364 results on '"Pissard, Serge"'
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2. Clinical events in a long‐term prospective neonatal cohort of children with sickle cell disease: Evidence for a high disease burden without systematic preventive intensification with hydroxyurea
3. Exome sequencing for diagnosis of congenital hemolytic anemia
4. High fetal hemoglobin level is associated with increased risk of cerebral vasculopathy in children with sickle cell disease in Mayotte
5. A high level of Hb F unmasks a new case of Hb Wanjiang (β (F3‐F4) Ala87_Thr88delinsSer_Gln (HBB:c.255_264 delinsTTTTTCTCAG)) in a pregnant woman of African ancestry.
6. Prenatal management of fetal anemia due to pyruvate kinase deficiency: A case report
7. Homozygosity for the hyperunstable hemoglobin variant Hb Agrinio (HBA2:c.89T>C) leads to severe antenatal anemia: Eight new cases in three families
8. Variability of hemoglobin F expression in hemoglobin EE disease: Hematological and molecular analysis
9. Red blood cells free α‐haemoglobin pool: a biomarker to monitor the β‐thalassemia intermedia variability. The ALPHAPOOL study
10. Elevated soluble α‐hemoglobin pool in sickle cell anemia
11. Erythrocyte density in sickle cell syndromes is associated with specific clinical manifestations and hemolysis
12. Prenatal management of fetal anemia due to pyruvate kinase deficiency: A case report.
13. Does Liebig's Law of the Minimum Scale up from Species to Communities?
14. Pathophysiology of sickle cell disease is mirrored by the red blood cell metabolome
15. Haematological determinants of cardiac involvement in adults with sickle cell disease†
16. Amyl nitrite inhalation, a “volatile” anemia
17. The genetic basis of asymptomatic codon 8 frame-shift (HBB:c25_26delAA) β0-thalassaemia homozygotes
18. Selection of Maternal Human Immunodeficiency Virus Type 1 Variants in Human Placenta
19. HbF-promoting polymorphisms may specifically reduce the residual risk of cerebral vasculopathy in SCA children with alpha-thalassemia
20. Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients
21. VARIABILITY OF HEMOGLOBIN F EXPRESSION IN HEMOGLOBIN EE DISEASE: HEMATOLOGICAL AND MOLECULAR ANALYSIS: 729
22. Additional file 1 of Exome sequencing for diagnosis of congenital hemolytic anemia
23. Hb Angers: A new α2‐globin variant [α2 (140)(HC2) Tyr → Ser; HBA2 : C.422 A>C] with increased oxygen affinity leading to erythrocytosis
24. The Clinical Severity of Alpha-2 Globin Gene Variants: Homozygosity for Hb Agrinio (HBA2: c.89T>C) Leads to Severe Antenatal Anemia, about 8 Cases in 3 Families
25. Clinically relevant updates of the HbVar database of human hemoglobin variants and thalassemia mutations
26. A new gene associated with a β-thalassemia phenotype: the observation of variants in SUPT5H
27. A One-Step Real-Time PCR Assay for Rapid Prenatal Diagnosis of Sickle Cell Disease and Detection of Maternal Contamination
28. A novel epsilon gamma delta beta thalassemia presenting with pregnancy complications and severe neonatal anemia
29. New variant of unclassified congenital dyserythropoietic anaemia: the concept of the erythroid regulator?
30. Practical approach for characterization of glucose 6-phosphate dehydrogenase (G6PD) deficiency in countries with population ethnically heterogeneous: Description of seven new G6PD mutants
31. Evaluation of the free α-hemoglobin pool in red blood cells: A new test providing a scale of β-thalassemia severity
32. Appropriate thresholds for accurate screening for β-thalassemias in the newborn period: results from a French center for newborn screening
33. High fetal hemoglobin level is associated with increased risk of cerebral vasculopathy in children with sickle cell disease in Mayotte.
34. High Hb F level is associated with the risk of cerebral vasculopathy in a cohort of sickle cell children in Mayotte.
35. Characterization and identification of Hb Bart’s hydrops fetalis caused by a compound heterozygous mutation ‐‐ SEA /‐‐ CR , a novel α 0 ‐thalassemia deletion
36. Deciphering the Causal Diagnosis of Hydrops Fetalis or Unexplained Fetal Anemia Using Targeted Next Generation and Exome Sequencing
37. Red Blood Cells Free α Hemoglobin Pool: A Biomarker to Monitor Imbalanced α/Non α-Globin Chain Synthesis in β-Thalassemia Intermedia: The ALPHAPOOL Study
38. Molecular Approach to Prenatal Diagnosis of Hemoglobinopathies and Thalassemias
39. The Diagnosis of Inherited Diseases
40. An Unusual Case of Hemochromatosis Due to A New Compound Heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): Structural Implications with Respect to Binding with Transferrin Receptor 1
41. A novel mutation of the β-globin gene promoter (−102 C>A) and pitfalls in family screening
42. Decreased transfusion needs associated with hydroxyurea therapy in Algerian patients with thalassemia major or intermedia
43. Validation of a reverse-hybridization StripAssay for the simultaneous analysis of common α-thalassemia point mutations and deletions
44. Pyruvate Kinase (PK) Deficiency in Newborns: The Pitfalls of Diagnosis
45. Molecular characterisation of pyruvate kinase deficiency – concerns about the description of mutant PKLR alleles – response to van Wijk et al.
46. Pyruvate kinase deficiency in France: a 3-year study reveals 27 new mutations
47. One hundred spots parallel monitoring of DNA interactions by SPR imaging of polymer-functionalized surfaces applied to the detection of cystic fibrosis mutations
48. Hb Angers: A new α2‐globin variant [α2 (140)(HC2) Tyr → Ser; HBA2: C.422 A>C] with increased oxygen affinity leading to erythrocytosis.
49. Short in-Frame Insertions/Deletions in the Coding Sequence of the α-Globin Gene. Consequences of the 3D Structure and Resulting Phenotypes: Hb Choisy as an Example
50. A new type of hereditary persistence of fetal haemoglobin (HPFH): HPFH Tunisia beta sup + (+C - 200) sup G gamma
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