Literature DB >> 18070020

Late manifestation of dyskeratosis congenita presenting as chronic dermal ulcer in a 37-year-old man.

C Reimann, B Kloeckener-Gruissem, C M Niemeyer, W Vanscheidt.   

Abstract

Entities:  

Mesh：

Year:  2007        PMID： 18070020     DOI： 10.1111/j.1468-3083.2007.02530.x

Source DB:  PubMed          Journal:  J Eur Acad Dermatol Venereol        ISSN： 0926-9959            Impact factor:   6.166


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  6 in total

Review 1.  Genetic predisposition syndromes: when should they be considered in the work-up of MDS?

Authors:  Daria V Babushok; Monica Bessler
Journal:  Best Pract Res Clin Haematol       Date:  2014-11-12       Impact factor: 3.020

2.  Lung transplantation for pulmonary fibrosis in dyskeratosis congenita: Case Report and systematic literature review.

Authors:  Neelam Giri; Rees Lee; Albert Faro; Charles B Huddleston; Frances V White; Blanche P Alter; Sharon A Savage
Journal:  BMC Blood Disord       Date:  2011-06-15

Review 3.  The role of telomeres in the ageing of human skin.

Authors:  Erin M Buckingham; Aloysius J Klingelhutz
Journal:  Exp Dermatol       Date:  2011-03-03       Impact factor: 3.960

4.  Proliferative defects in dyskeratosis congenita skin keratinocytes are corrected by expression of the telomerase reverse transcriptase, TERT, or by activation of endogenous telomerase through expression of papillomavirus E6/E7 or the telomerase RNA component, TERC.

Authors:  Francoise A Gourronc; mckaylee M Robertson; Annie K Herrig; Peter M Lansdorp; Frederick D Goldman; Aloysius J Klingelhutz
Journal:  Exp Dermatol       Date:  2009-06-23       Impact factor: 3.960

Review 5.  Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability.

Authors:  Moisés Ó Fiesco-Roa; Benilde García-de Teresa; Paula Leal-Anaya; Renée van 't Hek; Talia Wegman-Ostrosky; Sara Frías; Alfredo Rodríguez
Journal:  Front Oncol       Date:  2022-08-25       Impact factor: 5.738

Review 6.  Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita.

Authors:  Michele Callea; Diego Martinelli; Francisco Cammarata-Scalisi; Chiara Grimaldi; Houweyda Jilani; Piercesare Grimaldi; Colin Eric Willoughby; Antonino Morabito
Journal:  Genes (Basel)       Date:  2022-03-11       Impact factor: 4.096
  6 in total

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