Literature DB >> 21610750

Clinical utility gene card for: dyskeratosis congenita.

Inderjeet Dokal1, Tom Vulliamy, Philip Mason, Monica Bessler.   

Abstract

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Year:  2011        PMID： 21610750      PMCID： PMC3198148          DOI： 10.1038/ejhg.2011.90

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  9 in total

1.  Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation.

Authors:  Tom J Vulliamy; Anna Marrone; Stuart W Knight; Amanda Walne; Philip J Mason; Inderjeet Dokal
Journal:  Blood       Date:  2005-12-06       Impact factor: 22.113

2.  TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements.

Authors:  Hong-Yan Du; Elena Pumbo; Jennifer Ivanovich; Ping An; Richard T Maziarz; Ulrike M Reiss; Deborah Chirnomas; Akiko Shimamura; Adrianna Vlachos; Jeffrey M Lipton; Rakesh K Goyal; Frederick Goldman; David B Wilson; Philip J Mason; Monica Bessler
Journal:  Blood       Date:  2008-10-17       Impact factor: 22.113

3.  Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita.

Authors:  T J Vulliamy; S W Knight; P J Mason; I Dokal
Journal:  Blood Cells Mol Dis       Date:  2001 Mar-Apr       Impact factor: 3.039

Review 4.  Telomere diseases.

Authors:  Rodrigo T Calado; Neal S Young
Journal:  N Engl J Med       Date:  2009-12-10       Impact factor: 91.245

5.  Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA.

Authors:  Patrick F Fogarty; Hiroki Yamaguchi; Adrian Wiestner; Gabriela M Baerlocher; Elaine Sloand; Weihua S Zeng; Elizabeth J Read; Peter M Lansdorp; Neal S Young
Journal:  Lancet       Date:  2003-11-15       Impact factor: 79.321

6.  Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita.

Authors:  Blanche P Alter; Gabriela M Baerlocher; Sharon A Savage; Stephen J Chanock; Babette B Weksler; Judith P Willner; June A Peters; Neelam Giri; Peter M Lansdorp
Journal:  Blood       Date:  2007-04-27       Impact factor: 22.113

Review 7.  Advances in the understanding of dyskeratosis congenita.

Authors:  Amanda J Walne; Inderjeet Dokal
Journal:  Br J Haematol       Date:  2009-02-04       Impact factor: 6.998

8.  Dyskeratosis congenita.

Authors:  Monica Bessler; David B Wilson; Philip J Mason
Journal:  FEBS Lett       Date:  2010-05-21       Impact factor: 4.124

9.  Dyskeratosis congenita: the first NIH clinical research workshop.

Authors:  Sharon A Savage; Inderjeet Dokal; Mary Armanios; Geraldine Aubert; Edward W Cowen; Demetrio L Domingo; Neelam Giri; Mark H Greene; Paul J Orchard; Jakub Tolar; Ekaterini Tsilou; Carter Van Waes; Judy M Y Wong; Neal S Young; Blanche P Alter
Journal:  Pediatr Blood Cancer       Date:  2009-09       Impact factor: 3.167
  9 in total
  12 in total

Review 1.  The genetics of dyskeratosis congenita.

Authors:  Philip J Mason; Monica Bessler
Journal:  Cancer Genet       Date:  2011-12

2.  CTC1 Mutations in a patient with dyskeratosis congenita.

Authors:  Rachel B Keller; Katelyn E Gagne; G Naheed Usmani; George K Asdourian; David A Williams; Inga Hofmann; Suneet Agarwal
Journal:  Pediatr Blood Cancer       Date:  2012-04-24       Impact factor: 3.167

Review 3.  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

Review 4.  Dyskeratosis congenita as a disorder of telomere maintenance.

Authors:  Nya D Nelson; Alison A Bertuch
Journal:  Mutat Res       Date:  2011-07-02       Impact factor: 2.433

5.  Progressive reticulate skin pigmentation and anonychia in a patient with bone marrow failure.

Authors:  Suzanne C Ward; Sharon A Savage; Neelam Giri; Blanche P Alter; Edward W Cowen
Journal:  J Am Acad Dermatol       Date:  2017-10-21       Impact factor: 11.527

Review 6.  Recent insights into inherited bone marrow failure syndromes.

Authors:  Shefali Parikh; Monica Bessler
Journal:  Curr Opin Pediatr       Date:  2012-02       Impact factor: 2.856

Review 7.  Biology of telomeres: importance in etiology of esophageal cancer and as therapeutic target.

Authors:  Jagannath Pal; Jason S Gold; Nikhil C Munshi; Masood A Shammas
Journal:  Transl Res       Date:  2013-10-01       Impact factor: 7.012

8.  p53 pathway activation by telomere attrition in X-DC primary fibroblasts occurs in the absence of ribosome biogenesis failure and as a consequence of DNA damage.

Authors:  J Carrillo; A González; C Manguán-García; L Pintado-Berninches; R Perona
Journal:  Clin Transl Oncol       Date:  2013-09-25       Impact factor: 3.405

9.  A unique homozygous WRAP53 Arg298Trp mutation underlies dyskeratosis congenita in a Chinese Han family.

Authors:  Yingqi Shao; Sizhou Feng; Jinbo Huang; Jiali Huo; Yahong You; Yizhou Zheng
Journal:  BMC Med Genet       Date:  2018-03-07       Impact factor: 2.103

Review 10.  The diagnosis and treatment of dyskeratosis congenita: a review.

Authors:  M Soledad Fernández García; Julie Teruya-Feldstein
Journal:  J Blood Med       Date:  2014-08-21
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