Literature DB >> 25182133

Clinical utility gene card for: Dyskeratosis congenita - update 2015.

Inderjeet Dokal1, Tom Vulliamy1, Philip Mason2, Monica Bessler2.   

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Year:  2014        PMID： 25182133      PMCID： PMC4667501          DOI： 10.1038/ejhg.2014.170

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


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  11 in total

Review 1.  Dyskeratosis congenita.

Authors:  Inderjeet Dokal
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2011

2.  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

3.  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

4.  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 5.  Telomere diseases.

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

6.  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

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

Review 8.  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

9.  Dyskeratosis congenita.

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

10.  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
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  27 in total

1.  Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.

Authors:  Eszter Balogh; Jennifer C Chandler; Máté Varga; Mona Tahoun; Dóra K Menyhárd; Gusztáv Schay; Tomas Goncalves; Renáta Hamar; Regina Légrádi; Ákos Szekeres; Olivier Gribouval; Robert Kleta; Horia Stanescu; Detlef Bockenhauer; Andrea Kerti; Hywel Williams; Veronica Kinsler; Wei-Li Di; David Curtis; Maria Kolatsi-Joannou; Hafsa Hammid; Anna Szőcs; Kristóf Perczel; Erika Maka; Gergely Toldi; Florentina Sava; Christelle Arrondel; Magdolna Kardos; Attila Fintha; Ahmed Hossain; Felipe D'Arco; Mario Kaliakatsos; Jutta Koeglmeier; William Mifsud; Mariya Moosajee; Ana Faro; Eszter Jávorszky; Gábor Rudas; Marwa H Saied; Salah Marzouk; Kata Kelen; Judit Götze; George Reusz; Tivadar Tulassay; François Dragon; Géraldine Mollet; Susanne Motameny; Holger Thiele; Guillaume Dorval; Peter Nürnberg; András Perczel; Attila J Szabó; David A Long; Kazunori Tomita; Corinne Antignac; Aoife M Waters; Kálmán Tory
Journal:  Proc Natl Acad Sci U S A       Date:  2020-06-17       Impact factor: 11.205

Review 2.  Extrahematopoietic manifestations of the short telomere syndromes.

Authors:  Kristen E Schratz
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2020-12-04

3.  Analysis of 153 115 patients with hematological malignancies refines the spectrum of familial risk.

Authors:  Amit Sud; Subhayan Chattopadhyay; Hauke Thomsen; Kristina Sundquist; Jan Sundquist; Richard S Houlston; Kari Hemminki
Journal:  Blood       Date:  2019-08-08       Impact factor: 22.113

Review 4.  RNA-guided isomerization of uridine to pseudouridine--pseudouridylation.

Authors:  Yi-Tao Yu; U Thomas Meier
Journal:  RNA Biol       Date:  2014       Impact factor: 4.652

5.  Poikiloderma with Neutropenia in Morocco: a Report of Four Cases.

Authors:  Ayoub Aglaguel; Houria Abdelghaffar; Fatima Ailal; Norddine Habti; Sebastian Hesse; Naschla Kohistani; Christoph Klein; Ahmed Aziz Bousfiha
Journal:  J Clin Immunol       Date:  2017-03-28       Impact factor: 8.317

6.  Human mutational constraint as a tool to understand biology of rare and emerging bone marrow failure syndromes.

Authors:  Joseph H Oved; Daria V Babushok; Michele P Lambert; Nicole Wolfset; M Anna Kowalska; Mortimer Poncz; Konrad J Karczewski; Timothy S Olson
Journal:  Blood Adv       Date:  2020-10-27

7.  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

Review 8.  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

9.  Liver Transplant for Management of Hepatic Complications of Dyskeratosis Congenita: A Case Report.

Authors:  Musab Alebrahim; Clifford Akateh; Christina A Arnold; Dathe Benissan-Messan; Jesus A Chavez; Navdeep Singh; Yazan Al-Adwan; Ashraf El-Hinnawi; Anthony Michaels; Sylvester M Black
Journal:  Exp Clin Transplant       Date:  2020-11-27       Impact factor: 0.938

10.  Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis.

Authors:  Amanda J Walne; Laura Collopy; Shirleny Cardoso; Alicia Ellison; Vincent Plagnol; Canan Albayrak; Davut Albayrak; Sara Sebnem Kilic; Turkan Patıroglu; Haluk Akar; Keith Godfrey; Tina Carter; Makia Marafie; Ajay Vora; Mikael Sundin; Thomas Vulliamy; Hemanth Tummala; Inderjeet Dokal
Journal:  Haematologica       Date:  2016-09-09       Impact factor: 9.941
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