717 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. 844 Improvement of in vivo survival of mesenchymal stromal cells in immunodeficient mice
4. 290 Strategies to improve in vivo survival of Mesenchymal Stromal Cells after injection in immunodeficient mice
5. The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy
6. 102 Citrullinated histone H3, a marker for neutrophil extracellular traps, is associated with poorer prognosis in recessive dystrophic epidermolysis bullosa patients with cutaneous squamous cell carcinoma
7. Variabilité phénotypique et corrélations génotype-phénotype des dystrophinopathies : contribution des banques de données
8. Recommendations for the classification of diseases as CFTR-related disorders
9. Dystonies monogéniques : l’hypothèse dopaminergique revisitée
10. Preimplantation genetic diagnosis for cystic fibrosis: the Montpellier centerʼs 10-year experience
11. Dystrophic epidermolysis bullosa pruriginosa: a new case series of a rare phenotype unveils skewed Th2 immunity
12. 183 Dystrophic epidermolysis bullosa pruriginosa: a new case series of a rare phenotype unveils skewed Th2 immunity
13. 228 IL-36 is a hallmark of Netherton syndrome with type I IFN, Th2 and Th9 responses distinguishing its dual clinical presentation
14. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice
15. Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?
16. 244 Identification of a long-term surviving mesenchymal stromal cells subpopulation upon intradermal injection
17. Tumor necrosis factor receptor SF10A (TNFRSF10A) SNPs correlate with corticosteroid response in Duchenne muscular dystrophy
18. Effect of mutation type and location on clinical outcome in 1,013 probands with marfan syndrome or related phenotypes and FBN1 mutations: an international study
19. First functional polymorphism in CFTR promoter that results in decreased transcriptional activity and Sp1/USF binding
20. Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe
21. A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals
22. Audiological findings in 100 USH2 patients
23. Complex allele [-102T>A+S549R(T>G)] is associated with milder forms of cystic fibrosis than allele S549R(T>G) alone
24. 884 Treatment of Netherton syndrome patients with Ixekizumab: A case series
25. WS21.3 Overview of shared benefits from the 6-year long collaboration between the French Cystic Fibrosis Registry and the CFTR-France genetics database
26. WS21.1 Modules of co-expressed genes in blood samples reveal potential modifier genes of diabetes and lung function in cystic fibrosis
27. Mutation analysis of the dystrophin gene in Southern French DMD or BMD families: from Southern blot to protein truncation test
28. The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening
29. Pathogenic FBN1 Mutations in 146 Adults Not Meeting Clinical Diagnostic Criteria for Marfan Syndrome: Further Delineation of Type 1 Fibrillinopathies and Focus on Patients With an Isolated Major Criterion
30. Strategies for preimplantation genetic diagnosis of Angelman syndrome caused by mutations in the UBE3A gene
31. TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy
32. Cystic fibrosis in Lebanon: distribution of CFTR mutations among Arab communities
33. Compliance and Pulse Wave Velocity Assessed by MRI Detect Early Aortic Impairment in Young Patients With Mutation of the Smooth Muscle Myosin Heavy Chain
34. FUNCTIONAL STUDIES OF CFTR PROMOTER VARIANTS: NEW INSIGHTS ON TRANSCRIPTIONAL REGULATORY NETWORKS THAT CONTROL CFTR EXPRESSION: 221
35. A FRENCH COLLABORATIVE STUDY INDICATIVE OF A VERY LOW CLASSICAL-CF PENETRANCE OF R117HT7; IMPLICATIONS FOR GENETIC COUNSELING: 218
36. MUTATIONS IN THE AMILORIDE-SENSITIVE EPITHELIAL SODIUM CHANNEL IN PATIENTS WITH CYSTIC FIBROSIS-LIKE DISEASE: 205⋆
37. Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands
38. Transcript analysis of CFTR frameshift mutations in lymphocytes using the reverse transcription-polymerase chain reaction technique and the protein truncation test
39. CFTR haplotypic variability for normal and mutant genes in cystic fibrosis families from southern France
40. Negative genetic neonatal screening for cystic fibrosis caused by compound heterozygosity for two large CFTR rearrangements
41. A Structured Simple Form for Ordering Genetic Tests Is Needed to Ensure Coupling of Clinical Detail (Phenotype) with DNAVariants (Genotype) to Ensure Utility in Publication and Databases†
42. THE ROLE OF ENaC MUTATIONS IN PATIENTS WITH CF IN WHOM A MUTATION CANNOT BE IDENTIFIED ON BOTH CFTR GENES: 190
43. Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%
44. An exon skipping-associated nonsense mutation in the dystrophin gene uncovers a complex interplay between multiple antagonistic splicing elements
45. TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy
46. Comparison of the protein and DNA approaches for the characterization of a β-globin chain variant, hemoglobin Cocody [β21 (B3) Asp- → Asn], in a Caucasian patient
47. Sperm segregation analysis of a (13;22) Robertsonian translocation carrier by FISH: a comparison of locus-specific probe and whole chromosome painting
48. Diagnostic pré-implantatoire
49. Diagnóstico preimplantación
50. Dystrophic epidermolysis bullosa pruriginosa: a new case series of a rare phenotype unveils skewed Th2 immunity.
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