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There are 1055 results for: content related to: dbHCCvar: A comprehensive database of human genetic variations in hepatocellular carcinoma

  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. 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. 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

  4. 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

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

    Human Mutation

    Volume 35, Issue 8, August 2014, Pages: 998–1010, 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. Functional consequences and structural interpretation of mutations of human choline acetyltransferase

    Human Mutation

    Volume 32, Issue 11, November 2011, Pages: 1259–1267, Xin-Ming Shen, Thomas O. Crawford, Joan Brengman, Gyula Acsadi, Susan Iannaconne, Emin Karaca, Chaouky Khoury, Jean K. Mah, Shimon Edvardson, Zeljko Bajzer, David Rodgers and Andrew G. Engel

    Article first published online : 23 SEP 2011, DOI: 10.1002/humu.21560

  7. 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

  8. You have free access to this content
    The CDC Hemophilia A Mutation Project (CHAMP) Mutation List: A New Online Resource

    Human Mutation

    Volume 34, Issue 2, February 2013, Pages: E2382–E2392, Amanda B. Payne, Connie H. Miller, Fiona M. Kelly, J. Michael Soucie and W. Craig Hooper

    Article first published online : 26 DEC 2012, DOI: 10.1002/humu.22247

  9. 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

  10. You have free access to this content
    Static respiratory cilia associated with mutations in Dnahc11/DNAH11: A mouse model of PCD

    Human Mutation

    Volume 33, Issue 3, March 2012, Pages: 495–503, Jane S. Lucas, Elizabeth C. Adam, Patricia M. Goggin, Claire L. Jackson, Nicola Powles-Glover, Saloni H Patel, James Humphreys, Martin D. Fray, Emilie Falconnet, Jean-Louis Blouin, Michael T. Cheeseman, Lucia Bartoloni, Dominic P. Norris and Peter M. Lackie

    Article first published online : 29 DEC 2011, DOI: 10.1002/humu.22001

  11. Somatic Expansion in Mouse and Human Carriers of Fragile X Premutation Alleles

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 157–166, Rachel Adihe Lokanga, Ali Entezam, Daman Kumari, Dmitry Yudkin, Mei Qin, Carolyn Beebe Smith and Karen Usdin

    Article first published online : 4 OCT 2012, DOI: 10.1002/humu.22177

  12. ECHS1 Mutations Cause Combined Respiratory Chain Deficiency Resulting in Leigh Syndrome

    Human Mutation

    Volume 36, Issue 2, February 2015, Pages: 232–239, Chika Sakai, Seiji Yamaguchi, Masayuki Sasaki, Yusaku Miyamoto, Yuichi Matsushima and Yu-ichi Goto

    Article first published online : 4 FEB 2015, DOI: 10.1002/humu.22730

  13. 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

  14. Preliminary Functional Assessment and Classification of DEPDC5 Variants Associated with Focal Epilepsy

    Human Mutation

    Volume 36, Issue 2, February 2015, Pages: 200–209, Melissa van Kranenburg, Marianne Hoogeveen-Westerveld and Mark Nellist

    Article first published online : 27 NOV 2014, DOI: 10.1002/humu.22723

  15. Genetic Heterogeneity and Clinical Variability in Musculocontractural Ehlers–Danlos Syndrome Caused by Impaired Dermatan Sulfate Biosynthesis

    Human Mutation

    Volume 36, Issue 5, May 2015, Pages: 535–547, Delfien Syx, Tim Van Damme, Sofie Symoens, Merel C. Maiburg, Ingrid van de Laar, Jenny Morton, Mohnish Suri, Miguel Del Campo, Ingrid Hausser, Trinh Hermanns-Lê, Anne De Paepe and Fransiska Malfait

    Article first published online : 6 APR 2015, DOI: 10.1002/humu.22774

  16. VariSNP, A Benchmark Database for Variations From dbSNP

    Human Mutation

    Volume 36, Issue 2, February 2015, Pages: 161–166, Gerard C.P. Schaafsma and Mauno Vihinen

    Article first published online : 8 JAN 2015, DOI: 10.1002/humu.22727

  17. 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

  18. Correlating disease-related mutations to their effect on protein stability: A large-scale analysis of the human proteome

    Human Mutation

    Volume 32, Issue 10, October 2011, Pages: 1161–1170, Rita Casadio, Marco Vassura, Shalinee Tiwari, Piero Fariselli and Pier Luigi Martelli

    Article first published online : 7 SEP 2011, DOI: 10.1002/humu.21555

  19. You have free access to this content
    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

  20. You have free access to this content
    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