BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

200 related articles for article (PubMed ID: 25453614)

  • 1. Progressive demyelinating neuropathy correlates with clinical severity in Cockayne syndrome.
    Gitiaux C; Blin-Rochemaure N; Hully M; Echaniz-Laguna A; Calmels N; Bahi-Buisson N; Desguerre I; Dabaj I; Wehbi S; Quijano-Roy S; Laugel V
    Clin Neurophysiol; 2015 Jul; 126(7):1435-9. PubMed ID: 25453614
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome.
    Calmels N; Botta E; Jia N; Fawcett H; Nardo T; Nakazawa Y; Lanzafame M; Moriwaki S; Sugita K; Kubota M; Obringer C; Spitz MA; Stefanini M; Laugel V; Orioli D; Ogi T; Lehmann AR
    J Med Genet; 2018 May; 55(5):329-343. PubMed ID: 29572252
    [TBL] [Abstract][Full Text] [Related]  

  • 3. First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene.
    Chebly A; Corbani S; Abou Ghoch J; Mehawej C; Megarbane A; Chouery E
    BMC Med Genet; 2018 Sep; 19(1):161. PubMed ID: 30200888
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Spectrum of
    Sartorelli J; Travaglini L; Macchiaiolo M; Garone G; Gonfiantini MV; Vecchio D; Sinibaldi L; Frascarelli F; Ceccatelli V; Petrillo S; Piemonte F; Piccolo G; Novelli A; Longo D; Pro S; D'Amico A; Bertini ES; Nicita F
    Genes (Basel); 2024 Apr; 15(4):. PubMed ID: 38674442
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome.
    Wilson BT; Lochan A; Stark Z; Sutton RE
    Am J Med Genet A; 2016 Mar; 170(3):773-6. PubMed ID: 26749132
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Cockayne syndrome-derived neurons display reduced synapse density and altered neural network synchrony.
    Vessoni AT; Herai RH; Karpiak JV; Leal AM; Trujillo CA; Quinet A; Agnez Lima LF; Menck CF; Muotri AR
    Hum Mol Genet; 2016 Apr; 25(7):1271-80. PubMed ID: 26755826
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
    Laugel V; Dalloz C; Durand M; Sauvanaud F; Kristensen U; Vincent MC; Pasquier L; Odent S; Cormier-Daire V; Gener B; Tobias ES; Tolmie JL; Martin-Coignard D; Drouin-Garraud V; Heron D; Journel H; Raffo E; Vigneron J; Lyonnet S; Murday V; Gubser-Mercati D; Funalot B; Brueton L; Sanchez Del Pozo J; Muñoz E; Gennery AR; Salih M; Noruzinia M; Prescott K; Ramos L; Stark Z; Fieggen K; Chabrol B; Sarda P; Edery P; Bloch-Zupan A; Fawcett H; Pham D; Egly JM; Lehmann AR; Sarasin A; Dollfus H
    Hum Mutat; 2010 Feb; 31(2):113-26. PubMed ID: 19894250
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Identification and Characterization of a Novel Recurrent
    Zayoud K; Kraoua I; Chikhaoui A; Calmels N; Bouchoucha S; Obringer C; Crochemore C; Najjar D; Zarrouk S; Miladi N; Laugel V; Ricchetti M; Turki I; Yacoub-Youssef H
    Genes (Basel); 2021 Nov; 12(12):. PubMed ID: 34946871
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Growth charts in Cockayne syndrome type 1 and type 2.
    Baer S; Tuzin N; Kang PB; Mohammed S; Kubota M; van Ierland Y; Busa T; Rossi M; Morel G; Michot C; Baujat G; Durand M; Obringer C; Le May N; Calmels N; Laugel V
    Eur J Med Genet; 2021 Jan; 64(1):104105. PubMed ID: 33227433
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Two Cockayne Syndrome patients with a novel splice site mutation - clinical and metabolic analyses.
    Sanchez-Roman I; Lautrup S; Aamann MD; Neilan EG; Østergaard JR; Stevnsner T
    Mech Ageing Dev; 2018 Oct; 175():7-16. PubMed ID: 29944916
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Unusual neurophysiological features in Cockayne's syndrome: a report of two cases as a contribution to diagnosis and classification.
    Scaioli V; D'Arrigo S; Pantaleoni C
    Brain Dev; 2004 Jun; 26(4):273-80. PubMed ID: 15130695
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivity.
    Colella S; Nardo T; Mallery D; Borrone C; Ricci R; Ruffa G; Lehmann AR; Stefanini M
    Hum Mol Genet; 1999 May; 8(5):935-41. PubMed ID: 10196384
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Prenatal diagnosis of Cockayne syndrome type A based on the identification of two novel mutations in the ERCC8 gene.
    Conte C; D'Apice MR; Botta A; Sangiuolo F; Novelli G
    Genet Test Mol Biomarkers; 2009 Feb; 13(1):127-31. PubMed ID: 19309286
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Cockayne syndrome: the expanding clinical and mutational spectrum.
    Laugel V
    Mech Ageing Dev; 2013; 134(5-6):161-70. PubMed ID: 23428416
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Cockayne syndrome type II in a Druze isolate in Northern Israel in association with an insertion mutation in ERCC6.
    Falik-Zaccai TC; Laskar M; Kfir N; Nasser W; Slor H; Khayat M
    Am J Med Genet A; 2008 Jun; 146A(11):1423-9. PubMed ID: 18446857
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Cockayne syndrome group B cellular and biochemical functions.
    Licht CL; Stevnsner T; Bohr VA
    Am J Hum Genet; 2003 Dec; 73(6):1217-39. PubMed ID: 14639525
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Cockayne syndrome group A and B proteins function in rRNA transcription through nucleolin regulation.
    Okur MN; Lee JH; Osmani W; Kimura R; Demarest TG; Croteau DL; Bohr VA
    Nucleic Acids Res; 2020 Mar; 48(5):2473-2485. PubMed ID: 31970402
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical and Mutation Spectra of Cockayne Syndrome in India.
    Narayanan DL; Tuteja M; McIntyre AD; Hegele RA; Calmels N; Obringer C; Laugel V; Mandal K; Phadke SR
    Neurol India; 2021; 69(2):362-366. PubMed ID: 33904453
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Multisystem analyses of two Cockayne syndrome associated proteins CSA and CSB reveal shared and unique functions.
    Wu Z; Zhu X; Yu Q; Xu Y; Wang Y
    DNA Repair (Amst); 2019 Nov; 83():102696. PubMed ID: 31546172
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A possible cranio-oro-facial phenotype in Cockayne syndrome.
    Bloch-Zupan A; Rousseaux M; Laugel V; Schmittbuhl M; Mathis R; Desforges E; Koob M; Zaloszyc A; Dollfus H; Laugel V
    Orphanet J Rare Dis; 2013 Jan; 8():9. PubMed ID: 23311583
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.