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There are 115325 results for: content related to: Petty–Laxova–Wiedemann progeroid syndrome: Further phenotypical delineation and confirmation of a rare syndrome of premature aging

  1. 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

  2. You have free access to this content
    Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype

    American Journal of Medical Genetics Part A

    Volume 161, Issue 12, December 2013, Pages: 3057–3062, Toshiki Takenouchi, Mariko Hida, Yoshiaki Sakamoto, Chiharu Torii, Rika Kosaki, Takao Takahashi and Kenjiro Kosaki

    Article first published online : 16 AUG 2013, DOI: 10.1002/ajmg.a.36157

  3. 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

  4. Follow-up study of Wiedemann-Rautenstrauch syndrome: Long-term survival and comparison with Rautenstrauch's patient “G”

    Birth Defects Research Part A: Clinical and Molecular Teratology

    Volume 73, Issue 8, August 2005, Pages: 562–568, Humberto Arboleda and Gonzalo Arboleda

    Article first published online : 8 JUL 2005, DOI: 10.1002/bdra.20166

  5. Neonatal progeroid (Wiedemann-Rautenstrauch) syndrome: Report of five new cases and review

    American Journal of Medical Genetics

    Volume 90, Issue 2, 17 January 2000, Pages: 131–140, Enikö K. Pivnick, Brad Angle, Robert A. Kaufman, Bryan D. Hall, Pisit Pitukcheewanont, Joseph H. Hersh, John L. Fowlkes, Lynda P. Sanders, John M. O'Brien, Gregory S. Carroll, Wendy M. Gunther, Helen G. Morrow, George A. Burghen and Jewell C. Ward

    Article first published online : 3 MAR 2000, DOI: 10.1002/(SICI)1096-8628(20000117)90:2<131::AID-AJMG9>3.0.CO;2-E

  6. 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

  7. 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

  8. Cutis Laxa and Premature Aging Syndromes

    Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects, Second Edition

    Jeffrey M. Davidson, MariaGabriella Giro, Pages: 525–560, 2003

    Published Online : 30 APR 2003, DOI: 10.1002/0471221929.ch10

  9. 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

  10. 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

  11. Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 4, April 2009, Pages: 567–572, Elizabeth McPherson, Lesley Turner, Ivan Zador, Kara Reynolds, David Macgregor and Philip F. Giampietro

    Article first published online : 12 MAR 2009, DOI: 10.1002/ajmg.a.32627

  12. 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

    Article first published online : 26 FEB 2009, DOI: 10.1002/ajmg.a.32702

  13. Neonatal progeroid syndrome: More than one disease?

    American Journal of Medical Genetics

    Volume 35, Issue 1, January 1990, Pages: 91–94, James I. Hagadorn, William G. Wilson, W. Allen Hogge, Joseph H. Callicott and Ernest F. Beale

    Article first published online : 5 JUN 2005, DOI: 10.1002/ajmg.1320350117

  14. Mandibuloacral dysplasia type A in childhood

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 10, October 2009, Pages: 2258–2264, L. Garavelli, M.R. D'Apice, F. Rivieri, M. Bertoli, A. Wischmeijer, C. Gelmini, V. De Nigris, E. Albertini, S. Rosato, R. Virdis, E. Bacchini, R. Dal Zotto, G. Banchini, L. Iughetti, S. Bernasconi, A. Superti-Furga and G. Novelli

    Article first published online : 16 SEP 2009, DOI: 10.1002/ajmg.a.33005

  15. 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

  16. Atypical progeroid syndrome: An unknown helicase gene defect?

    American Journal of Medical Genetics Part A

    Volume 116A, Issue 3, 30 January 2003, Pages: 295–299, M.W.G. Ruijs, R.N.J. van Andel, J. Oshima, K. Madan, A.W.M. Nieuwint and C.M. Aalfs

    Article first published online : 19 SEP 2002, DOI: 10.1002/ajmg.a.10730

  17. Clinical manifestation of a severe neonatal progeroid syndrome

    Clinical Genetics

    Volume 51, Issue 3, March 1997, Pages: 200–204, André Mégarbané and Jacques Loiselet

    Article first published online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1997.tb02453.x

  18. A progeroid syndrome with neonatal presentation and long survival maps to 19p13.3p13.2

    Birth Defects Research Part A: Clinical and Molecular Teratology

    Volume 97, Issue 7, July 2013, Pages: 456–462, Nadia Akawi, Bassam Ali and Lihadh Al Gazali

    Article first published online : 20 MAY 2013, DOI: 10.1002/bdra.23136

  19. Cutis Laxa Type II with Mutation in the Pyrroline-5-Carboxylate Reductase 1 Gene

    Pediatric Dermatology

    Volume 30, Issue 6, November/December 2013, Pages: e265–e267, Nayereh Nouri, Omid Aryani, Narges Nouri, Behnam Kamalidehghan and Massoud Houshmand

    Article first published online : 14 FEB 2013, DOI: 10.1111/pde.12065

  20. Lethal neonatal Hutchinson-Gilford progeria syndrome

    American Journal of Medical Genetics

    Volume 82, Issue 3, 29 January 1999, Pages: 242–248, José I. Rodríguez, Pablo Pérez-Alonso, Rosa Funes and Jesús Pérez-Rodríguez

    Article first published online : 29 JAN 1999, DOI: 10.1002/(SICI)1096-8628(19990129)82:3<242::AID-AJMG9>3.0.CO;2-E