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There are 2054 results for: content related to: An inherited LMNA gene mutation in atypical Progeria syndrome

  1. 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

  2. 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

  3. 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

  4. 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

    Article first published online : 12 JUL 2006, DOI: 10.1002/ajmg.a.31346

  5. 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

  6. 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

  7. 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

  8. 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

    Article first published online : 24 JAN 2014, DOI: 10.1111/acel.12173

  9. Hutchinson–Gilford progeria syndrome

    Clinical Genetics

    Volume 66, Issue 5, November 2004, Pages: 375–381, RL Pollex and RA Hegele

    Article first published online : 16 AUG 2004, DOI: 10.1111/j.1399-0004.2004.00315.x

  10. Body fat distribution and metabolic variables in patients with neonatal progeroid syndrome

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 13, 1 July 2007, Pages: 1421–1430, Brendan O'Neill, Vinaya Simha, Vani Kotha and Abhimanyu Garg

    Article first published online : 23 MAY 2007, DOI: 10.1002/ajmg.a.31840

  11. First Japanese case of atypical progeroid syndrome/atypical Werner syndrome with heterozygous LMNA mutation

    The Journal of Dermatology

    Volume 41, Issue 12, December 2014, Pages: 1047–1052, Sei-ichiro Motegi, Yoko Yokoyama, Akihiko Uchiyama, Sachiko Ogino, Yuko Takeuchi, Kazuya Yamada, Tomoyasu Hattori, Hiroaki Hashizume, Yuichi Ishikawa, Makoto Goto and Osamu Ishikawa

    Article first published online : 19 OCT 2014, DOI: 10.1111/1346-8138.12657

  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

    Article first published online : 14 MAY 2012, DOI: 10.1002/ajmg.a.35336

  13. Hutchinson–Gilford progeria syndrome with scleroderma-like skin changes due to a homozygous missense LMNA mutation

    Journal of the European Academy of Dermatology and Venereology

    S. Zhang, K. Zhang, M. Jiang and J. Zhao

    Article first published online : 4 NOV 2014, DOI: 10.1111/jdv.12840

  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

    Article first published online : 24 NOV 2009, DOI: 10.1002/ajmg.a.33090

  15. 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

  16. The laminopathies: a clinical review

    Clinical Genetics

    Volume 70, Issue 4, October 2006, Pages: 261–274, J Rankin and S Ellard

    Article first published online : 17 AUG 2006, DOI: 10.1111/j.1399-0004.2006.00677.x

    Corrected by:

    Corrigendum

    Vol. 71, Issue 3, 293, Article first published online: 19 FEB 2007

  17. Petty–Laxova–Wiedemann progeroid syndrome: Further phenotypical delineation and confirmation of a rare syndrome of premature aging

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 10, October 2009, Pages: 2200–2205, Wilmer Noé Delgado-Luengo, Elizabeth M. Petty, Ernesto Solís-Añez, Orlando Römel, Juana Delgado-Luengo, María Luisa Hernández, Alisandra Morales-Machín, Lisbeth Borjas-Fuentes, William Zabala-Fernández, Sandra González-Ferrer, Lennie Pineda-Bernal, Tatiana Pardo-Govea, María Caridad Martínez-Basalo, Richard González, Karelis Urdaneta, Jenny Cañizales and Herminia Fleitas-Cabello

    Article first published online : 1 SEP 2009, DOI: 10.1002/ajmg.a.32884

  18. Overview of Acquired and Genetic Lipodystrophies

    Adipose Tissue in Health and Disease

    Tisha Joy, Robert A. Hegele, Pages: 385–402, 2010

    Published Online : 16 APR 2010, DOI: 10.1002/9783527629527.ch20

  19. 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

    Article first published online : 7 NOV 2011, DOI: 10.1002/ajmg.a.34336

  20. Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 12, 15 June 2008, Pages: 1530–1542, Julia Rankin, Michaela Auer-Grumbach, Warwick Bagg, Kevin Colclough, Nguyen Thuy Duong, Jane Fenton-May, Andrew Hattersley, Judith Hudson, Philip Jardine, Dragana Josifova, Cheryl Longman, Robert McWilliam, Katharine Owen, Mark Walker, Manfred Wehnert and Sian Ellard

    Article first published online : 13 MAY 2008, DOI: 10.1002/ajmg.a.32331