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Items: 1 to 20 of 127

1.
Benign familial polycythaemia
C. G. Geary, H. E. Amos, J. E. MacIver
J Clin Pathol. 1967 Mar; 20(2): 158–160. doi: 10.1136/jcp.20.2.158
PMCID:
PMC473446
SummaryPage BrowsePDF–459K
2.
Familial Polycythaemia Caused by a New Haemoglobin Variant: Hb Heathrow, β 103 (G5) Phenylalanine Leucine
J. M. White, L. Szur, I. D. S. Gillies, P. A. Lorkin, H. Lehmann
Br Med J. 1973 Sep 29; 3(5882): 665–667. doi: 10.1136/bmj.3.5882.665
PMCID:
PMC1587009
SummaryPage BrowsePDF–662K
3.
Germline variants in DNA repair genes, including BRCA1/2, may cause familial myeloproliferative neoplasms
Miriam Elbracht, Robert Meyer, Kim Kricheldorf, Deniz Gezer, Eggermann Thomas, Beate Betz, Ingo Kurth, Lino L. Teichmann, Tim H. Brümmendorf, Ulrich Germing, Susanne Isfort, Steffen Koschmieder
Blood Adv. 2021 Sep 14; 5(17): 3373–3376. Published online 2021 Sep 3. doi: 10.1182/bloodadvances.2021004811
Correction in:
Blood Adv. 2022 Dec 27; 6(24): 6208.
PMCID:
PMC8525218
AbstractArticlePDF–718K
4.
Familial Fibrocystic Pulmonary Dysplasia: Observations in One Family
Bernd Koch
Can Med Assoc J. 1965 Apr 10; 92(15): 801–808.
PMCID:
PMC1927973
SummaryPage BrowsePDF–3.3M
5.
Familial Polycythemia Caused by a Novel Mutation in the Beta Globin Gene: Essential Role of P50 in Evaluation of Familial Polycythemia
Neeraj Agarwal, Mariluz P. Mojica-Henshaw, Elizabeth. D. Simmons, Dottie Hussey, Ching N. Ou, Josef T. Prchal
Int J Med Sci. 2007; 4(4): 232–236. Published online 2007 Oct 4. doi: 10.7150/ijms.4.232
PMCID:
PMC2016865
AbstractArticlePDF–882K
6.
Whole-exome sequencing identifies novel candidate predisposition genes for familial polycythemia vera
Elina A. M. Hirvonen, Esa Pitkänen, Kari Hemminki, Lauri A. Aaltonen, Outi Kilpivaara
Hum Genomics. 2017; 11: 6. Published online 2017 Apr 20. doi: 10.1186/s40246-017-0102-x
PMCID:
PMC5397753
AbstractArticlePDF–381K
7.
Familial polycythemia due to truncations of the erythropoietin receptor.
B. G. Forget, B. A. Degan, M. O. Arcasoy
Trans Am Clin Climatol Assoc. 2000; 111: 38–45.
PMCID:
PMC2194364
SummaryPage BrowsePDF–726K
8.
A Gain-of-Function Mutation in the HIF2A Gene in Familial Erythrocytosis
Melanie J. Percy, Paul W. Furlow, Guy S. Lucas, Xiping Li, Terence R.J. Lappin, Mary Frances McMullin, Frank S. Lee
N Engl J Med. Author manuscript; available in PMC 2008 Jul 10.
Published in final edited form as: N Engl J Med. 2008 Jan 10; 358(2): 162–168. doi: 10.1056/NEJMoa073123
PMCID:
PMC2295209
AbstractArticlePDF–1.0M
9.
Identification of Two Novel EPOR Gene Variants in Primary Familial Polycythemia: Case Report and Literature Review
Laura Lo Riso, Gardenia Vargas-Parra, Gemma Navarro, Leonor Arenillas, Lierni Fernández-Ibarrondo, Beatriz Robredo, Carmen Ballester, Bernardo López, Albert Perez-Montaña, Antonia Sampol, Lourdes Florensa, Carles Besses, María Antonia Duran, Beatriz Bellosillo
Genes (Basel) 2022 Oct; 13(10): 1686. Published online 2022 Sep 20. doi: 10.3390/genes13101686
PMCID:
PMC9601602
AbstractArticlePDF–785K
10.
Familial secondary erythrocytosis due to increased oxygen affinity is caused by destabilization of the T state of hemoglobin Brigham (α2β2Pro100Leu)
Todd L Mollan, Bindu Abraham, Michael Brad Strader, Yiping Jia, Jay N Lozier, John S Olson, Abdu I Alayash
Protein Sci. 2012 Oct; 21(10): 1444–1455. Published online 2012 Jul 20. doi: 10.1002/pro.2130
PMCID:
PMC3526987
AbstractArticlePDF–667K
11.
Acquired familial Mediterranean fever associated with a somatic MEFV mutation in a patient with JAK2 associated post-polycythemia myelofibrosis
Yael Shinar, Tali Tohami, Avi Livneh, Ginette Schiby, Abraham Hirshberg, Meital Nagar, Itamar Goldstein, Rinat Cohen, Olga Kukuy, Ora Shubman, Yehonatan Sharabi, Eva Gonzalez-Roca, Juan I. Arostegui, Gideon Rechavi, Ninnette Amariglio, Ophira Salomon
Orphanet J Rare Dis. 2015; 10: 86. Published online 2015 Jun 30. doi: 10.1186/s13023-015-0298-6
PMCID:
PMC4506767
AbstractArticlePDF–1.4M
12.
Familial erythrocytosis arising from a gain-of-function mutation in the HIF2A gene of the oxygen sensing pathway
Melanie J Percy
Ulster Med J. 2008 May; 77(2): 86–88.
PMCID:
PMC2516423
ArticlePDF–779K
13.
Ligand-induced EpoR internalization is mediated by JAK2 and p85 and is impaired by mutations responsible for primary familial and congenital polycythemia
Rita Sulahian, Ondine Cleaver, Lily Jun-shen Huang
Blood. 2009 May 21; 113(21): 5287–5297. Prepublished online 2009 Mar 31. doi: 10.1182/blood-2008-09-179572
PMCID:
PMC2686193
AbstractArticle
14.
Benign familial polycythaemia in a young male
Maitra Somnath, Bhowmik Sreejita
Hematol Rep. 2012 Jan 2; 4(1): e2. Published online 2012 Jan 10. doi: 10.4081/hr.2012.e2
PMCID:
PMC3343451
AbstractArticlePDF–65K
15.
Hemoglobin Brigham (α2Aβ2100 Pro→Leu). HEMOGLOBIN VARIANT ASSOCIATED WITH FAMILIAL ERYTHROCYTOSIS
Jacob J. Lokich, William C. Moloney, H. Franklin Bunn, Sally M. Bruckheimer, Helen M. Ranney
J Clin Invest. 1973 Aug; 52(8): 2060–2067. doi: 10.1172/JCI107390
PMCID:
PMC302488
SummaryPage BrowsePDF–1.0M
16.
Genetic variants of erythropoietin (EPO) and EPO receptor genes in familial erythrocytosis
Danijela Vočanec, Tinkara Prijatelj, Nataša Debeljak, Tanja Kunej
Int J Lab Hematol. 2019 Apr; 41(2): 162–167. Published online 2018 Dec 3. doi: 10.1111/ijlh.12949
PMCID:
PMC7379665
AbstractArticlePDF–681K
17.
Advances in understanding the pathogenesis of primary familial and congenital polycythemia
Lily Jun-shen Huang, Yu-Min Shen, Gamze B. Bulut
Br J Haematol. Author manuscript; available in PMC 2011 Mar 1.
Published in final edited form as: Br J Haematol. 2010 Mar; 148(6): 844–852. Published online 2010 Jan 20. doi: 10.1111/j.1365-2141.2009.08069.x
PMCID:
PMC2864346
AbstractArticlePDF–436K
18.
A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis
Melanie J. Percy, Quan Zhao, Adrian Flores, Claire Harrison, Terence R. J. Lappin, Patrick H. Maxwell, Mary Frances McMullin, Frank S. Lee
Proc Natl Acad Sci U S A. 2006 Jan 17; 103(3): 654–659. Published online 2006 Jan 9. doi: 10.1073/pnas.0508423103
PMCID:
PMC1334658
AbstractArticlePDF–358K
19.
The VHL Tumor Suppressor Gene: Insights into Oxygen Sensing and Cancer
WILLIAM G. KAELIN, Jr.
Trans Am Clin Climatol Assoc. 2017; 128: 298–307.
PMCID:
PMC5525432
AbstractArticlePDF–394K
20.
Oxygen Sensing: Recent Insights from Idiopathic Erythrocytosis
Frank S. Lee, Melanie J. Percy, Mary Frances McMullin
Cell Cycle. Author manuscript; available in PMC 2008 Jun 8.
Published in final edited form as: Cell Cycle. 2006 May; 5(9): 941–945. Published online 2006 May 1. doi: 10.4161/cc.5.9.2723
PMCID:
PMC2422869
AbstractArticlePDF–106K

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