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Recessive congenital methaemoglobinaemia: cytochrome b5 reductase deficiency

British journal of haematology, 2008-05, Vol.141 (3), p.298-308

2008

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Molecular diagnostics of myeloproliferative neoplasms

European journal of haematology, 2015-10, Vol.95 (4), p.270-279

2015

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Recessive congenital methaemoglobinaemia: cytochrome b(5) reductase deficiency

British journal of haematology, 2008-05, Vol.141 (3), p.298-308

2008

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A Gain-of-Function Mutation in the HIF2A Gene in Familial Erythrocytosis

The New England journal of medicine, 2008-01, Vol.358 (2), p.162-168

2008

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Cardiopulmonary function in two human disorders of the hypoxia‐inducible factor (HIF) pathway: von Hippel‐Lindau disease and HIF‐2α gain‐of‐function mutation

The FASEB journal, 2011-06, Vol.25 (6), p.2001-2011

2011

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

British journal of haematology, 2014-05, Vol.165 (4), p.519-528

2014

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Genetic origins and clinical phenotype of familial and acquired erythrocytosis and thrombocytosis

American journal of hematology, 2009-01, Vol.84 (1), p.46-54

2009

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A nonsynonymous LNK polymorphism associated with idiopathic erythrocytosis

American journal of hematology, 2011-11, Vol.86 (11), p.962-964

2011

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Erythrocytosis in children and adolescents-classification, characterization, and consensus recommendations for the diagnostic approach

Pediatric blood & cancer, 2013-11, Vol.60 (11), p.1734-1738

2013

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Two new mutations in the HIF2A gene associated with erythrocytosis

American journal of hematology, 2012-04, Vol.87 (4), p.439-442

2012

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Methemoglobin reductase deficiency: novel mutation is associated with a disease phenotype of intermediate severity

Journal of pediatric hematology/oncology, 2012-08, Vol.34 (6), p.457-460

2012

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A new polycythaemia vera‐associated SOCS3 SH2 mutant (SOCS3F136L) cannot regulate erythropoietin responses

British journal of haematology, 2009-11, Vol.147 (4), p.450-458

2009

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Molecular heterogeneity of familial myeloproliferative neoplasms revealed by analysis of the commonly acquired JAK2, CALR and MPL mutations

Familial cancer, 2014-12, Vol.13 (4), p.659-663

2014

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Mutations and polymorphisms in hemoglobin genes and the risk of pulmonary hypertension and death in sickle cell disease

American journal of hematology, 2008-01, Vol.83 (1), p.6-14

2008

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The V617F JAK2 mutation and the myeloproliferative disorders

Hematological oncology, 2005-09, Vol.23 (3-4), p.91-93

2005

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Erythrocytosis and the Chuvash von Hippel‐Lindau mutation

British journal of haematology, 2003-10, Vol.123 (2), p.371-372

2003

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Recessive congenital methaemoglobinaemia: cytochrome b 5 reductase deficiency

British journal of haematology, 2008-05, Vol.141 (3), p.298-308

2008

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Erythrocytosis in children and adolescents-classification, characterization, and consensus recommendations for the diagnostic approach: Erythrocytosis in Children and Adolescents

Pediatric blood & cancer, 2013-11, Vol.60 (11), p.1734-1738

2013

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The HIF2A gene in familial erythrocytosis

The New England journal of medicine, 2008-05, Vol.358 (18), p.1966; author reply 1966-1966; author reply 1967

2008

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Expression and mutational analyses of the human MAD2L1 gene in breast cancer cells

Genes chromosomes & cancer, 2000-12, Vol.29 (4), p.356-362

2000

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A novel Pro92His, and previously described, Glu255‐, double mutation of NADH‐cytochrome b5 reductase associated with apparent type I RCM

The FASEB journal, 2007, Vol.21 (6), p.A1044-A1044

2007

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A genetic disease in humans demonstrates the importance of hypoxia‐inducible factor in skeletal muscle metabolism

The FASEB journal, 2009-04, Vol.23 (S1)

2009

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A Gain-of-Function Mutation in the HIF2A Gene in Familial ErythrocytosisBrief Report

The New England journal of medicine, 2008-01, Vol.358 (2), p.162

2008

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The HIF2A Gene in Familial Erythrocytosis

The New England journal of medicine, 2008-05, Vol.358 (18), p.1965-1967

2008

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Recessive congenital methaemoglobinaemia: cytochrome b5 reductase deficiency

Molecular diagnostics of myeloproliferative neoplasms

Recessive congenital methaemoglobinaemia: cytochrome b(5) reductase deficiency

A Gain-of-Function Mutation in the HIF2A Gene in Familial Erythrocytosis

Cardiopulmonary function in two human disorders of the hypoxia‐inducible factor (HIF) pathway: von Hippel‐Lindau disease and HIF‐2α gain‐of‐function mutation

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

International external quality assurance of JAK2 V617F quantification

Genetic origins and clinical phenotype of familial and acquired erythrocytosis and thrombocytosis

A nonsynonymous LNK polymorphism associated with idiopathic erythrocytosis

Erythrocytosis in children and adolescents-classification, characterization, and consensus recommendations for the diagnostic approach

Two new mutations in the HIF2A gene associated with erythrocytosis

Methemoglobin reductase deficiency: novel mutation is associated with a disease phenotype of intermediate severity

A new polycythaemia vera‐associated SOCS3 SH2 mutant (SOCS3F136L) cannot regulate erythropoietin responses

Molecular heterogeneity of familial myeloproliferative neoplasms revealed by analysis of the commonly acquired JAK2, CALR and MPL mutations

Mutations and polymorphisms in hemoglobin genes and the risk of pulmonary hypertension and death in sickle cell disease

The V617F JAK2 mutation and the myeloproliferative disorders

Erythrocytosis and the Chuvash von Hippel‐Lindau mutation

Recessive congenital methaemoglobinaemia: cytochrome b 5 reductase deficiency

Erythrocytosis in children and adolescents-classification, characterization, and consensus recommendations for the diagnostic approach: Erythrocytosis in Children and Adolescents

The HIF2A gene in familial erythrocytosis

Expression and mutational analyses of the human MAD2L1 gene in breast cancer cells

A novel Pro92His, and previously described, Glu255‐, double mutation of NADH‐cytochrome b5 reductase associated with apparent type I RCM

A genetic disease in humans demonstrates the importance of hypoxia‐inducible factor in skeletal muscle metabolism

A Gain-of-Function Mutation in the HIF2A Gene in Familial ErythrocytosisBrief Report

The HIF2A Gene in Familial Erythrocytosis

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