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There are 1037 results for: content related to: Pseudohypoparathyroidism Type I a and Pseudo-Pseudohypoparathyroidism: The Growing Spectrum of GNAS Inactivating Mutations

  1. Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1

    Human Mutation

    Lamisse Mansour-Hendili, Anne Blanchard, Nelly Le Pottier, Isabelle Roncelin, Stéphane Lourdel, Cyrielle Treard, Wendy González, Ariela Vergara-Jaque, Gilles Morin, Estelle Colin, Muriel Holder-Espinasse, Justine Bacchetta, Véronique Baudouin, Stéphane Benoit, Etienne Bérard, Guylhène Bourdat-Michel, Karim Bouchireb, Stéphane Burtey, Mathilde Cailliez, Gérard Cardon, Claire Cartery, Gerard Champion, Dominique Chauveau, Pierre Cochat, Karin Dahan, Renaud De la Faille, François-Guillaume Debray, Laurenne Dehoux, Georges Deschenes, Estelle Desport, Olivier Devuyst, Stella Dieguez, Francesco Emma, Michel Fischbach, Denis Fouque, Jacques Fourcade, Hélène François, Brigitte Gilbert-Dussardier, Thierry Hannedouche, Pascal Houillier, Hassan Izzedine, Marco Janner, Alexandre Karras, Bertrand Knebelmann, Marie-Pierre Lavocat, Sandrine Lemoine, Valérie Leroy, Chantal Loirat, Marie-Alice Macher, Dominique Martin-Coignard, Denis Morin, Patrick Niaudet, Hubert Nivet, François Nobili, Robert Novo, Laurence Faivre, Claire Rigothier, Gwenaëlle Roussey-Kesler, Remi Salomon, Andreas Schleich, Anne-Laure Sellier-Leclerc, Kenza Soulami, Aurélien Tiple, Tim Ulinski, Philippe Vanhille, Nicole Van Regemorter, Xavier Jeunemaître and Rosa Vargas-Poussou

    Article first published online : 11 JUN 2015, DOI: 10.1002/humu.22804

  2. On Human Disease-Causing Amino Acid Variants: Statistical Study of Sequence and Structural Patterns

    Human Mutation

    Volume 36, Issue 5, May 2015, Pages: 524–534, Marharyta Petukh, Tugba G. Kucukkal and Emil Alexov

    Article first published online : 6 APR 2015, DOI: 10.1002/humu.22770

  3. Structural and Functional Impact of Parkinson Disease-Associated Mutations in the E3 Ubiquitin Ligase Parkin

    Human Mutation

    Fabienne C. Fiesel, Thomas R. Caulfield, Elisabeth L. Moussaud-Lamodière, Kotaro Ogaki, Daniel F.A.R. Dourado, Samuel C. Flores, Owen A. Ross and Wolfdieter Springer

    Article first published online : 3 JUN 2015, DOI: 10.1002/humu.22808

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    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

  5. Alström Syndrome: Mutation Spectrum of ALMS1

    Human Mutation

    Volume 36, Issue 7, July 2015, Pages: 660–668, Jan D. Marshall, Jean Muller, Gayle B. Collin, Gabriella Milan, Stephen F. Kingsmore, Darrell Dinwiddie, Emily G. Farrow, Neil A. Miller, Francesca Favaretto, Pietro Maffei, Hélène Dollfus, Roberto Vettor and Jürgen K. Naggert

    Article first published online : 18 MAY 2015, DOI: 10.1002/humu.22796

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    Recommendations for Analyzing and Reporting TP53 Gene Variants in the High-Throughput Sequencing Era

    Human Mutation

    Volume 35, Issue 6, June 2014, Pages: 766–778, Thierry Soussi, Bernard Leroy and Peter E.M. Taschner

    Article first published online : 6 MAY 2014, DOI: 10.1002/humu.22561

  7. 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

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    Altered GPM6A/M6 Dosage Impairs Cognition and Causes Phenotypes Responsive to Cholesterol in Human and Drosophila

    Human Mutation

    Volume 35, Issue 12, December 2014, Pages: 1495–1505, Anne Gregor, Jamie M. Kramer, Monique van der Voet, Ina Schanze, Steffen Uebe, Rogier Donders, André Reis, Annette Schenck and Christiane Zweier

    Article first published online : 24 NOV 2014, DOI: 10.1002/humu.22697

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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

  10. An Overview and Online Registry of Microvillus Inclusion Disease Patients and their MYO5B Mutations

    Human Mutation

    Volume 34, Issue 12, December 2013, Pages: 1597–1605, K. Joeri van der Velde, Herschel S. Dhekne, Morris A. Swertz, Serena Sirigu, Virginie Ropars, Petra C. Vinke, Trebor Rengaw, Peter C. van den Akker, Edmond H. H. M. Rings, Anne Houdusse and Sven C. D. van Ijzendoorn

    Article first published online : 16 OCT 2013, DOI: 10.1002/humu.22440

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    Integrating Massively Parallel Sequencing into Diagnostic Workflows and Managing the Annotation and Clinical Interpretation Challenge

    Human Mutation

    Volume 35, Issue 4, April 2014, Pages: 413–423, Karin S. Kassahn, Hamish S. Scott and Melody C. Caramins

    Article first published online : 6 MAR 2014, DOI: 10.1002/humu.22525

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    Insights into Wild-Type and Mutant p53 Functions Provided by Genetically Engineered Mice

    Human Mutation

    Volume 35, Issue 6, June 2014, Pages: 715–727, Lawrence A. Donehower

    Article first published online : 5 FEB 2014, DOI: 10.1002/humu.22507

  13. 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

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    Online Biomedical Resources for Malaria-Related Red Cell Disorders

    Human Mutation

    Volume 34, Issue 7, July 2013, Pages: 937–944, Frédéric B. Piel, Rosalind E. Howes, Oscar A. Nyangiri, Catherine L. Moyes, Thomas N. Williams, David J. Weatherall and Simon I. Hay

    Article first published online : 8 MAY 2013, DOI: 10.1002/humu.22330

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    Locus-Specific Databases in Cancer: What Future in a Post-Genomic Era? The TP53 LSDB paradigm

    Human Mutation

    Volume 35, Issue 6, June 2014, Pages: 643–653, Thierry Soussi

    Article first published online : 5 MAR 2014, DOI: 10.1002/humu.22518

  16. 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

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    Patterns and Mutational Signatures of Tandem Base Substitutions Causing Human Inherited Disease

    Human Mutation

    Volume 34, Issue 8, August 2013, Pages: 1119–1130, Jian-Min Chen, Claude Férec and David N. Cooper

    Article first published online : 20 MAY 2013, DOI: 10.1002/humu.22341

  18. 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

  19. A Multifactorial Likelihood Model for MMR Gene Variant Classification Incorporating Probabilities Based on Sequence Bioinformatics and Tumor Characteristics: A Report from the Colon Cancer Family Registry

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 200–209, Bryony A. Thompson, David E. Goldgar, Carol Paterson, Mark Clendenning, Rhiannon Walters, Sven Arnold, Michael T. Parsons, Walsh Michael D., Steven Gallinger, Robert W. Haile, John L. Hopper, Mark A. Jenkins, Loic LeMarchand, Noralane M. Lindor, Polly A. Newcomb, Stephen N. Thibodeau, Colon Cancer Family Registry, Joanne P. Young, Daniel D. Buchanan, Sean V. Tavtigian and Amanda B. Spurdle

    Article first published online : 11 OCT 2012, DOI: 10.1002/humu.22213

  20. 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