| 1 |
A Gain-of-Function Mutation in EPO in Familial Erythrocytosis. ( 29514032
)
|
Zmajkovic J...Skoda RC
|
2018 |
| 2 |
Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease. ( 29891534
)
|
Lenglet M...Gardie B
|
2018 |
| 3 |
Genetic variants of erythropoietin (EPO) and EPO receptor genes in familial erythrocytosis. ( 30507031
)
|
Vo?anec D...Kunej T
|
2018 |
| 4 |
Hb Tarrant [α126(H9)Asp→Asn; HBA2: c.379G > A (or HBA1)] in a Chinese Family as a Cause of Familial Erythrocytosis. ( 27240426
)
|
Ip KL...Ng MH
|
2016 |
| 5 |
Clinical utility gene card for: familial erythrocytosis. ( 22274579
)
|
Hussein K...McMullin MF
|
2012 |
| 6 |
[Mutations in hypoxia-inducible factor and its regulatory molecules in familial erythrocytosis]. ( 19915370
)
|
Komatsu N
|
2009 |
| 7 |
A gain-of-function mutation in the HIF2A gene in familial erythrocytosis. ( 18184961
)
|
Percy MJ...Lee FS
|
2008 |
| 8 |
The HIF2A gene in familial erythrocytosis. ( 18450610
)
|
Eltzschig HK...Eckle T
|
2008 |
| 9 |
The HIF2A gene in familial erythrocytosis. ( 18456917
)
|
Prchal JT...Gordeuk VR
|
2008 |
| 10 |
The HIF2A gene in familial erythrocytosis. ( 18456918
)
|
Perrotta S...Della Ragione F
|
2008 |
| 11 |
A novel heterozygous HIF2AM535I mutation reinforces the role of oxygen sensing pathway disturbances in the pathogenesis of familial erythrocytosis. ( 18508787
)
|
Martini M...Larocca LM
|
2008 |
| 12 |
Familial erythrocytosis: molecular links to red blood cell control. ( 18591620
)
|
Percy MJ...Lee FS
|
2008 |
| 13 |
Familial erythrocytosis arising from a gain-of-function mutation in the HIF2A gene of the oxygen sensing pathway. ( 18711622
)
|
Percy MJ
|
2008 |
| 14 |
A novel mutation in the erythropoietin receptor gene is associated with familial erythrocytosis. ( 11929803
)
|
Arcasoy MO...Forget BG
|
2002 |
| 15 |
A human erythropoietin receptor gene mutant causing familial erythrocytosis is associated with deregulation of the rates of Jak2 and Stat5 inactivation. ( 9923445
)
|
Arcasoy MO...Forget BG
|
1999 |
| 16 |
Erythropoietin receptor mutations associated with familial erythrocytosis cause hypersensitivity to erythropoietin in the heterozygous state. ( 10498627
)
|
Watowich SS...de la Chapelle A
|
1999 |
| 17 |
Familial erythrocytosis associated with a short deletion in the erythropoietin receptor gene. ( 9192789
)
|
Arcasoy MO...Forget BG
|
1997 |
| 18 |
Haemoglobin Hallamshire (beta146 HIS --> TYR): a new high oxygen affinity haemoglobin responsible for familial erythrocytosis. ( 9054694
)
|
Leach M...Brown K
|
1996 |
| 19 |
Familial erythrocytosis genetically linked to erythropoietin receptor gene. ( 8093406
)
|
de la Chapelle A...Juvonen E
|
1993 |
| 20 |
Familial erythrocytosis with over-production of erythropoietin. ( 6667599
)
|
Hellmann A...Luzzatto L
|
1983 |
| 21 |
Autosomal Dominant familial erythrocytosis due to autonomous erythropoietin production. ( 7306703
)
|
Distelhorst CW...Adamson JW
|
1981 |
| 22 |
Hemoglobin Pitie-Salpetriere beta 34 (B16) Val replaced by Phe. A new high oxygen affinity variant associated with familial erythrocytosis. ( 7417488
)
|
Blouquit Y...Rosa J
|
1980 |
| 23 |
Familial erythrocytosis. ( 504970
)
|
Howarth C...Napier JA
|
1979 |
| 24 |
Erythropoiesis in familial erythrocytosis. ( 850518
)
|
Greenberg BR...Golde DW
|
1977 |
| 25 |
Hemoglobin Wood beta97(FG4) His replaced by Leu. A new high-oxygen-affinity hemoglobin associated with familial erythrocytosis. ( 1164511
)
|
Taketa F...Dessel BH
|
1975 |
| 26 |
Recessive familial erythrocytosis: aspects of marrow regulation in two families. ( 4694081
)
|
Adamson JW...Detter J
|
1973 |
| 27 |
Hemoglobin brigham (alpha2Abeta2100 Pro--Leu). Hemoglobin variant associated with familial erythrocytosis. ( 4719677
)
|
Lokich JJ...Ranney HM
|
1973 |
| 28 |
Two cases of familial erythrocytosis with increased erythropoietin activity in plasma and urine. ( 4746102
)
|
Yonemitsu H...Takaku F
|
1973 |
| 29 |
Familial erythrocytosis due to electrophoretically undetectable hemoglobin with impaired oxygen dissociation (hemoglobin Malmö, alpha 2 beta 2 97 gln). ( 5128393
)
|
Fairbanks VF...Boyer SH
|
1971 |
| 30 |
Familial erythrocytosis. A description of three families, one with hemoglobin Ypsilanti. ( 5687529
)
|
Glynn KP...Rucknagel DL
|
1968 |
| 31 |
Primary familial erythrocytosis. ( 6023479
)
|
Kontras SB...Romshe C
|
1967 |
| 32 |
Benign familial erythrocytosis. Report of three cases and a review of the literature. ( 5946371
)
|
Cassileth PA...Hyman GA
|
1966 |
