(Q37694343)

22 August 2017

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title

Eponym. Kostmann disease (English)

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22 August 2017

1

Caner Aytekin

1 reference

22 August 2017

4

Gonul Tanir

1 reference

22 August 2017

3

Nilden Tuygun

1 reference

22 August 2017

Manuela Germeshausen

2

1 reference

22 August 2017

Figen Dogu

series ordinal

5

1 reference

22 August 2017

Aydan Ikinciogullari

series ordinal

6

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22 August 2017

publication date

18 February 2010

1 reference

European Journal of Pediatrics

22 August 2017

published in

1 reference

22 August 2017

volume

169

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22 August 2017

issue

6

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22 August 2017

page(s)

657-660

1 reference

https://scigraph.springernature.com/pub.10.1007/s00431-010-1149-z

22 August 2017

exact match

0 references

cites work

Severe congenital neutropenia: inheritance and pathophysiology

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00431-010-1149-Z

Hematopoietic stem cell transplantation in severe congenital neutropenia: experience of the French SCN register

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Congenital neutropenia syndromes

1 reference

12 December 2020

Dysregulation of myeloid-specific transcription factors in congenital neutropenia

1 reference

12 December 2020

Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations

1 reference

12 December 2020

A syndrome with congenital neutropenia and mutations in G6PC3

1 reference

12 December 2020

Infantile genetic agranulocytosis; agranulocytosis infantilis hereditaria

1 reference

12 December 2020

Stem cell transplantation in patients with severe congenital neutropenia without evidence of leukemic transformation.

1 reference

12 December 2020

Periodontal disease in patients from the original Kostmann family with severe congenital neutropenia

1 reference

12 December 2020

Effects of recombinant human granulocyte colony-stimulating factor on neutropenia in patients with congenital agranulocytosis

1 reference

12 December 2020

Genetic insights into congenital neutropenia

1 reference

12 December 2020

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

1 reference

12 December 2020

G-CSF receptor mutations in patients with congenital neutropenia

1 reference

12 December 2020

Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis: Results of a long-term survey.

1 reference

12 December 2020

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

1 reference

12 December 2020

Neutrophil elastase is severely down-regulated in severe congenital neutropenia independent of ELA2 or HAX1 mutations but dependent on LEF-1

1 reference

12 December 2020

Historical review. Inherited bone marrow failure: the men behind the empty space

1 reference

12 December 2020

G-CSF treatment of severe congenital neutropenia reverses neutropenia but does not correct the underlying functional deficiency of the neutrophil in defending against microorganisms.

1 reference

12 December 2020

Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia

1 reference

12 December 2020

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

1 reference

12 December 2020

A molecular classification of congenital neutropenia syndromes

1 reference

12 December 2020

Mutations in growth factor independent-1 associated with human neutropenia block murine granulopoiesis through colony stimulating factor-1.

1 reference

12 December 2020

Severe congenital neutropenia

1 reference

12 December 2020

Severe congenital neutropenia

1 reference

12 December 2020

Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia

1 reference

12 December 2020

High incidence of significant bone loss in patients with severe congenital neutropenia (Kostmann's syndrome).

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1007/S00431-010-1149-Z

Identifiers

DOI

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22 August 2017

1 reference