306 results on '"de Verneuil, H"'
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2. Catalase overexpression reduces UVB-induced apoptosis in a human xeroderma pigmentosum reconstructed epidermis
3. Hematopoietic stem cell gene therapy of murine protoporphyria by methylguanine-DNA-methyltransferase-mediated in vivo drug selection
4. Lentivirus-mediated gene transfer of uroporphyrinogen III synthase fully corrects the porphyric phenotype in human cells
5. Therapeutic Potential of Proteasome Inhibitors in Congenital Erythropoietic Porphyria: OC22
6. Genetic Background Affects Anemia, Iron Metabolism, Hepatic and Renal Function in a Mouse Model of Congenital Erythropoietic Porphyria (CEP): OC20
7. Successful therapeutic effect in a mouse model of erythropoietic protoporphyria by partial genetic correction and fluorescence-based selection of hematopoietic cells
8. Usefulness of a global clinical ichthyosis vulgaris scoring system for predicting common FLG null mutations in an adult caucasian population
9. Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases
10. A management algorithm for congenital erythropoietic porphyria derived from a study of 29 cases
11. Gene therapy of genetic diseases: difficulties, failures and successes: L06
12. Rapid analysis and efficient selection of human transduced primitive hematopoietic cells using the humanized S65T green fluorescent protein
13. Gene transfer of the uroporphyrinogen III synthase cDNA into haematopoietic progenitor cells in view of a future gene therapy in congenital erythropoietic porphyria
14. Congenital erythropoietic porphyria: a genotype/phenotype correlation and health-related quality of life study of 27 unrelated cases: O-14
15. Correction of the enzyme deficit of bone marrow cells in congenital erythropoietic porphyria by retroviral gene transfer
16. Protection of normal human reconstructed epidermis from UV by catalase overexpression
17. Is genotyping useful for the screening of medium-chain acyl-CoA dehydrogenase deficiency in France?
18. Protective Effects of Catalase Overexpression on UVB-Induced Apoptosis in Normal Human Keratinocytes
19. Congenital erythropoietic porphyria and gene therapy in erythropoietic porphyrias
20. Description of a New Mutation in Hepatoerythropoietic Porphyria and Prenatal Exclusion of a Homozygous Fetus
21. Hepatic porphyrin concentration and uroporphyrinogen decarboxylase activity in hepatitis C virus infection
22. SPATIAL AND TEMPORAL GENE EXPRESSION CONTROL BY LOCAL HYPERTHERMIA ON C6 GLIOMA CELL LINE.
23. The cDNA sequence of mouse uroporphyrinogen III synthase and assignment to mouse Chromosome 7
24. Hemolytic anemia repressed hepcidin level without hepatocyte iron overload: lesson from Günther disease model
25. Identification of a novel alpha1-antitrypsin variant
26. Point Mutations in the Uroporphyrinogen III Synthase Gene in Congenital Erythropoietic Porphyria (G�nther�s Disease)
27. Dosage par couplage LC-MS/MS du guanidino-acétate et de la créatine urinaires : optimisation de la technique par suppression de l’étape de dérivatisation
28. Effect of tyrosine kinase inhibitors on stemness in normal and chronic myeloid leukemia cells
29. Assignment of the human coproporphyrinogen oxidase to chromosome 9
30. Familial and sporadic porphyria cutanea: Two different diseases
31. The inherited enzymatic defect in porphyria variegata
32. Assignment of the gene for uroporphyrinogen decarboxylase to human chromosome 1 by somatic cell hybridization and specific enzyme immunoassay
33. Proteasome inhibition specifically sensitizes leukemic cells to anthracyclin-induced apoptosis through the accumulation of Bim and Bax pro-apoptotic proteins
34. Porphyrie érythropoïétique congénitale traitée par allogreffe de cellules souches hématopoïétiques
35. 807: Combined treatment of pancreatic tumour cells with bioactive food components reduces tumour growth and potentiates gemcitabine toxicity in a preclinical mouse model
36. Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients
37. Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis:Identification and characterization of six novel mutations associated with familial PCT
38. Usefulness of a global clinical ichthyosis vulgaris scoring system for predicting commonFLGnull mutations in an adult caucasian population
39. A Prospective Study of Filaggrin Null Mutations in Keratoconus Patients with or without Atopic Disorders
40. Proteasome inhibitIon specifically sensitizes leukemic cells to anthracyclin-induced apoptosis through the accumulation of Bim and Bax pro-apoptotic proteins
41. Analysis of SPINK 5, KLK 7 and FLG Genotypes in a French Atopic Dermatitis Cohort
42. A knock-in mouse model of congenital erythropoietic porphyria
43. Image-guided Control of Transgene Expression Based on Local Hyperthermia
44. Spatial and temporal control of transgene expressionin vivo using a heat-sensitive promoter and MRI-guided focused ultrasound
45. Assignment of human uroporphyrinogen I synthase locus to region 11qter by gene dosage effect
46. Control of transgene expression using local hyperthermia in combination with a heat-sensitive promoter
47. Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCT
48. Biochemical diagnosis of a fatal case of Günther's disease in a newborn with hydrops foetalis.
49. Modèle de la porphyrie érythropoïétique congénitale pour le transfert de gènes dans les cellules hématopoïétiques
50. PRENATAL DIAGNOSIS IN CONGENITAL ERYTHROPOIETIC PORPHYRIA BY METABOLIC MEASUREMENT AND DNA MUTATION ANALYSIS
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