These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

135 related articles for article (PubMed ID: 21376145)

  • 1. Cockayne syndrome caused by paternally inherited 5 Mb deletion of 10q11.2 and a frameshift mutation of ERCC6.
    Ghai SJ; Shago M; Shroff M; Yoon G
    Eur J Med Genet; 2011; 54(3):272-6. PubMed ID: 21376145
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Maternal origin of a de novo microdeletion spanning the ERCC6 gene in a classic form of the Cockayne syndrome.
    Zhang H; Gao J; Ye J; Gong Z; Gu X
    Eur J Med Genet; 2011; 54(4):e389-93. PubMed ID: 21477668
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. ERCC6 founder mutation identified in Finnish patients with COFS syndrome.
    Jaakkola E; Mustonen A; Olsen P; Miettinen S; Savuoja T; Raams A; Jaspers NG; Shao H; Wu BL; Ignatius J
    Clin Genet; 2010 Dec; 78(6):541-7. PubMed ID: 20456449
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Cockayne Syndrome due to a maternally-inherited whole gene deletion of ERCC8 and a paternally-inherited ERCC8 exon 4 deletion.
    Ting TW; Brett MS; Tan ES; Shen Y; Lee SP; Lim EC; Vasanwala RF; Lek N; Thomas T; Lim KW; Tan EC
    Gene; 2015 Nov; 572(2):274-8. PubMed ID: 26210811
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Deletion of 5' sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome.
    Laugel V; Dalloz C; Stary A; Cormier-Daire V; Desguerre I; Renouil M; Fourmaintraux A; Velez-Cruz R; Egly JM; Sarasin A; Dollfus H
    Eur J Hum Genet; 2008 Mar; 16(3):320-7. PubMed ID: 18183039
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Ocular findings in a patient with Cockayne syndrome with two mutations in the ERCC6 gene.
    Wu Y; Zheng Y; Yan X; Huang Y; Jiang Y; Li H
    Ophthalmic Genet; 2017; 38(2):175-177. PubMed ID: 27186691
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. [Clinical and molecular analysis of two Chinese siblings with Cockayne syndrome].
    Zhou Z; Liu L; Wu M; Liu H; Cai Y; Sheng H; Li X; Cheng J; Li D; Huang Y
    Zhonghua Er Ke Za Zhi; 2016 Jan; 54(1):56-60. PubMed ID: 26791926
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Mitochondrial CSA and CSB: protein interactions and protection from ageing associated DNA mutations.
    Kamenisch Y; Berneburg M
    Mech Ageing Dev; 2013; 134(5-6):270-4. PubMed ID: 23562423
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.