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There are 7987 results for: content related to: RP1L1 Variants are Associated with a Spectrum of Inherited Retinal Diseases Including Retinitis Pigmentosa and Occult Macular Dystrophy

  1. You have free access to this content
    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

  2. 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

  3. Mutations in the C-Terminal Domain of ColQ in Endplate Acetylcholinesterase Deficiency Compromise ColQ–MuSK Interaction

    Human Mutation

    Volume 34, Issue 7, July 2013, Pages: 997–1004, Tomohiko Nakata, Mikako Ito, Yoshiteru Azuma, Kenji Otsuka, Yoichiro Noguchi, Hirofumi Komaki, Akihisa Okumura, Kazuhiro Shiraishi, Akio Masuda, Jun Natsume, Seiji Kojima and Kinji Ohno

    Article first published online : 19 APR 2013, DOI: 10.1002/humu.22325

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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

  5. Genetic and Epigenetic Characteristics of FSHD-Associated 4q and 10q D4Z4 that are Distinct from Non-4q/10q D4Z4 Homologs

    Human Mutation

    Weihua Zeng, Yen-Yun Chen, Daniel A. Newkirk, Beibei Wu, Judit Balog, Xiangduo Kong, Alexander R. Ball Jr., Simona Zanotti, Rabi Tawil, Naohiro Hashimoto, Ali Mortazavi, Silvère M. van der Maarel and Kyoko Yokomori

    Article first published online : 24 JUN 2014, DOI: 10.1002/humu.22593

  6. Chimeric Negative Regulation of p14ARF and TBX1 by a t(9;22) Translocation Associated with Melanoma, Deafness, and DNA Repair Deficiency

    Human Mutation

    Volume 34, Issue 9, September 2013, Pages: 1250–1259, Xiaohui Tan, Sarah L. Anzick, Sikandar G. Khan, Takahiro Ueda, Gary Stone, John J. DiGiovanna, Deborah Tamura, Daniel Wattendorf, David Busch, Carmen C. Brewer, Christopher Zalewski, John A. Butman, Andrew J. Griffith, Paul S. Meltzer and Kenneth H. Kraemer

    Article first published online : 3 JUN 2013, DOI: 10.1002/humu.22354

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    Mutations and Polymorphisms in the Human Argininosuccinate Lyase (ASL) Gene

    Human Mutation

    Volume 35, Issue 1, January 2014, Pages: 27–35, Cécile Balmer, Amit V. Pandey, Véronique Rüfenacht, Jean-Marc Nuoffer, Ping Fang, Lee-Jun Wong and Johannes Häberle

    Article first published online : 25 NOV 2013, DOI: 10.1002/humu.22469

  8. 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

  9. The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia

    Human Mutation

    Volume 34, Issue 11, November 2013, Pages: 1449–1457, Catherine L. Bladen, Karen Rafferty, Volker Straub, Soledad Monges, Angélica Moresco, Hugh Dawkins, Anna Roy, Teodora Chamova, Velina Guergueltcheva, Lawrence Korngut, Craig Campbell, Yi Dai, Nina Barišić, Tea Kos, Petr Brabec, Jes Rahbek, Jaana Lahdetie, Sylvie Tuffery-Giraud, Mireille Claustres, France Leturcq, Rabah Ben Yaou, Maggie C. Walter, Olivia Schreiber, Veronika Karcagi, Agnes Herczegfalvi, Venkatarman Viswanathan, Farhad Bayat, Isis de la caridad Guerrero Sarmiento, Anna Ambrosini, Francesca Ceradini, En Kimura, Janneke C. van den Bergen, Miriam Rodrigues, Richard Roxburgh, Anna Lusakowska, Jorge Oliveira, Rosário Santos, Elena Neagu, Niculina Butoianu, Svetlana Artemieva, Vedrana Milic Rasic, Manuel Posada, Francesc Palau, Björn Lindvall, Clemens Bloetzer, Ayşe Karaduman, Haluk Topaloğlu, Serap Inal, Piraye Oflazer, Angela Stringer, Andriy V. Shatillo, Ann S. Martin, Holly Peay, Kevin M. Flanigan, David Salgado, Brigitta von Rekowski, Stephen Lynn, Emma Heslop, Sabina Gainotti, Domenica Taruscio, Jan Kirschner, Jan Verschuuren, Kate Bushby, Christophe Béroud and Hanns Lochmüller

    Article first published online : 26 AUG 2013, DOI: 10.1002/humu.22390

  10. RyR1 Deficiency in Congenital Myopathies Disrupts Excitation–Contraction Coupling

    Human Mutation

    Volume 34, Issue 7, July 2013, Pages: 986–996, Haiyan Zhou, Ori Rokach, Lucy Feng, Iulia Munteanu, Kamel Mamchaoui, Jo M. Wilmshurst, Caroline Sewry, Adnan Y. Manzur, Komala Pillay, Vincent Mouly, Michael Duchen, Heinz Jungbluth, Susan Treves and Francesco Muntoni

    Article first published online : 17 APR 2013, DOI: 10.1002/humu.22326

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    UBE2QL1 is Disrupted by a Constitutional Translocation Associated with Renal Tumor Predisposition and is a Novel Candidate Renal Tumor Suppressor Gene

    Human Mutation

    Volume 34, Issue 12, December 2013, Pages: 1650–1661, Naomi C. Wake, Christopher J. Ricketts, Mark R. Morris, Elena Prigmore, Susan M. Gribble, Anne-Bine Skytte, Michael Brown, Noel Clarke, Rosamonde E. Banks, Shirley Hodgson, Andrew S. Turnell, Eamonn R. Maher and Emma R. Woodward

    Article first published online : 7 OCT 2013, DOI: 10.1002/humu.22433

  12. 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

  13. Novel CLCNKB Mutations Causing Bartter Syndrome Affect Channel Surface Expression

    Human Mutation

    Volume 34, Issue 9, September 2013, Pages: 1269–1278, Mathilde Keck, Olga Andrini, Olivier Lahuna, Johanna Burgos, L. Pablo Cid, Francisco V. Sepúlveda, Sébastien L‘Hoste, Anne Blanchard, Rosa Vargas-Poussou, Stéphane Lourdel and Jacques Teulon

    Article first published online : 12 JUN 2013, DOI: 10.1002/humu.22361

  14. 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

  15. Prediction of the Repeat Domain Structures and Impact of Parkinsonism-Associated Variations on Structure and Function of all Functional Domains of Leucine-Rich Repeat Kinase 2 (LRRK2)

    Human Mutation

    Volume 35, Issue 4, April 2014, Pages: 395–412, Ryan D. Mills, Terrence D. Mulhern, Fei Liu, Janetta G. Culvenor and Heung-Chin Cheng

    Article first published online : 24 FEB 2014, DOI: 10.1002/humu.22515

  16. GATA4 Loss-of-Function Mutations Underlie Familial Tetralogy of Fallot

    Human Mutation

    Volume 34, Issue 12, December 2013, Pages: 1662–1671, Yi-Qing Yang, Lara Gharibeh, Ruo-Gu Li, Yuan-Feng Xin, Juan Wang, Zhong-Min Liu, Xing-Biao Qiu, Ying-Jia Xu, Lei Xu, Xin-Kai Qu, Xu Liu, Wei-Yi Fang, Ri-Tai Huang, Song Xue and Georges Nemer

    Article first published online : 17 SEP 2013, DOI: 10.1002/humu.22434

  17. In Vitro Correction of a Pseudoexon-Generating Deep Intronic Mutation in LGMD2A by Antisense Oligonucleotides and Modified Small Nuclear RNAs

    Human Mutation

    Volume 34, Issue 10, October 2013, Pages: 1387–1395, Lorea Blázquez, Ana Aiastui, Maria Goicoechea, Mafalda Martins de Araujo, Aurélie Avril, Cyriaque Beley, Luis García, Juan Valcárcel, Puri Fortes and Adolfo López de Munain

    Article first published online : 7 AUG 2013, DOI: 10.1002/humu.22379

  18. 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

  19. 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

  20. The UBIAD1 Prenyltransferase Links Menaquione-4 Synthesis to Cholesterol Metabolic Enzymes

    Human Mutation

    Volume 34, Issue 2, February 2013, Pages: 317–329, Michael L. Nickerson, Allen D. Bosley, Jayne S. Weiss, Brittany N. Kostiha, Yoshihisa Hirota, Wolfgang Brandt, Dominic Esposito, Shigeru Kinoshita, Ludger Wessjohann, Scott G. Morham, Thorkell Andresson, Howard S. Kruth, Toshio Okano and Michael Dean

    Article first published online : 27 NOV 2012, DOI: 10.1002/humu.22230

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    Erratum: The UBIAD1 Prenyltransferase Links Menaquinone-4 Synthesis to Cholesterol Metabolic Enzymes

    Vol. 34, Issue 7, 1046, Article first published online: 30 APR 2013