(Q34787122)

4 August 2017

title

Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French Severe Congenital Neutropenia Registry (English)

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severe congenital neutropenia

4 August 2017

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14

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5

Agnès Buzyn

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Julie Bruneau

10

object named as

Julie Bruneau

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12

Eric Jeziorski

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21

Jean Donadieu

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3

Blandine Beaupain

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15

Florence Bellanger

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9

Catherine Paillard

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6

Isabelle Pellier

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4 August 2017

11

Lucile Pinson

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13

Jean Pierre Vannier

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4 August 2017

19

Patrick Lutz

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4 August 2017

Claire Desplantes

1

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4 August 2017

Marie Louise Fremond

2

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4 August 2017

Jean Luc Harousseau

4

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4 August 2017

Gaelle Roques

7

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4 August 2017

Pierre Morville

8

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4 August 2017

Norma Romero

16

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4 August 2017

Loïc de Pontual

17

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4 August 2017

Hélène Lapillonne

18

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4 August 2017

Christine Bellanné Chantelot

20

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4 August 2017

publication date

10 December 2014

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Orphanet Journal of Rare Diseases

4 August 2017

published in

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4 August 2017

volume

9

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4 August 2017

page(s)

183

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Creative Commons Attribution 4.0 International

4 August 2017

copyright license

start time

1 December 2014

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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exact match

https://scigraph.springernature.com/pub.10.1186/s13023-014-0183-8

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cites work

A novel homozygous mutation in G6PC3 presenting as cyclic neutropenia and severe congenital neutropenia in the same family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279596

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279596

G6PC3 mutations cause non-syndromic severe congenital neutropenia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279596

Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279596

Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279596

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279596

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279596

Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279596

Congenital neutropenia: diagnosis, molecular bases and patient management

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279596

G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279596

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279596

Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279596

A syndrome with congenital neutropenia and mutations in G6PC3

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279596

A patient with glycogen storage disease type Ib presenting with acute myeloid leukemia (AML) bearing monosomy 7 and translocation t(3;8)(q26;q24) after 14 years of treatment with granulocyte colony-stimulating factor (G-CSF): a case report

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279596

The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279596

Acute myelogenous leukemia and glycogen storage disease 1b.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279596

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

8 July 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0183-8

A novel G6PC3 gene mutation in a patient with severe congenital neutropenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0183-8

Mutations in the G6PC3 gene cause Dursun syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0183-8

Inflammatory bowel disease and T cell lymphopenia in G6PC3 deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0183-8

Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia. Experience of the French Severe Chronic Neutropenia Study Group

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279596

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279596

Variability of bone marrow morphology in G6PC3 mutations: Is there a genotype-phenotype correlation or age-dependent relationship?

26 October 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0183-8

A novel G6PC3 homozygous 1-bp deletion as a cause of severe congenital neutropenia

21 January 2018

1 reference

12 December 2020

Dursun Syndrome Due to G6PC3 Gene Defect has a Fluctuating Pattern in All Blood Cell Lines

1 reference

12 December 2020

A syndrome of facial dysmorphia, birth defects, myelodysplasia and immunodeficiency in three sibs of consanguineous parents

1 reference

12 December 2020

Two cases of syndromic neutropenia with a report of novel mutation in G6PC3

1 reference

12 December 2020

A novel phenotype variant of severe congenital neutropenia caused by G6PC3 deficiency

1 reference

12 December 2020

Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: results of the European Study on Glycogen Storage Disease type I

1 reference

12 December 2020

A case of syndromic neutropenia and mutation in G6PC3

1 reference

12 December 2020

Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a probable new familial syndrome with multisystem involvement

1 reference

12 December 2020

Resolution of inflammatory colitis with pegfilgrastim treatment in a case of severe congenital neutropenia due to glucose 6 phosphatase catalytic subunit-3 deficiency

1 reference

12 December 2020

[Chronic neutropenia and Crohn's disease in childhood. Report of 2 cases ]

1 reference

12 December 2020

10.1186/S13023-014-0183-8

Identifiers

DOI

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Dimensions Publication ID

4 August 2017

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4 August 2017

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