List of works - Blandine Beaupain

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

scientific article published on 17 November 2012

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

scientific article

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

scientific article

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

scientific article published on 6 September 2017

Congenital neutropenia: diagnosis, molecular bases and patient management

scientific article

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

scientific article published on 25 September 2012

EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome

scientific article published on 31 May 2019

Epidemiology of congenital neutropenia

scientific article published on February 2013

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

scientific article published on 20 March 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

scientific article

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

scientific article

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

scientific article published on 18 June 2018

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

scientific article

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

scientific article published on 30 January 2014

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

scientific article published on 5 March 2012

Occurrence of myelodysplastic syndrome in 2 patients with reticular dysgenesis

scientific article published on 31 March 2011

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

scientific article published on August 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

scientific article

[Granulopoeisis and leukemogenesis: lessons from congenital neutropenia].

scientific article published in March 2008

List of works by Blandine Beaupain

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].