Search Results

There are 3541 results for: content related to: Hutchinson–Gilford progeria syndrome: Review of the phenotype

  1. You have full text access to this OnlineOpen article
    Sulforaphane enhances progerin clearance in Hutchinson–Gilford progeria fibroblasts

    Aging Cell

    Volume 14, Issue 1, February 2015, Pages: 78–91, Diana Gabriel, Daniela Roedl, Leslie B. Gordon and Karima Djabali

    Article first published online : 16 DEC 2014, DOI: 10.1111/acel.12300

  2. You have full text access to this OnlineOpen article
    LMNA-associated cardiocutaneous progeria: An inherited autosomal dominant premature aging syndrome with late onset

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1599–1611, Megan S. Kane, Mark E. Lindsay, Daniel P. Judge, Jemima Barrowman, Colette Ap Rhys, Lisa Simonson, Harry C. Dietz and Susan Michaelis

    Article first published online : 10 MAY 2013, DOI: 10.1002/ajmg.a.35971

  3. Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes

    Human Mutation

    Volume 28, Issue 9, September 2007, Pages: 882–889, Casey L. Moulson, Loren G. Fong, Jennifer M. Gardner, Emily A. Farber, Gloriosa Go, Annalisa Passariello, Dorothy K. Grange, Stephen G. Young and Jeffrey H. Miner

    Article first published online : 27 APR 2007, DOI: 10.1002/humu.20536

  4. You have free access to this content
    Nuclear lamins and laminopathies

    The Journal of Pathology

    Volume 226, Issue 2, January 2012, Pages: 316–325, Howard J. Worman

    Article first published online : 14 NOV 2011, DOI: 10.1002/path.2999

  5. You have free access to this content
    Speeding up the clock: The past, present and future of progeria

    Development, Growth & Differentiation

    Volume 58, Issue 1, January 2016, Pages: 116–130, Vijay Swahari and Ayumi Nakamura

    Article first published online : 21 DEC 2015, DOI: 10.1111/dgd.12251

  6. An inherited LMNA gene mutation in atypical Progeria syndrome

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 11, November 2012, Pages: 2881–2887, Yassamine Doubaj, Annachiara De Sandre-Giovannoli, Esteves-Vieira Vera, Claire Laure Navarro, Siham Chafai Elalaoui, Mariam Tajir, Nicolas Lévy and Abdelaziz Sefiani

    Article first published online : 18 SEP 2012, DOI: 10.1002/ajmg.a.35557

  7. Premature Ageing Syndromes

    Harper's Textbook of Pediatric Dermatology, Volume 1, 2, Third Edition

    Alan D. Irvine, Peter H. Hoeger, Albert C. Yan, Pages: 134.1–134.19, 2011

    Published Online : 24 MAY 2011, DOI: 10.1002/9781444345384.ch134

  8. You have full text access to this Open Access content
    Stem cell depletion in Hutchinson–Gilford progeria syndrome

    Aging Cell

    Volume 10, Issue 6, December 2011, Pages: 1011–1020, Ylva Rosengardten, Tomás McKenna, Diana Grochová and Maria Eriksson

    Article first published online : 11 OCT 2011, DOI: 10.1111/j.1474-9726.2011.00743.x

  9. Progeria: report of a case and review of the literature

    Journal of Oral Pathology & Medicine

    Volume 20, Issue 2, February 1991, Pages: 86–88, Qin-Xi Yu and Ling-Hua Zeng

    Article first published online : 28 APR 2006, DOI: 10.1111/j.1600-0714.1991.tb00895.x

  10. An association of Hutchinson–Gilford progeria and malignancy

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 16, 15 August 2007, Pages: 1821–1826, Stavit A. Shalev, Annachiara De Sandre-Giovannoli, Ayelet Adir Shani and Nicolas Levy

    Article first published online : 6 JUL 2007, DOI: 10.1002/ajmg.a.31803

  11. Progeria: Autopsy Report of One Case, with a Review of Pathologic Findings Reported in the Literature

    Journal of the American Geriatrics Society

    Volume 24, Issue 5, May 1976, Pages: 193–202, TOSHIHARU ISHII

    Article first published online : 27 APR 2015, DOI: 10.1111/j.1532-5415.1976.tb06779.x

  12. You have full text access to this Open Access content
    Hutchinson–Gilford progeria syndrome through the lens of transcription

    Aging Cell

    Volume 12, Issue 4, August 2013, Pages: 533–543, Miron Prokocimer, Rachel Barkan and Yosef Gruenbaum

    Article first published online : 19 APR 2013, DOI: 10.1111/acel.12070

  13. Association of homozygous LMNA mutation R471C with new phenotype: Mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 8, 15 April 2008, Pages: 1049–1054, Birgit Zirn, Wolfram Kress, Tiemo Grimm, Lars Daniel Berthold, Bernd Neubauer, Klaus Kuchelmeister, Ulrich Müller and Andreas Hahn

    Article first published online : 17 MAR 2008, DOI: 10.1002/ajmg.a.32259

  14. You have free access to this content
    Hutchinson-gilford progeria is a skeletal dysplasia

    Journal of Bone and Mineral Research

    Volume 26, Issue 7, July 2011, Pages: 1670–1679, Catherine M Gordon, Leslie B Gordon, Brian D Snyder, Ara Nazarian, Nicolle Quinn, Susanna Huh, Anita Giobbie-Hurder, Donna Neuberg, Robert Cleveland, Monica Kleinman, David T Miller and Mark W Kieran

    Article first published online : 21 JUN 2011, DOI: 10.1002/jbmr.392

  15. Progeria with cardiac hypertrophy and review of 12 autopsy cases in the literature

    Pathology International

    Volume 34, Issue 4, July 1984, Pages: 797–811, Takeshi Shozawa, Masato Sageshima and Eikichi Okada

    Article first published online : 20 JAN 2011, DOI: 10.1111/j.1440-1827.1984.tb07608.x

  16. You have full text access to this Open Access content
    Nuclear lamins: key regulators of nuclear structure and activities

    Journal of Cellular and Molecular Medicine

    Volume 13, Issue 6, June 2009, Pages: 1059–1085, Miron Prokocimer, Maya Davidovich, Malka Nissim-Rafinia, Naama Wiesel-Motiuk, Daniel Z. Bar, Rachel Barkan, Eran Meshorer and Yosef Gruenbaum

    Article first published online : 1 JUL 2009, DOI: 10.1111/j.1582-4934.2008.00676.x

  17. Hutchinson–Gilford Progeria Syndrome Caused by an LMNA Mutation: A Case Report

    Pediatric Dermatology

    Volume 32, Issue 2, March/April 2015, Pages: 271–275, Yan Chu, Zi-Gang Xu, Zhe Xu and Lin Ma

    Article first published online : 29 DEC 2014, DOI: 10.1111/pde.12406

  18. Enhanced SRSF5 Protein Expression Reinforces Lamin A mRNA Production in HeLa Cells and Fibroblasts of Progeria Patients

    Human Mutation

    Volume 37, Issue 3, March 2016, Pages: 280–291, Valentin Vautrot, Christelle Aigueperse, Florence Oillo-Blanloeil, Sébastien Hupont, James Stevenin, Christiane Branlant and Isabelle Behm-Ansmant

    Article first published online : 12 JAN 2016, DOI: 10.1002/humu.22945

  19. A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS

    Human Mutation

    Volume 27, Issue 6, June 2006, Pages: 524–531, Jonas Denecke, Thomas Brune, Tobias Feldhaus, Horst Robenek, Christian Kranz, Richard J. Auchus, Anil K. Agarwal and Thorsten Marquardt

    Article first published online : 2 MAY 2006, DOI: 10.1002/humu.20315

  20. Progeroid syndrome with scleroderma-like skin changes associated with homozygous R435C LMNA mutation

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 11, November 2009, Pages: 2387–2392, Agnieszka Madej-Pilarczyk, Danuta Rosińska-Borkowska, Joanna Rękawek, Michał Marchel, Ewa Szaluś, Stefania Jabłońska and Irena Hausmanowa-Petrusewicz

    Article first published online : 19 OCT 2009, DOI: 10.1002/ajmg.a.33018