Search Results

There are 19785 results for: content related to: Néstor–Guillermo progeria syndrome: A novel premature aging condition with early onset and chronic development caused by BANF1 mutations

  1. 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

    Version of Record online : 18 SEP 2012, DOI: 10.1002/ajmg.a.35557

  2. Hutchinson–Gilford progeria syndrome: Review of the phenotype

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 23, 1 December 2006, Pages: 2603–2624, Raoul C.M. Hennekam

    Version of Record online : 12 JUL 2006, DOI: 10.1002/ajmg.a.31346

  3. 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

    Version of Record online : 10 MAY 2013, DOI: 10.1002/ajmg.a.35971

  4. 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

    Version of Record online : 16 DEC 2014, DOI: 10.1111/acel.12300

  5. 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

    Version of Record online : 6 JUL 2007, DOI: 10.1002/ajmg.a.31803

  6. 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

    Version of Record online : 21 DEC 2015, DOI: 10.1111/dgd.12251

  7. 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

    Version of Record online : 19 OCT 2009, DOI: 10.1002/ajmg.a.33018

  8. 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

    Version of Record online : 17 MAR 2008, DOI: 10.1002/ajmg.a.32259

  9. 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

    Version of Record online : 21 JUN 2011, DOI: 10.1002/jbmr.392

  10. Laminopathies, other progeroid disorders, and aging: Common pathogenic themes and possible treatments

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 4, April 2009, Pages: 563–566, Edward G. Neilan

    Version of Record online : 26 FEB 2009, DOI: 10.1002/ajmg.a.32702

  11. 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

    Version of Record online : 27 APR 2007, DOI: 10.1002/humu.20536

  12. Wiedemann–Rautenstrauch syndrome: Report of a variant case

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 6, June 2012, Pages: 1434–1436, Aslihan Kiraz, Samim Ozen, Filiz Tubas, Yusuf Usta, Ozgur Aldemir and Yasemin Alanay

    Version of Record online : 14 MAY 2012, DOI: 10.1002/ajmg.a.35336

  13. Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A

    American Journal of Medical Genetics Part A

    Volume 155, Issue 12, December 2011, Pages: 3002–3006, Fuki M. Hisama, Davor Lessel, Dru Leistritz, Katrin Friedrich, Kim L. McBride, Matthew T. Pastore, Gary S. Gottesman, Bidisha Saha, George M. Martin, Christian Kubisch and Junko Oshima

    Version of Record online : 7 NOV 2011, DOI: 10.1002/ajmg.a.34336

  14. Absence of Lamin A/C gene mutations in four Wiedemann–Rautenstrauch syndrome patients

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 12, December 2009, Pages: 2695–2699, Luis C. Morales, Gonzalo Arboleda, Yeldy Rodríguez, Diego A. Forero, Nelson Ramírez, Juan J. Yunis and Humberto Arboleda

    Version of Record online : 24 NOV 2009, DOI: 10.1002/ajmg.a.33090

  15. You have free access to this content
    Young Spanish researcher wins Opitz award

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 10, October 2012, Pages: vii–viii,

    Version of Record online : 19 SEP 2012, DOI: 10.1002/ajmg.a.35675

  16. You have free access to this content
    N6-isopentenyladenosine improves nuclear shape in fibroblasts from humans with progeroid syndromes by inhibiting the farnesylation of prelamin A

    The FEBS Journal

    Volume 280, Issue 23, December 2013, Pages: 6223–6232, Maurizio Bifulco, Alba D'Alessandro, Simona Paladino, Anna M. Malfitano, Maria Notarnicola, Maria G. Caruso and Chiara Laezza

    Version of Record online : 18 NOV 2013, DOI: 10.1111/febs.12544

  17. Petty syndrome and Fontaine–Farriaux syndrome: Delineation of a single syndrome

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 7, July 2010, Pages: 1718–1723, Stephen R. Braddock, Holly H. Ardinger, Chun-Song Yang, Bryce M. Paschal and Bryan D. Hall

    Version of Record online : 25 JUN 2010, DOI: 10.1002/ajmg.a.33468

  18. You have full text access to this OnlineOpen article
    Embryonic expression of the common progeroid lamin A splice mutation arrests postnatal skin development

    Aging Cell

    Volume 13, Issue 2, April 2014, Pages: 292–302, Tomás McKenna, Ylva Rosengardten, Nikenza Viceconte, Jean-Ha Baek, Diana Grochová and Maria Eriksson

    Version of Record online : 24 JAN 2014, DOI: 10.1111/acel.12173

  19. You have full text access to this OnlineOpen article
    Potential therapeutic effects of the MTOR inhibitors for preventing ageing and progeria-related disorders

    British Journal of Clinical Pharmacology

    Camilla Evangelisti, Vittoria Cenni and Giovanna Lattanzi

    Version of Record online : 18 MAY 2016, DOI: 10.1111/bcp.12928

  20. 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

    Version of Record online : 1 JUL 2009, DOI: 10.1111/j.1582-4934.2008.00676.x