28 December 2020

Amedeo Smart

Independent Medical Education

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28 December 2020 | n=11

  1. Fajac I, Girodon E.
    Genomically-guided therapies: A new era for cystic fibrosis.
    Arch Pediatr 2020;27 S:eS41-eS44.

  2. Girodon E, Fajac I.
    Arch Pediatr 2020;27 S:eS2-eS3.

  3. Ferec C, Scotet V.
    Genetics of cystic fibrosis: Basics.
    Arch Pediatr 2020;27 S:eS4-eS7.

  4. Bienvenu T, Nguyen-Khoa T.
    Current and future diagnosis of cystic fibrosis: Performance and limitations.
    Arch Pediatr 2020;27 S:eS19-eS24.

  5. Bareil C, Bergougnoux A.
    CFTR gene variants, epidemiology and molecular pathology.
    Arch Pediatr 2020;27 S:eS8-eS12.

  6. Bieth E, Nectoux J, Girardet A, Gruchy N, et al.
    Genetic counseling for cystic fibrosis: A basic model with new challenges.
    Arch Pediatr 2020;27 S:eS30-eS34.

  7. Raynal C, Corvol H.
    Variant classifications, databases and genotype-phenotype correlations.
    Arch Pediatr 2020;27 S:eS13-eS18.

  8. Castellani C.
    Conclusion and Prospects: Genetics of cystic fibrosis - an agenda for the next ten years.
    Arch Pediatr 2020;27 S:eS45-eS47.

  9. Pagin A, Sermet-Gaudelus I, Burgel PR.
    Genetic diagnosis in practice: From cystic fibrosis to CFTR-related disorders.
    Arch Pediatr 2020;27 S:eS25-eS29.

  10. Durieu I.
    Arch Pediatr 2020;27 S:eS1.

  11. Dang H, Polineni D, Pace RG, Stonebraker JR, et al.
    Mining GWAS and eQTL data for CF lung disease modifiers by gene expression imputation.
    PLoS One 2020;15:e0239189.

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28 December 2020

Multidisciplinary Journal Club

  1. Lu TX, Dapas M, Lin E, Peters T, et al.
    The influence of proton pump inhibitor therapy on the outcome of infliximab therapy in inflammatory bowel disease: a patient-level meta-analysis of randomised controlled studies.
    Gut. 2020 Dec 17. pii: gutjnl-2020-321609. doi: 10.1136/gutjnl-2020-321609.

  2. Croop R, Lipton RB, Kudrow D, Stock DA, et al.
    Oral rimegepant for preventive treatment of migraine: a phase 2/3, randomised, double-blind, placebo-controlled trial.
    Lancet. 2020 Dec 15. pii: S0140-6736(20)32544.

  3. Yang X, Leslie G, Doroszuk A, Schneider S, et al.
    Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families.
    J Clin Oncol. 2020;38:674-685.

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