BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

216 related articles for article (PubMed ID: 35248096)

  • 1. Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations.
    Chikhaoui A; Kraoua I; Calmels N; Bouchoucha S; Obringer C; Zayoud K; Montagne B; M'rad R; Abdelhak S; Laugel V; Ricchetti M; Turki I; Yacoub-Youssef H
    Orphanet J Rare Dis; 2022 Mar; 17(1):121. PubMed ID: 35248096
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 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. 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]  

  • 5. A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome.
    Kleppa L; Kanavin ØJ; Klungland A; Strømme P
    Neuroscience; 2007 Apr; 145(4):1397-406. PubMed ID: 17084038
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair.
    Zhang X; Horibata K; Saijo M; Ishigami C; Ukai A; Kanno S; Tahara H; Neilan EG; Honma M; Nohmi T; Yasui A; Tanaka K
    Nat Genet; 2012 May; 44(5):593-7. PubMed ID: 22466612
    [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. Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.
    Calmels N; Greff G; Obringer C; Kempf N; Gasnier C; Tarabeux J; Miguet M; Baujat G; Bessis D; Bretones P; Cavau A; Digeon B; Doco-Fenzy M; Doray B; Feillet F; Gardeazabal J; Gener B; Julia S; Llano-Rivas I; Mazur A; Michot C; Renaldo-Robin F; Rossi M; Sabouraud P; Keren B; Depienne C; Muller J; Mandel JL; Laugel V
    Orphanet J Rare Dis; 2016 Mar; 11():26. PubMed ID: 27004399
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Multimodal imaging in a family with Cockayne syndrome with a novel pathogenic mutation in the ERCC8 gene, and significant phenotypic variability.
    Cho S; Traboulsi EI; Chiang J; Sierpina D
    Doc Ophthalmol; 2020 Aug; 141(1):89-97. PubMed ID: 32048102
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair.
    Nakazawa Y; Sasaki K; Mitsutake N; Matsuse M; Shimada M; Nardo T; Takahashi Y; Ohyama K; Ito K; Mishima H; Nomura M; Kinoshita A; Ono S; Takenaka K; Masuyama R; Kudo T; Slor H; Utani A; Tateishi S; Yamashita S; Stefanini M; Lehmann AR; Yoshiura K; Ogi T
    Nat Genet; 2012 May; 44(5):586-92. PubMed ID: 22466610
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Identification of two missense mutations of ERCC6 in three Chinese sisters with Cockayne syndrome by whole exome sequencing.
    Yu S; Chen L; Ye L; Fei L; Tang W; Tian Y; Geng Q; Yi X; Xie J
    PLoS One; 2014; 9(12):e113914. PubMed ID: 25463447
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Cockayne syndrome without UV-sensitivity in Vietnamese siblings with novel
    Duong NT; Dinh TH; Möhl BS; Hintze S; Quynh DH; Ha DTT; Ngoc ND; Dung VC; Miyake N; Hai NV; Matsumoto N; Meinke P
    Aging (Albany NY); 2022 Jun; 14(13):5299-5310. PubMed ID: 35748794
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel frame shift mutation in ERCC6 leads to a severe form of Cockayne syndrome with postnatal growth failure and early death: A case report and brief literature review.
    Kou Y; Shboul M; Wang Z; Shersheer Q; Lyu Z; Liu P; Zhao X; Tian J
    Medicine (Baltimore); 2018 Aug; 97(33):e11636. PubMed ID: 30113454
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Whole exome sequencing identifies a novel variant causing cockayne syndrome type I in a consanguineous Pakistani family.
    Zulfiqar S; Moawia A; Waseem SS; Ali Z; Ramzan S; Anjum I; Baig SM; Tariq M
    Int J Neurosci; 2024 Jun; 134(1):28-33. PubMed ID: 35645363
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage.
    Nardo T; Oneda R; Spivak G; Vaz B; Mortier L; Thomas P; Orioli D; Laugel V; Stary A; Hanawalt PC; Sarasin A; Stefanini M
    Proc Natl Acad Sci U S A; 2009 Apr; 106(15):6209-14. PubMed ID: 19329487
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Cockayne syndrome proteins CSA and CSB maintain mitochondrial homeostasis through NAD
    Okur MN; Fang EF; Fivenson EM; Tiwari V; Croteau DL; Bohr VA
    Aging Cell; 2020 Dec; 19(12):e13268. PubMed ID: 33166073
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Two novel mutations in ERCC6 cause Cockayne syndrome B in a Chinese family.
    He C; Sun M; Wang G; Yang Y; Yao L; Wu Y
    Mol Med Rep; 2017 Jun; 15(6):3957-3962. PubMed ID: 28440418
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.