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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
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
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
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
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
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

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