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Pascale Fanen

universite paris-est-creteil-val-de-marne
H指数:31
被引数:3,114

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Generation of two iPSC lines carrying two cystic fibrosis rare intronic mutations c.1585-1G>A and c.1680-886A>G in the CFTR gene of the parental line PCIi033-A using CRISPR/Cas tools

利用CRISPR/Cas工具在亲本细胞系PCIi033-A的CFTR基因中引入两个囊性纤维化罕见内含子突变c.1585-1G>A和c.1680-886A>G,生成两株iPSC细胞系

2026-05-010
PRE
Phenotype-Genotype Correlations in ABCA3 Patients—The RespiRare Cohort

ABCA3患者表型-基因型相关性——RespiRare队列研究

2025-10-150
OAAI
Peptide CIGB-552 has a synergistic effect on CFTR-F508del when combined with elexacaftor/tezacaftor/ivacaftor triple therapy for cystic fibrosis

肽CIGB-552在与elexacaftor/tezacaftor/ivacaftor三联疗法联合用于治疗囊性纤维化时,对CFTR-F508del具有协同作用。

2025-08-140
PRE
Surfactant protein B deficiency: the RespiRare cohort
THORAX
IF7.7
2024-12-040
OA
Prevalence, Characteristics, and Impact on Prognosis of Aortic Stenosis in Patients With Cardiac Amyloidosis

心脏淀粉样变性患者主动脉瓣狭窄的患病率、特征及对预后的影响

2024-07-020
OAAI
High risk of lung cancer in surfactant-related gene variant carriers
2024-04-040
OAAI
Phenotype-genotype correlations of pediatric patients with biallelic mutations in ABCA3 and SFTPB surfactant-related genes
2023-10-270
OA
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

纯合子和杂合子转甲状腺素蛋白p.Val142Ile (V122I) 变体在遗传性转甲状腺素蛋白淀粉样变性患者中心脏受累、心外表现和预后的比较: 一项队列研究

2023-06-280
PRE
Natural course and determinants of short-term kidney function decline in hereditary transthyretin amyloidosis: a French observational study
2022-07-174
PRE
Acquired spherocytosis due to somatic ANK1 mutations as a manifestation of clonal hematopoiesis in elderly patients
2022-05-203
PRE
Prevalence and determinants of iron deficiency in cardiac amyloidosis
2022-02-0610
OAAI
History of extracardiac cardiac events in cardiac amyloidosis: prevalence and time from initial onset to diagnosis
2021-10-2918
OA
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

N末端脑钠肽前体和高敏肌钙蛋白T水平在运甲状腺素蛋白淀粉样心肌病自然史中的预后价值及其在Tafamidis治疗后的演变

2021-10-2217
OAAI