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There are 8599 results for: content related to: Genome-wide arrays in routine diagnostics of hematological malignancies

  1. A New Workflow for Whole-Genome Sequencing of Single Human Cells

    Human Mutation

    Vera Binder, Christoph Bartenhagen, Vera Okpanyi, Michael Gombert, Birte Moehlendick, Bianca Behrens, Hans-Ulrich Klein, Harald Rieder, Pina Fanny Ida Krell, Martin Dugas, Nikolas Hendrik Stoecklein and Arndt Borkhardt

    Article first published online : 18 AUG 2014, DOI: 10.1002/humu.22625

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    Clinical Significance of De Novo and Inherited Copy-Number Variation

    Human Mutation

    Volume 34, Issue 12, December 2013, Pages: 1679–1687, Anneke T. Vulto-van Silfhout, Jayne Y. Hehir-Kwa, Bregje W.M. van Bon, Janneke H.M. Schuurs-Hoeijmakers, Stephen Meader, Claudia J.M. Hellebrekers, Ilse J.M. Thoonen, Arjan P.M. de Brouwer, Han G. Brunner, Caleb Webber, Rolph Pfundt, Nicole de Leeuw and Bert B.A. de Vries

    Article first published online : 10 OCT 2013, DOI: 10.1002/humu.22442

  3. Microarray-based genomic profiling as a diagnostic tool in acute lymphoblastic leukemia

    Genes, Chromosomes and Cancer

    Volume 50, Issue 12, December 2011, Pages: 969–981, Annet Simons, Marian Stevens-Kroef, Najat El Idrissi-Zaynoun, Sabine van Gessel, Daniel Olde Weghuis, Eva van den Berg, Esmé Waanders, Peter Hoogerbrugge, Roland Kuiper and Ad Geurts van Kessel

    Article first published online : 31 AUG 2011, DOI: 10.1002/gcc.20919

  4. New insights into the pathogenesis of beckwith–wiedemann and silver–russell syndromes: Contribution of small copy number variations to 11p15 imprinting defects

    Human Mutation

    Volume 32, Issue 10, October 2011, Pages: 1171–1182, Julie Demars, Sylvie Rossignol, Irène Netchine, Kai Syin Lee, Mansur Shmela, Laurence Faivre, Jacques Weill, Sylvie Odent, Salah Azzi, Patrick Callier, Josette Lucas, Christèle Dubourg, Joris Andrieux, Yves Le Bouc, Assam El-Osta and Christine Gicquel

    Article first published online : 8 SEP 2011, DOI: 10.1002/humu.21558

  5. Microarray-based copy number analysis of neurofibromatosis type-1 (NF1)-associated malignant peripheral nerve sheath tumors reveals a role for Rho–GTPase pathway genes in NF1 tumorigenesis

    Human Mutation

    Volume 33, Issue 4, April 2012, Pages: 763–776, Meena Upadhyaya, Gill Spurlock, Laura Thomas, Nick S. T. Thomas, Mark Richards, Viktor-Felix Mautner, David N. Cooper, Abhijit Guha and Jim Yan

    Article first published online : 5 MAR 2012, DOI: 10.1002/humu.22044

  6. RP1L1 Variants are Associated with a Spectrum of Inherited Retinal Diseases Including Retinitis Pigmentosa and Occult Macular Dystrophy

    Human Mutation

    Volume 34, Issue 3, March 2013, Pages: 506–514, Alice E. Davidson, Panagiotis I. Sergouniotis, Donna S. Mackay, Genevieve A. Wright, Naushin H. Waseem, Michel Michaelides, Graham E. Holder, Anthony G. Robson, Anthony T. Moore, Vincent Plagnol and Andrew R. Webster

    Article first published online : 17 JAN 2013, DOI: 10.1002/humu.22264

  7. Modeling Tumor Progression by the Sequential Introduction of Genetic Alterations into the Genome of Human Normal Cells

    Human Mutation

    Volume 34, Issue 2, February 2013, Pages: 330–337, Davide Zecchin, Sabrina Arena, Miriam Martini, Francesco Sassi, Alberto Pisacane, Federica Di Nicolantonio and Alberto Bardelli

    Article first published online : 4 JAN 2013, DOI: 10.1002/humu.22234

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    Unraveling Cellular Phenotypes of Novel TorsinA/TOR1A Mutations

    Human Mutation

    Volume 35, Issue 9, September 2014, Pages: 1114–1122, Franca Vulinovic, Katja Lohmann, Aleksandar Rakovic, Philipp Capetian, Daniel Alvarez-Fischer, Alexander Schmidt, Anne Weißbach, Alev Erogullari, Frank J. Kaiser, Karin Wiegers, Andreas Ferbert, Arndt Rolfs, Christine Klein and Philip Seibler

    Article first published online : 17 JUL 2014, DOI: 10.1002/humu.22604

  9. Somatic Alterations Contributing to Metastasis of a Castration-Resistant Prostate Cancer

    Human Mutation

    Volume 34, Issue 9, September 2013, Pages: 1231–1241, Michael L. Nickerson, Kate M. Im, Kevin J. Misner, Wei Tan, Hong Lou, Bert Gold, David W. Wells, Hector C. Bravo, Karin M. Fredrikson, Timothy T. Harkins, Patrice Milos, Berton Zbar, W. Marston Linehan, Meredith Yeager, Thorkell Andresson, Michael Dean and G. Steven Bova

    Article first published online : 3 JUN 2013, DOI: 10.1002/humu.22346

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    Genetic Variations and Diseases in UniProtKB/Swiss-Prot: The Ins and Outs of Expert Manual Curation

    Human Mutation

    Volume 35, Issue 8, August 2014, Pages: 927–935, Maria Livia Famiglietti, Anne Estreicher, Arnaud Gos, Jerven Bolleman, Sébastien Géhant, Lionel Breuza, Alan Bridge, Sylvain Poux, Nicole Redaschi, Lydie Bougueleret, Ioannis Xenarios and the UniProt Consortium

    Article first published online : 24 JUN 2014, DOI: 10.1002/humu.22594

  11. Novel KCNQ2 and KCNQ3 Mutations in a Large Cohort of Families with Benign Neonatal Epilepsy: First Evidence for an Altered Channel Regulation by Syntaxin-1A

    Human Mutation

    Volume 35, Issue 3, March 2014, Pages: 356–367, Maria Virginia Soldovieri, Nadia Boutry-Kryza, Mathieu Milh, Diane Doummar, Benedicte Heron, Emilie Bourel, Paolo Ambrosino, Francesco Miceli, Michela De Maria, Nathalie Dorison, Stephane Auvin, Bernard Echenne, Julie Oertel, Audrey Riquet, Laetitia Lambert, Marion Gerard, Anne Roubergue, Alain Calender, Cyril Mignot, Maurizio Taglialatela and Gaetan Lesca

    Article first published online : 13 JAN 2014, DOI: 10.1002/humu.22500

  12. Sensitive Detection of KRAS Mutations Using Enhanced-ice-COLD-PCR Mutation Enrichment and Direct Sequence Identification

    Human Mutation

    Volume 34, Issue 11, November 2013, Pages: 1568–1580, Alexandre How Kit, Nicolas Mazaleyrat, Antoine Daunay, Helene Myrtue Nielsen, Benoît Terris and Jörg Tost

    Article first published online : 17 SEP 2013, DOI: 10.1002/humu.22427

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    TP53 Mutations in Human Cancer: Database Reassessment and Prospects for the Next Decade

    Human Mutation

    Volume 35, Issue 6, June 2014, Pages: 672–688, Bernard Leroy, Martha Anderson and Thierry Soussi

    Article first published online : 20 MAY 2014, DOI: 10.1002/humu.22552

  14. Mutation of POC1B in a Severe Syndromic Retinal Ciliopathy

    Human Mutation

    Bodo B. Beck, Jennifer B. Phillips, Malte P. Bartram, Jeremy Wegner, Michaela Thoenes, Andrea Pannes, Josephina Sampson, Raoul Heller, Heike Göbel, Friederike Koerber, Antje Neugebauer, Andrea Hedergott, Gudrun Nürnberg, Peter Nürnberg, Holger Thiele, Janine Altmüller, Mohammad R. Toliat, Simon Staubach, Kym M. Boycott, Enza Maria Valente, Andreas R. Janecke, Tobias Eisenberger, Carsten Bergmann, Lars Tebbe, Yang Wang, Yundong Wu, Andrew M. Fry, Monte Westerfield, Uwe Wolfrum and Hanno J. Bolz

    Article first published online : 11 AUG 2014, DOI: 10.1002/humu.22618

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    A Homozygous PDE6D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium

    Human Mutation

    Volume 35, Issue 1, January 2014, Pages: 137–146, Sophie Thomas, Kevin J. Wright, Stéphanie Le Corre, Alessia Micalizzi, Marta Romani, Avinash Abhyankar, Julien Saada, Isabelle Perrault, Jeanne Amiel, Julie Litzler, Emilie Filhol, Nadia Elkhartoufi, Mandy Kwong, Jean-Laurent Casanova, Nathalie Boddaert, Wolfgang Baehr, Stanislas Lyonnet, Arnold Munnich, Lydie Burglen, Nicolas Chassaing, Ferechté Encha-Ravazi, Michel Vekemans, Joseph G. Gleeson, Enza Maria Valente, Peter K. Jackson, Iain A. Drummond, Sophie Saunier and Tania Attié-Bitach

    Article first published online : 13 NOV 2013, DOI: 10.1002/humu.22470

  16. Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: A multicenter study

    Human Mutation

    Volume 30, Issue 7, July 2009, Pages: 1082–1092, Dominic J. McMullan, Michael Bonin, Jayne Y. Hehir-Kwa, Bert B.A. de Vries, Andreas Dufke, Eleanor Rattenberry, Marloes Steehouwer, Luminita Moruz, Rolph Pfundt, Nicole de Leeuw, Angelika Riess, Özge Altug-Teber, Herbert Enders, Sylke Singer, Ute Grasshoff, Michael Walter, Judith M. Walker, Catherine V. Lamb, E. Val Davison, Louise Brueton, Olaf Riess and Joris A. Veltman

    Article first published online : 18 MAR 2009, DOI: 10.1002/humu.21015

  17. 0.5 Mb Array as a First-Line Prenatal Cytogenetic Test in Cases without Ultrasound Abnormalities and Its Implementation in Clinical Practice

    Human Mutation

    Volume 34, Issue 9, September 2013, Pages: 1298–1303, Malgorzata I. Srebniak, Lisanne Mout, Diane Van Opstal and Robert-Jan H. Galjaard

    Article first published online : 6 JUN 2013, DOI: 10.1002/humu.22355

  18. Novel CYP2B6 Enzyme Variants in a Rwandese Population: Functional Characterization and Assessment of In Silico Prediction Tools

    Human Mutation

    Volume 34, Issue 5, May 2013, Pages: 725–734, Robert Radloff, Alain Gras, Ulrich M. Zanger, Cécile Masquelier, Karthik Arumugam, Jean-Claude Karasi, Vic Arendt, Carole Seguin-Devaux and Kathrin Klein

    Article first published online : 11 MAR 2013, DOI: 10.1002/humu.22295

  19. SNP array analysis of acute promyelocytic leukemia may be of prognostic relevance and identifies a potential high risk group with recurrent deletions on chromosomal subband 1q31.3

    Genes, Chromosomes and Cancer

    Volume 51, Issue 8, August 2012, Pages: 756–767, Daniel Nowak, Marion Klaumuenzer, Benjamin Hanfstein, Maximilian Mossner, Florian Nolte, Verena Nowak, Julia Oblaender, Anna Hecht, Gero Hütter, Seishi Ogawa, Alexander Kohlmann, Claudia Haferlach, Brigitte Schlegelberger, Jan Braess, Wolfgang Seifarth, Alice Fabarius, Philipp Erben, Susanne Saussele, Martin C. Müller, Andreas Reiter, Thomas Buechner, Christel Weiss, Wolf-Karsten Hofmann and Eva Lengfelder

    Article first published online : 9 APR 2012, DOI: 10.1002/gcc.21961

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    Genome-wide arrays: Quality criteria and platforms to be used in routine diagnostics

    Human Mutation

    Volume 33, Issue 6, June 2012, Pages: 906–915, Joris R. Vermeesch, Paul D. Brady, Damien Sanlaville, Klaas Kok and Rosalind J. Hastings

    Article first published online : 7 MAY 2012, DOI: 10.1002/humu.22076