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There are 52682 results for: content related to: Simple Detection of Germline Microsatellite Instability for Diagnosis of Constitutional Mismatch Repair Cancer Syndrome

  1. Mutation Update for GNE Gene Variants Associated with GNE Myopathy

    Human Mutation

    Volume 35, Issue 8, August 2014, Pages: 915–926, Frank V. Celeste, Thierry Vilboux, Carla Ciccone, John Karl de Dios, May Christine V. Malicdan, Petcharat Leoyklang, John C. McKew, William A. Gahl, Nuria Carrillo-Carrasco and Marjan Huizing

    Article first published online : 17 JUL 2014, DOI: 10.1002/humu.22583

  2. TARDBP and FUS Mutations Associated with Amyotrophic Lateral Sclerosis: Summary and Update

    Human Mutation

    Volume 34, Issue 6, June 2013, Pages: 812–826, Serena Lattante, Guy A. Rouleau and Edor Kabashi

    Article first published online : 29 APR 2013, DOI: 10.1002/humu.22319

  3. Functional Assays for Analysis of Variants of Uncertain Significance in BRCA2

    Human Mutation

    Volume 35, Issue 2, February 2014, Pages: 151–164, Lucia Guidugli, Aura Carreira, Sandrine M. Caputo, Asa Ehlen, Alvaro Galli, Alvaro N.A. Monteiro, Susan L. Neuhausen, Thomas V.O. Hansen, Fergus J. Couch, Maaike P.G. Vreeswijk and ; on behalf of the ENIGMA consortium

    Article first published online : 3 DEC 2013, DOI: 10.1002/humu.22478

  4. Correlating Multiallelic Copy Number Polymorphisms with Disease Susceptibility

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 1–13, Stuart Cantsilieris and Stefan J. White

    Article first published online : 23 AUG 2012, DOI: 10.1002/humu.22172

  5. Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects

    Human Mutation

    Volume 36, Issue 12, December 2015, Pages: 1113–1127, Rajiv D. Machado, Laura Southgate, Christina A. Eichstaedt, Micheala A. Aldred, Eric D. Austin, D. Hunter Best, Wendy K. Chung, Nicola Benjamin, C. Gregory Elliott, Mélanie Eyries, Christine Fischer, Stefan Gräf, Katrin Hinderhofer, Marc Humbert, Steven B. Keiles, James E. Loyd, Nicholas W. Morrell, John H. Newman, Florent Soubrier, Richard C. Trembath, Rebecca Rodríguez Viales and Ekkehard Grünig

    Article first published online : 12 OCT 2015, DOI: 10.1002/humu.22904

  6. Spectrum of the Mutations in Bernard–Soulier Syndrome

    Human Mutation

    Volume 35, Issue 9, September 2014, Pages: 1033–1045, Anna Savoia, Shinji Kunishima, Daniela De Rocco, Barbara Zieger, Margaret L. Rand, Nuria Pujol-Moix, Umran Caliskan, Huseyin Tokgoz, Alessandro Pecci, Patrizia Noris, Alok Srivastava, Christopher Ward, Marie-Christine Morel-Kopp, Marie-Christine Alessi, Sylvia Bellucci, Philippe Beurrier, Emmanuel de Maistre, Rémi Favier, Nathalie Hézard, Marie-Françoise Hurtaud-Roux, Véronique Latger-Cannard, Cécile Lavenu-Bombled, Valérie Proulle, Sandrine Meunier, Claude Négrier, Alan Nurden, Hanitra Randrianaivo, Fabrizio Fabris, Helen Platokouki, Nurit Rosenberg, Basma HadjKacem, Paula G. Heller, Mehran Karimi, Carlo L. Balduini, Annalisa Pastore and Francois Lanza

    Article first published online : 15 JUL 2014, DOI: 10.1002/humu.22607

  7. You have full text access to this OnlineOpen article
    Comparative Analysis and Functional Mapping of SACS Mutations Reveal Novel Insights into Sacsin Repeated Architecture

    Human Mutation

    Volume 34, Issue 3, March 2013, Pages: 525–537, Alessandro Romano, Alessandra Tessa, Amilcare Barca, Fabiana Fattori, Maria Fulvia de Leva, Alessandra Terracciano, Carlo Storelli, Filippo Maria Santorelli and Tiziano Verri

    Article first published online : 18 FEB 2013, DOI: 10.1002/humu.22269

  8. You have free access to this content
    Biochemical and Cellular Analysis of Human Variants of the DYT1 Dystonia Protein, TorsinA/TOR1A

    Human Mutation

    Volume 35, Issue 9, September 2014, Pages: 1101–1113, Jasmin Hettich, Scott D. Ryan, Osmar Norberto de Souza, Luís Fernando Saraiva Macedo Timmers, Shelun Tsai, Nadia A. Atai, Cintia C. da Hora, Xuan Zhang, Rashmi Kothary, Erik Snapp, Maria Ericsson, Kathrin Grundmann, Xandra O. Breakefield and Flávia C. Nery

    Article first published online : 17 JUL 2014, DOI: 10.1002/humu.22602

  9. CDKN2A Unclassified Variants in Familial Malignant Melanoma: Combining Functional and Computational Approaches for Their Assessment

    Human Mutation

    Volume 35, Issue 7, July 2014, Pages: 828–840, Maria Chiara Scaini, Giovanni Minervini, Lisa Elefanti, Paola Ghiorzo, Lorenza Pastorino, Silvia Tognazzo, Simona Agata, Monica Quaggio, Daniela Zullato, Giovanna Bianchi-Scarrà, Marco Montagna, Emma D'Andrea, Chiara Menin and Silvio C.E. Tosatto

    Article first published online : 21 MAY 2014, DOI: 10.1002/humu.22550

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    TP53 Mutants in the Tower of Babel of Cancer Progression

    Human Mutation

    Volume 35, Issue 6, June 2014, Pages: 689–701, Alessandra Bisio, Yari Ciribilli, Gilberto Fronza, Alberto Inga and Paola Monti

    Article first published online : 14 MAR 2014, DOI: 10.1002/humu.22514

  11. Analysis of Crossover Breakpoints Yields New Insights into the Nature of the Gene Conversion Events Associated with Large NF1 Deletions Mediated by Nonallelic Homologous Recombination

    Human Mutation

    Volume 35, Issue 2, February 2014, Pages: 215–226, Kathrin Bengesser, Julia Vogt, Tanja Mussotter, Victor-Felix Mautner, Ludwine Messiaen, David N. Cooper and Hildegard Kehrer-Sawatzki

    Article first published online : 2 DEC 2013, DOI: 10.1002/humu.22473

  12. Long-Standing Balancing Selection in the THBS4 Gene: Influence on Sex-Specific Brain Expression and Gray Matter Volumes in Alzheimer Disease

    Human Mutation

    Volume 34, Issue 5, May 2013, Pages: 743–753, Rachele Cagliani, Franca R. Guerini, Raquel Rubio-Acero, Francesca Baglio, Diego Forni, Cristina Agliardi, Ludovica Griffanti, Matteo Fumagalli, Uberto Pozzoli, Stefania Riva, Elena Calabrese, Martin Sikora, Ferran Casals, Giacomo P. Comi, Nereo Bresolin, Mario Cáceres, Mario Clerici and Manuela Sironi

    Article first published online : 2 APR 2013, DOI: 10.1002/humu.22301

  13. Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases

    Human Mutation

    Volume 35, Issue 1, January 2014, Pages: 15–26, Celeste Bento, Melanie J. Percy, Betty Gardie, Tabita Magalhães Maia, Richard van Wijk, Silverio Perrotta, Fulvio Della Ragione, Helena Almeida, Cedric Rossi, François Girodon, Maria Åström, Drorit Neumann, Susanne Schnittger, Britta Landin, Milen Minkov, Maria Luigia Randi, Stéphane Richard, Nicole Casadevall, William Vainchenker, Susana Rives, Sylvie Hermouet, M. Leticia Ribeiro, Mary Frances McMullin, Holger Cario, on behalf of ECE-Consortium, Aurelie Chauveau, Anne-Paule Gimenez-Roqueplo, Brigitte Bressac-de-Paillerets, Didem Altindirek, Felipe Lorenzo, Frederic Lambert, Harlev Dan, Sophie Gad-Lapiteau, Ana Catarina Oliveira, Cédric Rossi, Cristina Fraga, Gennadiy Taradin, Guillermo Martin-Nuñez, Helena Vitória, Herrera Diaz Aguado, Jan Palmblad, Julia Vidán, Luis Relvas, Maria Leticia Ribeiro, Maria Luigi Larocca, Maria Luigia Randi, Maria Pedro Silveira, Melanie Percy, Mor Gross, Ricardo Marques da Costa, Soheir Beshara, Tal Ben-Ami and Valérie Ugo

    Article first published online : 22 OCT 2013, DOI: 10.1002/humu.22448

  14. Transduction-Specific ATLAS Reveals a Cohort of Highly Active L1 Retrotransposons in Human Populations

    Human Mutation

    Volume 34, Issue 7, July 2013, Pages: 974–985, Catriona M. Macfarlane, Pamela Collier, Raheleh Rahbari, Christine R. Beck, John F. Wagstaff, Samantha Igoe, John V. Moran and Richard M. Badge

    Article first published online : 23 APR 2013, DOI: 10.1002/humu.22327

  15. Novel Mutations Including Deletions of the Entire OFD1 Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 237–247, Izak J. Bisschoff, Christine Zeschnigk, Denise Horn, Brigitte Wellek, Angelika Rieß, Maja Wessels, Patrick Willems, Peter Jensen, Andreas Busche, Jens Bekkebraten, Maya Chopra, Hanne Dahlgaard Hove, Christina Evers, Ketil Heimdal, Ann-Sophie Kaiser, Erdmut Kunstmann, Kristina Lagerstedt Robinson, Maja Linné, Patricia Martin, James McGrath, Winnie Pradel, Katrina E. Prescott, Bernd Roesler, Gorazd Rudolf, Ulrike Siebers-Renelt, Nataliya Tyshchenko, Dagmar Wieczorek, Gerhard Wolff, William B. Dobyns and Deborah J. Morris-Rosendahl

    Article first published online : 17 OCT 2012, DOI: 10.1002/humu.22224

  16. 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

  17. Mutations in the Genes Encoding the Transcription Factors Hepatocyte Nuclear Factor 1 Alpha and 4 Alpha in Maturity-Onset Diabetes of the Young and Hyperinsulinemic Hypoglycemia

    Human Mutation

    Volume 34, Issue 5, May 2013, Pages: 669–685, Kevin Colclough, Christine Bellanne-Chantelot, Cecile Saint-Martin, Sarah E. Flanagan and Sian Ellard

    Article first published online : 2 APR 2013, DOI: 10.1002/humu.22279

  18. You have full text access to this OnlineOpen article
    High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

    Human Mutation

    Volume 36, Issue 11, November 2015, Pages: 1052–1063, Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes, Angela Sharp, Tom Callens, Yunjia Chen, Ying Liu, Meagan Cochran, Mary-Alice Abbott, Joan Atkin, Dusica Babovic-Vuksanovic, Christopher P. Barnett, Melissa Crenshaw, Dennis W. Bartholomew, Lina Basel, Gary Bellus, Shay Ben-Shachar, Martin G. Bialer, David Bick, Bruce Blumberg, Fanny Cortes, Karen L. David, Anne Destree, Anna Duat-Rodriguez, Dawn Earl, Luis Escobar, Marthanda Eswara, Begona Ezquieta, Ian M. Frayling, Moshe Frydman, Kathy Gardner, Karen W. Gripp, Concepcion Hernández-Chico, Kurt Heyrman, Jennifer Ibrahim, Sandra Janssens, Beth A Keena, Isabel Llano-Rivas, Kathy Leppig, Marie McDonald, Vinod K. Misra, Jennifer Mulbury, Vinodh Narayanan, Naama Orenstein, Patricia Galvin-Parton, Helio Pedro, Eniko K. Pivnick, Cynthia M. Powell, Linda Randolph, Salmo Raskin, Jordi Rosell, Karol Rubin, Margretta Seashore, Christian P. Schaaf, Angela Scheuerle, Meredith Schultz, Elizabeth Schorry, Rhonda Schnur, Elizabeth Siqveland, Amanda Tkachuk, James Tonsgard, Meena Upadhyaya, Ishwar C. Verma, Stephanie Wallace, Charles Williams, Elaine Zackai, Jonathan Zonana, Conxi Lazaro, Kathleen Claes, Bruce Korf, Yolanda Martin, Eric Legius and Ludwine Messiaen

    Article first published online : 21 AUG 2015, DOI: 10.1002/humu.22832

  19. Genetics and Pathogenesis of Autosomal Dominant Polycystic Kidney Disease: 20 Years On

    Human Mutation

    Volume 35, Issue 12, December 2014, Pages: 1393–1406, Emilie Cornec-Le Gall, Marie-Pierre Audrézet, Yannick Le Meur, Jian-Min Chen and Claude Férec

    Article first published online : 24 NOV 2014, DOI: 10.1002/humu.22708

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    The Mdm Network and Its Regulation of p53 Activities: A Rheostat of Cancer Risk

    Human Mutation

    Volume 35, Issue 6, June 2014, Pages: 728–737, Christine M. Eischen and Guillermina Lozano

    Article first published online : 6 MAR 2014, DOI: 10.1002/humu.22524