330 results on '"Fanen, Pascale"'
Search Results
2. Changes in amyloidosis phenotype over 11 years in a cardiac amyloidosis referral centre cohort in France
3. Real-Life Evaluation of an Algorithm for the Diagnosis of Cardiac Amyloidosis
4. Exon identity influences splicing induced by exonic variants and in silico prediction efficacy
5. Prevalence, Characteristics, and Impact on Prognosis of Aortic Stenosis in Patients With Cardiac Amyloidosis.
6. Heart Transplantation, Either Alone or Combined With Liver and Kidney, a Viable Treatment Option for Selected Patients With Severe Cardiac Amyloidosis
7. Extracardiac soft tissue uptake, evidenced on early 99mTc-HMDP SPECT/CT, helps typing cardiac amyloidosis and demonstrates high prognostic value
8. Renal Infarction and Its Consequences for Renal Function in Patients With Cardiac Amyloidosis
9. Idiopathic pulmonary fibrosis with benignSFTPCvariant and pathogenicMARS1mutations: Can't see the forest for the trees!
10. Phenotype-genotype correlations of pediatric patients with biallelic mutations in ABCA3 and SFTPB surfactant-related genes
11. Heterogeneity of lung disease associated with NK2 homeobox 1 mutations
12. A multicentric study of the disease risks and first manifestations in Hereditary transthyretin amyloidosis (ATTRv) : insights for an earlier diagnosis
13. Les amyloses cardiaques : les reconnaître et les prendre en charge
14. Pilot experience of multidisciplinary team discussion dedicated to inherited pulmonary fibrosis
15. Comparison of cardiac involvement, extracardiac manifestations and outcomes between homozygote and heterozygote transthyretin p.Val142Ile (V122I) variant in patients with hereditary transthyretin amyloidosis: a cohort study.
16. Idiopathic pulmonary fibrosis with benign SFTPC variant and pathogenic MARS1 mutations: can't see the forest for the trees!
17. Use of minigene assays as a useful tool to confirm the pathogenic role of intronic variations of theANK1gene: Report of two cases of hereditary spherocytosis
18. Amylo-AFFECT-QOL, a self-reported questionnaire to assess health-related quality of life and to determine the prognosis in cardiac amyloidosis
19. A multicentric study of the disease risks and first manifestations in hereditary transthyretin amyloidosis (ATTRv): insights for an earlier diagnosis
20. Deciphering an isolated lung phenotype of NKX2-1 frameshift pathogenic variant
21. Inherited pulmonary surfactant metabolism disorders in Argentina: Differences between patients with SFTPC and ABCA3 variants
22. Instability of Mature ABCA3 Protein: Toward a New Classification of ABCA3 Mutations?
23. Genetics of cystic fibrosis: CFTR mutation classifications toward genotype-based CF therapies
24. Variable Expression of Lung Disease Due to a Novel Homozygous ABCA3 Variant
25. Natural course and determinants of short-term kidney function decline in hereditary transthyretin amyloidosis: a French observational study
26. COMMD1 modulates noxious inflammation in cystic fibrosis
27. CFTR‐France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants
28. Use of minigene assays as a useful tool to confirm the pathogenic role of intronic variations of the ANK1 gene: Report of two cases of hereditary spherocytosis.
29. The Impact of Air Pollution on the Course of Cystic Fibrosis: A Review
30. Acquired spherocytosis due to somaticANK1mutations as a manifestation of clonal hematopoiesis in elderly patients
31. Dual Blockade of Misfolded Alpha-Sarcoglycan Degradation by Bortezomib and Givinostat Combination
32. Prevalence and determinants of iron deficiency in cardiac amyloidosis
33. New use for an old drug: COX-independent anti-inflammatory effects of sulindac in models of cystic fibrosis
34. Natural course and determinants of short-term kidney function decline in hereditary transthyretin amyloidosis: a French observational study.
35. Inherited pulmonary surfactant metabolism disorders in Argentina: Differences between patients with SFTPC and ABCA3 variants.
36. Disrupting proteasomal and autophagic degradation systems of misfolded alpha-sarcoglycan protein by bortezomib and givinostat combination
37. Assessing Cardiac Amyloidosis Subtypes by Unsupervised Phenotype Clustering Analysis
38. History of extracardiac/cardiac events in cardiac amyloidosis: prevalence and time from initial onset to diagnosis
39. Echocardiographic Patterns of Left Ventricular Diastolic Function in Cardiac Amyloidosis: An Updated Evaluation
40. Prognostic Value of N-Terminal Pro-Brain Natriuretic Peptide and High-Sensitivity Troponin T Levels in the Natural History of Transthyretin Amyloid Cardiomyopathy and Their Evolution after Tafamidis Treatment
41. Structure-Based Understanding of ABCA3 Variants
42. Small Hsps as Therapeutic Targets of Cystic Fibrosis Transmembrane Conductance Regulator Protein
43. CSN5 binds to misfolded CFTR and promotes its degradation
44. CFTR PARTNERS AS POTENTIAL MODIFIERS OF CF AIRWAY INFLAMMATION: S9.3
45. Identification of a Novel 5′ Alternative CFTR mRNA Isoform in a Patient with Nasal Polyposis and CFTR Mutations
46. Multiple thrombosis in a patient with Gardos channelopathy and a new KCNN4 mutation
47. Acquired spherocytosis due to somatic ANK1 mutations as a manifestation of clonal hematopoiesis in elderly patients.
48. Prenatal Ultrasound Suspicion of Cystic Fibrosis in a Multiethnic Population: Is Extensive CFTR Genotyping Needed?
49. Modulation of Epithelial Sodium Channel Trafficking and Function by Sodium 4-Phenylbutyrate in Human Nasal Epithelial Cells
50. A neutral variant involved in a complex CFTR allele contributes to a severe cystic fibrosis phenotype
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