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There are 6856 results for: content related to: P heno DB : A New Web-Based Tool for the Collection, Storage, and Analysis of Phenotypic Features

  1. 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

  2. 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

  3. 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

  4. You have full text access to this OnlineOpen article
    Comparative Analysis and Functional Mapping of SACS Mutations Reveal Novel Insights into Sacsin Repeated Architecture

    Human Mutation

    Volume 34, Issue 3, March 2013, Pages: 525–537, Alessandro Romano, Alessandra Tessa, Amilcare Barca, Fabiana Fattori, Maria Fulvia de Leva, Alessandra Terracciano, Carlo Storelli, Filippo Maria Santorelli and Tiziano Verri

    Version of Record online : 18 FEB 2013, DOI: 10.1002/humu.22269

  5. You have full text access to this OnlineOpen article
    Increased Population Risk of AIP-Related Acromegaly and Gigantism in Ireland

    Human Mutation

    Volume 38, Issue 1, January 2017, Pages: 78–85, Serban Radian, Yoan Diekmann, Plamena Gabrovska, Brendan Holland, Lisa Bradley, Helen Wallace, Karen Stals, Anna-Marie Bussell, Karen McGurren, Martin Cuesta, Anthony W. Ryan, Maria Herincs, Laura C. Hernández-Ramírez, Aidan Holland, Jade Samuels, Elena Daniela Aflorei, Sayka Barry, Judit Dénes, Ida Pernicova, Craig E. Stiles, Giampaolo Trivellin, Ronan McCloskey, Michal Ajzensztejn, Noina Abid, Scott A. Akker, Moises Mercado, Mark Cohen, Rajesh V. Thakker, Stephanie Baldeweg, Ariel Barkan, Madalina Musat, Miles Levy, Stephen M. Orme, Martina Unterländer, Joachim Burger, Ajith V. Kumar, Sian Ellard, Joseph McPartlin, Ross McManus, Gerard J. Linden, Brew Atkinson, David J. Balding, Amar Agha, Chris J. Thompson, Steven J. Hunter, Mark G. Thomas, Patrick J. Morrison and Márta Korbonits

    Version of Record online : 4 OCT 2016, DOI: 10.1002/humu.23121

  6. You have full text access to this OnlineOpen article
    TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

    Human Mutation

    Volume 38, Issue 3, March 2017, Pages: 297–309, Julie van der Zee, Ilse Gijselinck, Sara Van Mossevelde, Federica Perrone, Lubina Dillen, Bavo Heeman, Veerle Bäumer, Sebastiaan Engelborghs, Jan De Bleecker, Jonathan Baets, Ellen Gelpi, Ricardo Rojas-García, Jordi Clarimón, Alberto Lleó, Janine Diehl-Schmid, Panagiotis Alexopoulos, Robert Perneczky, Matthis Synofzik, Jennifer Just, Ludger Schöls, Caroline Graff, Håkan Thonberg, Barbara Borroni, Alessandro Padovani, Albena Jordanova, Stayko Sarafov, Ivailo Tournev, Alexandre de Mendonça, Gabriel Miltenberger-Miltényi, Frederico Simões do Couto, Alfredo Ramirez, Frank Jessen, Michael T. Heneka, Estrella Gómez-Tortosa, Adrian Danek, Patrick Cras, Rik Vandenberghe, Peter De Jonghe, Peter P. De Deyn, Kristel Sleegers, Marc Cruts, Christine Van Broeckhoven, Johan Goeman, Dirk Nuytten, Katrien Smets, Wim Robberecht, Philip Van Damme, Jan De Bleecker, Patrick Santens, Bart Dermaut, Jan Versijpt, Alex Michotte, Adrian Ivanoiu, Olivier Deryck, Bruno Bergmans, Jean Delbeck, Marc Bruyland, Christiana Willems, Eric Salmon, Pau Pastor, Sara Ortega-Cubero, Luisa Benussi, Roberta Ghidoni, Giuliano Binetti, Isabel Hernández, Mercè Boada, Agustín Ruiz, Sandro Sorbi, Benedetta Nacmias, Silvia Bagnoli, Sandro Sorbi, Raquel Sanchez-Valle, Albert Llado, Isabel Santana, Maria Rosário Almeida, Giovanni B Frisoni, Walter Maetzler, Radoslav Matej, Matthew J. Fraidakis, Gabor G. Kovacs, Gian Maria Fabrizi and Silvia Testi

    Version of Record online : 19 JAN 2017, DOI: 10.1002/humu.23161

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    PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases

    Human Mutation

    Volume 36, Issue 10, October 2015, Pages: 931–940, Orion J. Buske, Marta Girdea, Sergiu Dumitriu, Bailey Gallinger, Taila Hartley, Heather Trang, Andriy Misyura, Tal Friedman, Chandree Beaulieu, William P. Bone, Amanda E. Links, Nicole L. Washington, Melissa A. Haendel, Peter N. Robinson, Cornelius F. Boerkoel, David Adams, William A. Gahl, Kym M. Boycott and Michael Brudno

    Version of Record online : 31 AUG 2015, DOI: 10.1002/humu.22851

  8. You have free access to this content
    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

  9. The Human Serotonin Type 3 Receptor Gene (HTR3A-E) Allelic Variant Database

    Human Mutation

    Volume 38, Issue 2, February 2017, Pages: 137–147, Jacopo Celli, Gudrun Rappold and Beate Niesler

    Version of Record online : 9 NOV 2016, DOI: 10.1002/humu.23136

  10. CDKN2A Unclassified Variants in Familial Malignant Melanoma: Combining Functional and Computational Approaches for Their Assessment

    Human Mutation

    Volume 35, Issue 7, July 2014, Pages: 828–840, Maria Chiara Scaini, Giovanni Minervini, Lisa Elefanti, Paola Ghiorzo, Lorenza Pastorino, Silvia Tognazzo, Simona Agata, Monica Quaggio, Daniela Zullato, Giovanna Bianchi-Scarrà, Marco Montagna, Emma D'Andrea, Chiara Menin and Silvio C.E. Tosatto

    Version of Record online : 21 MAY 2014, DOI: 10.1002/humu.22550

  11. You have full text access to this OnlineOpen article
    Functional Studies of Tyrosine Hydroxylase Missense Variants Reveal Distinct Patterns of Molecular Defects in Dopa-Responsive Dystonia

    Human Mutation

    Volume 35, Issue 7, July 2014, Pages: 880–890, Agnete Fossbakk, Rune Kleppe, Per M. Knappskog, Aurora Martinez and Jan Haavik

    Version of Record online : 3 JUN 2014, DOI: 10.1002/humu.22565

  12. Analysis of Crossover Breakpoints Yields New Insights into the Nature of the Gene Conversion Events Associated with Large NF1 Deletions Mediated by Nonallelic Homologous Recombination

    Human Mutation

    Volume 35, Issue 2, February 2014, Pages: 215–226, Kathrin Bengesser, Julia Vogt, Tanja Mussotter, Victor-Felix Mautner, Ludwine Messiaen, David N. Cooper and Hildegard Kehrer-Sawatzki

    Version of Record online : 2 DEC 2013, DOI: 10.1002/humu.22473

  13. 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

  14. Transduction-Specific ATLAS Reveals a Cohort of Highly Active L1 Retrotransposons in Human Populations

    Human Mutation

    Volume 34, Issue 7, July 2013, Pages: 974–985, Catriona M. Macfarlane, Pamela Collier, Raheleh Rahbari, Christine R. Beck, John F. Wagstaff, Samantha Igoe, John V. Moran and Richard M. Badge

    Version of Record online : 23 APR 2013, DOI: 10.1002/humu.22327

  15. 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

  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

    Version of Record online : 28 MAY 2013, DOI: 10.1002/humu.22349

  17. 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

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    BRCA Share: A Collection of Clinical BRCA Gene Variants

    Human Mutation

    Volume 37, Issue 12, December 2016, Pages: 1318–1328, Christophe Béroud, Stanley I. Letovsky, Corey D. Braastad, Sandrine M. Caputo, Olivia Beaudoux, Yves Jean Bignon, Brigitte Bressac-De Paillerets, Myriam Bronner, Crystal M. Buell, Gwenaëlle Collod-Béroud, Florence Coulet, Nicolas Derive, Christina Divincenzo, Christopher D. Elzinga, Céline Garrec, Claude Houdayer, Izabela Karbassi, Sarab Lizard, Angela Love, Danièle Muller, Narasimhan Nagan, Camille R. Nery, Ghadi Rai, Françoise Revillion, David Salgado, Nicolas Sévenet, Olga Sinilnikova, Hagay Sobol, Dominique Stoppa-Lyonnet, Christine Toulas, Edwin Trautman, Dominique Vaur, Paul Vilquin, Katelyn S. Weymouth, Alecia Willis, Laboratory Corporation of America Variant Classification Group, Quest Diagnostics Variant Classification Group, UNICANCER Genetic Group BRCA Laboratory Network, Marcia Eisenberg and Charles M Strom

    Version of Record online : 28 SEP 2016, DOI: 10.1002/humu.23113

  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. Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation

    Human Mutation

    Volume 38, Issue 2, February 2017, Pages: 180–192, Daniel Nilsson, Maria Pettersson, Peter Gustavsson, Alisa Förster, Wolfgang Hofmeister, Josephine Wincent, Vasilios Zachariadis, Britt-Marie Anderlid, Ann Nordgren, Outi Mäkitie, Valtteri Wirta, Max Käller, Francesco Vezzi, James R Lupski, Magnus Nordenskjöld, Elisabeth Syk Lundberg, Claudia M. B. Carvalho and Anna Lindstrand

    Version of Record online : 5 DEC 2016, DOI: 10.1002/humu.23146