143 related articles for article (PubMed ID: 24928003)
1. [Genetic analysis for a family with Cockayne syndrome].
Chen L; Yu S; Wu W; Geng Q; Luo F; Xie J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Jun; 31(3):285-8. PubMed ID: 24928003
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. [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]
4. 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]
5. Two heterozygous mutations in the
Zhang Q; Liu M; Liu Y; Tang H; Wang T; Li H; Xiang J
J Int Med Res; 2020 Feb; 48(2):300060519877997. PubMed ID: 31558084
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
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. 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]
10. A novel ERCC6 splicing variant associated with a mild Cockayne syndrome phenotype.
Swartz JM; Akinci A; Andrew SF; Siğirci A; Hirschhorn JN; Rosenfeld RG; Dauber A; Hwa V
Horm Res Paediatr; 2014; 82(5):344-52. PubMed ID: 25376329
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. A complex intragenic rearrangement of ERCC8 in Chinese siblings with Cockayne syndrome.
Xie H; Li X; Peng J; Chen Q; Gao Z; Song X; Li W; Xiao J; Li C; Zhang T; Gusella JF; Zhong J; Chen X
Sci Rep; 2017 Mar; 7():44271. PubMed ID: 28333167
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. 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]
16. Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome.
Friedman J; Bird LM; Haas R; Robbins SL; Nahas SA; Dimmock DP; Yousefzadeh MJ; Witt MA; Niedernhofer LJ; Chowdhury S
Mol Genet Genomic Med; 2021 Jul; 9(7):e1623. PubMed ID: 34076366
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. Atypical features and de novo heterozygous mutations in two siblings with Cockayne syndrome.
Wu S; Liu Y; Zhang Q; Meng X; Huang L; Xu Z; Zhang C; Li Y; Chen T; Bai Z
Mol Genet Genomic Med; 2020 May; 8(5):e1204. PubMed ID: 32160415
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
