Literature DB >> 29033247

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

Suzanne C Ward1, Sharon A Savage2, Neelam Giri2, Blanche P Alter2, Edward W Cowen3.   

Abstract

KEY TEACHING POINTS. Published by Elsevier Inc.

Entities:  

Keywords:  dyskeratosis congenita; reticulate pigmentation; telomere

Mesh：

Year:  2017        PMID： 29033247      PMCID： PMC5685909          DOI： 10.1016/j.jaad.2017.07.018

Source DB:  PubMed          Journal:  J Am Acad Dermatol        ISSN： 0190-9622            Impact factor:   11.527


  18 in total

1.  Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study.

Authors:  Blanche P Alter; Neelam Giri; Sharon A Savage; June A Peters; Jennifer T Loud; Lisa Leathwood; Ann G Carr; Mark H Greene; Philip S Rosenberg
Journal:  Br J Haematol       Date:  2010-04-30       Impact factor: 6.998

Review 2.  Dyskeratosis congenita.

Authors:  Tom Vulliamy; Inderjeet Dokal
Journal:  Semin Hematol       Date:  2006-07       Impact factor: 3.851

3.  Clinical utility gene card for: dyskeratosis congenita.

Authors:  Inderjeet Dokal; Tom Vulliamy; Philip Mason; Monica Bessler
Journal:  Eur J Hum Genet       Date:  2011-05-25       Impact factor: 4.246

4.  Congenital hypoplastic thrombocytopenia and cerebral malformations in two brothers.

Authors:  H M Hoyeraal; J Lamvik; P J Moe
Journal:  Acta Paediatr Scand       Date:  1970-03

Review 5.  Pathophysiology and management of inherited bone marrow failure syndromes.

Authors:  Akiko Shimamura; Blanche P Alter
Journal:  Blood Rev       Date:  2010-04-24       Impact factor: 8.250

Review 6.  Cancer in dyskeratosis congenita.

Authors:  Blanche P Alter; Neelam Giri; Sharon A Savage; Philip S Rosenberg
Journal:  Blood       Date:  2009-03-12       Impact factor: 22.113

7.  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

8.  Oral and dental phenotype of dyskeratosis congenita.

Authors:  J C Atkinson; K E Harvey; D L Domingo; M I Trujillo; J P Guadagnini; S Gollins; N Giri; T C Hart; B P Alter
Journal:  Oral Dis       Date:  2008-07       Impact factor: 3.511

Review 9.  Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders.

Authors:  Bari J Ballew; Sharon A Savage
Journal:  Expert Rev Hematol       Date:  2013-06       Impact factor: 2.929

Review 10.  Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder.

Authors:  Galina Glousker; Fabien Touzot; Patrick Revy; Yehuda Tzfati; Sharon A Savage
Journal:  Br J Haematol       Date:  2015-05-04       Impact factor: 6.998
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  4 in total

Review 1.  An update on the biology and management of dyskeratosis congenita and related telomere biology disorders.

Authors:  Marena R Niewisch; Sharon A Savage
Journal:  Expert Rev Hematol       Date:  2019-09-10       Impact factor: 2.819

Review 2.  CST in maintaining genome stability: Beyond telomeres.

Authors:  Xinxing Lyu; Pau Biak Sang; Weihang Chai
Journal:  DNA Repair (Amst)       Date:  2021-03-22

3.  Dyskeratosis congenita.

Authors:  Lorenzo Gitto; Robert Stoppacher; Timothy Eric Richardson; Serenella Serinelli
Journal:  Autops Case Rep       Date:  2020-09-02

4.  Dyskeratosis congenita: rare case report of Syria.

Authors:  Firas Hussein; Zainab Omar
Journal:  Oxf Med Case Reports       Date:  2021-11-25
  4 in total

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