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There are 2883 results for: content related to: Mutational spectrum of Smith–Lemli–Opitz syndrome

  1. You have free access to this content
    Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer

    International Journal of Cancer

    Volume 116, Issue 5, 20 September 2005, Pages: 692–702, Elisabeth Mangold, Constanze Pagenstecher, Waltraut Friedl, Micaela Mathiak, Reinhard Buettner, Christoph Engel, Markus Loeffler, Elke Holinski-Feder, Yvonne Müller-Koch, Gisela Keller, Hans K. Schackert, Stefan Krüger, Timm Goecke, Gabriela Moeslein, Matthias Kloor, Johannes Gebert, Erdmute Kunstmann, Karsten Schulmann, Josef Rüschoff, Peter Propping and the German HNPCC Consortium

    Version of Record online : 22 APR 2005, DOI: 10.1002/ijc.20863

  2. 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

  3. 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

  4. You have free access to this content
    Predictive testing in contact all_ergy: facts and future

    Allergy

    Volume 56, Issue 10, October 2001, Pages: 937–943, D. A. Basketter and I. Kimber

    Version of Record online : 6 JUN 2003, DOI: 10.1034/j.1398-9995.2001.00147.x

  5. 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

  6. 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

  7. 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

  8. AVPR2 variants and mutations in nephrogenic diabetes insipidus: Review and missense mutation significance

    Journal of Cellular Physiology

    Volume 217, Issue 3, December 2008, Pages: 605–617, Elias Spanakis, Edrice Milord and Claudia Gragnoli

    Version of Record online : 22 AUG 2008, DOI: 10.1002/jcp.21552

  9. Clinical and Genotypic Spectrum of Chronic Granulomatous Disease in 71 Latin American Patients: First Report from the LASID Registry

    Pediatric Blood & Cancer

    Volume 62, Issue 12, December 2015, Pages: 2101–2107, Edgar Borges de Oliveira-Junior, Nuria Bengala Zurro, Carolina Prando, Otavio Cabral-Marques, Paulo Vitor Soeiro Pereira, Lena-Friederick Schimke, Stefanie Klaver, Marcia Buzolin, Lizbeth Blancas-Galicia, Leopoldo Santos-Argumedo, Dino Roberto Pietropaolo-Cienfuegos, Francisco Espinosa-Rosales, Alejandra King, Ricardo Sorensen, Oscar Porras, Persio Roxo-Junior, Wilma Carvalho Neves Forte, Julio Cesar Orellana, Alejandro Lozano, Miguel Galicchio, Lorena Regairaz, Anete Sevciovic Grumach, Beatriz Tavares Costa-Carvalho, Jacinta Bustamante, Liliana Bezrodnik, Matias Oleastro, Silvia Danielian and Antonio Condino-Neto

    Version of Record online : 15 JUL 2015, DOI: 10.1002/pbc.25674

  10. Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)

    Annals of Neurology

    Volume 54, Issue 6, December 2003, Pages: 719–724, Katja Grohmann, Raymonda Varon, Piroschka Stolz, Markus Schuelke, Catrin Janetzki, Enrico Bertini, Kate Bushby, Francesco Muntoni, Robert Ouvrier, Lionel Van Maldergem, Nathalie M. L. A. Goemans, Hanns Lochmüller, Stephan Eichholz, Coleen Adams, Friedrich Bosch, Padraic Grattan-Smith, Carmen Navarro, Heidemarie Neitzel, Tilman Polster, Haluk Topaloğlu, Christina Steglich, Ulf P. Guenther, Klaus Zerres, Sabine Rudnik-Schöneborn and Christoph Hübner

    Version of Record online : 28 OCT 2003, DOI: 10.1002/ana.10755

  11. You have full text access to this OnlineOpen article
    Allelic background of LEPRE1 mutations that cause recessive forms of osteogenesis imperfecta in different populations

    Molecular Genetics & Genomic Medicine

    Volume 1, Issue 4, November 2013, Pages: 194–205, Melanie G. Pepin, Ulrike Schwarze, Virendra Singh, Marc Romana, Altheia Jones-LeCointe and Peter H. Byers

    Version of Record online : 26 JUN 2013, DOI: 10.1002/mgg3.21

  12. You have full text access to this OnlineOpen article
    A rigorous approach for selection of optimal variant sets for carrier screening with demonstration of clinical utility

    Molecular Genetics & Genomic Medicine

    Volume 3, Issue 4, July 2015, Pages: 363–373, Cynthia Perreault-Micale, Jocelyn Davie, Benjamin Breton, Stephanie Hallam and Valerie Greger

    Version of Record online : 23 APR 2015, DOI: 10.1002/mgg3.148

  13. Late infantile neuronal ceroid lipofuscinosis: Quantitative description of the clinical course in patients with CLN2 mutations

    American Journal of Medical Genetics

    Volume 112, Issue 4, 1 November 2002, Pages: 347–354, Robert Steinfeld, Peter Heim, Henning von Gregory, Kerstin Meyer, Kurt Ullrich, Hans H. Goebel and Alfried Kohlschütter

    Version of Record online : 26 JUL 2002, DOI: 10.1002/ajmg.10660

  14. Divergence between the Human and Chimpanzee Genomes and its Impact on Protein and Transcriptome Evolution

    Standard Article

    eLS

    Hildegard Kehrer-Sawatzki and David N Cooper

    Published Online : 30 APR 2008, DOI: 10.1002/9780470015902.a0006115.pub2

  15. Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations

    American Journal of Medical Genetics Part A

    Volume 170, Issue 8, August 2016, Pages: 2133–2140, Mohamed S. Abdel-Hamid, Manal F. Ismail, Hebatallh A. Darwish, Laila K. Effat, Maha S. Zaki and Ghada M. H. Abdel-Salam

    Version of Record online : 2 JUN 2016, DOI: 10.1002/ajmg.a.37724

  16. Mutations of chronic granulomatous disease in Turkish families

    European Journal of Clinical Investigation

    Volume 37, Issue 7, July 2007, Pages: 589–595, M. Y. Köker, Ö. Sanal, M. De Boer, İ. Tezcan, A. Metin, F. Ersoy and D. Roos

    Version of Record online : 15 JUN 2007, DOI: 10.1111/j.1365-2362.2007.01828.x

  17. De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females

    Clinical Genetics

    Volume 91, Issue 5, May 2017, Pages: 756–763, R. Webster, M.T. Cho, K. Retterer, F. Millan, C. Nowak, J. Douglas, A. Ahmad, G.V. Raymond, M.R. Johnson, A. Pujol, A. Begtrup, D. McKnight, O. Devinsky and W.K. Chung

    Version of Record online : 29 SEP 2016, DOI: 10.1111/cge.12854

  18. Assessment of PAX6 alleles in 66 families with aniridia

    Clinical Genetics

    Volume 89, Issue 6, June 2016, Pages: 669–677, A.M. Bobilev, M.E. McDougal, W.L. Taylor, E.E. Geisert, P.A. Netland and J.D. Lauderdale

    Version of Record online : 25 JAN 2016, DOI: 10.1111/cge.12708

  19. You have free access to this content
    Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith–Lemli–Opitz syndrome

    Annals of Human Genetics

    Volume 65, Issue 3, May 2001, Pages: 229–236, P. E. JIRA, R. J. A. WANDERS, J. A. M. SMEITINK, J. DE JONG, R. A. WEVERS, W. OOSTHEIM, J. H. A. M. TUERLINGS, R. C. M. HENNEKAM, R. C. A. SENGERS and H. R. WATERHAM

    Version of Record online : 10 FEB 2003, DOI: 10.1046/j.1469-1809.2001.6530229.x

  20. 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