Search Results

There are 12352 results for: content related to: Utility of multiplex ligation-dependent probe amplification (MLPA) for hemophilia mutation screening

  1. Comprehensive genotyping for 18 blood group systems using a multiplex ligation-dependent probe amplification assay shows a high degree of accuracy

    Transfusion

    Volume 53, Issue 11pt2, November 2013, Pages: 2899–2909, Lonneke Haer-Wigman, Yanli Ji, Martin Lodén, Masja de Haas, C. Ellen van der Schoot and Barbera Veldhuisen

    Version of Record online : 29 AUG 2013, DOI: 10.1111/trf.12410

  2. Multiplex ligation-dependent probe amplification as first mutation screening for large deletions and duplications in haemophilia

    Haemophilia

    Volume 23, Issue 2, March 2017, Pages: e124–e132, D. Belvini, R. Salviato, P. Radossi and G. Tagariello

    Version of Record online : 15 FEB 2017, DOI: 10.1111/hae.13143

  3. Stuffer-free multiplex ligation-dependent probe amplification based on conformation-sensitive capillary electrophoresis: A novel technology for robust multiplex determination of copy number variation

    ELECTROPHORESIS

    Volume 33, Issue 19-20, October 2012, Pages: 3052–3061, Gi Won Shin, Seung-Hyun Jung, Seon-Hee Yim, Boram Chung, Gyoo Yeol Jung and Yeun-Jun Chung

    Version of Record online : 11 SEP 2012, DOI: 10.1002/elps.201200334

  4. You have full text access to this OnlineOpen article
    A molecular diagnostic approach able to detect the recurrent genetic prognostic factors typical of presenting myeloma

    Genes, Chromosomes and Cancer

    Volume 54, Issue 2, February 2015, Pages: 91–98, Eileen M. Boyle, Paula Z. Proszek, Martin F. Kaiser, Dil Begum, Nasrin Dahir, Suvi Savola, Christopher P. Wardell, Xavier Leleu, Fiona M. Ross, Laura Chiecchio, Gordon Cook, Mark T. Drayson, Richard G. Owen, John M. Ashcroft, Graham H. Jackson, James Anthony Child, Faith E. Davies, Brian A. Walker and Gareth J. Morgan

    Version of Record online : 7 OCT 2014, DOI: 10.1002/gcc.22222

  5. Diagnostic yield by supplementing prenatal metaphase karyotyping with MLPA for microdeletion syndromes and subtelomere imbalances

    Prenatal Diagnosis

    Volume 30, Issue 10, October 2010, Pages: 995–999, S. Kjaergaard, K. Sundberg, F. S. Jørgensen, M. D. Rohde, A. M. Lind, T. Gerdes, A. Tabor and M. Kirchhoff

    Version of Record online : 8 SEP 2010, DOI: 10.1002/pd.2604

  6. Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder

    Human Mutation

    Volume 33, Issue 11, November 2012, Pages: 1599–1609, Julia Vogt, Tanja Mussotter, Kathrin Bengesser, Kathleen Claes, Josef Högel, Nadia Chuzhanova, Chuanhua Fu, Jenneke van den Ende, Victor-Felix Mautner, David N. Cooper, Ludwine Messiaen and Hildegard Kehrer-Sawatzki

    Version of Record online : 20 AUG 2012, DOI: 10.1002/humu.22171

  7. Using MS-MLPA as an efficient screening tool for detecting 9p21 abnormalities in pediatric acute lymphoblastic leukemia

    Pediatric Blood & Cancer

    Volume 58, Issue 6, June 2012, Pages: 852–859, R. Brett Gardiner, Barbara A. Morash, Christie Riddell, Hao Wang, Conrad V. Fernandez, Margaret Yhap and Jason N. Berman

    Version of Record online : 27 JUL 2011, DOI: 10.1002/pbc.23285

  8. Multiplex Ligation-dependent Probe Amplification (MLPA) as a stand-alone test for rapid aneuploidy detection in amniotic fluid cells

    Prenatal Diagnosis

    Volume 28, Issue 11, November 2008, Pages: 1004–1010, Angelique J. A. Kooper, Brigitte H. W. Faas, Ellen Kater-Baats, Ton Feuth, Jasper C. J. A. Janssen, Ineke van der Burgt, Fred K. Lotgering, Ad Geurts van Kessel and Arie P. T. Smits

    Version of Record online : 16 OCT 2008, DOI: 10.1002/pd.2111

  9. You have free access to this content
    Abstracts

    Haemophilia

    Volume 18, Issue s3, July 2012, Pages: 1–208,

    Version of Record online : 18 JUN 2012, DOI: 10.1111/j.1365-2516.2012.02820.x

  10. Multiplex ligation-dependent probe amplification (MLPA) in prenatal diagnosis—experience of a large series of rapid testing for aneuploidy of chromosomes 13, 18, 21, X, and Y

    Prenatal Diagnosis

    Volume 28, Issue 12, December 2008, Pages: 1119–1125, Tommy Gerdes, Maria Kirchhoff, Anne-Marie Lind, Gitte Vestergaard Larsen and Susanne Kjaergaard

    Version of Record online : 10 NOV 2008, DOI: 10.1002/pd.2137

  11. An MLPA-Based Strategy for Discrete CNV Genotyping: CNV-miRNAs as an Example

    Human Mutation

    Volume 34, Issue 5, May 2013, Pages: 763–773, Malgorzata Marcinkowska-Swojak, Barbara Uszczynska, Marek Figlerowicz and Piotr Kozlowski

    Version of Record online : 8 MAR 2013, DOI: 10.1002/humu.22288

  12. Rapid detection of chromosomal aneuploidies in uncultured amniocytes by multiplex ligation-dependent probe amplification (MLPA)

    Prenatal Diagnosis

    Volume 25, Issue 11, November 2005, Pages: 1032–1039, R. Hochstenbach, J. Meijer, J. van de Brug, I. Vossebeld-Hoff, R. Jansen, R. B. van der Luijt, R. J. Sinke, G. C. M. L. Page-Christiaens, J.-K. Ploos van Amstel and J. M. de Pater

    Version of Record online : 17 OCT 2005, DOI: 10.1002/pd.1247

  13. Detailed analysis of 22q11.2 with a high density MLPA probe set

    Human Mutation

    Volume 29, Issue 3, March 2008, Pages: 433–440, G.R. Jalali, J.A.S. Vorstman, Ab Errami, R. Vijzelaar, J. Biegel, T. Shaikh and B.S. Emanuel

    Version of Record online : 21 NOV 2007, DOI: 10.1002/humu.20640

  14. High-Resolution Analysis of Genomic Copy Number Changes

    Genomics: Essential Methods

    Mario Hermsen, Jordy Coffa, Bauke Ylstra, Gerrit Meijer, Hans Morreau, Ronald van Eijk, Jan Oosting, Tom van Wezel, Pages: 1–31, 2010

    Published Online : 22 NOV 2010, DOI: 10.1002/9780470711675.ch1

  15. You have free access to this content
    Increased nuchal translucency with normal karyotype: a follow-up study of 100 cases supplemented with CGH and MLPA analyses

    Ultrasound in Obstetrics & Gynecology

    Volume 34, Issue 6, December 2009, Pages: 618–622, K. V. Schou, M. Kirchhoff, U. Nygaard, C. Jørgensen and K. Sundberg

    Version of Record online : 1 DEC 2009, DOI: 10.1002/uog.7468

  16. Diagnosis of genetic abnormalities in developmentally delayed patients: A new strategy combining MLPA and array-CGH

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 6, 15 March 2007, Pages: 610–614, Marjolein Kriek, Jeroen Knijnenburg, Stefan J. White, Carla Rosenberg, Johan T. den Dunnen, Gert-Jan B. van Ommen, Hans J. Tanke, Martijn H. Breuning and Karoly Szuhai

    Version of Record online : 22 FEB 2007, DOI: 10.1002/ajmg.a.31593

  17. Uncovering recurrent microdeletion syndromes and subtelomeric deletions/duplications through non-selective application of a MLPA-based extended prenatal panel in routine prenatal diagnosis

    Prenatal Diagnosis

    Volume 31, Issue 6, June 2011, Pages: 571–577, Christopher Konialis, Birgitta Hagnefelt, Sophia Sevastidou, Sophia Karapanou, Katerina Pispili, Aggeliki Markaki and Constantinos Pangalos

    Version of Record online : 29 MAR 2011, DOI: 10.1002/pd.2750

  18. Familial 22q11.2 duplication: a three-generation family with a 3-Mb duplication and a familial 1.5-Mb duplication

    Clinical Genetics

    Volume 73, Issue 2, February 2008, Pages: 160–164, S Yu, K Cox, K Friend, S Smith, R Buchheim, S Bain, J Liebelt, E Thompson and D Bratkovic

    Version of Record online : 12 DEC 2007, DOI: 10.1111/j.1399-0004.2007.00938.x

  19. Computational and molecular approaches for predicting unreported causal missense mutations in Belgian patients with haemophilia A

    Haemophilia

    Volume 18, Issue 3, May 2012, Pages: e331–e339, N. LANNOY, I. ABINET, A. BOSMANS, C. LAMBERT, C. VERMYLEN and C. HERMANS

    Version of Record online : 26 AUG 2011, DOI: 10.1111/j.1365-2516.2011.02640.x

  20. Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 24, 15 December 2007, Pages: 2924–2930, Andrea C. Stachon, Berivan Baskin, Adam C. Smith, Andrea Shugar, Cheryl Cytrynbaum, Leona Fishman, Roberto Mendoza-Londono, Regan Klatt, Ahmed Teebi, Peter N. Ray and Rosanna Weksberg

    Version of Record online : 14 NOV 2007, DOI: 10.1002/ajmg.a.32101