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
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
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
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
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
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
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
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
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
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
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
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
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