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There are 3802 results for: content related to: Phenotypic information in genomic variant databases enhances clinical care and research: The international standards for cytogenomic arrays consortium experience

  1. The Human Phenotype Ontology

    Clinical Genetics

    Volume 77, Issue 6, June 2010, Pages: 525–534, PN Robinson and S Mundlos

    Article first published online : 19 APR 2010, DOI: 10.1111/j.1399-0004.2010.01436.x

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    Diagnostic interpretation of array data using public databases and internet sources

    Human Mutation

    Volume 33, Issue 6, June 2012, Pages: 930–940, Nicole de Leeuw, Trijnie Dijkhuizen, Jayne Y. Hehir-Kwa, Nigel P. Carter, Lars Feuk, Helen V. Firth, Robert M. Kuhn, David H. Ledbetter, Christa Lese Martin, Conny M. A. van Ravenswaaij-Arts, Steven W. Scherer, Soheil Shams, Steven Van Vooren, Rolf Sijmons, Morris Swertz and Ros Hastings

    Article first published online : 7 MAY 2012, DOI: 10.1002/humu.22049

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    Ontological phenotype standards for neurogenetics

    Human Mutation

    Volume 33, Issue 9, September 2012, Pages: 1333–1339, Sebastian Köhler, Sandra C. Doelken, Ana Rath, Ségolène Aymé and Peter N. Robinson

    Article first published online : 2 JUL 2012, DOI: 10.1002/humu.22112

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    Towards a Universal Clinical Genomics Database: The 2012 International Standards for Cytogenomic Arrays Consortium Meeting

    Human Mutation

    Volume 34, Issue 6, June 2013, Pages: 915–919, Erin Rooney Riggs, Karen E. Wain, Darlene Riethmaier, Melissa Savage, Bethanny Smith-Packard, Erin B. Kaminsky, Heidi L. Rehm, Christa Lese Martin, David H. Ledbetter and W. Andrew Faucett

    Article first published online : 2 APR 2013, DOI: 10.1002/humu.22306

  5. Copper binding in IscA inhibits iron-sulphur cluster assembly in Escherichia coli

    Molecular Microbiology

    Volume 93, Issue 4, August 2014, Pages: 629–644, Guoqiang Tan, Zishuo Cheng, Yilin Pang, Aaron P. Landry, Jianghui Li, Jianxin Lu and Huangen Ding

    Article first published online : 8 JUL 2014, DOI: 10.1111/mmi.12676

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    Getting Ready for the Human Phenome Project: The 2012 Forum of the Human Variome Project

    Human Mutation

    Volume 34, Issue 4, April 2013, Pages: 661–666, William S. Oetting, Peter N. Robinson, Marc S. Greenblatt, Richard G. Cotton, Tim Beck, John C. Carey, Sandra C. Doelken, Marta Girdea, Tudor Groza, Carol M. Hamilton, Ada Hamosh, Berit Kerner, Jacqueline A. L. MacArthur, Donna R. Maglott, Barend Mons, Heidi L. Rehm, Paul N. Schofield, Beverly A. Searle, Damian Smedley, Cynthia L. Smith, Inge Thomsen Bernstein, Andreas Zankl and Eric Y. Zhao

    Article first published online : 20 MAR 2013, DOI: 10.1002/humu.22293

  7. PhenoTips: Patient Phenotyping Software for Clinical and Research Use

    Human Mutation

    Volume 34, Issue 8, August 2013, Pages: 1057–1065, Marta Girdea, Sergiu Dumitriu, Marc Fiume, Sarah Bowdin, Kym M. Boycott, Sébastien Chénier, David Chitayat, Hanna Faghfoury, M. Stephen Meyn, Peter N. Ray, Joyce So, Dimitri J. Stavropoulos and Michael Brudno

    Article first published online : 24 MAY 2013, DOI: 10.1002/humu.22347

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    In vivo [Fe-S] cluster acquisition by IscR and NsrR, two stress regulators in Escherichia coli

    Molecular Microbiology

    Volume 87, Issue 3, February 2013, Pages: 493–508, Daniel Vinella, Laurent Loiseau, Sandrine Ollagnier de Choudens, Marc Fontecave and Frédéric Barras

    Article first published online : 16 JAN 2013, DOI: 10.1111/mmi.12135

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    A dimer of the FeS cluster biosynthesis protein IscA from cyanobacteria binds a [2Fe2S] cluster between two protomers and transfers it to [2Fe2S] and [4Fe4S] apo proteins

    European Journal of Biochemistry

    Volume 270, Issue 8, April 2003, Pages: 1662–1671, Markus Wollenberg, Carsten Berndt, Eckhard Bill, Jens D. Schwenn and Andreas Seidler

    Article first published online : 26 MAR 2003, DOI: 10.1046/j.1432-1033.2003.03522.x

  10. Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders

    American Journal of Medical Genetics Part A

    Volume 155, Issue 10, October 2011, Pages: 2386–2396, Fady M. Mikhail, Edward J. Lose, Nathaniel H. Robin, Maria D. Descartes, Katherine D. Rutledge, S. Lane Rutledge, Bruce R. Korf and Andrew J. Carroll

    Article first published online : 16 AUG 2011, DOI: 10.1002/ajmg.a.34177

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    Human disease locus discovery and mapping to molecular pathways through phylogenetic profiling

    Molecular Systems Biology

    Volume 9, Issue 1, 2013, Yuval Tabach, Tamar Golan, Abrahan Hernández-Hernández, Arielle R Messer, Tomoyuki Fukuda, Anna Kouznetsova, Jian-Guo Liu, Ingrid Lilienthal, Carmit Levy and Gary Ruvkun

    Article first published online : 1 OCT 2013, DOI: 10.1038/msb.2013.50

  12. Chromosomal Imbalances in Patients with Congenital Cardiac Defects: A Meta-analysis Reveals Novel Potential Critical Regions Involved in Heart Development

    Congenital Heart Disease

    Volume 10, Issue 3, May/June 2015, Pages: 193–208, Thor Thorsson, William W. Russell, Nour El-Kashlan, Rachel Soemedi, Jonathan Levine, Sarah B. Geisler, Todd Ackley, Aoy Tomita-Mitchell, Jill A. Rosenfeld, Ana Töpf, Marwan Tayeh, Judith Goodship, Jeffrey W. Innis, Bernard Keavney and Mark W. Russell

    Article first published online : 11 APR 2014, DOI: 10.1111/chd.12179

  13. Chromosomal microarray impacts clinical management

    Clinical Genetics

    Volume 85, Issue 2, February 2014, Pages: 147–153, E.R. Riggs, K.E. Wain, D. Riethmaier, B. Smith-Packard, W.A. Faucett, N. Hoppman, E.C. Thorland, V.C. Patel and D.T. Miller

    Article first published online : 21 FEB 2013, DOI: 10.1111/cge.12107

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    Molecular organization, biochemical function, cellular role and evolution of NfuA, an atypical Fe-S carrier

    Molecular Microbiology

    Volume 86, Issue 1, October 2012, Pages: 155–171, Béatrice Py, Catherine Gerez, Sandra Angelini, Rémy Planel, Daniel Vinella, Laurent Loiseau, Emmanuel Talla, Céline Brochier-Armanet, Ricardo Garcia Serres, Jean-Marc Latour, Sandrine Ollagnier-de Choudens, Marc Fontecave and Frédéric Barras

    Article first published online : 12 SEP 2012, DOI: 10.1111/j.1365-2958.2012.08181.x

  15. Iron–Sulfur Cluster Biogenesis in Archaea and Bacteria

    Standard Article

    Encyclopedia of Inorganic and Bioinorganic Chemistry

    Harsimranjit K. Chahal, Jeff M. Boyd and F. Wayne Outten

    Published Online : 5 DEC 2013, DOI: 10.1002/9781119951438.eibc2149

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    Poster Abstracts of the ISPD 19th International Conference on Prenatal Diagnosis and Therapy, Washington, DC, USA, 12–15 July 2015

    Prenatal Diagnosis

    Volume 35, Issue S1, July 2015, Pages: 27–109,

    Article first published online : 25 JUN 2015, DOI: 10.1002/pd.4617

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    Hydrogen peroxide inactivates the Escherichia coli Isc iron-sulphur assembly system, and OxyR induces the Suf system to compensate

    Molecular Microbiology

    Volume 78, Issue 6, December 2010, Pages: 1448–1467, Soojin Jang and James A. Imlay

    Article first published online : 29 OCT 2010, DOI: 10.1111/j.1365-2958.2010.07418.x

  18. GeneYenta: A Phenotype­Based Rare Disease Case Matching Tool Based on Online Dating Algorithms for the Acceleration of Exome Interpretation

    Human Mutation

    Volume 36, Issue 4, April 2015, Pages: 432–438, Michael M. Gottlieb, David J. Arenillas, Savanie Maithripala, Zachary D. Maurer, Maja Tarailo­Graovac, Linlea Armstrong, Millan Patel, Clara van Karnebeek and Wyeth W. Wasserman

    Article first published online : 19 MAR 2015, DOI: 10.1002/humu.22772

  19. New Tools for Mendelian Disease Gene Identification: PhenoDB Variant Analysis Module; and GeneMatcher, a Web-Based Tool for Linking Investigators with an Interest in the Same Gene

    Human Mutation

    Volume 36, Issue 4, April 2015, Pages: 425–431, Nara Sobreira, François Schiettecatte, Corinne Boehm, David Valle and Ada Hamosh

    Article first published online : 31 MAR 2015, DOI: 10.1002/humu.22769

  20. Towards an evidence-based process for the clinical interpretation of copy number variation

    Clinical Genetics

    Volume 81, Issue 5, May 2012, Pages: 403–412, ER Riggs, DM Church, K Hanson, VL Horner, EB Kaminsky, RM Kuhn, KE Wain, ES Williams, S Aradhya, HM Kearney, DH Ledbetter, ST South, EC Thorland and CL Martin

    Article first published online : 13 DEC 2011, DOI: 10.1111/j.1399-0004.2011.01818.x