Lista de obras -

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

artículo científico publicado en 2012

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

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

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

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

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

artículo científico publicado en 2009

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

Occurrence of myelodysplastic syndrome in 2 patients with reticular dysgenesis

artículo científico publicado en 2011

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

[Granulopoeisis and leukemogenesis: lessons from congenital neutropenia].

artículo científico publicado en 2008

Lista de obras de

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

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

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

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

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

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

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

Occurrence of myelodysplastic syndrome in 2 patients with reticular dysgenesis

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

[Granulopoeisis and leukemogenesis: lessons from congenital neutropenia].