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There are 8984 results for: content related to: Mutations in CCDC 39 and CCDC 40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms

  1. Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization

    Human Mutation

    Volume 37, Issue 8, August 2016, Pages: 776–785, Ludovic Jeanson, Lucie Thomas, Bruno Copin, André Coste, Isabelle Sermet-Gaudelus, Florence Dastot-Le Moal, Philippe Duquesnoy, Guy Montantin, Nathalie Collot, Sylvie Tissier, Jean-François Papon, Annick Clement, Bruno Louis, Estelle Escudier, Serge Amselem and Marie Legendre

    Version of Record online : 12 MAY 2016, DOI: 10.1002/humu.23005

  2. Novel Mutations Including Deletions of the Entire OFD1 Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 237–247, Izak J. Bisschoff, Christine Zeschnigk, Denise Horn, Brigitte Wellek, Angelika Rieß, Maja Wessels, Patrick Willems, Peter Jensen, Andreas Busche, Jens Bekkebraten, Maya Chopra, Hanne Dahlgaard Hove, Christina Evers, Ketil Heimdal, Ann-Sophie Kaiser, Erdmut Kunstmann, Kristina Lagerstedt Robinson, Maja Linné, Patricia Martin, James McGrath, Winnie Pradel, Katrina E. Prescott, Bernd Roesler, Gorazd Rudolf, Ulrike Siebers-Renelt, Nataliya Tyshchenko, Dagmar Wieczorek, Gerhard Wolff, William B. Dobyns and Deborah J. Morris-Rosendahl

    Version of Record online : 17 OCT 2012, DOI: 10.1002/humu.22224

  3. Insight into IKBKG/NEMO Locus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease

    Human Mutation

    Volume 35, Issue 2, February 2014, Pages: 165–177, Matilde Immacolata Conte, Alessandra Pescatore, Mariateresa Paciolla, Elio Esposito, Maria Giuseppina Miano, Maria Brigida Lioi, Maeve A. McAleer, Giuliana Giardino, Claudio Pignata, Alan D. Irvine, Angela E. Scheuerle, Ghislaine Royer, Smail Hadj-Rabia, Christine Bodemer, Jean-Paul Bonnefont, Arnold Munnich, Asma Smahi, Julie Steffann, Francesca Fusco and Matilde Valeria Ursini

    Version of Record online : 12 DEC 2013, DOI: 10.1002/humu.22483

  4. 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

  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

  6. Mutation Update for UBE3A Variants in Angelman Syndrome

    Human Mutation

    Volume 35, Issue 12, December 2014, Pages: 1407–1417, Bekim Sadikovic, Priscilla Fernandes, Victor Wei Zhang, Patricia A. Ward, Irene Miloslavskaya, William Rhead, Richard Rosenbaum, Robert Gin, Benjamin Roa and Ping Fang

    Version of Record online : 24 NOV 2014, DOI: 10.1002/humu.22687

  7. You have full text access to this OnlineOpen article
    Nonsense Mutation in Coiled-Coil Domain Containing 151 Gene (CCDC151) Causes Primary Ciliary Dyskinesia

    Human Mutation

    Volume 35, Issue 12, December 2014, Pages: 1446–1448, Muslim M. Alsaadi, A. Mesut Erzurumluoglu, Santiago Rodriguez, Philip A. I. Guthrie, Tom R. Gaunt, Hager Z. Omar, Mohammad Mubarak, Khalid K. Alharbi, Ammar C. Al-Rikabi and Ian N. M. Day

    Version of Record online : 24 NOV 2014, DOI: 10.1002/humu.22698

  8. Founder Mutation in RSPH4A Identified in Patients of Hispanic Descent with Primary Ciliary Dyskinesia

    Human Mutation

    Volume 34, Issue 10, October 2013, Pages: 1352–1356, M. Leigh Anne Daniels, Margaret W. Leigh, Stephanie D. Davis, Michael C. Armstrong, Johnny L. Carson, Milan Hazucha, Sharon D. Dell, Maria Eriksson, Francis S. Collins, Michael R. Knowles and Maimoona A. Zariwala

    Version of Record online : 6 AUG 2013, DOI: 10.1002/humu.22371

  9. A Rising Titan: TTN Review and Mutation Update

    Human Mutation

    Volume 35, Issue 9, September 2014, Pages: 1046–1059, Claire Chauveau, John Rowell and Ana Ferreiro

    Version of Record online : 21 JUL 2014, DOI: 10.1002/humu.22611

  10. Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defect

    Human Mutation

    Volume 38, Issue 8, August 2017, Pages: 964–969, Christine Edelbusch, Sandra Cindrić, Gerard W. Dougherty, Niki T. Loges, Heike Olbrich, Joseph Rivlin, Julia Wallmeier, Petra Pennekamp, Israel Amirav and Heymut Omran

    Version of Record online : 15 JUN 2017, DOI: 10.1002/humu.23261

  11. CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants

    Human Mutation

    Volume 38, Issue 10, October 2017, Pages: 1297–1315, Mireille Claustres, Corinne Thèze, Marie des Georges, David Baux, Emmanuelle Girodon, Thierry Bienvenu, Marie-Pierre Audrezet, Ingrid Dugueperoux, Claude Férec, Guy Lalau, Adrien Pagin, Alain Kitzis, Vincent Thoreau, Véronique Gaston, Eric Bieth, Marie-Claire Malinge, Marie-Pierre Reboul, Patricia Fergelot, Lydie Lemonnier, Chadia Mekki, Pascale Fanen, Anne Bergougnoux, Souphatta Sasorith, Caroline Raynal and Corinne Bareil

    Version of Record online : 28 JUN 2017, DOI: 10.1002/humu.23276

  12. 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

  13. 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

    Version of Record online : 13 MAR 2015, DOI: 10.1002/humu.22738

  14. 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

    Version of Record online : 17 JUL 2014, DOI: 10.1002/humu.22583

  15. Correlation of Phenotype/Genotype in a Cohort of 23 Xeroderma Pigmentosum-Variant Patients Reveals 12 New Disease-Causing POLH Mutations

    Human Mutation

    Volume 35, Issue 1, January 2014, Pages: 117–128, Kristina Opletalova, Agnès Bourillon, Wei Yang, Caroline Pouvelle, Jacques Armier, Emmanuelle Despras, Ludovic Martin, Christine Mateus, Caroline Robert, Patricia Kannouche, Nadem Soufir and Alain Sarasin

    Version of Record online : 4 NOV 2013, DOI: 10.1002/humu.22462

  16. You have full text access to this OnlineOpen article
    Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma

    Human Mutation

    Volume 38, Issue 12, December 2017, Pages: 1621–1648, Luís Cardoso, Mark Stevenson and Rajesh V. Thakker

    Version of Record online : 25 SEP 2017, DOI: 10.1002/humu.23337

  17. 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

    Version of Record online : 13 AUG 2012, DOI: 10.1002/humu.22165

  18. Mutations in the Genes Encoding the Transcription Factors Hepatocyte Nuclear Factor 1 Alpha and 4 Alpha in Maturity-Onset Diabetes of the Young and Hyperinsulinemic Hypoglycemia

    Human Mutation

    Volume 34, Issue 5, May 2013, Pages: 669–685, Kevin Colclough, Christine Bellanne-Chantelot, Cecile Saint-Martin, Sarah E. Flanagan and Sian Ellard

    Version of Record online : 2 APR 2013, DOI: 10.1002/humu.22279

  19. Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey–Hailey Disease

    Human Mutation

    Volume 38, Issue 4, April 2017, Pages: 343–356, Ruud G.L. Nellen, Peter M. Steijlen, Maurice A.M. van Steensel, Maaike Vreeburg, European Professional Contributors, Jorge Frank and Michel van Geel

    Version of Record online : 15 FEB 2017, DOI: 10.1002/humu.23164

  20. You have free access to this content
    Determination of disease phenotypes and pathogenic variants from exome sequence data in the CAGI 4 gene panel challenge

    Human Mutation

    Volume 38, Issue 9, September 2017, Pages: 1201–1216, Kunal Kundu, Lipika R. Pal, Yizhou Yin and John Moult

    Version of Record online : 27 JUN 2017, DOI: 10.1002/humu.23249