Literature DB >> 25109928

Ocular manifestations of hypoxia-inducible factor-2α paraganglioma-somatostatinoma-polycythemia syndrome.

Karel Pacak1, Emily Y Chew2, Alberto S Pappo3, Chunzhang Yang4, Felipe R Lorenzo5, Matthew W Wilson6, Mary Beth Aronow2, James A Young7, Vera Popovic8, Zhengping Zhuang4.   

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Year:  2014        PMID： 25109928      PMCID： PMC4253312          DOI： 10.1016/j.ophtha.2014.06.019

Source DB:  PubMed          Journal:  Ophthalmology        ISSN： 0161-6420            Impact factor:   12.079


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  5 in total

Review 1.  Early eye development in vertebrates.

Authors:  R L Chow; R A Lang
Journal:  Annu Rev Cell Dev Biol       Date:  2001       Impact factor: 13.827

Review 2.  Hypoxia-inducible factors in physiology and medicine.

Authors:  Gregg L Semenza
Journal:  Cell       Date:  2012-02-03       Impact factor: 41.582

3.  Retinal disease in mice lacking hypoxia-inducible transcription factor-2alpha.

Authors:  Kan Ding; Marzia Scortegagna; Robyn Seaman; David G Birch; Joseph A Garcia
Journal:  Invest Ophthalmol Vis Sci       Date:  2005-03       Impact factor: 4.799

4.  Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia.

Authors:  Zhengping Zhuang; Chunzhang Yang; Felipe Lorenzo; Maria Merino; Tito Fojo; Electron Kebebew; Vera Popovic; Constantine A Stratakis; Josef T Prchal; Karel Pacak
Journal:  N Engl J Med       Date:  2012-09-06       Impact factor: 91.245

5.  New syndrome of paraganglioma and somatostatinoma associated with polycythemia.

Authors:  Karel Pacak; Ivana Jochmanova; Tamara Prodanov; Chunzhang Yang; Maria J Merino; Tito Fojo; Josef T Prchal; Arthur S Tischler; Ronald M Lechan; Zhengping Zhuang
Journal:  J Clin Oncol       Date:  2013-03-18       Impact factor: 44.544
  5 in total
  14 in total

1.  Somatic gain-of-function HIF2A mutations in sporadic central nervous system hemangioblastomas.

Authors:  David Taïeb; Anne Barlier; Chunzhang Yang; Morgane Pertuit; Aurélie Tchoghandjian; Claire Rochette; Hélène Zattara-Canoni; Dominique Figarella-Branger; Zhengping Zhuang; Karel Pacak; Philippe Metellus
Journal:  J Neurooncol       Date:  2015-10-29       Impact factor: 4.130

Review 2.  Precision medicine in pheochromocytoma and paraganglioma: current and future concepts.

Authors:  P Björklund; K Pacak; J Crona
Journal:  J Intern Med       Date:  2016-05-10       Impact factor: 8.989

3.  Nonmosaic somatic HIF2A mutations associated with late onset polycythemia-paraganglioma syndrome: Newly recognized subclass of polycythemia-paraganglioma syndrome.

Authors:  Ying Pang; Garima Gupta; Abhishek Jha; Xupeng Yue; Herui Wang; Thanh-Truc Huynh; Aiguo Li; Liping Li; Eva Baker; Emily Chew; Richard A Feelders; Esther Korpershoek; Zhengping Zhuang; Chunzhang Yang; Karel Pacak
Journal:  Cancer       Date:  2019-01-15       Impact factor: 6.860

4.  Novel insights into the polycythemia-paraganglioma-somatostatinoma syndrome.

Authors:  Roland Därr; Joan Nambuba; Jaydira Del Rivero; Ingo Janssen; Maria Merino; Milena Todorovic; Bela Balint; Ivana Jochmanova; Josef T Prchal; Ronald M Lechan; Arthur S Tischler; Vera Popovic; Dragana Miljic; Karen T Adams; F Ryan Prall; Alexander Ling; Meredith R Golomb; Michael Ferguson; Naris Nilubol; Clara C Chen; Emily Chew; David Taïeb; Constantine A Stratakis; Tito Fojo; Chunzhang Yang; Electron Kebebew; Zhengping Zhuang; Karel Pacak
Journal:  Endocr Relat Cancer       Date:  2016-09-27       Impact factor: 5.678

5.  Clinical manifestations of Pacak-Zhuang syndrome in a male pediatric patient.

Authors:  Adel Abdallah; Alberto Pappo; Ulrike Reiss; Barry L Shulkin; Zhengping Zhuang; Karel Pacak; Armita Bahrami
Journal:  Pediatr Blood Cancer       Date:  2019-12-25       Impact factor: 3.838

6.  Somatic mosaicism of EPAS1 mutations in the syndrome of paraganglioma and somatostatinoma associated with polycythemia.

Authors:  Chunzhang Yang; Christopher S Hong; Josef T Prchal; Melina T Balint; Karel Pacak; Zhengping Zhuang
Journal:  Hum Genome Var       Date:  2015-12-10

Review 7.  Review of Pediatric Pheochromocytoma and Paraganglioma.

Authors:  Reshma Bholah; Timothy Edward Bunchman
Journal:  Front Pediatr       Date:  2017-07-13       Impact factor: 3.418

8.  Paraganglioma of the organ of Zuckerkandl associated with a somatic HIF2α mutation: A case report.

Authors:  Ahmad Esmaeel Abdullah; Carole Guerin; Alessio Imperiale; Anne Barlier; Stéphanie Battini; Morgane Pertuit; Philippe Roche; Wassim Essamet; Bernard Vaisse; Karel Pacak; Fréderic Sebag; David Taïeb
Journal:  Oncol Lett       Date:  2017-01-12       Impact factor: 2.967

9.  Hypoxia-Inducible Factor 2α Mutation-Related Paragangliomas Classify as Discrete Pseudohypoxic Subcluster.

Authors:  Stephanie M J Fliedner; Uma Shankavaram; Geena Marzouca; Abdel Elkahloun; Ivana Jochmanova; Roland Daerr; W Marston Linehan; Henri Timmers; Arthur S Tischler; Konstantinos Papaspyrou; Jürgen Brieger; Ronald de Krijger; Jan Breza; Graeme Eisenhofer; Zhengping Zhuang; Hendrik Lehnert; Karel Pacak
Journal:  Neoplasia       Date:  2016-09       Impact factor: 5.715

Review 10.  A Clinical Roadmap to Investigate the Genetic Basis of Pediatric Pheochromocytoma: Which Genes Should Physicians Think About?

Authors:  Bernardo Dias Pereira; Tiago Nunes da Silva; Ana Teresa Bernardo; Rui César; Henrique Vara Luiz; Karel Pacak; Luísa Mota-Vieira
Journal:  Int J Endocrinol       Date:  2018-03-20       Impact factor: 3.257
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