| 1 |
Genetic variability of hypoxia-inducible factor alpha (HIFA) genes in familial erythrocytosis: Analysis of the literature and genome databases.
61
|
Kristan A...Kunej T
|
31376207 |
2019 |
| 2 |
A Kindred with a β-Globin Base Substitution [β89(F5)Ser→Arg (AGT>AGG); HBB: c.270T>G] Resulting in Hemoglobin Vanderbilt.
61
|
Shomali W...Gotlib JR
|
31657650 |
2019 |
| 3 |
Genetic variants of erythropoietin (EPO) and EPO receptor genes in familial erythrocytosis.
61
|
Vocanec D...Kunej T
|
30507031 |
2019 |
| 4 |
Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.
61
|
Lenglet M...Gardie B
|
29891534 |
2018 |
| 5 |
A Gain-of-Function Mutation in EPO in Familial Erythrocytosis.
61
|
Zmajkovic J...Skoda RC
|
29514032 |
2018 |
| 6 |
EPAS1 p.M535T mutation in a Bulgarian family with congenital erythrocytosis.
61
|
Alaikov T...Shivarov V
|
27292716 |
2016 |
| 7 |
Hb Tarrant [α126(H9)Asp→Asn; HBA2: c.379G > A (or HBA1)] in a Chinese Family as a Cause of Familial Erythrocytosis.
61
|
Ip KL...Ng MH
|
27240426 |
2016 |
| 8 |
Structural basis for oxygen degradation domain selectivity of the HIF prolyl hydroxylases.
61
|
Chowdhury R...Schofield CJ
|
27561929 |
2016 |
| 9 |
Idiopathic erythrocytosis: a study of a large cohort with a long follow-up.
61
|
Randi ML...Fabris F
|
26547864 |
2016 |
| 10 |
Linking tissues to phenotypes using gene expression profiles.
61
|
Oellrich A...Smedley D
|
24634472 |
2014 |
| 11 |
Genetic basis of congenital erythrocytosis: mutation update and online databases.
61
|
Bento C...ECE-Consortium
|
24115288 |
2014 |
| 12 |
Congenital erythrocytosis associated with gain-of-function HIF2A gene mutations and erythropoietin levels in the normal range.
61
|
Perrotta S...Della Ragione F
|
23716564 |
2013 |
| 13 |
Regulation of erythropoiesis by hypoxia-inducible factors.
61
|
Haase VH
|
23291219 |
2013 |
| 14 |
Erythrocytosis in a child due to Hb Andrew-Minneapolis [β144(HC1)Lys→Asn (AAG>AAT or AAC)] associated with a Spanish (δβ)(0)-thalassemia.
61
|
Ropero P...Diaz-Mediavilla J
|
23215953 |
2013 |
| 15 |
Familial secondary erythrocytosis due to increased oxygen affinity is caused by destabilization of the T state of hemoglobin Brigham (α₂β₂(Pro100Leu)).
61
|
Mollan TL...Alayash AI
|
22821886 |
2012 |
| 16 |
Clinical utility gene card for: familial erythrocytosis.
61
|
Hussein K...McMullin MF
|
22274579 |
2012 |
| 17 |
[Molecular markers in hematology and oncology].
61
|
Schmidt A
|
20859878 |
2010 |
| 18 |
[Mutations in hypoxia-inducible factor and its regulatory molecules in familial erythrocytosis].
61
|
Komatsu N
|
19915370 |
2009 |
| 19 |
Involvement of oxygen-sensing pathways in physiologic and pathologic erythropoiesis.
61
|
Semenza GL
|
19494350 |
2009 |
| 20 |
PHD2 mutation and congenital erythrocytosis with paraganglioma.
61
|
Ladroue C...Gardie B
|
19092153 |
2008 |
| 21 |
Biochemical characterization of human prolyl hydroxylase domain protein 2 variants associated with erythrocytosis.
61
|
Pappalardi MB...Luo L
|
18834144 |
2008 |
| 22 |
A novel heterozygous HIF2AM535I mutation reinforces the role of oxygen sensing pathway disturbances in the pathogenesis of familial erythrocytosis.
61
|
Martini M...Larocca LM
|
18508787 |
2008 |
| 23 |
Familial erythrocytosis: molecular links to red blood cell control.
61
|
Percy MJ...Lee FS
|
18591620 |
2008 |
| 24 |
The HIF2A gene in familial erythrocytosis.
61
|
Prchal JT...Gordeuk VR
|
18456917 |
2008 |
| 25 |
The HIF2A gene in familial erythrocytosis.
61
|
Eltzschig HK...Eckle T
|
18450610 |
2008 |
| 26 |
Familial erythrocytosis arising from a gain-of-function mutation in the HIF2A gene of the oxygen sensing pathway.
61
|
Percy MJ
|
18711622 |
2008 |
| 27 |
The HIF2A gene in familial erythrocytosis.
61
|
Perrotta S...Della Ragione F
|
18456918 |
2008 |
| 28 |
Disturbance in the HIF-1alpha pathway associated with erythrocytosis: further evidences brought by frameshift and nonsense mutations in the prolyl hydroxylase domain protein 2 (PHD2) gene.
61
|
Al-Sheikh M...Prehu C
|
17933562 |
2008 |
| 29 |
A gain-of-function mutation in the HIF2A gene in familial erythrocytosis.
61
|
Percy MJ...Lee FS
|
18184961 |
2008 |
| 30 |
Cellular oxygen sensing: Crystal structure of hypoxia-inducible factor prolyl hydroxylase (PHD2).
61
|
McDonough MA...Schofield CJ
|
16782814 |
2006 |
| 31 |
Oxygen sensing: recent insights from idiopathic erythrocytosis.
61
|
Lee FS...McMullin MF
|
16687917 |
2006 |
| 32 |
A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis.
61
|
Percy MJ...Lee FS
|
16407130 |
2006 |
| 33 |
A basic classification and a comprehensive examination of pediatric myeloproliferative syndromes.
61
|
Gassas A...Dror Y
|
15838389 |
2005 |
| 34 |
A novel mutation in the erythropoietin receptor gene is associated with familial erythrocytosis.
61
|
Arcasoy MO...Forget BG
|
11929803 |
2002 |
| 35 |
Familial polycythemia due to truncations of the erythropoietin receptor.
61
|
Forget BG...Arcasoy MO
|
10881330 |
2000 |
| 36 |
Erythropoietin receptor mutations associated with familial erythrocytosis cause hypersensitivity to erythropoietin in the heterozygous state.
61
|
Watowich SS...de la Chapelle A
|
10498627 |
1999 |
| 37 |
A human erythropoietin receptor gene mutant causing familial erythrocytosis is associated with deregulation of the rates of Jak2 and Stat5 inactivation.
61
|
Arcasoy MO...Forget BG
|
9923445 |
1999 |
| 38 |
Congenital erythrocytosis with elevated erythropoietin level: an incorrectly set "erythrostat"?
61
|
Manglani MV...Ettinger LJ
|
9856679 |
1998 |
| 39 |
The distal cytoplasmic domain of the erythropoietin receptor induces granulocytic differentiation in 32D cells.
61
|
Harris KW...Clare N
|
9694710 |
1998 |
| 40 |
Absence of polycythemia in a child with a unique erythropoietin receptor mutation in a family with autosomal dominant primary polycythemia.
61
|
Kralovics R...Prchal JT
|
9649565 |
1998 |
| 41 |
Physiology and function of the erythropoietin receptor.
61
|
Yoshimura A...Misawa H
|
9664155 |
1998 |
| 42 |
Erythrocytosis due to a mutation in the erythropoietin receptor gene.
61
|
Percy MJ...Pearson TC
|
9488636 |
1998 |
| 43 |
The erythropoietin receptor gene is not linked with the polycythemia phenotype in a family with autosomal dominant primary polycythemia.
61
|
Kralovics R...Prchal JT
|
9394420 |
1997 |
| 44 |
Two new EPO receptor mutations: truncated EPO receptors are most frequently associated with primary familial and congenital polycythemias.
61
|
Kralovics R...Prchal JT
|
9292543 |
1997 |
| 45 |
Familial erythrocytosis associated with a short deletion in the erythropoietin receptor gene.
61
|
Arcasoy MO...Forget BG
|
9192789 |
1997 |
| 46 |
Haemoglobin Hallamshire (beta146 HIS --> TYR): a new high oxygen affinity haemoglobin responsible for familial erythrocytosis.
61
|
Leach M...Brown K
|
9054694 |
1996 |
| 47 |
"Benign erythrocytosis" and other familial and congenital polycythemias.
61
|
Prchal JT...Sokol L
|
8982288 |
1996 |
| 48 |
Physician Education: The Erythropoietin Receptor and Signal Transduction.
61
|
Yoshimura A...Arai K
|
10388012 |
1996 |
| 49 |
Molecular analysis of the erythropoietin receptor system in patients with polycythaemia vera.
61
|
Hess G...Seliger B
|
7819104 |
1994 |
| 50 |
The molecular physiology of erythropoietin and the erythropoietin receptor.
61
|
Zhu Y...D'Andrea AD
|
9371269 |
1994 |
