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There are 25421 results for: content related to: Phenotype-optimized sequence ensembles substantially improve prediction of disease-causing mutation in cystic fibrosis

  1. 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

    Article first published online : 13 AUG 2013, DOI: 10.1002/humu.22382

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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

    Article first published online : 19 SEP 2011, DOI: 10.1002/humu.21545

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    A Classification Model Relative to Splicing for Variants of Unknown Clinical Significance: Application to the CFTR Gene

    Human Mutation

    Volume 34, Issue 5, May 2013, Pages: 774–784, Caroline Raynal, David Baux, Corinne Theze, Corinne Bareil, Magali Taulan, Anne-Françoise Roux, Mireille Claustres, Sylvie Tuffery-Giraud and Marie des Georges

    Article first published online : 5 APR 2013, DOI: 10.1002/humu.22291

  4. 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

    Article first published online : 9 APR 2014, DOI: 10.1002/humu.22548

  5. 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

    Article first published online : 28 MAR 2013, DOI: 10.1002/humu.22300

  6. 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

    Article first published online : 10 SEP 2014, DOI: 10.1002/humu.22624

  7. CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes

    Human Mutation

    Volume 33, Issue 11, November 2012, Pages: 1557–1565, Ayman El-Seedy, Emmanuelle Girodon, Caroline Norez, Julie Pajaud, Marie-Claude Pasquet, Alix de Becdelièvre, Thierry Bienvenu, Marie des Georges, Faïza Cabet, Guy Lalau, Eric Bieth, Martine Blayau, Frédéric Becq, Alain Kitzis, Pascale Fanen and Véronique Ladeveze

    Article first published online : 2 JUL 2012, DOI: 10.1002/humu.22129

  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

    Article first published online : 7 JUN 2011, DOI: 10.1002/humu.21511

  9. Corneal Dystrophy-Causing SLC4A11 Mutants: Suitability for Folding-Correction Therapy

    Human Mutation

    Volume 35, Issue 9, September 2014, Pages: 1082–1091, Sampath K. Loganathan and Joseph R. Casey

    Article first published online : 28 JUN 2014, DOI: 10.1002/humu.22601

  10. Mutation Update and Genotype–Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies

    Human Mutation

    Volume 35, Issue 7, July 2014, Pages: 779–790, Minttu Marttila, Vilma-Lotta Lehtokari, Steven Marston, Tuula A. Nyman, Christine Barnerias, Alan H. Beggs, Enrico Bertini, Özge Ceyhan-Birsoy, Pascal Cintas, Marion Gerard, Brigitte Gilbert-Dussardier, Jacob S. Hogue, Cheryl Longman, Bruno Eymard, Moshe Frydman, Peter B. Kang, Lars Klinge, Hanna Kolski, Hans Lochmüller, Laurent Magy, Véronique Manel, Michèle Mayer, Eugenio Mercuri, Kathryn N. North, Sylviane Peudenier-Robert, Helena Pihko, Frank J. Probst, Ricardo Reisin, Willie Stewart, Ana Lia Taratuto, Marianne de Visser, Ekkehard Wilichowski, John Winer, Kristen Nowak, Nigel G. Laing, Tom L. Winder, Nicole Monnier, Nigel F. Clarke, Katarina Pelin, Mikaela Grönholm and Carina Wallgren-Pettersson

    Article first published online : 1 MAY 2014, DOI: 10.1002/humu.22554

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    UMD-CFTR: A database dedicated to CF and CFTR-related disorders

    Human Mutation

    Volume 31, Issue 9, September 2010, Pages: 1011–1019, Corinne Bareil, Corinne Thèze, Christophe Béroud, Dalil Hamroun, Caroline Guittard, Céline René, Damien Paulet, Marie des Georges and Mireille Claustres

    Article first published online : 6 JUL 2010, DOI: 10.1002/humu.21316

  12. MitImpact: an Exhaustive Collection of Pre-computed Pathogenicity Predictions of Human Mitochondrial Non-synonymous Variants

    Human Mutation

    Volume 36, Issue 2, February 2015, Pages: E2413–E2422, Stefano Castellana, Judit Rónai and Tommaso Mazza

    Article first published online : 17 DEC 2014, DOI: 10.1002/humu.22720

  13. Large Numbers of Genetic Variants Considered to be Pathogenic are Common in Asymptomatic Individuals

    Human Mutation

    Volume 34, Issue 9, September 2013, Pages: 1216–1220, Christopher A. Cassa, Mark Y. Tong and Daniel M. Jordan

    Article first published online : 5 AUG 2013, DOI: 10.1002/humu.22375

  14. Functional analysis of nonsynonymous single nucleotide polymorphisms in human SLC26A9

    Human Mutation

    Volume 33, Issue 8, August 2012, Pages: 1275–1284, An-Ping Chen, Min-Hwang Chang and Michael F. Romero

    Article first published online : 7 JUN 2012, DOI: 10.1002/humu.22107

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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

  16. 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

    Article first published online : 8 NOV 2012, DOI: 10.1002/humu.22236

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    Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 57–65, Hashem A. Shihab, Julian Gough, David N. Cooper, Peter D. Stenson, Gary L. A. Barker, Keith J. Edwards, Ian N. M. Day and Tom R. Gaunt

    Article first published online : 2 NOV 2012, DOI: 10.1002/humu.22225

  18. EEC- and ADULT-Associated TP63 Mutations Exhibit Functional Heterogeneity Toward P63 Responsive Sequences

    Human Mutation

    Volume 34, Issue 6, June 2013, Pages: 894–904, Paola Monti, Debora Russo, Renata Bocciardi, Giorgia Foggetti, Paola Menichini, Maria T. Divizia, Margherita Lerone, Claudio Graziano, Anita Wischmeijer, Hector Viadiu, Roberto Ravazzolo, Alberto Inga and Gilberto Fronza

    Article first published online : 2 APR 2013, DOI: 10.1002/humu.22304

  19. Comprehensive Clinical and Molecular Analysis of 12 Families with Type 1 Recessive Cutis Laxa

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 111–121, Bert Callewaert, Chi-Ting Su, Tim Van Damme, Philip Vlummens, Fransiska Malfait, Olivier Vanakker, Bianca Schulz, Meghan Mac Neal, Elaine C. Davis, Joseph G.H. Lee, Aicha Salhi, Sheila Unger, Ketil Heimdal, Salome De Almeida, Uwe Kornak, Harald Gaspar, Jean-Luc Bresson, Katrina Prescott, Maria E. Gosendi, Sahar Mansour, Gérald E. Piérard, Suneeta Madan-Khetarpal, Frank C. Sciurba, Sofie Symoens, Paul J Coucke, Lionel Van Maldergem, Zsolt Urban and Anne De Paepe

    Article first published online : 13 AUG 2012, DOI: 10.1002/humu.22165

  20. Molecular Characterization of Carbamoyl-Phosphate Synthetase (CPS1) Deficiency Using Human Recombinant CPS1 as a Key Tool

    Human Mutation

    Volume 34, Issue 8, August 2013, Pages: 1149–1159, Carmen Diez-Fernandez, Ana I. Martínez, Satu Pekkala, Belén Barcelona, Isabel Pérez-Arellano, Ana María Guadalajara, Marshall Summar, Javier Cervera and Vicente Rubio

    Article first published online : 28 MAY 2013, DOI: 10.1002/humu.22349