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There are 3537 results for: content related to: Embryonic expression of the common progeroid lamin A splice mutation arrests postnatal skin development

  1. POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome

    Human Mutation

    Volume 36, Issue 11, November 2015, Pages: 1070–1079, Davor Lessel, Fuki M. Hisama, Katalin Szakszon, Bidisha Saha, Alexander Barrios Sanjuanelo, Bonnie A. Salbert, Pamela D. Steele, Jennifer Baldwin, W. Ted Brown, Charles Piussan, Henri Plauchu, Judit Szilvássy, Edit Horkay, Josef Högel, George M. Martin, Alan J. Herr, Junko Oshima and Christian Kubisch

    Version of Record online : 6 AUG 2015, DOI: 10.1002/humu.22833

  2. 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

  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

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

  4. 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

  5. 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

    Version of Record online : 19 OCT 2014, DOI: 10.1111/1346-8138.12657

  6. 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

    Version of Record online : 23 MAY 2007, DOI: 10.1002/ajmg.a.31840

  7. 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

    Version of Record online : 14 NOV 2011, DOI: 10.1002/path.2999

  8. Genetics of Human Laminopathies

    Standard Article

    eLS

    Giuseppe Novelli and Maria Rosaria D'Apice

    Published Online : 16 JAN 2017, DOI: 10.1002/9780470015902.a0024693

  9. 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

  10. 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

  11. 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

    Version of Record online : 1 SEP 2009, DOI: 10.1002/ajmg.a.32884

  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. 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

  14. A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers–Danlos syndrome resembling the progeroid type

    American Journal of Medical Genetics Part A

    Volume 128A, Issue 1, 1 July 2004, Pages: 39–45, Muhammad Faiyaz-Ul-Haque, Syed Hassan Ejaz Zaidi, Mariam Al-Ali, Mariam S. Al-Mureikhi, Shelley Kennedy, Ghalia Al-Thani, Lap-Chee Tsui and Ahmad Said Teebi

    Version of Record online : 23 MAR 2004, DOI: 10.1002/ajmg.a.30005

  15. Genomic diagnosis by whole genome sequencing in a Korean family with atypical progeroid syndrome

    The Journal of Dermatology

    Volume 42, Issue 12, December 2015, Pages: 1149–1152, Seungbok Lee, Sae Mi Park, Hyun Ji Kim, Jin-Wou Kim, Dong Soo Yu and Young Bok Lee

    Version of Record online : 29 JUN 2015, DOI: 10.1111/1346-8138.13005

  16. 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

    Version of Record online : 16 AUG 2013, DOI: 10.1002/ajmg.a.36157

  17. 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

    Version of Record online : 20 MAY 2013, DOI: 10.1002/bdra.23136

  18. 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

    Volume 82, Issue 5, November 2016, Pages: 1229–1244, Camilla Evangelisti, Vittoria Cenni and Giovanna Lattanzi

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

  19. Genetic Disorders of Collagen, Elastin and Dermal Matrix

    Standard Article

    Rook's Textbook of Dermatology, Ninth Edition

    Nigel Burrows

    Published Online : 9 OCT 2016, DOI: 10.1002/9781118441213.rtd0073

  20. You have full text access to this Open Access content
    Nuclear envelope alterations generate an aging-like epigenetic pattern in mice deficient in Zmpste24 metalloprotease

    Aging Cell

    Volume 9, Issue 6, December 2010, Pages: 947–957, Fernando G. Osorio, Ignacio Varela, Ester Lara, Xose S. Puente, Jesús Espada, Raffaella Santoro, José M. P. Freije, Mario F. Fraga and Carlos López-Otín

    Version of Record online : 21 OCT 2010, DOI: 10.1111/j.1474-9726.2010.00621.x