Lorenzo FR - Search Results

1

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

Pacak K, Chew EY, Pappo AS, Yang C, Lorenzo FR, Wilson MW, Aronow MB, Young JA, Popovic V, Zhuang Z. Pacak K, et al. Among authors: lorenzo fr. Ophthalmology. 2014 Nov;121(11):2291-3. doi: 10.1016/j.ophtha.2014.06.019. Epub 2014 Aug 8. Ophthalmology. 2014. PMID: 25109928 Free PMC article. No abstract available.

2

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

Zhuang Z, Yang C, Lorenzo F, Merino M, Fojo T, Kebebew E, Popovic V, Stratakis CA, Prchal JT, Pacak K. Zhuang Z, et al. N Engl J Med. 2012 Sep 6;367(10):922-30. doi: 10.1056/NEJMoa1205119. N Engl J Med. 2012. PMID: 22931260 Free PMC article.

3

A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma.

Lorenzo FR, Yang C, Ng Tang Fui M, Vankayalapati H, Zhuang Z, Huynh T, Grossmann M, Pacak K, Prchal JT. Lorenzo FR, et al. J Mol Med (Berl). 2013 Apr;91(4):507-12. doi: 10.1007/s00109-012-0967-z. Epub 2012 Oct 23. J Mol Med (Berl). 2013. PMID: 23090011 Free PMC article.

4

Novel homozygous VHL mutation in exon 2 is associated with congenital polycythemia but not with cancer.

Lanikova L, Lorenzo F, Yang C, Vankayalapati H, Drachtman R, Divoky V, Prchal JT. Lanikova L, et al. Blood. 2013 May 9;121(19):3918-24. doi: 10.1182/blood-2012-11-469296. Epub 2013 Mar 28. Blood. 2013. PMID: 23538339 Free PMC article.

5

Novel compound VHL heterozygosity (VHL T124A/L188V) associated with congenital polycythaemia.

Lorenzo FR, Yang C, Lanikova L, Butros L, Zhuang Z, Prchal JT. Lorenzo FR, et al. Br J Haematol. 2013 Sep;162(6):851-3. doi: 10.1111/bjh.12431. Epub 2013 Jun 17. Br J Haematol. 2013. PMID: 23772956 Free PMC article. No abstract available.

6

RUNX1 and NF-E2 upregulation is not specific for MPNs, but is seen in polycythemic disorders with augmented HIF signaling.

Kapralova K, Lanikova L, Lorenzo F, Song J, Horvathova M, Divoky V, Prchal JT. Kapralova K, et al. Blood. 2014 Jan 16;123(3):391-4. doi: 10.1182/blood-2013-10-534222. Epub 2013 Dec 2. Blood. 2014. PMID: 24297870 Free PMC article.

7

Molecular basis of two novel mutations found in type I methemoglobinemia.

Lorenzo FR 5th, Phillips JD, Nussenzveig R, Lingam B, Koul PA, Schrier SL, Prchal JT. Lorenzo FR 5th, et al. Blood Cells Mol Dis. 2011 Apr 15;46(4):277-81. doi: 10.1016/j.bcmd.2011.01.005. Epub 2011 Feb 24. Blood Cells Mol Dis. 2011. PMID: 21349748 Free PMC article.

8

Thrombotic risk in congenital erythrocytosis due to up-regulated hypoxia sensing is not associated with elevated hematocrit.

Gordeuk VR, Miasnikova GY, Sergueeva AI, Lorenzo FR, Zhang X, Song J, Stockton DW, Prchal JT. Gordeuk VR, et al. Among authors: lorenzo fr. Haematologica. 2020 Mar;105(3):e87-e90. doi: 10.3324/haematol.2019.216267. Epub 2019 Jul 9. Haematologica. 2020. PMID: 31289208 Free PMC article. No abstract available.

9

High altitude genetic adaptation in Tibetans: no role of increased hemoglobin-oxygen affinity.

Tashi T, Feng T, Koul P, Amaru R, Hussey D, Lorenzo FR, RiLi G, Prchal JT. Tashi T, et al. Among authors: lorenzo fr. Blood Cells Mol Dis. 2014 Jun-Aug;53(1-2):27-9. doi: 10.1016/j.bcmd.2014.02.003. Epub 2014 Mar 4. Blood Cells Mol Dis. 2014. PMID: 24618341 Free PMC article.

10

Evolutionary history of Tibetans inferred from whole-genome sequencing.

Hu H, Petousi N, Glusman G, Yu Y, Bohlender R, Tashi T, Downie JM, Roach JC, Cole AM, Lorenzo FR, Rogers AR, Brunkow ME, Cavalleri G, Hood L, Alpatty SM, Prchal JT, Jorde LB, Robbins PA, Simonson TS, Huff CD. Hu H, et al. Among authors: lorenzo fr. PLoS Genet. 2017 Apr 27;13(4):e1006675. doi: 10.1371/journal.pgen.1006675. eCollection 2017 Apr. PLoS Genet. 2017. PMID: 28448578 Free PMC article.

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