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There are 5696 results for: content related to: Comprehensive Clinical and Molecular Analysis of 12 Families with Type 1 Recessive Cutis Laxa

  1. 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

  2. You have free access to this content
    DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome

    Human Mutation

    Volume 39, Issue 1, January 2018, Pages: 23–39, Ashley P. L. Marsh, Timothy J. Edwards, Charles Galea, Helen M. Cooper, Elizabeth C. Engle, Saumya S. Jamuar, Aurélie Méneret, Marie-Laure Moutard, Caroline Nava, Agnès Rastetter, Gail Robinson, Guy Rouleau, Emmanuel Roze, Megan Spencer-Smith, Oriane Trouillard, Thierry Billette de Villemeur, Christopher A. Walsh, Timothy W. Yu, IRC5 Consortium, Delphine Heron, Elliott H. Sherr, Linda J. Richards, Christel Depienne, Richard J. Leventer and Paul J. Lockhart

    Version of Record online : 11 NOV 2017, DOI: 10.1002/humu.23361

  3. TARDBP and FUS Mutations Associated with Amyotrophic Lateral Sclerosis: Summary and Update

    Human Mutation

    Volume 34, Issue 6, June 2013, Pages: 812–826, Serena Lattante, Guy A. Rouleau and Edor Kabashi

    Version of Record online : 29 APR 2013, DOI: 10.1002/humu.22319

  4. 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

  5. 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

    Version of Record online : 3 DEC 2013, DOI: 10.1002/humu.22478

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    Variation Interpretation Predictors: Principles, Types, Performance, and Choice

    Human Mutation

    Volume 37, Issue 6, June 2016, Pages: 579–597, Abhishek Niroula and Mauno Vihinen

    Version of Record online : 15 APR 2016, DOI: 10.1002/humu.22987

  7. 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

  8. Noncoding RNA: Current Deep Sequencing Data Analysis Approaches and Challenges

    Human Mutation

    Volume 37, Issue 12, December 2016, Pages: 1283–1298, Dario Veneziano, Sebastiano Di Bella, Giovanni Nigita, Alessandro Laganà, Afredo Ferro and Carlo M. Croce

    Version of Record online : 5 SEP 2016, DOI: 10.1002/humu.23066

  9. 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

  10. Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases

    Human Mutation

    Volume 35, Issue 1, January 2014, Pages: 15–26, Celeste Bento, Melanie J. Percy, Betty Gardie, Tabita Magalhães Maia, Richard van Wijk, Silverio Perrotta, Fulvio Della Ragione, Helena Almeida, Cedric Rossi, François Girodon, Maria Åström, Drorit Neumann, Susanne Schnittger, Britta Landin, Milen Minkov, Maria Luigia Randi, Stéphane Richard, Nicole Casadevall, William Vainchenker, Susana Rives, Sylvie Hermouet, M. Leticia Ribeiro, Mary Frances McMullin, Holger Cario, on behalf of ECE-Consortium, Aurelie Chauveau, Anne-Paule Gimenez-Roqueplo, Brigitte Bressac-de-Paillerets, Didem Altindirek, Felipe Lorenzo, Frederic Lambert, Harlev Dan, Sophie Gad-Lapiteau, Ana Catarina Oliveira, Cédric Rossi, Cristina Fraga, Gennadiy Taradin, Guillermo Martin-Nuñez, Helena Vitória, Herrera Diaz Aguado, Jan Palmblad, Julia Vidán, Luis Relvas, Maria Leticia Ribeiro, Maria Luigi Larocca, Maria Luigia Randi, Maria Pedro Silveira, Melanie Percy, Mor Gross, Ricardo Marques da Costa, Soheir Beshara, Tal Ben-Ami and Valérie Ugo

    Version of Record online : 22 OCT 2013, DOI: 10.1002/humu.22448

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    CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants

    Human Mutation

    Volume 39, Issue 1, January 2018, Pages: 5–22, Leandro Simonetti, Carlos D. Bruque, Cecilia S. Fernández, Belén Benavides-Mori, Marisol Delea, Jorge E. Kolomenski, Lucía D. Espeche, Noemí D. Buzzalino, Alejandro D. Nadra and Liliana Dain

    Version of Record online : 6 NOV 2017, DOI: 10.1002/humu.23351

  12. Correlating Multiallelic Copy Number Polymorphisms with Disease Susceptibility

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 1–13, Stuart Cantsilieris and Stefan J. White

    Version of Record online : 23 AUG 2012, DOI: 10.1002/humu.22172

  13. Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects

    Human Mutation

    Deepti Anand, Smriti A. Agrawal, Anne Slavotinek and Salil A. Lachke

    Version of Record online : 16 JAN 2018, DOI: 10.1002/humu.23395

  14. 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

  15. You have full text access to this OnlineOpen article
    High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

    Human Mutation

    Volume 36, Issue 11, November 2015, Pages: 1052–1063, Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes, Angela Sharp, Tom Callens, Yunjia Chen, Ying Liu, Meagan Cochran, Mary-Alice Abbott, Joan Atkin, Dusica Babovic-Vuksanovic, Christopher P. Barnett, Melissa Crenshaw, Dennis W. Bartholomew, Lina Basel, Gary Bellus, Shay Ben-Shachar, Martin G. Bialer, David Bick, Bruce Blumberg, Fanny Cortes, Karen L. David, Anne Destree, Anna Duat-Rodriguez, Dawn Earl, Luis Escobar, Marthanda Eswara, Begona Ezquieta, Ian M. Frayling, Moshe Frydman, Kathy Gardner, Karen W. Gripp, Concepcion Hernández-Chico, Kurt Heyrman, Jennifer Ibrahim, Sandra Janssens, Beth A Keena, Isabel Llano-Rivas, Kathy Leppig, Marie McDonald, Vinod K. Misra, Jennifer Mulbury, Vinodh Narayanan, Naama Orenstein, Patricia Galvin-Parton, Helio Pedro, Eniko K. Pivnick, Cynthia M. Powell, Linda Randolph, Salmo Raskin, Jordi Rosell, Karol Rubin, Margretta Seashore, Christian P. Schaaf, Angela Scheuerle, Meredith Schultz, Elizabeth Schorry, Rhonda Schnur, Elizabeth Siqveland, Amanda Tkachuk, James Tonsgard, Meena Upadhyaya, Ishwar C. Verma, Stephanie Wallace, Charles Williams, Elaine Zackai, Jonathan Zonana, Conxi Lazaro, Kathleen Claes, Bruce Korf, Yolanda Martin, Eric Legius and Ludwine Messiaen

    Version of Record online : 21 AUG 2015, DOI: 10.1002/humu.22832

  16. 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

  17. WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects

    Human Mutation

    Volume 38, Issue 1, January 2017, Pages: 7–15, Koutaro Yokote, Sirisak Chanprasert, Lin Lee, Katharina Eirich, Minoru Takemoto, Aki Watanabe, Naoko Koizumi, Davor Lessel, Takayasu Mori, Fuki M. Hisama, Paula D. Ladd, Brad Angle, Hagit Baris, Kivanc Cefle, Sukru Palanduz, Sukru Ozturk, Antoinette Chateau, Kentaro Deguchi, T.K.M Easwar, Antonio Federico, Amy Fox, Theresa A. Grebe, Beverly Hay, Sheela Nampoothiri, Karen Seiter, Elizabeth Streeten, Raul E. Piña-Aguilar, Gemma Poke, Martin Poot, Renata Posmyk, George M. Martin, Christian Kubisch, Detlev Schindler and Junko Oshima

    Version of Record online : 7 OCT 2016, DOI: 10.1002/humu.23128

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    Mutant TP53 Posttranslational Modifications: Challenges and Opportunities

    Human Mutation

    Volume 35, Issue 6, June 2014, Pages: 738–755, Thuy-Ai Nguyen, Daniel Menendez, Michael A. Resnick and Carl W. Anderson

    Version of Record online : 11 FEB 2014, DOI: 10.1002/humu.22506

  19. 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

  20. 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

    Version of Record online : 8 AUG 2013, DOI: 10.1002/humu.22380