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There are 10594 results for: content related to: Autosomal Recessive Spinocerebellar Ataxia 7 ( SCAR 7) is Caused by Variants in TPP1 , The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease ( CLN 2 Disease)

  1. You have free access to this content
    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

  2. 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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    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

  4. NF1 Molecular Characterization and Neurofibromatosis Type I Genotype–Phenotype Correlation: The French Experience

    Human Mutation

    Volume 34, Issue 11, November 2013, Pages: 1510–1518, Audrey Sabbagh, Eric Pasmant, Apolline Imbard, Armelle Luscan, Magali Soares, Hélène Blanché, Ingrid Laurendeau, Salah Ferkal, Michel Vidaud, Stéphane Pinson, Christine Bellanné-Chantelot, Dominique Vidaud, the members of the NF France Network, Béatrice Parfait and Pierre Wolkenstein

    Article first published online : 26 AUG 2013, DOI: 10.1002/humu.22392

  5. 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

  6. MYH9-Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype–Phenotype Correlations

    Human Mutation

    Volume 35, Issue 2, February 2014, Pages: 236–247, Alessandro Pecci, Catherine Klersy, Paolo Gresele, Kieran J.D. Lee, Daniela De Rocco, Valeria Bozzi, Giovanna Russo, Paula G. Heller, Giuseppe Loffredo, Matthias Ballmaier, Fabrizio Fabris, Eloise Beggiato, Walter H.A. Kahr, Nuria Pujol-Moix, Helen Platokouki, Christel Van Geet, Patrizia Noris, Preethi Yerram, Cedric Hermans, Bernhard Gerber, Marina Economou, Marco De Groot, Barbara Zieger, Erica De Candia, Vincenzo Fraticelli, Rogier Kersseboom, Giorgina B. Piccoli, Stefanie Zimmermann, Tiziana Fierro, Ana C. Glembotsky, Fabrizio Vianello, Carlo Zaninetti, Elena Nicchia, Christiane Güthner, Carlo Baronci, Marco Seri, Peter J. Knight, Carlo L. Balduini and Anna Savoia

    Article first published online : 12 DEC 2013, DOI: 10.1002/humu.22476

  7. You have full text access to this OnlineOpen article
    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

  8. Making Sense of Intratumor Genetic Heterogeneity: Altered Frequency of Androgen Receptor CAG Repeat Length Variants in Breast Cancer Tissues

    Human Mutation

    Volume 34, Issue 4, April 2013, Pages: 610–618, Bruce Gottlieb, Carlos Alvarado, Chunlin Wang, Baback Gharizadeh, Farbod Babrzadeh, Brent Richards, Gerald Batist, Mark Basik, Lenore K. Beitel and Mark Trifiro

    Article first published online : 8 MAR 2013, DOI: 10.1002/humu.22287

  9. 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

  10. Identification of Pathogenic Mechanisms of COCH Mutations, Abolished Cochlin Secretion, and Intracellular Aggregate Formation: Genotype–Phenotype Correlations in DFNA9 Deafness and Vestibular Disorder

    Human Mutation

    Volume 35, Issue 12, December 2014, Pages: 1506–1513, Seung-Hyun Bae, Nahid G. Robertson, Hyun-Ju Cho, Cynthia C. Morton, Da Jung Jung, Jeong-In Baek, Soo-Young Choi, Jaetae Lee, Kyu-Yup Lee and Un-Kyung Kim

    Article first published online : 24 NOV 2014, DOI: 10.1002/humu.22701

  11. High-Resolution Breakpoint Analysis Provides Evidence for the Sequence-Directed Nature of Genome Rearrangements in Hereditary Disorders

    Human Mutation

    Volume 36, Issue 2, February 2015, Pages: 250–259, Michal B. Kovac, Monika Kovacova, Hynek Bachraty, Katarina Bachrata, Salvatore Piscuoglio, Pierre Hutter, Denisa Ilencikova, Zdena Bartosova, Ian Tomlinson, Benno Roethlisberger and Karl Heinimann

    Article first published online : 4 FEB 2015, DOI: 10.1002/humu.22734

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    Identification and Characterization of Aberrant GAA Pre-mRNA Splicing in Pompe Disease Using a Generic Approach

    Human Mutation

    Volume 36, Issue 1, January 2015, Pages: 57–68, Atze J. Bergsma, Marian Kroos, Marianne Hoogeveen-Westerveld, Dicky Halley, Ans T. van der Ploeg and W. W. Pijnappel

    Article first published online : 1 DEC 2014, DOI: 10.1002/humu.22705

  13. Recessive Inheritance of Population-Specific Intronic LINE-1 Insertion Causes a Rotor Syndrome Phenotype

    Human Mutation

    Volume 36, Issue 3, March 2015, Pages: 327–332, Tatehiro Kagawa, Akira Oka, Yoshinao Kobayashi, Yoichi Hiasa, Tsuneo Kitamura, Hiroshi Sakugawa, Yukihiko Adachi, Kazuya Anzai, Kota Tsuruya, Yoshitaka Arase, Shunji Hirose, Koichi Shiraishi, Takashi Shiina, Tadayuki Sato, Ting Wang, Masayuki Tanaka, Hideki Hayashi, Noboru Kawabe, Peter N. Robinson, Tomasz Zemojtel and Tetsuya Mine

    Article first published online : 13 MAR 2015, DOI: 10.1002/humu.22745

  14. Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies

    Human Mutation

    Volume 35, Issue 12, December 2014, Pages: 1418–1426, Vilma-Lotta Lehtokari, Kirsi Kiiski, Sarah A. Sandaradura, Jocelyn Laporte, Pauliina Repo, Jennifer A. Frey, Kati Donner, Minttu Marttila, Carol Saunders, Peter G. Barth, Johan T. den Dunnen, Alan H. Beggs, Nigel F. Clarke, Kathryn N. North, Nigel G. Laing, Norma B. Romero, Thomas L. Winder, Katarina Pelin and Carina Wallgren-Pettersson

    Article first published online : 24 NOV 2014, DOI: 10.1002/humu.22693

  15. 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

  16. 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

  17. Mutations in CCDC11, which Encodes a Coiled-Coil Containing Ciliary Protein, Causes Situs Inversus Due to Dysmotility of Monocilia in the Left–Right Organizer

    Human Mutation

    Volume 36, Issue 3, March 2015, Pages: 307–318, Vijayashankaranarayanan Narasimhan, Rim Hjeij, Shubha Vij, Niki Tomas Loges, Julia Wallmeier, Cordula Koerner-Rettberg, Claudius Werner, Surin Kumar Thamilselvam, Adrian Boey, Semil P. Choksi, Petra Pennekamp, Sudipto Roy and Heymut Omran

    Article first published online : 13 MAR 2015, DOI: 10.1002/humu.22738

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    De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

    Human Mutation

    Volume 36, Issue 1, January 2015, Pages: 69–78, Jae-Ran Lee, Myriam Srour, Doyoun Kim, Fadi. F. Hamdan, So-Hee Lim, Catherine Brunel-Guitton, Jean-Claude Décarie, Elsa Rossignol, Grant A. Mitchell, Allison Schreiber, Rocio Moran, Keith Van Haren, Randal Richardson, Joost Nicolai, Karin M.E.J. Oberndorff, Justin D. Wagner, Kym M. Boycott, Elisa Rahikkala, Nella Junna, Henna Tyynismaa, Inge Cuppen, Nienke E. Verbeek, Connie T.R.M. Stumpel, Michel A. Willemsen, Sonja A. de Munnik, Guy A. Rouleau, Eunjoon Kim, Erik-Jan Kamsteeg, Tjitske Kleefstra and Jacques L. Michaud

    Article first published online : 27 NOV 2014, DOI: 10.1002/humu.22709

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    Identification of Novel Craniofacial Regulatory Domains Located far Upstream of SOX9 and Disrupted in Pierre Robin Sequence

    Human Mutation

    Volume 35, Issue 8, August 2014, Pages: 1011–1020, Christopher T. Gordon, Catia Attanasio, Shipra Bhatia, Sabina Benko, Morad Ansari, Tiong Y. Tan, Arnold Munnich, Len A. Pennacchio, Véronique Abadie, I. Karen Temple, Alice Goldenberg, Veronica van Heyningen, Jeanne Amiel, David FitzPatrick, Dirk A. Kleinjan, Axel Visel and Stanislas Lyonnet

    Article first published online : 17 JUL 2014, DOI: 10.1002/humu.22606

  20. 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