47 results on '"Claustres, M"'
Search Results
2. Non-invasive prenatal diagnosis (NIPD) of cystic fibrosis: an optimized protocol using MEMO fluorescent PCR to detect the p.Phe508del mutation
3. Recommendations for the classification of diseases as CFTR-related disorders
4. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice
5. WS21.1 Modules of co-expressed genes in blood samples reveal potential modifier genes of diabetes and lung function in cystic fibrosis
6. WS21.3 Overview of shared benefits from the 6-year long collaboration between the French Cystic Fibrosis Registry and the CFTR-France genetics database
7. P012 CFTR-NGS, an expanded version of the CFTR-France database for the interpretation of whole CFTR next generation sequencing data
8. P017 Update of CFTR-France: toward a more relevant dataset for predicting the impact of rare CFTR variants
9. WS17.1 The multi-faceted nature of CFTR exonic mutations: impact on their functional classification
10. WS15.1 CysMA, a new tool for the interpretation of rare CFTR missense variants
11. P.245 - Efficiency of targeted NGS on myopathies and muscular dystrophy genes: Importance of an optimized strategy of capture, sequencing, bioinformatic analyses and multidisciplinary approach for variants detection and interpretation
12. 4 Valuable collaboration between a molecular CFTR database and a national CF registry: the French experience
13. WS17.2 Identification of CF mutations in deep intronic regions: Design of antisense oligonucleotides for a targeted therapeutic approach
14. G.P.281: Detection of homozygous and compound heterozygous deletions in TRIM32 in LGMD patients analyzed by a combined strategy of CGH-array and Massive Parallel Sequencing
15. 11 A new multiplex PCR method for the quantification of aberrant transcripts from nasal epithelial cells of patients
16. WS21.2 Non-invasive prenatal diagnosis (NIPD) of cystic fibrosis by quantitative real time mutant enrichment with 3′-modified oligonucleotides (MEMO) PCR
17. WS20.1 Role of transcription factors and microRNAs in CFTR gene expression
18. WS10.3 What can next-generation sequencing do for CF?
19. WS8.7 Preimplantation genetic diagnosis for cystic fibrosis using multiplex fluorescent PCR
20. WS8.5 Help for the interpretation of unclassified variants: example of the UMD-CFTR-France Locus Specific Database
21. WS8.6 Decision algorithm and scoring method for the classification of variants of unknown clinical significance in the CFTR gene
22. Preimplantation genetic diagnosis.
23. 5* Assessing the impact of unclassified variants on splicing of CFTR mRNA: in silico predictions versus ex vivo assays
24. UMD- CFTR-France: a model of national database for collection and analysis of extensive molecular data in CF and CFTR-related diseases ( CFTR-RD)
25. UMD-CFTR: a database dedicated to CF and CFTR-related diseases
26. Refinement of CFTR transmembrane segments by a novel prediction tool
27. Preimplantation genetic diagnosis for cystic fibrosis
28. A two-days full-scanning of the CFTR gene for simultaneous detection of point mutations and large rearrangements using High Resolution Melting analysis (HRM) in combination with quantitative real-time PCR
29. Search for population-specific CFTR mutations: How to avoid the identification of unclassified variants
30. Powerful strategy permits to rapidly characterise breakpoint junctions: essential for a better understanding of the molecular mechanism involving large rearrangements
31. The French CF Laboratory Network: seven years' experience
32. New putative cis-acting regulatory variations in the CFTR gene
33. T.P.3.05 TREAT-NMD global patients’ registries: A unified global source of information about patients with neuromuscular diseases
34. T.P.2.06 Modulation of small mutations in dystrophin “skippable” exons: In vitro studies to identify the optimal PS-AONs
35. EUROPEAN CYSTIC FIBROSIS SOCIETY CONSENSUS ON GENETIC TESTING
36. A French collaborative study indicative of a very low classical-CF penetrance of R117H; implications for genetic counselling
37. Occurrence of CFTR de novo mutations is not so rare
38. ENaC mutations in patients with CF-like disease
39. 359 Negative genetic neonatal screening for cystic fibrosis caused by compound heterozygosity for two large CFTR rearrangements
40. 27* Transcription factors: new therapeutic targets in cystic fibrosis lung disease?
41. 3* Spectrum of CFTR mutations in a group of black patients from South Africa: Identification of a novel large rearrangement
42. G.P.9.10 Clinical development of the French UMD–DMD database
43. 12 Rapid and reliable analysis of the CFTR locus in CBAVD patients
44. 27. Is isolated idiopathic pancreatitis associated with CF mutations? Scanning the whole CFTR sequences in 11 patients reveals no causing-disease alteration
45. Banques de données de mutations : enjeux et perspectives pour les maladies génétiques orphelines
46. Movement disorders in childhood: classification and genetic update
47. Anévrismes de l'aorte thoracique et/ou dissections aortiques familiaux: ne pas oublier le syndrome d'Ehlers-Danlos de type vasculaire
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