Literature DB >> 27824607

Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders.

Payal P Khincha1, Alison A Bertuch2, Suneet Agarwal3, Danielle M Townsley4, Neal S Young4, Siobán Keel5, Akiko Shimamura3, Farid Boulad6, Tregony Simoneau7, Henri Justino2, Christin Kuo8, Steven Artandi9, Charles McCaslin10, Des W Cox11, Sara Chaffee12, Bridget F Collins13, Neelam Giri14, Blanche P Alter14, Ganesh Raghu13,15, Sharon A Savage14,15.   

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Year:  2017        PMID： 27824607      PMCID： PMC5841586          DOI： 10.1183/13993003.01640-2016

Source DB:  PubMed          Journal:  Eur Respir J        ISSN： 0903-1936            Impact factor:   16.671


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  15 in total

Review 1.  Dyskeratosis congenita in all its forms.

Authors:  I Dokal
Journal:  Br J Haematol       Date:  2000-09       Impact factor: 6.998

2.  A boy with breathlessness, digital clubbing and central cyanosis.

Authors:  Sanne J Gordijn; Paul L P Brand
Journal:  Eur J Pediatr       Date:  2003-12-03       Impact factor: 3.183

3.  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 4.  The molecular genetics of the telomere biology disorders.

Authors:  Alison A Bertuch
Journal:  RNA Biol       Date:  2015-09-23       Impact factor: 4.652

5.  Hepatopulmonary syndrome is a frequent cause of dyspnea in the short telomere disorders.

Authors:  Amany I Gorgy; Naudia L Jonassaint; Susan E Stanley; Ayman Koteish; Amy E DeZern; Jolan E Walter; Sabrina C Sopha; James P Hamilton; Julie Hoover-Fong; Allen R Chen; Robert A Anders; Ihab R Kamel; Mary Armanios
Journal:  Chest       Date:  2015-10       Impact factor: 9.410

6.  Natural history of hepatopulmonary syndrome: Impact of liver transplantation.

Authors:  Karen L Swanson; Russell H Wiesner; Michael J Krowka
Journal:  Hepatology       Date:  2005-05       Impact factor: 17.425

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.  Hereditary hemorrhagic telangiectasia.

Authors:  Melissa G Chung
Journal:  Handb Clin Neurol       Date:  2015

9.  International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia.

Authors:  M E Faughnan; V A Palda; G Garcia-Tsao; U W Geisthoff; J McDonald; D D Proctor; J Spears; D H Brown; E Buscarini; M S Chesnutt; V Cottin; A Ganguly; J R Gossage; A E Guttmacher; R H Hyland; S J Kennedy; J Korzenik; J J Mager; A P Ozanne; J F Piccirillo; D Picus; H Plauchu; M E M Porteous; R E Pyeritz; D A Ross; C Sabba; K Swanson; P Terry; M C Wallace; C J J Westermann; R I White; L H Young; R Zarrabeitia
Journal:  J Med Genet       Date:  2009-06-23       Impact factor: 6.318

Review 10.  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
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  12 in total

Review 1.  Inherited bone marrow failure syndromes: considerations pre- and posttransplant.

Authors:  Blanche P Alter
Journal:  Blood       Date:  2017-11-23       Impact factor: 22.113

Review 2.  Inherited bone marrow failure syndromes: considerations pre- and posttransplant.

Authors:  Blanche P Alter
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2017-12-08

3.  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 4.  Distinguishing constitutional from acquired bone marrow failure in the hematology clinic.

Authors:  Emma M Groarke; Neal S Young; Katherine R Calvo
Journal:  Best Pract Res Clin Haematol       Date:  2021-06-02       Impact factor: 3.670

5.  Disease progression and clinical outcomes in telomere biology disorders.

Authors:  Marena R Niewisch; Neelam Giri; Lisa J McReynolds; Rotana Alsaggaf; Sonia Bhala; Blanche P Alter; Sharon A Savage
Journal:  Blood       Date:  2022-03-24       Impact factor: 25.476

6.  Automated identification of pulmonary arteries and veins depicted in non-contrast chest CT scans.

Authors:  Jiantao Pu; Joseph K Leader; Jacob Sechrist; Cameron A Beeche; Jatin P Singh; Iclal K Ocak; Michael G Risbano
Journal:  Med Image Anal       Date:  2022-01-12       Impact factor: 8.545

Review 7.  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

8.  Clinical and Molecular Heterogeneity of RTEL1 Deficiency.

Authors:  Carsten Speckmann; Sushree Sangita Sahoo; Marta Rizzi; Shinsuke Hirabayashi; Axel Karow; Nina Kathrin Serwas; Marc Hoemberg; Natalja Damatova; Detlev Schindler; Jean-Baptiste Vannier; Simon J Boulton; Ulrich Pannicke; Gudrun Göhring; Kathrin Thomay; J J Verdu-Amoros; Holger Hauch; Wilhelm Woessmann; Gabriele Escherich; Eckart Laack; Liliana Rindle; Maximilian Seidl; Anne Rensing-Ehl; Ekkehart Lausch; Christine Jandrasits; Brigitte Strahm; Klaus Schwarz; Stephan R Ehl; Charlotte Niemeyer; Kaan Boztug; Marcin W Wlodarski
Journal:  Front Immunol       Date:  2017-05-01       Impact factor: 7.561

9.  Prognostic significance of pulmonary function tests in dyskeratosis congenita, a telomere biology disorder.

Authors:  Neelam Giri; Sandhiya Ravichandran; Youjin Wang; Shahinaz M Gadalla; Blanche P Alter; Joseph Fontana; Sharon A Savage
Journal:  ERJ Open Res       Date:  2019-11-15

Review 10.  Senescence and senolytics in cardiovascular disease: Promise and potential pitfalls.

Authors:  W Andrew Owens; Anna Walaszczyk; Ioakim Spyridopoulos; Emily Dookun; Gavin D Richardson
Journal:  Mech Ageing Dev       Date:  2021-07-06       Impact factor: 5.432
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