318 related articles for article (PubMed ID: 29572252)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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]
13. 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]
14. 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]
15. 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]
16. 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]
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. 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]
19. Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition.
van der Horst GT; van Steeg H; Berg RJ; van Gool AJ; de Wit J; Weeda G; Morreau H; Beems RB; van Kreijl CF; de Gruijl FR; Bootsma D; Hoeijmakers JH
Cell; 1997 May; 89(3):425-35. PubMed ID: 9150142
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
