Lista de obras -

Altered chemotactic response to CXCL12 in patients carrying GATA2 mutations

artículo científico publicado en 2015

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

artículo científico publicado en 2005

Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability.

artículo científico publicado en 2016

Cardiomyopathies and congenital heart diseases in Shwachman-Diamond syndrome: a national survey

artículo científico publicado en 2012

Central nervous system involvement in Erdheim-Chester disease: An observational cohort study

artículo científico publicado en 2020

Chest computed tomography findings for a cohort of children with pulmonary Langerhans cell histiocytosis

artículo científico publicado en 2020

Circulating cell-free BRAFV600E as a biomarker in children with Langerhans cell histiocytosis.

artículo científico publicado en 2017

Cladribine and cytarabine in refractory multisystem Langerhans cell histiocytosis: results of an international phase 2 study.

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

Cohen syndrome is associated with major glycosylation defects

artículo científico publicado en 2013

Congenital neutropenia in the era of genomics: classification, diagnosis, and natural history

artículo científico publicado en 2017

Congenital neutropenia: diagnosis, molecular bases and patient management

artículo científico publicado en 2011

Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry

artículo científico publicado en 2012

Distinct patterns of mutations occurring in de novo AML versus AML arising in the setting of severe congenital neutropenia

artículo científico publicado en 2007

EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome

artículo científico publicado en 2019

Epidemiology of congenital neutropenia

artículo científico

Establishment of MOS-SF36 percentile ranks in the general youth French population

artículo científico publicado en 2022

HSCT may lower leukemia risk in ELANE neutropenia: a before-after study from the French Severe Congenital Neutropenia Registry

scientific article published on 28 January 2020

High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia.

scientific article published on 06 December 2012

How to differentiate congenital from noncongenital chronic neutropenia at the first medical examination? Proposal of score: A pilot study from the French Severe Chronic Neutropenia registry

artículo científico publicado en 2017

Identification of biallelic germline variants of SRP68 in a sporadic case with severe congenital neutropenia

scientific article published on 09 April 2020

Incidence and risk factors for clinical neurodegenerative Langerhans cell histiocytosis: a longitudinal cohort study

scientific article published on 12 November 2018

Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance

artículo científico publicado en 2021

Is pegfilgrastim safe and effective in congenital neutropenia? An analysis of the French Severe Chronic Neutropenia registry

artículo científico publicado en 2009

JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia

artículo científico publicado en 2014

Long-term follow-up of children with risk organ-negative Langerhans cell histiocytosis after 2-chlorodeoxyadenosine treatment

scientific article published on 22 July 2020

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

artículo científico publicado en 2004

Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome

artículo científico publicado en 2018

Natural history of Barth syndrome: a national cohort study of 22 patients

artículo científico publicado en 2013

Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients

article

Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations

artículo científico

Neutrophil depletion impairs natural killer cell maturation, function, and homeostasis

artículo científico publicado en 2012

New somatic BRAF splicing mutation in Langerhans cell histiocytosis

artículo científico publicado en 2017

Occurrence of myelodysplastic syndrome in 2 patients with reticular dysgenesis

artículo científico publicado en 2011

Post-COVID-19 severe neutropenia

artículo científico publicado en 2020

Respiratory distress and sudden death of a patient with GSDIb chronic neutropenia: possible role of pegfilgrastim

artículo científico publicado en 2009

Severe Transitory Neonatal Neutropenia Associated with Maternal Autoimmune or Idiopathic Neutropenia

scientific article published on 01 February 2019

Severe chronic primary neutropenia in adults: report on a series of 108 patients

artículo científico publicado en 2015

TP53 mutations: the dawn of Shwachman clones

artículo científico publicado en 2018

Transient hematologic and clinical effect of E21R in a child with end-stage juvenile myelomonocytic leukemia.

artículo científico publicado en 2002

Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome

artículo científico publicado en 2011

[Granulopoeisis and leukemogenesis: lessons from congenital neutropenia].

artículo científico publicado en 2008

Lista de obras de

Altered chemotactic response to CXCL12 in patients carrying GATA2 mutations

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

Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability.

Cardiomyopathies and congenital heart diseases in Shwachman-Diamond syndrome: a national survey

Central nervous system involvement in Erdheim-Chester disease: An observational cohort study

Chest computed tomography findings for a cohort of children with pulmonary Langerhans cell histiocytosis

Circulating cell-free BRAFV600E as a biomarker in children with Langerhans cell histiocytosis.

Cladribine and cytarabine in refractory multisystem Langerhans cell histiocytosis: results of an international phase 2 study.

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

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

Cohen syndrome is associated with major glycosylation defects

Congenital neutropenia in the era of genomics: classification, diagnosis, and natural history

Congenital neutropenia: diagnosis, molecular bases and patient management

Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry

Distinct patterns of mutations occurring in de novo AML versus AML arising in the setting of severe congenital neutropenia

EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome

Epidemiology of congenital neutropenia

Establishment of MOS-SF36 percentile ranks in the general youth French population

HSCT may lower leukemia risk in ELANE neutropenia: a before-after study from the French Severe Congenital Neutropenia Registry

High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia.

How to differentiate congenital from noncongenital chronic neutropenia at the first medical examination? Proposal of score: A pilot study from the French Severe Chronic Neutropenia registry

Identification of biallelic germline variants of SRP68 in a sporadic case with severe congenital neutropenia

Incidence and risk factors for clinical neurodegenerative Langerhans cell histiocytosis: a longitudinal cohort study

Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance

Is pegfilgrastim safe and effective in congenital neutropenia? An analysis of the French Severe Chronic Neutropenia registry

JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia

Long-term follow-up of children with risk organ-negative Langerhans cell histiocytosis after 2-chlorodeoxyadenosine treatment

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

Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome

Natural history of Barth syndrome: a national cohort study of 22 patients

Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients

Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations

Neutrophil depletion impairs natural killer cell maturation, function, and homeostasis

New somatic BRAF splicing mutation in Langerhans cell histiocytosis

Occurrence of myelodysplastic syndrome in 2 patients with reticular dysgenesis

Post-COVID-19 severe neutropenia

Respiratory distress and sudden death of a patient with GSDIb chronic neutropenia: possible role of pegfilgrastim

Severe Transitory Neonatal Neutropenia Associated with Maternal Autoimmune or Idiopathic Neutropenia

Severe chronic primary neutropenia in adults: report on a series of 108 patients

TP53 mutations: the dawn of Shwachman clones

Transient hematologic and clinical effect of E21R in a child with end-stage juvenile myelomonocytic leukemia.

Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome

[Granulopoeisis and leukemogenesis: lessons from congenital neutropenia].