Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia (Q57741832)

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scholarly article by Göran Carlsson et al published 25 May 2012 in British Journal of Haematology

Language	Label	Description	Also known as
English	Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia	scholarly article by Göran Carlsson et al published 25 May 2012 in British Journal of Haematology

Statements

scholarly article

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Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia (English)

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based on heuristic

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based on heuristic

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severe congenital neutropenia

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based on heuristic

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object named as

Anders Fasth

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Kristina Lagerstedt Robinson

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Kristina Lagerstedt-Robinson

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Jan-Inge Henter

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Jan-Inge Henter

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Magnus Nordenskjöld

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Magnus Nordenskjöld

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Jan Palmblad

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8

object named as

Bengt Fadeel

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author name string

Göran Carlsson

1

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Elisabet Berglöf

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language of work or name

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publication date

25 May 2012

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British Journal of Haematology

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158

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3

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363-369

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G-CSF receptor (CSF3R) mutations in X-linked neutropenia evolving to acute myeloid leukemia or myelodysplasia.

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A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14.

1 reference

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Severe congenital neutropenia: new genes explain an old disease

1 reference

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A syndrome with congenital neutropenia and mutations in G6PC3

1 reference

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Infantile genetic agranulocytosis, morbus Kostmann: presentation of six cases from the original "Kostmann family" and a review

1 reference

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Kostmann syndrome or infantile genetic agranulocytosis, part one: celebrating 50 years of clinical and basic research on severe congenital neutropenia

1 reference

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21 January 2018

Kostmann syndrome or infantile genetic agranulocytosis, part two: Understanding the underlying genetic defects in severe congenital neutropenia

1 reference

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Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2012.09171.X

21 January 2018

Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia

1 reference

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Mutation characterization and genotype-phenotype correlation in Barth syndrome

1 reference

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HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)

1 reference

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Infantile genetic agranulocytosis. A review with presentation of ten new cases

1 reference

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Doublede novomutations ofELANE(ELA2) in a patient with severe congenital neutropenia requiring high-dose G-CSF therapy

1 reference

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21 January 2018

Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2

1 reference

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Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds

1 reference

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21 January 2018

Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia

1 reference

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21 January 2018

Management of Kostmann syndrome in the G-CSF era.

1 reference

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21 January 2018

Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2012.09171.X

21 January 2018

Compound heterozygousHAX1mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2012.09171.X

21 January 2018

Hematopoietic stem cell transplantation in severe congenital neutropenia

1 reference

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21 January 2018

Low plasma levels of the protein pro-LL-37 as an early indication of severe disease in patients with chronic neutropenia

1 reference

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21 January 2018

Identifiers

10.1111/J.1365-2141.2012.09171.X

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