315 results on '"Broly, F."'
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2. Role of new generation sequencing in the diagnosis of intractable diarrhea
3. Progressive familial intrahepatic cholestasis type 3 or neonatal sclerosing cholangitis? about four Tunisian families
4. The arthrogryposis - renal dysfunction - cholestasis syndrome: A case report
5. Prevention of isoniazid toxicity by NAT2 genotyping in Senegalese tuberculosis patients
6. P756 Diagnosing rare inherited disorders using targeted next generation sequencing in patients with early-onset inflammatory bowel disease: a population-based study
7. A Case of PMM2-CDG Caused by an A108V Mutation Associated With a Heterozygous 70 Kilobases Deletion
8. Study of NAT2 genetic polymorphism in West African subjects: example of an healthy non-smoker Senegalese population
9. La pharmacogénétique moléculaire hospitalière en France : données actuelles et perspectives
10. Échec thérapeutique : peut-être une affaire de gènes ?
11. Drug extrapyramidal side effects. CYP2D6 genotypes and phenotypes
12. Characterisation of novel defective thiopurine S-methyltransferase allelic variants
13. ABCB1 Allele Polymorphism Is Associated with Virological Efficacy in Naïve HIVInfected Patients on HAART Containing Nonboosted PIs But Not Boosted PIs
14. ITPA genotyping test does not improve detection of Crohn’s disease patients at risk of azathioprine/6-mercaptopurine induced myelosuppression
15. Prediction of phenotype for acetylation and for debrisoquine hydroxylation by DNA-tests in healthy human volunteers
16. A case of refractory anemia with 17p− syndrome following azathioprine treatment for heart transplantation
17. Influence of CYP2D6*2 and CYP2D6*4 alleles on phenotype in polymedicated depressed inpatients: therapeutic consequences?
18. Thiopurine methyltransferase activity and its relationship to the occurrence of rejection episodes in paediatric renal transplant recipients treated with azathioprine
19. An additional allelic variant of the CYP2D6 gene causing impaired metabolism of sparteine
20. A nonsense mutation in the cytochrome P450 CYP2D6 gene identified in a Caucasian with an enzyme deficiency
21. Diagnosing rare inherited disorders using targeted next generation sequencing in patients with early-onset inflammatory bowel disease: a population-based study
22. Mutation intronique possiblement associée à une néphronophtise : intérêt du séquençage génome entier
23. Impact du polymorphisme génétique de la caveolin-1 du donneur en transplantation rénale
24. Adaptation posologique des anticalcineurines selon le génotypage CYP3A5 en transplantation rénale : résultats à long terme
25. Targeting the DNM3OS / miR-199a~214 cluster for the treatment of fibroproliferative diseases
26. Xanthinurie héréditaire de type 1 : à propos de trois cas
27. Apports des techniques de séquençage haut débit dans le diagnostic moléculaire des néphropathies glomérulaires héréditaires
28. Arachidonic acid omega-hydroxylase CYP4A11 : inter-ethnic variations in the 8590T > C loss-of-function variant
29. Traitement par L-Carnitine et mauvaise odeur corporelle : un effet secondaire à connaître
30. Thiopurine S-methyltransferase genotypic analysis in autoimmune bullous diseases
31. Study of ethnic differences in distribution of CYP3A5 gene polymorphisms
32. Characterisation of novel defective thiopurine S-methyltransferase allelic variants.
33. Prise en charge des schwannomes vestibulaires au cours des formes pédiatriques de neurofibromatose de type 2
34. Des polymorphismes génétiques de CYP3A5 et d’ABCB1 du donneur affectent le processus de transition épithéliomésenchymateuse des patients transplantés rénaux traités par tacrolimus
35. Implication de miR-21 dans le développement des lésions de fibrose interstitielle rénale
36. Évaluation de l’exposition professionnelle aux HAPs par le dosage urinaire de 16 métabolites mono-hydroxylés
37. Impact du polymorphisme du gène de la cavéoline-1 sur la fonction du greffon après transplantation rénale
38. Evidence for a functional genetic polymorphism of the Rho-Gtpase Rac1: Implication in azathioprine response?
39. Expression profiling of drug metabolizing enzymes in colon cell lines and intestinal biopsies
40. ABCB1Allele Polymorphism Is Associated with Virological Efficacy in Naïve HIV-Infected Patients on HAART Containing Nonboosted PIs But Not Boosted PIs
41. CYP2F1 genetic polymorphism: Identification of interethnic variations
42. Ethnic differences in the distribution ofCYP3A5gene polymorphisms
43. CYP2A13 genetic polymorphism in French Caucasian, Gabonese and Tunisian populations
44. Clomipramine, fluoxetine and CYP2D6 metabolic capacity in depressed patients
45. N-Acetyltransferase 2 Acetylation Polymorphism: Prevalence of Slow Acetylators Does Not Differ between Atopic Dermatitis Patients and Healthy Subjects
46. ITPA genotyping test does not improve detection of Crohn's disease patients at risk of azathioprine/6-mercaptopurine induced myelosuppression
47. Five novel natural allelic variants?951A>C, 1042G>A (D348N), 1156A>T (I386F), 1217G>A (C406Y) and 1291C>T (C431Y)?of the human CYP1A2 gene in a French Caucasian population
48. Detection of known and two novel (M331I and R464S) missense mutations in the human CYP1A1 gene in a French Caucasian population
49. CYP2D6 phenotype and genotype analysis in polymedicated depressed inpatients
50. Identification of 6 new polymorphisms, g.11177G>A, g.14622C>T (R49C), g.17540T>C, g.17639T>C, g.30929T>C, g.31074G>A (R454Q), in the human microsomal epoxide hydrolase gene (EPHX1) in a French population
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