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Results: 1 to 20 of 98

1.

Genetic basis of congenital erythrocytosis: mutation update and online databases.

Bento C, Percy MJ, Gardie B, Maia TM, van Wijk R, Perrotta S, Della Ragione F, Almeida H, Rossi C, Girodon F, Aström M, Neumann D, Schnittger S, Landin B, Minkov M, Randi ML, Richard S, Casadevall N, Vainchenker W, Rives S, Hermouet S, Ribeiro ML, McMullin MF, Cario H; ECE-Consortium, Chauveau A, Gimenez-Roqueplo AP, Bressac-de-Paillerets B, Altindirek D, Lorenzo F, Lambert F, Dan H, Gad-Lapiteau S, Catarina Oliveira A, Rossi C, Fraga C, Taradin G, Martin-Nuñez G, Vitória H, Diaz Aguado H, Palmblad J, Vidán J, Relvas L, Ribeiro ML, Luigi Larocca M, Luigia Randi M, Pedro Silveira M, Percy M, Gross M, Marques da Costa R, Beshara S, Ben-Ami T, Ugo V; ECE-Consortium.

Hum Mutat. 2014 Jan;35(1):15-26. doi: 10.1002/humu.22448. Epub 2013 Oct 22.

PMID:
24115288
[PubMed - indexed for MEDLINE]
2.

Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?).

Bento C, Almeida H, Maia TM, Relvas L, Oliveira AC, Rossi C, Girodon F, Fernandez-Lago C, Aguado-Diaz A, Fraga C, Costa RM, Araújo AL, Silva J, Vitória H, Miguel N, Silveira MP, Martin-Nuñez G, Ribeiro ML.

Eur J Haematol. 2013 Oct;91(4):361-8. doi: 10.1111/ejh.12170. Epub 2013 Aug 20.

PMID:
23859443
[PubMed - indexed for MEDLINE]
3.

"Benign erythrocytosis" and other familial and congenital polycythemias.

Prchal JT, Sokol L.

Eur J Haematol. 1996 Oct;57(4):263-8. Review.

PMID:
8982288
[PubMed - indexed for MEDLINE]
4.

Two new EPO receptor mutations: truncated EPO receptors are most frequently associated with primary familial and congenital polycythemias.

Kralovics R, Indrak K, Stopka T, Berman BW, Prchal JF, Prchal JT.

Blood. 1997 Sep 1;90(5):2057-61.

PMID:
9292543
[PubMed - indexed for MEDLINE]
Free Article
5.

A novel mutation in the erythropoietin receptor gene is associated with familial erythrocytosis.

Arcasoy MO, Karayal AF, Segal HM, Sinning JG, Forget BG.

Blood. 2002 Apr 15;99(8):3066-9.

PMID:
11929803
[PubMed - indexed for MEDLINE]
Free Article
6.

Absence of polycythemia in a child with a unique erythropoietin receptor mutation in a family with autosomal dominant primary polycythemia.

Kralovics R, Sokol L, Prchal JT.

J Clin Invest. 1998 Jul 1;102(1):124-9.

PMID:
9649565
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Polycythemia and oxygen sensing.

Maran J, Prchal J.

Pathol Biol (Paris). 2004 Jun;52(5):280-4. Review.

PMID:
15217714
[PubMed - indexed for MEDLINE]
8.

Hereditary gene mutations in Korean patients with isolated erythrocytosis.

Jang JH, Seo JY, Jang J, Jung CW, Lee KO, Kim SH, Kim HJ.

Ann Hematol. 2014 Jun;93(6):931-5. doi: 10.1007/s00277-014-2006-3. Epub 2014 Jan 31.

PMID:
24482100
[PubMed - indexed for MEDLINE]
9.

Possible primary familial and congenital polycythemia locus at 7q22.1-7q22.2.

Jedlickova K, Stockton DW, Prchal JT.

Blood Cells Mol Dis. 2003 Nov-Dec;31(3):327-31.

PMID:
14636647
[PubMed - indexed for MEDLINE]
10.

Erythropoietin hypersensitivity in primary familial and congenital polycythemia: role of tyrosines Y285 and Y344 in erythropoietin receptor cytoplasmic domain.

Arcasoy MO, Karayal AF.

Biochim Biophys Acta. 2005 Apr 15;1740(1):17-28. Epub 2005 Apr 1.

PMID:
15878737
[PubMed - indexed for MEDLINE]
Free Article
11.

Molecular genetic analyses in familial and sporadic congenital primary erythrocytosis.

Rives S, Pahl HL, Florensa L, Bellosillo B, Neusuess A, Estella J, Debatin KM, Kohne E, Schwarz K, Cario H.

Haematologica. 2007 May;92(5):674-7.

PMID:
17488692
[PubMed - indexed for MEDLINE]
Free Article
12.

Congenital polycythemias/erythrocytoses.

Gordeuk VR, Stockton DW, Prchal JT.

Haematologica. 2005 Jan;90(1):109-16. Review.

PMID:
15642677
[PubMed - indexed for MEDLINE]
Free Article
13.

Idiopathic erythrocytosis: a disappearing entity.

McMullin MF.

Hematology Am Soc Hematol Educ Program. 2009:629-35. doi: 10.1182/asheducation-2009.1.629. Review.

PMID:
20008248
[PubMed - indexed for MEDLINE]
Free Article
14.

A novel mutation of the erythropoietin receptor gene associated with primary familial and congenital polycythaemia.

O'Rourke K, Fairbairn DJ, Jackson KA, Morris KL, Tey SK, Kennedy GA.

Int J Hematol. 2011 Apr;93(4):542-4. doi: 10.1007/s12185-011-0813-z. Epub 2011 Mar 25.

PMID:
21437635
[PubMed - indexed for MEDLINE]
15.

Advances in understanding the pathogenesis of primary familial and congenital polycythaemia.

Huang LJ, Shen YM, Bulut GB.

Br J Haematol. 2010 Mar;148(6):844-52. doi: 10.1111/j.1365-2141.2009.08069.x. Epub 2010 Jan 20. Review.

PMID:
20096014
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Genetic heterogeneity of primary familial and congenital polycythemia.

Kralovics R, Prchal JT.

Am J Hematol. 2001 Oct;68(2):115-21.

PMID:
11559951
[PubMed - indexed for MEDLINE]
17.

Polycythaemia-inducing mutations in the erythropoietin receptor (EPOR): mechanism and function as elucidated by epidermal growth factor receptor-EPOR chimeras.

Gross M, Ben-Califa N, McMullin MF, Percy MJ, Bento C, Cario H, Minkov M, Neumann D.

Br J Haematol. 2014 May;165(4):519-28. doi: 10.1111/bjh.12782. Epub 2014 Feb 18.

PMID:
24533580
[PubMed - indexed for MEDLINE]
18.

Erythrocytosis due to a mutation in the erythropoietin receptor gene.

Percy MJ, McMullin MF, Roques AW, Westwood NB, Acharya J, Hughes AE, Lappin TR, Pearson TC.

Br J Haematol. 1998 Feb;100(2):407-10.

PMID:
9488636
[PubMed - indexed for MEDLINE]
19.

Mutations in the VHL gene in sporadic apparently congenital polycythemia.

Pastore YD, Jelinek J, Ang S, Guan Y, Liu E, Jedlickova K, Krishnamurti L, Prchal JT.

Blood. 2003 Feb 15;101(4):1591-5. Epub 2002 Oct 10.

PMID:
12393546
[PubMed - indexed for MEDLINE]
Free Article
20.

Evaluation of "increased" hemoglobin in the JAK2 mutations era: a diagnostic algorithm based on genetic tests.

Tefferi A, Pardanani A.

Mayo Clin Proc. 2007 May;82(5):599-604.

PMID:
17493421
[PubMed - indexed for MEDLINE]

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