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Primary hematopoietic cells from DBA patients with mutations in RPL11 and RPS19 genes exhibit distinct erythroid phenotype in vitro

Cell death & disease, 2012-07, Vol.3 (7), p.e356-e356

2012

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Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP–sialic acid transporter

Blood, 2005-04, Vol.105 (7), p.2671-2676

2005

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Natural History of Recessive Inheritance of DMT1 Mutations

The Journal of pediatrics, 2008, Vol.152 (1), p.136-139

2008

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Mutations in Ribosomal Protein S19 Gene and Diamond Blackfan Anemia: Wide Variations in Phenotypic Expression

Blood, 1999-12, Vol.94 (12), p.4294-4306

1999

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Diamond-Blackfan anemia, ribosome and erythropoiesis

Transfusion clinique et biologique (Paris), 2010-09, Vol.17 (3), p.112-119

2010

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Natural history of hereditary spherocytosis during the first year of life

Blood, 2000-01, Vol.95 (2), p.393-397

2000

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Rare diseases health plan: outcome and expectations

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2010-06, Vol.17 (6), p.700-701

2010

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Human blood IgM “memory” B cells are circulating splenic marginal zone B cells harboring a prediversified immunoglobulin repertoire

Blood, 2004-12, Vol.104 (12), p.3647-3654

2004

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Diamond-Blackfan Anemia and Growth Status: The French Registry

The Journal of pediatrics, 2005-11, Vol.147 (5), p.669-673

2005

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Occurrence of myeloproliferative disorder in patients with Noonan syndrome

The Journal of pediatrics, 1997-06, Vol.130 (6), p.885-889

1997

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Ribosomal Protein S24 Gene Is Mutated in Diamond-Blackfan Anemia

American journal of human genetics, 2006-12, Vol.79 (6), p.1110-1118

2006

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Human parvovirus B19 infection in sickle cell anemia patient in Mali: a case-control study

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2011-09, Vol.18 (9), p.962-965

2011

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Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload

Blood, 2006-05, Vol.107 (10), p.4168-4170

2006

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Management of high risk pregnancy in sickle cell disease by a strategy of prophylactic red cell transfusion or automated red cell exchange

Transfusion clinique et biologique : journal de la Société française de transfusion sanguine, 2007-10, Vol.14 (4), p.386-392

2007

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Diamond-Blackfan anaemia: genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8 Mb

Nature genetics, 1997-08, Vol.16 (4), p.368-371

1997

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Mild dehydrated hereditary stomatocytosis revealed by marked hepatosiderosis

Clinical and laboratory haematology, 2006-08, Vol.28 (4), p.270-274

2006

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Hereditary spherocytosis: guidelines for the diagnosis and management in children

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2008-09, Vol.15 (9), p.1464-1473

2008

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Pleiotropic syndrome of dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema maps to 16q23-q24

Blood, 2000-10, Vol.96 (7), p.2599-2605

2000

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Genomewide Search for Dehydrated Hereditary Stomatocytosis (Hereditary Xerocytosis): Mapping of Locus to Chromosome 16 (16q23-qter)

American journal of human genetics, 1998-09, Vol.63 (3), p.810-816

1998

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Hereditary spherocytosis: guidelines for the diagnosis and management in children

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2009-06, Vol.16 (6), p.556-558

2009

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Protein A sepharose immunoadsorption: immunological and haemostatic effects in two cases of acquired haemophilia

British journal of haematology, 2001-09, Vol.114 (4), p.837-844

2001

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Sphérocytose héréditaire : diagnostic et prise en charge chez l’enfant

Archives de pédiatrie (Paris), 2009-06, Vol.16 (6), p.556-558

2009

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Neonatal thrombocytopenia and hidden maternal autoimmunity

British journal of haematology, 1993-07, Vol.84 (3), p.457-463

1993

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ANTENATAL PARVOVIRUS INFECTION: Clinical Implications

Pediatric hematology and oncology, 1999, Vol.16 (1), p.85-85

Tchernia, G.

1999

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Longitudinal analysis of platelet count and volume in normal pregnancy

Thrombosis and haemostasis, 1997, Vol.77 (4), p.806-807

1997

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Primary hematopoietic cells from DBA patients with mutations in RPL11 and RPS19 genes exhibit distinct erythroid phenotype in vitro

Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP–sialic acid transporter

Natural History of Recessive Inheritance of DMT1 Mutations

Mutations in Ribosomal Protein S19 Gene and Diamond Blackfan Anemia: Wide Variations in Phenotypic Expression

Diamond-Blackfan anemia, ribosome and erythropoiesis

Natural history of hereditary spherocytosis during the first year of life

Rare diseases health plan: outcome and expectations

Human blood IgM “memory” B cells are circulating splenic marginal zone B cells harboring a prediversified immunoglobulin repertoire

Diamond-Blackfan Anemia and Growth Status: The French Registry

Occurrence of myeloproliferative disorder in patients with Noonan syndrome

Ribosomal Protein S24 Gene Is Mutated in Diamond-Blackfan Anemia

Human parvovirus B19 infection in sickle cell anemia patient in Mali: a case-control study

Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload

Management of high risk pregnancy in sickle cell disease by a strategy of prophylactic red cell transfusion or automated red cell exchange

Diamond-Blackfan anaemia: genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8 Mb

Mild dehydrated hereditary stomatocytosis revealed by marked hepatosiderosis

Hereditary spherocytosis: guidelines for the diagnosis and management in children

Pleiotropic syndrome of dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema maps to 16q23-q24

Genomewide Search for Dehydrated Hereditary Stomatocytosis (Hereditary Xerocytosis): Mapping of Locus to Chromosome 16 (16q23-qter)

Hereditary spherocytosis: guidelines for the diagnosis and management in children

Protein A sepharose immunoadsorption: immunological and haemostatic effects in two cases of acquired haemophilia

Sphérocytose héréditaire : diagnostic et prise en charge chez l’enfant

Neonatal thrombocytopenia and hidden maternal autoimmunity

ANTENATAL PARVOVIRUS INFECTION: Clinical Implications

Longitudinal analysis of platelet count and volume in normal pregnancy

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