50 results on '"Proust, Alexis"'
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2. Loss of KDM1A in GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome: a multicentre, retrospective, cohort study
3. CXCR4 Antagonist in HPV5-Associated Perianal Squamous-Cell Carcinoma
4. Antibiotic Susceptibility Profiles of Bacterial Isolates Recovered from Abscesses in Cattle and Sheep at a Slaughterhouse in Algeria
5. KDM1A genotyping and expression in 146 sporadic somatotroph pituitary adenomas
6. OR17-05 Lysine Demethylase KDM1A And Ectopic Expression Of GIP-Receptor In Somatotropinomas Of Patients With Paradoxical Response To Oral Glucose
7. Lysine demethylase KDM1A and ectopic expression of GIP-receptor in somatotropinomas of patients with paradoxical response to oral glucose
8. Whole-genome analysis reveals unexpected dynamics of mutant subclone development in a patient with JAK2-V617F-positive chronic myeloid leukemia
9. P612: Application of prenatal exome sequencing in fetuses with multiple congenital sonographic abnormalities: A report of three cases
10. AKAP9-Related Channelopathy: Novel Pathogenic Variant and Review of the Literature
11. OR04-4 Loss of KDM1A in Bilateral Macronodular Adrenal Hyperplasia With GIP-Dependent Cushing's Syndrome and in Acromegaly With Paradoxical GH Response to Oral Glucose
12. Loss of lysine demethylase KDM1A in GIP-dependent bilateral macronodular adrenal hyperplasia with Cushing's syndrome
13. OR04-4 Loss of KDM1A in Bilateral Macronodular Adrenal Hyperplasia With GIP-Dependent Cushing's Syndrome and in Acromegaly With Paradoxical GH Response to Oral Glucose
14. OR04-4 Loss of KDM1A in Bilateral Macronodular Adrenal Hyperplasia With GIP-Dependent Cushing's Syndrome and in Acromegaly With Paradoxical GH Response to Oral Glucose
15. Undetectable Production of the VIM-1 Carbapenemase in an Atlantibacter hermannii Clinical Isolate
16. Galaxy Is a Suitable Bioinformatics Platform for the Molecular Diagnosis of Human Genetic Disorders Using High-Throughput Sequencing Data Analysis: Five Years of Experience in a Clinical Laboratory
17. Loss of KDM1A in GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome: a multicentre, retrospective, cohort study.
18. Detection of 28 novel mutations in the Wiskott–Aldrich syndrome and X-linked thrombocytopenia based on multiplex PCR
19. The c.273+11dup genetic change in the WAS gene is a functionally neutral polymorphism
20. Wiskott–Aldrich syndrome presenting with early onset recurrent acute hemorrhagic edema and hyperostosis
21. The ribosomal basis of diamond-blackfan anemia: mutation and database update†
22. Identification by high-throughput sequencing of HPV variants and quasispecies that are untypeable by linear reverse blotting assay in cervical specimens
23. Genetic variants in the noncoding region of RPS19 gene in Diamond-Blackfan anemia: Potential implications for phenotypic heterogeneity
24. Decreased B cell activating factor receptor expression on peripheral lymphocytes associated with increased disease activity in primary Sjögren’s syndrome and systemic lupus erythematosus
25. Clinical and molecular variability in congenital dyserythropoietic anaemia type I
26. Recurrent V75M mutation within the Wiskott–Aldrich syndrome protein: description of a homozygous female patient
27. First prenatal case of proximal 19p13.12 microdeletion syndrome: New insights and new delineation of the syndrome
28. Default in plasma and intestinal IgA responses during acute infection by simian immunodeficiency virus
29. Loss of KDM1Ain GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome: a multicentre, retrospective, cohort study
30. Homozygous Southeast Asian ovalocytosis is a severe dyserythropoietic anemia associated with distal renal tubular acidosis
31. p52 Activation in Monomorphic B-Cell Posttransplant Lymphoproliferative Disorder/Diffuse Large B-Cell Lymphoma without BAFF-R Expression
32. Evaluation of Leukemic Stem Cell Persistence in Chronic Myeloid Leukemia (CML) Patients in Complete Molecular Remission Induced by First Line TKI Therapies
33. A Single Chronic Myeloid Leukemia (CML) Stem Cell Harboring Both BCR-ABL and JAK2-V617F Mutation Modeled by Induced Pluripotency
34. NF-κB-Mediated Modulation of Inducible Nitric Oxide Synthase Activity Controls Induction of the Epstein-Barr Virus Productive Cycle by Transforming Growth Factor Beta 1
35. Occurrence of Aortic Aneurysms in 5 Cases of Wiskott-Aldrich Syndrome
36. Genetic variants in the noncoding region ofRPS19gene in Diamond-Blackfan anemia: Potential implications for phenotypic heterogeneity
37. P52 Activation in Monomorphic B-Cell Post-Transplant Lymphoproliferative Disorders without BAFF-R Expression.
38. L’anémie de Blackfan-Diamond : un modèle de maladie ribosomique
39. Expression of the BAFF-R (BR3) Is Positive in a Minority of Diffuse Large B Cell Lymphomas and Does Not Correlate with the Germinal Center or Non Germinal Center Origin of Lymphomatous Cells.
40. The First Homozygous RPS19 Mutation Identified in a Diamond-Blackfan Anemia Patient Is Not Deleterious.
41. Proteasome Inhibitors Restore to Normal the Decreased Levels of Protein Expression and Nucleolar Localization of Various Mutant Ribosomal S19 Proteins Identified in DBA Patients.
42. Molecular Basis of Congenital Dyserythropoietic Anemia Type I in French Patients.
43. Ten novel Diamond–Blackfan anemia mutations and three polymorphisms within the rps19 gene
44. Clinical profile and genetic basis of Wiskott-Aldrich syndrome at Chandigarh, north India.
45. Postmortem Diagnosis of Diamond-Blackfan Anemia
46. Whole Genome Sequencing Of Chronic Myeloid Leukemia (CML)-Derived Induced Pluripotent Stem Cells (iPSC) Reveals Faithful Genocopying Of Highly Mutated Primary Leukemic Cells
47. Galaxy Is a Suitable Bioinformatics Platform for the Molecular Diagnosis of Human Genetic Disorders Using High-Throughput Sequencing Data Analysis: Five Years of Experience in a Clinical Laboratory.
48. NF-kappaB-mediated modulation of inducible nitric oxide synthase activity controls induction of the Epstein-Barr virus productive cycle by transforming growth factor beta 1.
49. Study of the effects of proteasome inhibitors on ribosomal protein S19 (RPS19) mutants, identified in patients with Diamond-Blackfan anemia.
50. No evidence for an association between the -871 T/C promoter polymorphism in the B-cell-activating factor gene and primary Sjögren's syndrome.
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