(Q44446379)

3 December 2017

title

Genetic analysis and clinical picture of severe congenital neutropenia in Israel (English)

1 reference

severe congenital neutropenia

3 December 2017

0 references

1 reference

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25284454%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

author name string

Asaf Lebel

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25284454%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Joanne Yacobovich

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25284454%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Tanya Krasnov

3

1 reference

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4 June 2020

Ariel Koren

4

1 reference

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4 June 2020

Chaim Kaplinsky

6

1 reference

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4 June 2020

Shoshana Ravel-Vilk

7

1 reference

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4 June 2020

Ruth Laor

8

1 reference

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4 June 2020

Dina Attias

9

1 reference

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4 June 2020

Ayelet Ben Barak

10

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4 June 2020

Dalia Shtager

11

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4 June 2020

Jerry Stein

12

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4 June 2020

Amir Kuperman

13

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4 June 2020

Hagit Miskin

14

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4 June 2020

Orly Dgany

15

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4 June 2020

Neelam Giri

16

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4 June 2020

Blanche P Alter

17

1 reference

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4 June 2020

Hannah Tamary

18

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4 June 2020

publication date

4 October 2014

1 reference

3 December 2017

published in

Pediatric Blood Cancer

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25284454%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

volume

62

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4 June 2020

issue

1

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4 June 2020

page(s)

103-108

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25284454%20AND%20SRC:MED&resulttype=core&format=json

Congenital neutropenia syndromes

4 June 2020

cites work

1 reference

21 January 2018

Congenital neutropenia

1 reference

Lessons from congenital neutropenia: 50 years of progress in understanding myelopoiesis

21 January 2018

1 reference

Congenital neutropenia: diagnosis, molecular bases and patient management

21 January 2018

1 reference

Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis.

21 January 2018

1 reference

Genetic and molecular diagnosis of severe congenital neutropenia.

21 January 2018

1 reference

Genetic etiologies of severe congenital neutropenia

21 January 2018

1 reference

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

21 January 2018

1 reference

A syndrome with congenital neutropenia and mutations in G6PC3

21 January 2018

1 reference

Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia

21 January 2018

1 reference

Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3.

21 January 2018

1 reference

Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropenia

21 January 2018

1 reference

A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations

21 January 2018

1 reference

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

21 January 2018

1 reference

Genetic heterogeneity in severe congenital neutropenia: how many aberrant pathways can kill a neutrophil?

21 January 2018

1 reference

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

21 January 2018

1 reference

The many causes of severe congenital neutropenia

21 January 2018

1 reference

Novel genetic etiologies of severe congenital neutropenia

21 January 2018

1 reference

Genetic insights into congenital neutropenia

21 January 2018

1 reference

Genetics and pathophysiology of severe congenital neutropenia syndromes unrelated to neutrophil elastase

21 January 2018

1 reference

A congenital neutrophil defect syndrome associated with mutations in VPS45.

21 January 2018

1 reference

Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry.

21 January 2018

1 reference

Digenic mutations in severe congenital neutropenia

21 January 2018

1 reference

Progression of interleukin-2 (IL-2)-dependent rat T cell lymphoma lines to IL-2-independent growth following activation of a gene (Gfi-1) encoding a novel zinc finger protein

21 January 2018

1 reference

A variant allele of Growth Factor Independence 1 (GFI1) is associated with acute myeloid leukemia

21 January 2018

1 reference

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

21 January 2018

1 reference

Mosaic tetraploidy and transientGFI1mutation in a patient with severe chronic neutropenia

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/PBC.25251

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25284454%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

1 reference