Milne, Roger L.;
Zamora, M. Pilar;
Pérez, José Ignacio Arias

Publication type:

Article

Influence of genetic variation on alternate MUTYH transcript isoforms.

Published in:

Human Mutation, 2012, v. 33, n. 7, p. v, doi. 10.1002/humu.22576

By:

Farrington, Susan M.

Publication type:

Article

Systematic analysis and functional annotation of variations in the genome of an Indian individual.

Published in:

Human Mutation, 2012, v. 33, n. 7, p. 1133, doi. 10.1002/humu.22091

By:

Patowary, Ashok;
Purkanti, Ramya;
Singh, Meghna;
Chauhan, Rajendra Kumar;
Bhartiya, Deeksha;
Dwivedi, Om Prakash;
Chauhan, Ganesh;
Bharadwaj, Dwaipayan;
Sivasubbu, Sridhar;
Scaria, Vinod

Publication type:

Article

Chromosomal variation in lymphoblastoid cell lines.

Published in:

Human Mutation, 2012, v. 33, n. 7, p. 1075, doi. 10.1002/humu.22062

By:

Shirley, Matthew D.;
Baugher, Joseph D.;
Stevens, Eric L.;
Tang, Zhenya;
Gerry, Norman;
Beiswanger, Christine M.;
Berlin, Dorit S.;
Pevsner, Jonathan

Publication type:

Article

Inherited deleterious variants in GALNT12 are associated with CRC susceptibility.

Published in:

Human Mutation, 2012, v. 33, n. 7, p. 1056, doi. 10.1002/humu.22088

By:

Clarke, Erica;
Green, Roger C.;
Green, Jane S.;
Mahoney, Krista;
Parfrey, Patrick S.;
Younghusband, H. Banfield;
Woods, Michael O.

Publication type:

Article

MUTYH gene expression and alternative splicing in controls and polyposis patients.

Published in:

Human Mutation, 2012, v. 33, n. 7, p. 1067, doi. 10.1002/humu.22059

By:

Plotz, Guido;
Casper, Markus;
Raedle, Jochen;
Hinrichsen, Inga;
Heckel, Verena;
Brieger, Angela;
Trojan, Jörg;
Zeuzem, Stefan

Publication type:

Article