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Reconstruction faciale complexe sur mesure : un cas de remplacement total de l’articulation temporo-mandibulaire, de l’arcade zygomatique et du zygoma

Journal of stomatology, oral and maxillofacial surgery, 2017-02, Vol.118 (1), p.52-56

2017

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Isolated unilateral temporalis muscle hypertrophy: First case in an 8-year-old boy and review

Journal of stomatology, oral and maxillofacial surgery, 2018-02, Vol.119 (1), p.61-66

2018

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Custom-made implant for complex facial reconstruction: A case of total replacement of temporo-mandibular joint, zygomatic arch and malar bone

Journal of stomatology, oral and maxillofacial surgery, 2017-02, Vol.118 (1), p.52-56

2017

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Syndrome de la fissure orbitaire supérieure post-traumatique : mise au point

Revue de stomatologie, de chirurgie maxillo-faciale et de chirurgie orale, 2016-11, Vol.117 (5), p.340-350

2016

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Traumatic superior orbital fissure syndrome: Update

Revue de stomatologie, de chirurgie maxillo-faciale et de chirurgie orale, 2016-11, Vol.117 (5), p.340

2016

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Applying Cystic Fibrosis Transmembrane Conductance Regulator Genetics and CFTR2 Data to Facilitate Diagnoses

The Journal of pediatrics, 2017-02, Vol.181, p.S27-S32.e1

2017

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Nasal potential difference in cystic fibrosis diagnosis of very young children

The Journal of pediatrics, 2007-03, Vol.150 (3), p.e34-e35

2007

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Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice

Journal of cystic fibrosis, 2008-05, Vol.7 (3), p.179-196

2008

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Twenty-five years of epidemiological recording on myeloid malignancies: data from the specialized registry of hematologic malignancies of Côte d’Or (Burgundy, France)

Haematologica (Roma), 2011-01, Vol.96 (1), p.55-61

2011

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Correction of CFTR function in nasal epithelial cells from cystic fibrosis patients predicts improvement of respiratory function by CFTR modulators

Scientific reports, 2017-08, Vol.7 (1), p.7375-11, Article 7375

2017

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Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease

Blood, 2018-08, Vol.132 (5), p.469-483

2018

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Molecular and clinical features of the myeloproliferative neoplasm associated with JAK2 exon 12 mutations

Blood, 2011-03, Vol.117 (10), p.2813-2816

2011

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ECFS standards of care on CFTR-related disorders: Diagnostic criteria of CFTR dysfunction

Journal of cystic fibrosis, 2022-11, Vol.21 (6), p.922-936

2022

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Recommendations for the classification of diseases as CFTR-related disorders

Journal of cystic fibrosis, 2011-06, Vol.10, p.S86-S102

2011

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Paroxysmal nocturnal hemoglobinuria and pregnancy before the eculizumab era: the French experience

Haematologica (Roma), 2011-09, Vol.96 (9), p.1276-1283

2011

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Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anaemia with ring sideroblasts and marked thrombocytosis

Leukemia, 2013-09, Vol.27 (9), p.1826-1831

2013

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Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR gene

Journal of cystic fibrosis, 2019-07, Vol.18 (4), p.468-475

2019

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Endogenous megakaryocytic colonies underline association between megakaryocytes and calreticulin mutations in essential thrombocythemia

Haematologica (Roma), 2015-05, Vol.100 (5), p.e176

2015

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Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis: A case series and literature review

British journal of haematology, 2023-01, Vol.200 (2), p.249-255

2023

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Frequent reduction or absence of detection of the JAK2-mutated clone in JAK2V617F-positive patients within the first years of hydroxyurea therapy

Haematologica (Roma), 2008-11, Vol.93 (11), p.1723-1727

2008

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Significant increase in the apparent incidence of essential thrombocythemia related to new WHO diagnostic criteria: a population-based study

Haematologica (Roma), 2009-06, Vol.94 (6), p.865-869

2009

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Differential association of calreticulin type 1 and type 2 mutations with myelofibrosis and essential thrombocytemia: relevance for disease evolution

Leukemia, 2015-01, Vol.29 (1), p.249-252

2015

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CFTR gene variants: a predisposition factor to aquagenic palmoplantar keratoderma

British journal of dermatology (1951), 2019-11, Vol.181 (5), p.1097-1099

2019

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Reconstruction faciale complexe sur mesure : un cas de remplacement total de l’articulation temporo-mandibulaire, de l’arcade zygomatique et du zygoma

Isolated unilateral temporalis muscle hypertrophy: First case in an 8-year-old boy and review

Custom-made implant for complex facial reconstruction: A case of total replacement of temporo-mandibular joint, zygomatic arch and malar bone

Syndrome de la fissure orbitaire supérieure post-traumatique : mise au point

Traumatic superior orbital fissure syndrome: Update

Applying Cystic Fibrosis Transmembrane Conductance Regulator Genetics and CFTR2 Data to Facilitate Diagnoses

Nasal potential difference in cystic fibrosis diagnosis of very young children

Single-cell multi-omics identifies chronic inflammation as a driver of TP53-mutant leukemic evolution

Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice

Twenty-five years of epidemiological recording on myeloid malignancies: data from the specialized registry of hematologic malignancies of Côte d’Or (Burgundy, France)

Correction of CFTR function in nasal epithelial cells from cystic fibrosis patients predicts improvement of respiratory function by CFTR modulators

Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease

Molecular and clinical features of the myeloproliferative neoplasm associated with JAK2 exon 12 mutations

ECFS standards of care on CFTR-related disorders: Diagnostic criteria of CFTR dysfunction

Recommendations for the classification of diseases as CFTR-related disorders

Paroxysmal nocturnal hemoglobinuria and pregnancy before the eculizumab era: the French experience

Clinical features and course of refractory anemia with ring sideroblasts associated with marked thrombocytosis

Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anaemia with ring sideroblasts and marked thrombocytosis

Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR gene

Endogenous megakaryocytic colonies underline association between megakaryocytes and calreticulin mutations in essential thrombocythemia

Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis: A case series and literature review

Frequent reduction or absence of detection of the JAK2-mutated clone in JAK2V617F-positive patients within the first years of hydroxyurea therapy

Significant increase in the apparent incidence of essential thrombocythemia related to new WHO diagnostic criteria: a population-based study

Differential association of calreticulin type 1 and type 2 mutations with myelofibrosis and essential thrombocytemia: relevance for disease evolution

CFTR gene variants: a predisposition factor to aquagenic palmoplantar keratoderma

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