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There are 1911 results for: content related to: Genome-Wide Analysis of Human SNP s at Long Intergenic Noncoding RNA s

  1. Distinct Patterns of Genetic Variations in Potential Functional Elements in Long Noncoding RNAs

    Human Mutation

    Volume 35, Issue 2, February 2014, Pages: 192–201, Deeksha Bhartiya, Saakshi Jalali, Sourav Ghosh and Vinod Scaria

    Article first published online : 25 NOV 2013, DOI: 10.1002/humu.22472

  2. TP53 Mutants in the Tower of Babel of Cancer Progression

    Human Mutation

    Alessandra Bisio, Yari Ciribilli, Gilberto Fronza, Alberto Inga and Paola Monti

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

  3. 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

  4. You have full text access to this OnlineOpen article
    A Pan-European Study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats

    Human Mutation

    Volume 34, Issue 2, February 2013, Pages: 363–373, Julie van der Zee, Ilse Gijselinck, Lubina Dillen, Tim Van Langenhove, Jessie Theuns, Sebastiaan Engelborghs, Stéphanie Philtjens, Mathieu Vandenbulcke, Kristel Sleegers, Anne Sieben, Veerle Bäumer, Githa Maes, Ellen Corsmit, Barbara Borroni, Alessandro Padovani, Silvana Archetti, Robert Perneczky, Janine Diehl-Schmid, Alexandre de Mendonça, Gabriel Miltenberger-Miltenyi, Sónia Pereira, José Pimentel, Benedetta Nacmias, Silvia Bagnoli, Sandro Sorbi, Caroline Graff, Huei-Hsin Chiang, Marie Westerlund, Raquel Sanchez-Valle, Albert Llado, Ellen Gelpi, Isabel Santana, Maria Rosário Almeida, Beatriz Santiago, Giovanni Frisoni, Orazio Zanetti, Cristian Bonvicini, Matthis Synofzik, Walter Maetzler, Jennifer Müller vom Hagen, Ludger Schöls, Michael T. Heneka, Frank Jessen, Radoslav Matej, Eva Parobkova, Gabor G. Kovacs, Thomas Ströbel, Stayko Sarafov, Ivailo Tournev, Albena Jordanova, Adrian Danek, Thomas Arzberger, Gian Maria Fabrizi, Silvia Testi, Eric Salmon, Patrick Santens, Jean-Jacques Martin, Patrick Cras, Rik Vandenberghe, Peter Paul De Deyn, Marc Cruts, Christine Van Broeckhoven, Julie van der Zee, Ilse Gijselinck, Lubina Dillen, Tim Van Langenhove, Jessie Theuns, Stéphanie Philtjens, Kristel Sleegers, Veerle Bäumer, Githa Maes, Ellen Corsmit, Marc Cruts, Christine Van Broeckhoven, Julie van der Zee, Ilse Gijselinck, Lubina Dillen, Tim Van Langenhove, Stéphanie Philtjens, Jessie Theuns, Kristel Sleegers, Veerle Bäumer, Githa Maes, Marc Cruts, Christine Van Broeckhoven, Sebastiaan Engelborghs, Peter P. De Deyn, Patrick Cras, Sebastiaan Engelborghs, Peter P. De Deyn, Mathieu Vandenbulcke, Mathieu Vandenbulcke, Barbara Borroni, Alessandro Padovani, Silvana Archetti, Robert Perneczky, Janine Diehl-Schmid, Matthis Synofzik, Walter Maetzler, Jennifer Müller vom Hagen, Ludger Schöls, Matthis Synofzik, Walter Maetzler, Jennifer Müller vom Hagen, Ludger Schöls, Michael T. Heneka, Frank Jessen, Alfredo Ramirez, Delia Kurzwelly, Carmen Sachtleben, Wolfgang Mairer, Alexandre de Mendonça, Gabriel Miltenberger-Miltenyi, Sónia Pereira, Clara Firmo, José Pimentel, Raquel Sanchez-Valle, Albert Llado, Anna Antonell, Jose Molinuevo , Ellen Gelpi, Caroline Graff, Huei-Hsin Chiang, Marie Westerlund, Caroline Graff, Anne Kinhult Ståhlbom, Håkan Thonberg, Inger Nennesmo, Anne Börjesson-Hanson, Benedetta Nacmias, Silvia Bagnoli, Sandro Sorbi, Valentina Bessi, Irene Piaceri, Isabel Santana, Beatriz Santiago, Isabel Santana, Maria Helena Ribeiro, Maria Rosário Almeida, Catarina Oliveira, João Massano, Carolina Garret, Paula Pires, Giovanni Frisoni, Orazio Zanetti, Cristian Bonvicini, Stayko Sarafov, Ivailo Tournev, Albena Jordanova, Ivailo Tournev, Gabor G. Kovacs, Thomas Ströbel, Michael T. Heneka, Frank Jessen, Alfredo Ramirez, Delia Kurzwelly, Carmen Sachtleben, Wolfgang Mairer;, Frank Jessen, Radoslav Matej, Eva Parobkova, Adrian Danel, Thomas Arzberger, Gian Maria Fabrizi, Silvia Testi, Sergio Ferrari, Tiziana Cavallaro, Eric Salmon, Patrick Santens, Patrick Cras and on behalf of the European Early-Onset Dementia (EOD) Consortium

    Article first published online : 4 JAN 2013, DOI: 10.1002/humu.22244

  5. A Robust Approach for Blind Detection of Balanced Chromosomal Rearrangements with Whole-Genome Low-Coverage Sequencing

    Human Mutation

    Zirui Dong, Lupin Jiang, Chuanchun Yang, Hua Hu, Xiuhua Wang, Haixiao Chen, Kwong Wai Choy, Huamei Hu, Yanling Dong, Bin Hu, Juchun Xu, Yang Long, Sujie Cao, Hui Chen, Wen-Jing Wang, Hui Jiang, Fengping Xu, Hong Yao, Xun Xu and Zhiqing Liang

    Article first published online : 9 APR 2014, DOI: 10.1002/humu.22541

  6. Expanding the Mutational Spectrum of CRLF1 in Crisponi/CISS1 Syndrome

    Human Mutation

    Volume 35, Issue 4, April 2014, Pages: 424–433, Roberta Piras, Francesca Chiappe, Ilaria La Torraca, Insa Buers, Gianluca Usala, Andrea Angius, Mustafa Ali Akin, Lina Basel-Vanagaite, Francesco Benedicenti, Elisabetta Chiodin, Osama El Assy, Michal Feingold-Zadok, Javier Guibert, Benjamin Kamien, Çiğdem Seher Kasapkara, Esra Kılıç, Koray Boduroğlu, Selim Kurtoglu, Adnan Y Manzur, Eray Esra Onal, Enrica Paderi, Carmen Herrero Roche, Leyla Tümer, Sezin Unal, Gülen Eda Utine, Giovanni Zanda, Andreas Zankl, Giuseppe Zampino, Giangiorgio Crisponi, Laura Crisponi and Frank Rutsch

    Article first published online : 6 MAR 2014, DOI: 10.1002/humu.22522

  7. Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain

    Human Mutation

    Volume 34, Issue 6, June 2013, Pages: 801–811, Partha Sen, Yaping Yang, Colby Navarro, Iris Silva, Przemyslaw Szafranski, Katarzyna E. Kolodziejska, Avinash V. Dharmadhikari, Hasnaa Mostafa, Harry Kozakewich, Debra Kearney, John B. Cahill, Merrissa Whitt, Masha Bilic, Linda Margraf, Adrian Charles, Jack Goldblatt, Kathleen Gibson, Patrick E. Lantz, A. Julian Garvin, John Petty, Zeina Kiblawi, Craig Zuppan, Allyn McConkie-Rosell, Marie T. McDonald, Stacey L. Peterson-Carmichael, Jane T. Gaede, Binoy Shivanna, Deborah Schady, Philippe S. Friedlich, Stephen R. Hays, Irene Valenzuela Palafoll, Ulrike Siebers-Renelt, Axel Bohring, Laura S. Finn, Joseph R. Siebert, Csaba Galambos, Lananh Nguyen, Melissa Riley, Nicolas Chassaing, Adeline Vigouroux, Gustavo Rocha, Susana Fernandes, Jane Brumbaugh, Kari Roberts, Luk Ho-ming, Ivan F. M. Lo, Stephen Lam, Romana Gerychova, Marta Jezova, Iveta Valaskova, Florence Fellmann, Katayoun Afshar, Eric Giannoni, Vincent Muhlethaler, Jinlong Liang, Jacques S. Beckmann, Janet Lioy, Hitesh Deshmukh, Lakshmi Srinivasan, Daniel T. Swarr, Melissa Sloman, Charles Shaw-Smith, Rosa Laura van Loon, Cecilia Hagman, Yves Sznajer, Catherine Barrea, Christine Galant, Thierry Detaille, Jennifer A. Wambach, F. Sessions Cole, Aaron Hamvas, Lawrence S. Prince, Karin E.M. Diderich, Alice S. Brooks, Robert M. Verdijk, Hari Ravindranathan, Ella Sugo, David Mowat, Michael L. Baker, Claire Langston, Stephen Welty and Pawel Stankiewicz

    Article first published online : 12 APR 2013, DOI: 10.1002/humu.22313

  8. Calibration of Multiple In Silico Tools for Predicting Pathogenicity of Mismatch Repair Gene Missense Substitutions

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 255–265, Bryony A. Thompson, Marc S. Greenblatt, Maxime P. Vallee, Johanna C. Herkert, Chloe Tessereau, Erin L. Young, Ivan A. Adzhubey, Biao Li, Russell Bell, Bingjian Feng, Sean D. Mooney, Predrag Radivojac, Shamil R. Sunyaev, Thierry Frebourg, Robert M.W. Hofstra, Rolf H. Sijmons, Ken Boucher, Alun Thomas, David E. Goldgar, Amanda B. Spurdle and Sean V. Tavtigian

    Article first published online : 22 OCT 2012, DOI: 10.1002/humu.22214

  9. Cancer Risks for MLH1 and MSH2 Mutation Carriers

    Human Mutation

    Volume 34, Issue 3, March 2013, Pages: 490–497, James G. Dowty, Aung K. Win, Daniel D. Buchanan, Noralane M. Lindor, Finlay A. Macrae, Mark Clendenning, Yoland C. Antill, Stephen N. Thibodeau, Graham Casey, Steve Gallinger, Loic Le Marchand, Polly A. Newcomb, Robert W. Haile, Graeme P. Young, Paul A. James, Graham G. Giles, Shanaka R. Gunawardena, Barbara A. Leggett, Michael Gattas, Alex Boussioutas, Dennis J. Ahnen, John A. Baron, Susan Parry, Jack Goldblatt, Joanne P. Young, John L. Hopper and Mark A. Jenkins

    Article first published online : 18 FEB 2013, DOI: 10.1002/humu.22262

  10. Delineation of EFTUD2 Haploinsufficiency-Related Phenotypes Through a Series of 36 Patients

    Human Mutation

    Volume 35, Issue 4, April 2014, Pages: 478–485, Daphné Lehalle, Christopher T. Gordon, Myriam Oufadem, Géraldine Goudefroye, Lucile Boutaud, Jean-Luc Alessandri, Neus Baena, Geneviève Baujat, Clarisse Baumann, Odile Boute-Benejean, Roseline Caumes, Charles Decaestecker, Dominique Gaillard, Alice Goldenberg, Marie Gonzales, Muriel Holder-Espinasse, Marie-Line Jacquemont, Didier Lacombe, Sylvie Manouvrier-Hanu, Sandrine Marlin, Michèle Mathieu-Dramard, Gilles Morin, Laurent Pasquier, Florence Petit, Marlène Rio, Robert Smigiel, Christel Thauvin-Robinet, Alexandre Vasiljevic, Alain Verloes, Valérie Malan, Arnold Munnich, Loïc de Pontual, Michel Vekemans, Stanislas Lyonnet, Tania Attié-Bitach and Jeanne Amiel

    Article first published online : 5 MAR 2014, DOI: 10.1002/humu.22517

  11. RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation–Arteriovenous Malformation

    Human Mutation

    Volume 34, Issue 12, December 2013, Pages: 1632–1641, Nicole Revencu, Laurence M. Boon, Antonella Mendola, Maria Rosa Cordisco, Josée Dubois, Philippe Clapuyt, Frank Hammer, David J. Amor, Alan D. Irvine, Eulalia Baselga, Anne Dompmartin, Samira Syed, Ana Martin-Santiago, Lesley Ades, Felicity Collins, Janine Smith, Sarah Sandaradura, Victoria R. Barrio, Patricia E. Burrows, Francine Blei, Mariarosaria Cozzolino, Nicola Brunetti-Pierri, Asuncion Vicente, Marc Abramowicz, Julie Désir, Catheline Vilain, Wendy K. Chung, Ashley Wilson, Carol A. Gardiner, Yim Dwight, David J.E. Lord, Leona Fishman, Cheryl Cytrynbaum, Sarah Chamlin, Fred Ghali, Yolanda Gilaberte, Shelagh Joss, Maria del C. Boente, Christine Léauté-Labrèze, Marie-Ange Delrue, Susan Bayliss, Loreto Martorell, Maria-Antonia González-Enseñat, Juliette Mazereeuw-Hautier, Brid O'Donnell, Didier Bessis, Reed E. Pyeritz, Aicha Salhi, Oon T. Tan, Orli Wargon, John B. Mulliken and Miikka Vikkula

    Article first published online : 10 OCT 2013, DOI: 10.1002/humu.22431

  12. 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

  13. Recurrent HERV-H-Mediated 3q13.2–q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays

    Human Mutation

    Volume 34, Issue 10, October 2013, Pages: 1415–1423, Andrey Shuvarikov, Ian M. Campbell, Piotr Dittwald, Nicholas J. Neill, Martin G. Bialer, Christine Moore, Patricia G. Wheeler, Stephanie E. Wallace, Mark C. Hannibal, Michael F. Murray, Monica A. Giovanni, Deborah Terespolsky, Sandi Sodhi, Matteo Cassina, David Viskochil, Billur Moghaddam, Kristin Herman, Chester W. Brown, Christine R. Beck, Anna Gambin, Sau Wai Cheung, Ankita Patel, Allen N. Lamb, Lisa G. Shaffer, Jay W. Ellison, J. Britt Ravnan, Paweł Stankiewicz and Jill A. Rosenfeld

    Article first published online : 13 AUG 2013, DOI: 10.1002/humu.22384

  14. Novel KCNQ2 and KCNQ3 Mutations in a Large Cohort of Families with Benign Neonatal Epilepsy: First Evidence for an Altered Channel Regulation by Syntaxin-1A

    Human Mutation

    Volume 35, Issue 3, March 2014, Pages: 356–367, Maria Virginia Soldovieri, Nadia Boutry-Kryza, Mathieu Milh, Diane Doummar, Benedicte Heron, Emilie Bourel, Paolo Ambrosino, Francesco Miceli, Michela De Maria, Nathalie Dorison, Stephane Auvin, Bernard Echenne, Julie Oertel, Audrey Riquet, Laetitia Lambert, Marion Gerard, Anne Roubergue, Alain Calender, Cyril Mignot, Maurizio Taglialatela and Gaetan Lesca

    Article first published online : 13 JAN 2014, DOI: 10.1002/humu.22500

  15. Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype–Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome

    Human Mutation

    Volume 34, Issue 5, May 2013, Pages: 686–696, Mark T. Handley, Deborah J. Morris-Rosendahl, Stephen Brown, Fiona Macdonald, Carol Hardy, Danai Bem, Sarah M. Carpanini, Guntram Borck, Loreto Martorell, Claudia Izzi, Francesca Faravelli, Patrizia Accorsi, Lorenzo Pinelli, Lina Basel-Vanagaite, Gabriela Peretz, Ghada M.H. Abdel-Salam, Maha S. Zaki, Anna Jansen, David Mowat, Ian Glass, Helen Stewart, Grazia Mancini, Damien Lederer, Tony Roscioli, Fabienne Giuliano, Astrid S. Plomp, Arndt Rolfs, John M. Graham, Eva Seemanova, Pilar Poo, Àngels García-Cazorla, Patrick Edery, Ian J. Jackson, Eamonn R. Maher and Irene A. Aligianis

    Article first published online : 11 APR 2013, DOI: 10.1002/humu.22296

  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. You have full text access to this OnlineOpen article
    Pathogenic Mitochondrial tRNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease

    Human Mutation

    Volume 34, Issue 9, September 2013, Pages: 1260–1268, Emma L. Blakely, John W. Yarham, Charlotte L. Alston, Kate Craig, Joanna Poulton, Charlotte Brierley, Soo-Mi Park, Andrew Dean, John H. Xuereb, Kirstie N. Anderson, Alistair Compston, Chris Allen, Saba Sharif, Peter Enevoldson, Martin Wilson, Simon R. Hammans, Douglass M. Turnbull, Robert McFarland and Robert W. Taylor

    Article first published online : 14 AUG 2013, DOI: 10.1002/humu.22358

  18. IL-12Rβ1 Deficiency: Mutation Update and Description of the IL12RB1 Variation Database

    Human Mutation

    Volume 34, Issue 10, October 2013, Pages: 1329–1339, Esther van de Vosse, Margje H. Haverkamp, Noe Ramirez-Alejo, Mónica Martinez-Gallo, Lizbeth Blancas-Galicia, Ayşe Metin, Ben Zion Garty, Çağman Sun-Tan, Arnon Broides, Roelof A. de Paus, Özlem Keskin, Deniz Çağdaş, Ilhan Tezcan, Encarna Lopez-Ruzafa, Juan I. Aróstegui, Jacov Levy, Francisco J. Espinosa-Rosales, Özden Sanal, Leopoldo Santos-Argumedo, Jean-Laurent Casanova, Stephanie Boisson-Dupuis, Jaap T. van Dissel and Jacinta Bustamante

    Article first published online : 8 AUG 2013, DOI: 10.1002/humu.22380

  19. Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype–Phenotype Correlations

    Human Mutation

    Volume 34, Issue 11, November 2013, Pages: 1537–1546, Donna S. Mackay, Arundhati Dev Borman, Ruifang Sui, L. Ingeborgh van den Born, Eliot L. Berson, Louise A. Ocaka, Alice E. Davidson, John R. Heckenlively, Kari Branham, Huanan Ren, Irma Lopez, Maleeha Maria, Maleeha Azam, Arjen Henkes, Ellen Blokland, [LCA5 Study Group (see Acknowledgments for Universities), Sten Andreasson, Elfride de Baere, Jean Bennett, Gerald J. Chader, Wolfgang Berger, Irina Golovleva, Jacquie Greenberg, Anneke I. den Hollander, Caroline C.W. Klaver, B. Jeroen Klevering, Birgit Lorenz, Markus N. Preising, Raj Ramesar, Lisa Roberts, Ronald Roepman, Klaus Rohrschneider, Bernd Wissinger], Raheel Qamar, Andrew R. Webster, Frans P.M. Cremers, Anthony T. Moore and Robert K. Koenekoop

    Article first published online : 17 SEP 2013, DOI: 10.1002/humu.22398

  20. You have full text access to this OnlineOpen article
    Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency

    Human Mutation

    Volume 35, Issue 1, January 2014, Pages: 76–85, Jennie E. Murray, Louise S. Bicknell, Gökhan Yigit, Angela L. Duker, Margriet van Kogelenberg, Sara Haghayegh, Dagmar Wieczorek, Hülya Kayserili, Michael H. Albert, Carol A. Wise, January Brandon, Tjitske Kleefstra, Adilia Warris, Michiel van der Flier, J. Steven Bamforth, Kurston Doonanco, Lesley Adès, Alan Ma, Michael Field, Diana Johnson, Fiona Shackley, Helen Firth, C. Geoffrey Woods, Peter Nürnberg, Richard A. Gatti, Matthew Hurles, Michael B. Bober, Bernd Wollnik and Andrew P. Jackson

    Article first published online : 8 NOV 2013, DOI: 10.1002/humu.22461