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There are 31417 results for: content related to: A Classification Model Relative to Splicing for Variants of Unknown Clinical Significance: Application to the CFTR Gene

  1. Experimental Assessment of Splicing Variants Using Expression Minigenes and Comparison with In Silico Predictions

    Human Mutation

    Volume 35, Issue 10, October 2014, Pages: 1249–1259, Neeraj Sharma, Patrick R. Sosnay, Anabela S. Ramalho, Christopher Douville, Arianna Franca, Laura B. Gottschalk, Jeenah Park, Melissa Lee, Briana Vecchio-Pagan, Karen S. Raraigh, Margarida D. Amaral, Rachel Karchin and Garry R. Cutting

    Version of Record online : 10 SEP 2014, DOI: 10.1002/humu.22624

  2. Correction of a Cystic Fibrosis Splicing Mutation by Antisense Oligonucleotides

    Human Mutation

    Volume 37, Issue 2, February 2016, Pages: 209–215, Susana Igreja, Luka A. Clarke, Hugo M. Botelho, Luís Marques and Margarida D. Amaral

    Version of Record online : 2 DEC 2015, DOI: 10.1002/humu.22931

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    Poster Session Abstracts

    Pediatric Pulmonology

    Volume 51, Issue S45, October 2016, Pages: S194–S485,

    Version of Record online : 21 SEP 2016, DOI: 10.1002/ppul.23576

  4. Combined Computational–Experimental Analyses of CFTR Exon Strength Uncover Predictability of Exon-Skipping Level

    Human Mutation

    Volume 34, Issue 6, June 2013, Pages: 873–881, Abdel Aissat, Alix de Becdelièvre, Lisa Golmard, Christian Vasseur, Catherine Costa, Asma Chaoui, Natacha Martin, Bruno Costes, Michel Goossens, Emmanuelle Girodon, Pascale Fanen and Alexandre Hinzpeter

    Version of Record online : 28 MAR 2013, DOI: 10.1002/humu.22300

  5. You have free access to this content
    Poster Session Abstracts

    Pediatric Pulmonology

    Volume 50, Issue S41, October 2015, Pages: S193–S453,

    Version of Record online : 4 SEP 2015, DOI: 10.1002/ppul.23297

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    Errata: Errata

    Vol. 50, Issue 12, 1175, Version of Record online: 9 NOV 2015

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    Disrupted posttranscriptional regulation of the cystic fibrosis transmembrane conductance regulator (CFTR) by a 5′UTR mutation is associated with a cftr-related disease

    Human Mutation

    Volume 32, Issue 10, October 2011, Pages: E2266–E2282, Samuel W. Lukowski, Cristina Bombieri and Ann E. O. Trezise

    Version of Record online : 19 SEP 2011, DOI: 10.1002/humu.21545

  7. Identification of a Novel 5′ Alternative CFTR mRNA Isoform in a Patient with Nasal Polyposis and CFTR Mutations

    Human Mutation

    Volume 35, Issue 7, July 2014, Pages: 805–808, Alexandre Hinzpeter, Alix de Becdelièvre, Eric Bieth, Christine Gameiro, François Brémont, Natacha Martin, Bruno Costes, Catherine Costa, Abdel Aissat, Aurélie Lorot, Virginie Prulière-Escabasse, Michel Goossens, Pascale Fanen and Emmanuelle Girodon

    Version of Record online : 9 APR 2014, DOI: 10.1002/humu.22548

  8. Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens

    Human Mutation

    Volume 32, Issue 8, August 2011, Pages: 912–920, Bernhard Steiner, Jonas Rosendahl, Heiko Witt, Niels Teich, Volker Keim, Hans-Ulrich Schulz, Roland Pfützer, Matthias Lühr, Thomas M. Gress, Renate Nickel, Olfert Landt, Monika Koudova, Milan Macek Jr, Antoni Farre, Teresa Casals, Marie-Claire Desax, Sabina Gallati, Macarena Gomez-Lira, Marie Pierre Audrezet, Claude Férec, Marie des Georges, Mireille Claustres and Kaspar Truninger

    Version of Record online : 7 JUN 2011, DOI: 10.1002/humu.21511

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    Errata: Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens

    Vol. 33, Issue 2, 456, Version of Record online: 12 JAN 2012

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    Molecular mechanisms controlling CFTR gene expression in the airway

    Journal of Cellular and Molecular Medicine

    Volume 16, Issue 6, June 2012, Pages: 1321–1330, Zhaolin Zhang, Christopher J. Ott, Marzena A. Lewandowska, Shih-Hsing Leir and Ann Harris

    Version of Record online : 28 MAY 2012, DOI: 10.1111/j.1582-4934.2011.01439.x

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    Disruption of CFTR chloride channel alters mechanical properties and cAMP-dependent Cl transport of mouse aortic smooth muscle cells

    The Journal of Physiology

    Volume 568, Issue 2, October 2005, Pages: 483–495, Renaud Robert, Caroline Norez and Frédéric Becq

    Version of Record online : 24 OCT 2005, DOI: 10.1113/jphysiol.2005.085019

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    Insertion of natural intron 6a-6b into a human cDNA-derived gene therapy vector for cystic fibrosis improves plasmid stability and permits facile RNA/DNA discrimination

    The Journal of Gene Medicine

    Volume 1, Issue 5, September/October 1999, Pages: 312–321, A. Christopher Boyd, Friedrich Popp, Uwe Michaelis, Heather Davidson, Hazel Davidson-Smith, Ann Doherty, Gerry McLachlan, David J. Porteous and Stefan Seeber

    Version of Record online : 23 NOV 1999, DOI: 10.1002/(SICI)1521-2254(199909/10)1:5<312::AID-JGM55>3.0.CO;2-#

  12. Clinical Sensitivity of Cystic Fibrosis Mutation Panels in a Diverse Population

    Human Mutation

    Volume 37, Issue 2, February 2016, Pages: 201–208, Erin E. Hughes, Colleen F. Stevens, Carlos A. Saavedra-Matiz, Norma P. Tavakoli, Lea M. Krein, April Parker, Zhen Zhang, Breanne Maloney, Beth Vogel, Joan DeCelie-Germana, Catherine Kier, Ran D. Anbar, Maria N. Berdella, Paul G. Comber, Allen J. Dozor, Danielle M. Goetz, Louis Guida Jr, Meyer Kattan, Andrew Ting, Karen Z. Voter, The New York State Cystic Fibrosis Newborn Screening Consortium, Patrick van Roey, Michele Caggana and Denise M. Kay

    Version of Record online : 2 DEC 2015, DOI: 10.1002/humu.22927

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    The Phenotypic Consequences of CFTR Mutations

    Annals of Human Genetics

    Volume 67, Issue 5, September 2003, Pages: 471–485, Rebecca K. Rowntree and Ann Harris

    Version of Record online : 27 AUG 2003, DOI: 10.1046/j.1469-1809.2003.00028.x

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    Congenital tracheal malformation in cystic fibrosis transmembrane conductance regulator-deficient mice

    The Journal of Physiology

    Volume 586, Issue 13, July 2008, Pages: 3231–3243, Elise Bonvin, Philippe Le Rouzic, Jean-François Bernaudin, Charles-Henry Cottart, Clarisse Vandebrouck, Antoine Crié, Teresinha Leal, Annick Clement and Monique Bonora

    Version of Record online : 28 JUN 2008, DOI: 10.1113/jphysiol.2008.150763

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    Altered ion transport by thyroid epithelia from CFTR−/− pigs suggests mechanisms for hypothyroidism in cystic fibrosis

    Experimental Physiology

    Volume 95, Issue 12, December 2010, Pages: 1132–1144, Hui Li, Suhasini Ganta and Peying Fong

    Version of Record online : 20 SEP 2010, DOI: 10.1113/expphysiol.2010.054700

  16. You have full text access to this OnlineOpen article
    Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR

    Molecular Genetics & Genomic Medicine

    Volume 3, Issue 5, September 2015, Pages: 396–403, Daniel Trujillano, Maximilian E. R. Weiss, Julia Köster, Efstathios B. Papachristos, Martin Werber, Krishna Kumar Kandaswamy, Anett Marais, Sabrina Eichler, Jenny Creed, Erol Baysal, Iqbal Yousuf Jaber, Dina Ahmed Mehaney, Chantal Farra and Arndt Rolfs

    Version of Record online : 16 APR 2015, DOI: 10.1002/mgg3.149

  17. Characterization of SLC26A9 in Patients with CF-Like Lung Disease

    Human Mutation

    Volume 34, Issue 10, October 2013, Pages: 1404–1414, Naziha Bakouh, Thierry Bienvenu, Annick Thomas, Jordi Ehrenfeld, Huguette Liote, Delphine Roussel, Philippe Duquesnoy, Nicolette Farman, Marion Viel, Baya Cherif-Zahar, Serge Amselem, Rola Abou Taam, Aleksander Edelman, Gabrielle Planelles and Isabelle Sermet-Gaudelus

    Version of Record online : 13 AUG 2013, DOI: 10.1002/humu.22382

  18. You have full text access to this OnlineOpen article
    Abnormal tracheal smooth muscle function in the CF mouse

    Physiological Reports

    Volume 1, Issue 6, November 2013, Helen L. Wallace, Kevin W. Southern, Marilyn G. Connell, Susan Wray and Theodor Burdyga

    Version of Record online : 5 NOV 2013, DOI: 10.1002/phy2.138

  19. Alternative Splicing of In-Frame Exon Associated with Premature Termination Codons: Implications for Readthrough Therapies

    Human Mutation

    Volume 34, Issue 2, February 2013, Pages: 287–291, Alexandre Hinzpeter, Abdel Aissat, Alix de Becdelièvre, Eric Bieth, Elvira Sondo, Natacha Martin, Bruno Costes, Catherine Costa, Michel Goossens, Luis J.V. Galietta, Emmanuelle Girodon and Pascale Fanen

    Version of Record online : 8 NOV 2012, DOI: 10.1002/humu.22236

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    Correlation Between CFTR Gene Mutations in Iranian Men With Congenital Absence of the Vas Deferens and Anatomical Genital Phenotype

    Journal of Andrology

    Volume 29, Issue 1, January-February 2008, Pages: 35–40, Ramin Radpour, Hamid Gourabi, Mohamad Ali Sadighi Gilani and Ahmad Vosough Dizaj

    Version of Record online : 2 JAN 2013, DOI: 10.2164/jandrol.107.002972