Works matching IS 10597794 AND DT 2008 AND VI 29 AND IP 4

Results: 16

Discovery of genetic profiles impacting response to chemotherapy: application to gemcitabine.

Published in:

Human Mutation, 2008, v. 29, n. 4, p. 461, doi. 10.1002/humu.20732

By:

Jarjanazi, Hamdi;
Kiefer, Jeffrey;
Savas, Sevtap;
Briollais, Laurent;
Tuzmen, Sukru;
Pabalan, Noel;
Ibrahim-Zada, Irada;
Mousses, Spyro;
Ozcelik, Hilmi

Publication type:

Article

SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR.

Published in:

Human Mutation, 2008, v. 29, n. 4, p. 565, doi. 10.1002/humu.20714

By:

Kochhar, Amit;
Orten, Dana J.;
Sorensen, Jessica L.;
Fischer, Stephanie M.;
Cremers, Cor W. R. J.;
Kimberling, William J.;
Smith, Richard J.H.

Publication type:

Article

Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.

Published in:

Human Mutation, 2008, v. 29, n. 4, p. 537, doi. 10.1002/humu.20691

By:

Orten, Dana J.;
Fischer, Stephanie M.;
Sorensen, Jessica L.;
Radhakrishna, Uppala;
Cremers, Cor W.R.J.;
Marres, Henri A.M.;
Van Camp, Guy;
Welch, Katherine O.;
Smith, Richard J.H.;
Kimberling, William J.

Publication type:

Article

Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.

Published in:

Human Mutation, 2008, v. 29, n. 4, p. 502, doi. 10.1002/humu.20677

By:

Riazuddin, Saima;
Nazli, Sabiha;
Ahmed, Zubair M.;
Yang, Yi;
Zulfiqar, Fareeha;
Shaikh, Rehan S.;
Zafar, Ahmed U.;
Khan, Shaheen N.;
Sabar, Farooq;
Javid, Fouzia T.;
Wilcox, Edward R.;
Tsilou, Ekaterini;
Boger, Erich T.;
Sellers, James R.;
Belyantseva, Inna A.;
Riazuddin, Sheikh;
Friedman, Thomas B.

Publication type:

Article

PharmGKB and the International Warfarin Pharmacogenetics Consortium: the changing role for pharmacogenomic databases and single-drug pharmacogenetics.

Published in:

2008

By:

Owen, Ryan P.;
Altman, Russ B.;
Klein, Teri E.

Publication type:

Other

Human genome variation and pharmacogenetics.

Published in:

Human Mutation, 2008, v. 29, n. 4, p. 453, doi. 10.1002/humu.20728

By:

Gottlieb, Bruce

Publication type:

Article

A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia.

Published in:

Human Mutation, 2008, v. 29, n. 4, p. 522, doi. 10.1002/humu.20682

By:

Arnoldi, Alessia;
Tonelli, Alessandra;
Crippa, Francesca;
Villani, Gaetano;
Pacelli, Consiglia;
Sironi, Manuela;
Pozzoli, Uberto;
D'Angelo, Maria Grazia;
Meola, Giovanni;
Martinuzzi, Andrea;
Crimella, Claudia;
Redaelli, Francesca;
Panzeri, Chris;
Renieri, Alessandra;
Comi, Giacomo Pietro;
Turconi, Anna Carla;
Bresolin, Nereo;
Bassi, Maria Teresa

Publication type:

Article

Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding.

Published in:

Human Mutation, 2008, v. 29, n. 4, p. 545, doi. 10.1002/humu.20693

By:

Collin, Rob W.J.;
Chellappa, Ramesh;
Pauw, Robert-Jan;
Vriend, Gert;
Oostrik, Jaap;
van Drunen, Wendy;
Huygen, Patrick L.;
Admiraal, Ronald;
Hoefsloot, Lies H.;
Cremers, Frans P.M.;
Xiang, Mengqing;
Cremers, Cor W.R.J.;
Kremer, Hannie

Publication type:

Article

Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression.

Published in:

Human Mutation, 2008, v. 29, n. 4, p. 475, doi. 10.1002/humu.20664

By:

Zhang, Katherine;
Nowak, Inga;
Rushlow, Diane;
Gallie, Brenda L.;
Lohmann, Dietmar R.

Publication type:

Article

Comprehensive analysis of LRRK2 in publicly available Parkinson's disease cases and neurologically normal controls.

Published in:

Human Mutation, 2008, v. 29, n. 4, p. 485, doi. 10.1002/humu.20668

By:

Paisán-Ruíz, Coro;
Nath, Priti;
Washecka, Nicole;
Gibbs, J. Raphael;
Singleton, Andrew B.

Publication type:

Article

Transcriptional deregulation and a missense mutation define ANKRD1 as a candidate gene for total anomalous pulmonary venous return.

Published in:

Human Mutation, 2008, v. 29, n. 4, p. 468, doi. 10.1002/humu.20711

By:

Cinquetti, Raffaella;
Badi, Ileana;
Campione, Marina;
Bortoletto, Elisabetta;
Chiesa, Giulia;
Parolini, Cinzia;
Camesasca, Chiara;
Russo, Antonella;
Taramelli, Roberto;
Acquati, Francesco

Publication type:

Article

Molecular characterization of novel progranulin ( GRN) mutations in frontotemporal dementia.

Published in:

Human Mutation, 2008, v. 29, n. 4, p. 512, doi. 10.1002/humu.20681

By:

Mukherjee, Odity;
Wang, Jun;
Gitcho, Michael;
Chakraverty, Sumi;
Taylor-Reinwald, Lisa;
Shears, Shantia;
Kauwe, John S.K.;
Norton, Joanne;
Levitch, Denise;
Bigio, Eileen H.;
Hatanpaa, Kimmo J.;
White, Charles L.;
Morris, John C.;
Cairns, Nigel J.;
Goate, Alison

Publication type:

Article

Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system.

Published in:

Human Mutation, 2008, v. 29, n. 4, p. 491, doi. 10.1002/humu.20674

By:

Hsi, Gloria;
Cullen, Lara M.;
Macintyre, Georgina;
Chen, Matthew M.;
Glerum, D. Moira;
Cox, Diane W.

Publication type:

Article

Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene.

Published in:

Human Mutation, 2008, v. 29, n. 4, p. 532, doi. 10.1002/humu.20685

By:

Wamelink, Mirjam M.C.;
Struys, Eduard A.;
Jansen, Erwin E.W.;
Levtchenko, Elena N.;
Zijlstra, Fokje S.M.;
Engelke, Udo;
Blom, Henk J.;
Jakobs, Cornelis;
Wevers, Ron A.

Publication type:

Article

Detection and precise mapping of germline rearrangements in BRCA1, BRCA2, MSH2, and MLH1 using zoom-in array comparative genomic hybridization (aCGH).

Published in:

Human Mutation, 2008, v. 29, n. 4, p. 555, doi. 10.1002/humu.20678

By:

Staaf, Johan;
Törngren, Therese;
Rambech, Eva;
Johansson, Ulla;
Persson, Camilla;
Sellberg, Gunilla;
Tellhed, Lina;
Nilbert, Mef;
Borg, Åke

Publication type:

Article

PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum.

Published in:

Human Mutation, 2008, v. 29, n. 4, p. 565, doi. 10.1002/humu.20719

By:

Marongiu, Roberta;
Ferraris, Alessandro;
Ialongo, Tàmara;
Michiorri, Silvia;
Soleti, Francesco;
Ferrari, Francesca;
Elia, Antonio E.;
Ghezzi, Daniele;
Albanese, Alberto;
Altavista, Maria Concetta;
Antonini, Angelo;
Barone, Paolo;
Brusa, Livia;
Cortelli, Pietro;
Martinelli, Paolo;
Pellecchia, Maria Teresa;
Pezzoli, Gianni;
Scaglione, Cesa;
Stanzione, Paolo;
Tinazzi, Michele

Publication type:

Article