134 related articles for article (PubMed ID: 35645363)
1. 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]
2. 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]
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. 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. Identification of two novel homozygous mutations in ERCC8 gene in two unrelated consanguineous families with Cockayne syndrome from Iran.
Yousefipour F; Mahjoobi F
Clin Chim Acta; 2021 Dec; 523():65-71. PubMed ID: 34461059
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Exome sequencing revealed a novel deletion in the ERCC8 gene in an Iranian family with Cockayne syndrome.
Mohammadi-Asl J; Hajjari M; Tahmasebi Birgani M; Riahi K; Nasiri H; Kollaee A
Ann Hum Genet; 2018 Sep; 82(5):304-308. PubMed ID: 30039856
[TBL] [Abstract][Full Text] [Related]
9. Homozygosity mapping and whole exome sequencing reveal a novel ERCC8 mutation in a Chinese consanguineous family with unique cerebellar ataxia.
Zhang D; Dai L; Zhou Z; Hu J; Bai Y; Guo H
Clin Chim Acta; 2019 Jul; 494():64-70. PubMed ID: 30871974
[TBL] [Abstract][Full Text] [Related]
10. A Novel Mutation in
Taghdiri M; Dastsooz H; Fardaei M; Mohammadi S; Farazi Fard MA; Faghihi MA
Front Pediatr; 2017; 5():169. PubMed ID: 28848724
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
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. 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]
15. 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]
16. 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]
17. A Novel Missense Mutation in
Gauhar Z; Tejwani L; Abdullah U; Saeed S; Shafique S; Badshah M; Choi J; Dong W; Nelson-Williams C; Lifton RP; Lim J; Raja GK
Cells; 2022 Sep; 11(19):. PubMed ID: 36231052
[TBL] [Abstract][Full Text] [Related]
18. Two Novel Heterozygous Mutations in ERCC8 Cause Cockayne Syndrome in a Chinese Patient.
Cui YP; Chen YY; Wang XM; Wang XL; Nan X; Zhao H
Pediatr Neurol; 2015 Sep; 53(3):262-5. PubMed ID: 26173784
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. A compound heterozygous mutation of ERCC8 is responsible for a family with Cockayne syndrome.
Liu MW; Hu CF; Jin JY; Xiang R; Fan LL; Li YL; Zhu L
Mol Biol Rep; 2024 Feb; 51(1):371. PubMed ID: 38411728
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]