Literature DB >> 18460650

Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations.

Lina Basel-Vanagaite, Inderjeet Dokal, Hannah Tamary, Abraham Avigdor, Ben Zion Garty, Alexander Volkov, Tom Vulliamy.   

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Year:  2008        PMID： 18460650     DOI： 10.3324/haematol.12317

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


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  21 in total

Review 1.  Telomeres and mitochondria in the aging heart.

Authors:  Javid Moslehi; Ronald A DePinho; Ergün Sahin
Journal:  Circ Res       Date:  2012-04-27       Impact factor: 17.367

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

3.  Novel variants in Nordic patients referred for genetic testing of telomere-related disorders.

Authors:  Anna Norberg; Anna Rosén; Klas Raaschou-Jensen; Lars Kjeldsen; Jukka S Moilanen; Ylva Paulsson-Karlsson; Panagiotis Baliakas; Olli Lohi; Aymen Ahmed; Astrid O Kittang; Pär Larsson; Göran Roos; Sofie Degerman; Magnus Hultdin
Journal:  Eur J Hum Genet       Date:  2018-02-26       Impact factor: 4.246

4.  Functional characterization of mutations in the promoter proximal region of the telomerase hTERC gene identified in patients with hematological disorders.

Authors:  Kathryn A Carroll; Hinh Ly
Journal:  Int J Clin Exp Med       Date:  2011-09-15

Review 5.  Telomerase at the intersection of cancer and aging.

Authors:  Bruno Bernardes de Jesus; Maria A Blasco
Journal:  Trends Genet       Date:  2013-07-19       Impact factor: 11.639

6.  Telomere dysfunction in human diseases: the long and short of it!

Authors:  Kathryn A Carroll; Hinh Ly
Journal:  Int J Clin Exp Pathol       Date:  2009-05-10

7.  Genetic and environmental factors influencing human diseases with telomere dysfunction.

Authors:  Hinh Ly
Journal:  Int J Clin Exp Med       Date:  2009-05-31

Review 8.  Axis of ageing: telomeres, p53 and mitochondria.

Authors:  Ergün Sahin; Ronald A DePinho
Journal:  Nat Rev Mol Cell Biol       Date:  2012-05-16       Impact factor: 94.444

9.  Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene.

Authors:  Jonathan K Alder; Erin M Parry; Srinivasan Yegnasubramanian; Christa L Wagner; Lawrence M Lieblich; Robert Auerbach; Arleen D Auerbach; Sarah J Wheelan; Mary Armanios
Journal:  Hum Mutat       Date:  2013-09-11       Impact factor: 4.878

10.  Triallelic and epigenetic-like inheritance in human disorders of telomerase.

Authors:  Laura C Collopy; Amanda J Walne; Shirleny Cardoso; Josu de la Fuente; Mahfuzah Mohamed; Helga Toriello; Hannah Tamary; Adam J Y V Ling; Timothy Lloyd; Rebecca Kassam; Hemanth Tummala; Thomas J Vulliamy; Inderjeet Dokal
Journal:  Blood       Date:  2015-05-29       Impact factor: 22.113
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