BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

134 related articles for article (PubMed ID: 22678879)

  • 41. Molecular and functional analysis of the large 5' promoter region of CFTR gene revealed pathogenic mutations in CF and CFTR-related disorders.
    Giordano S; Amato F; Elce A; Monti M; Iannone C; Pucci P; Seia M; Angioni A; Zarrilli F; Castaldo G; Tomaiuolo R
    J Mol Diagn; 2013 May; 15(3):331-40. PubMed ID: 23470247
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Genotype analysis of adult cystic fibrosis patients.
    Férec C; Verlingue C; Guillermit H; Quéré I; Raguénès O; Feigelson J; Audrézet MP; Moullier P; Mercier B
    Hum Mol Genet; 1993 Oct; 2(10):1557-60. PubMed ID: 7505690
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Missense variants in CFTR nucleotide-binding domains predict quantitative phenotypes associated with cystic fibrosis disease severity.
    Masica DL; Sosnay PR; Raraigh KS; Cutting GR; Karchin R
    Hum Mol Genet; 2015 Apr; 24(7):1908-17. PubMed ID: 25489051
    [TBL] [Abstract][Full Text] [Related]  

  • 44. A clinical perspective of cystic fibrosis and new genetic findings: relationship of CFTR mutations to genotype-phenotype manifestations.
    Kulczycki LL; Kostuch M; Bellanti JA
    Am J Med Genet A; 2003 Jan; 116A(3):262-7. PubMed ID: 12503104
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Variant classifications, databases and genotype-phenotype correlations.
    Raynal C; Corvol H
    Arch Pediatr; 2020 Feb; 27 Suppl 1():eS13-eS18. PubMed ID: 32172930
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Full-open and closed CFTR channels, with lateral tunnels from the cytoplasm and an alternative position of the F508 region, as revealed by molecular dynamics.
    Mornon JP; Hoffmann B; Jonic S; Lehn P; Callebaut I
    Cell Mol Life Sci; 2015 Apr; 72(7):1377-403. PubMed ID: 25287046
    [TBL] [Abstract][Full Text] [Related]  

  • 47. The p.Gly622Asp (G622D) mutation, frequently found in Reunion Island and in black populations, is associated with a wide spectrum of CF and CFTR-RD phenotypes.
    Marion H; Natacha G; Brigitte M; François C; Michel R; Corinne T; Emmanuelle G; Thierry B
    J Cyst Fibros; 2015 May; 14(3):305-9. PubMed ID: 25443471
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Comprehensive genotyping reveals novel CFTR variants in cystic fibrosis patients from the Russian Federation.
    Petrova NV; Marakhonov AV; Vasilyeva TA; Kashirskaya NY; Ginter EK; Kutsev SI; Zinchenko RA
    Clin Genet; 2019 Mar; 95(3):444-447. PubMed ID: 30548586
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Three Complex alleles associated with N1303K mutation and their molecular consequences.
    Farhat R; El-Seedy A; Pasquet MC; Corbani S; Megarbané A; Kitzis A; Ladeveze V
    Cell Mol Biol (Noisy-le-grand); 2022 Apr; 68(4):52-59. PubMed ID: 35988290
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Beta-2-adrenergic receptor polymorphisms in cystic fibrosis.
    Steagall WK; Barrow BJ; Glasgow CG; Mendoza JW; Ehrmantraut M; Lin JP; Insel PA; Moss J
    Pharmacogenet Genomics; 2007 Jun; 17(6):425-30. PubMed ID: 17502834
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Phenotypic variability of R117H-CFTR expression within monozygotic twins.
    Waller MD; Simmonds NJ
    Paediatr Respir Rev; 2016 Aug; 20 Suppl():21-3. PubMed ID: 27364092
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Double mutant alleles: are they rare?
    Savov A; Angelicheva D; Balassopoulou A; Jordanova A; Noussia-Arvanitakis S; Kalaydjieva L
    Hum Mol Genet; 1995 Jul; 4(7):1169-71. PubMed ID: 8528204
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity.
    Raraigh KS; Han ST; Davis E; Evans TA; Pellicore MJ; McCague AF; Joynt AT; Lu Z; Atalar M; Sharma N; Sheridan MB; Sosnay PR; Cutting GR
    Am J Hum Genet; 2018 Jun; 102(6):1062-1077. PubMed ID: 29805046
    [TBL] [Abstract][Full Text] [Related]  

  • 54. The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy.
    Bergougnoux A; Billet A; Ka C; Heller M; Degrugillier F; Vuillaume ML; Thoreau V; Sasorith S; Bareil C; Thèze C; Ferec C; Gac GL; Bienvenu T; Bieth E; Gaston V; Lalau G; Pagin A; Malinge MC; Dufernez F; Lemonnier L; Koenig M; Fergelot P; Claustres M; Taulan-Cadars M; Kitzis A; Reboul MP; Becq F; Fanen P; Mekki C; Audrezet MP; Girodon E; Raynal C
    J Cyst Fibros; 2023 May; 22(3):515-524. PubMed ID: 36567205
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier.
    Hinzpeter A; Aissat A; Sondo E; Costa C; Arous N; Gameiro C; Martin N; Tarze A; Weiss L; de Becdelièvre A; Costes B; Goossens M; Galietta LJ; Girodon E; Fanen P
    PLoS Genet; 2010 Oct; 6(10):. PubMed ID: 20949073
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Human genetics: One gene, twenty years.
    Pearson H
    Nature; 2009 Jul; 460(7252):164-9. PubMed ID: 19587741
    [No Abstract]   [Full Text] [Related]  

  • 57. Structural dynamics is a determinant of the functional significance of missense variants.
    Ponzoni L; Bahar I
    Proc Natl Acad Sci U S A; 2018 Apr; 115(16):4164-4169. PubMed ID: 29610305
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Towards Increasing the Clinical Relevance of In Silico Methods to Predict Pathogenic Missense Variants.
    Masica DL; Karchin R
    PLoS Comput Biol; 2016 May; 12(5):e1004725. PubMed ID: 27171182
    [No Abstract]   [Full Text] [Related]  

  • 59. Analysis of AlphaMissense data in different protein groups and structural context.
    Tordai H; Torres O; Csepi M; Padányi R; Lukács GL; Hegedűs T
    Sci Data; 2024 May; 11(1):495. PubMed ID: 38744964
    [TBL] [Abstract][Full Text] [Related]  

  • 60. The Cystic Fibrosis mutation "arms race": when less is more.
    Grody WW; Cutting GR; Watson MS
    Genet Med; 2007 Nov; 9(11):739-44. PubMed ID: 18007142
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.