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There are 18695 results for: content related to: The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals

  1. Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 11, November 2012, Pages: 2820–2828, Ashwin Dalal, Sri Lakshmi Bhavani G, Padma Priya Togarrati, Tatjana Bierhals, Madhusudan R. Nandineni, Sumita Danda, Debashish Danda, Hitesh Shah, Sandeep Vijayan, Kalpana Gowrishankar, Shubha R Phadke, Abdul Mueed Bidchol, Anand Prahalad Rao, Sheela Nampoothiri, Kerstin Kutsche and K.M. Girisha

    Version of Record online : 17 SEP 2012, DOI: 10.1002/ajmg.a.35620

  2. Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2

    Human Mutation

    Volume 37, Issue 9, September 2016, Pages: 847–864, Nina Bögershausen, Vincent Gatinois, Vera Riehmer, Hülya Kayserili, Jutta Becker, Michaela Thoenes, Pelin Özlem Simsek-Kiper, Mouna Barat-Houari, Nursel H. Elcioglu, Dagmar Wieczorek, Sigrid Tinschert, Guillaume Sarrabay, Tim M. Strom, Aurélie Fabre, Gareth Baynam, Elodie Sanchez, Gudrun Nürnberg, Umut Altunoglu, Yline Capri, Bertrand Isidor, Didier Lacombe, Carole Corsini, Valérie Cormier-Daire, Damien Sanlaville, Fabienne Giuliano, Kim-Hanh Le Quan Sang, Honorine Kayirangwa, Peter Nürnberg, Thomas Meitinger, Koray Boduroglu, Barbara Zoll, Stanislas Lyonnet, Andreas Tzschach, Alain Verloes, Nataliya Di Donato, Isabelle Touitou, Christian Netzer, Yun Li, David Geneviève, Gökhan Yigit and Bernd Wollnik

    Version of Record online : 7 JUL 2016, DOI: 10.1002/humu.23026

  3. 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

    Version of Record online : 18 MAY 2015, DOI: 10.1002/humu.22796

  4. You have full text access to this OnlineOpen article
    Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome

    Molecular Genetics & Genomic Medicine

    Christine Neuhaus, Tobias Eisenberger, Christian Decker, Sandra Nagl, Cornelia Blank, Markus Pfister, Ingo Kennerknecht, Cornelie Müller-Hofstede, Peter Charbel Issa, Raoul Heller, Bodo Beck, Klaus Rüther, Diana Mitter, Klaus Rohrschneider, Ute Steinhauer, Heike M. Korbmacher, Dagmar Huhle, Solaf M. Elsayed, Hesham M. Taha, Shahid M. Baig, Heidi Stöhr, Markus Preising, Susanne Markus, Fabian Moeller, Birgit Lorenz, Kerstin Nagel-Wolfrum, Arif O. Khan and Hanno J. Bolz

    Version of Record online : 6 JUL 2017, DOI: 10.1002/mgg3.312

  5. Spectrum of the Mutations in Bernard–Soulier Syndrome

    Human Mutation

    Volume 35, Issue 9, September 2014, Pages: 1033–1045, Anna Savoia, Shinji Kunishima, Daniela De Rocco, Barbara Zieger, Margaret L. Rand, Nuria Pujol-Moix, Umran Caliskan, Huseyin Tokgoz, Alessandro Pecci, Patrizia Noris, Alok Srivastava, Christopher Ward, Marie-Christine Morel-Kopp, Marie-Christine Alessi, Sylvia Bellucci, Philippe Beurrier, Emmanuel de Maistre, Rémi Favier, Nathalie Hézard, Marie-Françoise Hurtaud-Roux, Véronique Latger-Cannard, Cécile Lavenu-Bombled, Valérie Proulle, Sandrine Meunier, Claude Négrier, Alan Nurden, Hanitra Randrianaivo, Fabrizio Fabris, Helen Platokouki, Nurit Rosenberg, Basma HadjKacem, Paula G. Heller, Mehran Karimi, Carlo L. Balduini, Annalisa Pastore and Francois Lanza

    Version of Record online : 15 JUL 2014, DOI: 10.1002/humu.22607

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    Genetics of the corneal endothelial dystrophies: an evidence-based review

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 109–119, A J Aldave, J Han and R F Frausto

    Version of Record online : 10 JUN 2013, DOI: 10.1111/cge.12191

  7. Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria

    Human Mutation

    Volume 33, Issue 10, October 2012, Pages: 1485–1493, Sofie Symoens, Delfien Syx, Fransiska Malfait, Bert Callewaert, Julie De Backer, Olivier Vanakker, Paul Coucke and Anne De Paepe

    Version of Record online : 5 JUL 2012, DOI: 10.1002/humu.22137

  8. Analysis of ASPM in an ethnically diverse cohort of 400 patient samples: perspectives of the molecular diagnostic laboratory

    Clinical Genetics

    Volume 85, Issue 4, April 2014, Pages: 353–358, CA Tan, D. del Gaudio, M.A. Dempsey, K. Arndt, S. Botes, A. Reeder and S. Das

    Version of Record online : 13 MAY 2013, DOI: 10.1111/cge.12172

  9. You have full text access to this OnlineOpen article
    Usher syndrome in Denmark: mutation spectrum and some clinical observations

    Molecular Genetics & Genomic Medicine

    Volume 4, Issue 5, September 2016, Pages: 527–539, Shzeena Dad, Nanna Dahl Rendtorff, Lisbeth Tranebjærg, Karen Grønskov, Helena Gásdal Karstensen, Vigdis Brox, Øivind Nilssen, Anne-Françoise Roux, Thomas Rosenberg, Hanne Jensen and Lisbeth Birk Møller

    Version of Record online : 28 JUN 2016, DOI: 10.1002/mgg3.228

  10. Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients

    Clinical Genetics

    Volume 90, Issue 4, October 2016, Pages: 324–333, F. Lhota, P. Zemankova, P. Kleiblova, J. Soukupova, M. Vocka, V. Stranecky, M. Janatova, H. Hartmannova, K. Hodanova, S. Kmoch and Z. Kleibl

    Version of Record online : 4 MAR 2016, DOI: 10.1111/cge.12748

  11. Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria

    Human Mutation

    Volume 38, Issue 8, August 2017, Pages: 988–1001, Tanja Plessl, Céline Bürer, Seraina Lutz, Wyatt W. Yue, Matthias R. Baumgartner and D. Sean Froese

    Version of Record online : 6 JUN 2017, DOI: 10.1002/humu.23251

  12. You have full text access to this OnlineOpen article
    Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia

    Human Mutation

    Volume 38, Issue 7, July 2017, Pages: 764–777, Dewi Astuti, Ataf Sabir, Piers Fulton, Malgorzata Zatyka, Denise Williams, Carol Hardy, Gabriella Milan, Francesca Favaretto, Patrick Yu-Wai-Man, Julia Rohayem, Miguel López de Heredia, Tamara Hershey, Lisbeth Tranebjaerg, Jian-Hua Chen, Annabel Chaussenot, Virginia Nunes, Bess Marshall, Susan McAfferty, Vallo Tillmann, Pietro Maffei, Veronique Paquis-Flucklinger, Tarekign Geberhiwot, Wojciech Mlynarski, Kay Parkinson, Virginie Picard, Gema Esteban Bueno, Renuka Dias, Amy Arnold, Caitlin Richens, Richard Paisey, Fumihiko Urano, Robert Semple, Richard Sinnott and Timothy G. Barrett

    Version of Record online : 1 JUN 2017, DOI: 10.1002/humu.23233

  13. Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic

    Clinical Genetics

    Volume 91, Issue 3, March 2017, Pages: 463–469, K. Stehlíková, D. Skálová, J. Zídková, J. Haberlová, S. Voháňka, R. Mazanec, L. Mrázová, P. Vondráček, H. Ošlejšková, J. Zámečník, T. Honzík, J. Zeman, M. Magner, D. Šišková, M. Langová, V. Gregor, M. Godava, V. Smolka and L. Fajkusová

    Version of Record online : 26 SEP 2016, DOI: 10.1111/cge.12839

  14. Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum

    Human Mutation

    Volume 35, Issue 5, May 2014, Pages: 521–531, Maja Sukalo, Ariane Fiedler, Celina Guzmán, Stephanie Spranger, Marie-Claude Addor, Jiad N. Mcheik, Manuel Oltra Benavent, Jan M. Cobben, Lynette A. Gillis, Amy G. Shealy, Charu Deshpande, Bita Bozorgmehr, David B. Everman, Eva-Lena Stattin, Jan Liebelt, Klaus-Michael Keller, Débora Romeo Bertola, Clara D.M. van Karnebeek, Carsten Bergmann, Zhifeng Liu, Gesche Düker, Nima Rezaei, Fowzan S. Alkuraya, Gönül Oğur, Abdullah Alrajoudi, Carlos A. Venegas-Vega, Nienke E. Verbeek, Erick J. Richmond, Özgür Kirbiyik, Prajnya Ranganath, Ankur Singh, Koumudi Godbole, Fouad A. M. Ali, Crésio Alves, Julia Mayerle, Markus M. Lerch, Heiko Witt and Martin Zenker

    Version of Record online : 9 APR 2014, DOI: 10.1002/humu.22538

  15. Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects

    Human Mutation

    Volume 36, Issue 12, December 2015, Pages: 1113–1127, Rajiv D. Machado, Laura Southgate, Christina A. Eichstaedt, Micheala A. Aldred, Eric D. Austin, D. Hunter Best, Wendy K. Chung, Nicola Benjamin, C. Gregory Elliott, Mélanie Eyries, Christine Fischer, Stefan Gräf, Katrin Hinderhofer, Marc Humbert, Steven B. Keiles, James E. Loyd, Nicholas W. Morrell, John H. Newman, Florent Soubrier, Richard C. Trembath, Rebecca Rodríguez Viales and Ekkehard Grünig

    Version of Record online : 12 OCT 2015, DOI: 10.1002/humu.22904

  16. Novel and recurrent mutations in WISP3 and an atypical phenotype

    American Journal of Medical Genetics Part A

    Volume 167, Issue 10, October 2015, Pages: 2481–2484, Gandham SriLakshmi Bhavani, Hitesh Shah, Ashwin B. Dalal, Anju Shukla, Sumita Danda, Shagun Aggarwal, Shubha R. Phadke, Neerja Gupta, Madhulika Kabra, Kalpana Gowrishankar, Anju Gupta, Meenakshi Bhat, Ratna D. Puri, Sunita Bijarnia-Mahay, Sheela Nampoothiri, Kavitha M. Mohanasundaram, S. Rajeswari, Akhil M. Kulkarni, Muralidhar L. Kulkarni, Prajnya Ranganath, A. Radha Ramadevi, Sankar V. Hariharan and Katta Mohan Girisha

    Version of Record online : 18 MAY 2015, DOI: 10.1002/ajmg.a.37164

  17. National mutation study among Danish patients with hereditary haemorrhagic telangiectasia

    Clinical Genetics

    Volume 86, Issue 2, August 2014, Pages: 123–133, P.M. Tørring, K. Brusgaard, L.B. Ousager, P.E. Andersen and A.D. Kjeldsen

    Version of Record online : 3 OCT 2013, DOI: 10.1111/cge.12269

  18. Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

    Human Mutation

    Volume 33, Issue 8, August 2012, Pages: 1161–1165, Marian Kroos, Marianne Hoogeveen-Westerveld, Helen Michelakakis, Robert Pomponio, Ans Van der Ploeg, Dicky Halley, Arnold Reuser, GAA Database Consortium:, Persephone Augoustides-Savvopoulou, Margreet Ausems, Jose Barcena Llona, Juan Bautista Lorite, Nadine van der Beek, Luisa Bonafe, Mario Cuk, Marc D'Hooghe, Baziel Engelen, A. Farouk, K. Fumic, E. Garcia-Delgado, Andreas Herzog, J. Hurst, Simon Jones, M. H. Kariminejad, Aynur Küçükçongar, W. Lissens, Allan Lund, Danielle Majoor-Krakauer, Shingo Kumamoto, E. Maravi, Suely Marie, Eugen Mengel, Irene Mavridou, E. Munteis Olivas, H. Najmabadi, Toshika Okumiya, Stojan Peric, Eduard Paschke, Barbara Plecko, Wim Robberecht, Piraye Serdaroglu, Mohammad Shboul, Mojca Zerjav Tansek, A. Tarnutzer, Vidosava Rakocevic Stojanovic, Anna Tylki-Szymanska, Maria Venâncio and Kristof Verhoeven

    Version of Record online : 29 MAY 2012, DOI: 10.1002/humu.22108

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

    Human Mutation

    Volume 36, Issue 8, August 2015, Pages: 743–752, 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

    Version of Record online : 11 JUN 2015, DOI: 10.1002/humu.22804

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    Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann–Pick disease

    American Journal of Medical Genetics Part A

    Volume 170, Issue 10, October 2016, Pages: 2719–2730, Prajnya Ranganath, Divya Matta, Gandham SriLakshmi Bhavani, Savita Wangnekar, Jamal Mohammed Nurul Jain, Ishwar C. Verma, Madhulika Kabra, Ratna Dua Puri, Sumita Danda, Neerja Gupta, Katta M. Girisha, Vaikom H. Sankar, Siddaramappa J. Patil, Akella Radha Ramadevi, Meenakshi Bhat, Kalpana Gowrishankar, Kausik Mandal, Shagun Aggarwal, Parag Mohan Tamhankar, Preetha Tilak, Shubha R. Phadke and Ashwin Dalal

    Version of Record online : 24 JUN 2016, DOI: 10.1002/ajmg.a.37817