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Items: 1 to 20 of 131

1.

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. doi: 10.1089/gtmb.2008.0092.

PMID:
19309286
2.

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. doi: 10.1016/j.pediatrneurol.2015.06.006. Epub 2015 Jun 14.

PMID:
26173784
3.

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 14;145(4):1397-406. Epub 2006 Nov 2.

PMID:
17084038
4.

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. doi: 10.1038/sj.ejhg.5201991. Epub 2008 Jan 9.

5.

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. doi: 10.1002/ajmg.a.37501. Epub 2016 Jan 8.

PMID:
26749132
6.

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. doi: 10.1002/humu.21154.

PMID:
19894250
7.

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 10;572(2):274-8. doi: 10.1016/j.gene.2015.07.065. Epub 2015 Jul 22.

PMID:
26210811
8.

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 1;146A(11):1423-9. doi: 10.1002/ajmg.a.32309.

PMID:
18446857
9.

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 Dec 2;9(12):e113914. doi: 10.1371/journal.pone.0113914. eCollection 2014.

10.

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 Jul-Aug;54(4):e389-93. doi: 10.1016/j.ejmg.2011.03.012. Epub 2011 Apr 6.

PMID:
21477668
11.

Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.

Graham JM Jr, Anyane-Yeboa K, Raams A, Appeldoorn E, Kleijer WJ, Garritsen VH, Busch D, Edersheim TG, Jaspers NG.

Am J Hum Genet. 2001 Aug;69(2):291-300. Epub 2001 Jul 3.

12.

[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. doi: 10.3760/cma.j.issn.1003-9406.2014.03.006. Chinese.

PMID:
24928003
13.

Cockayne syndrome: the expanding clinical and mutational spectrum.

Laugel V.

Mech Ageing Dev. 2013 May-Jun;134(5-6):161-70. doi: 10.1016/j.mad.2013.02.006. Epub 2013 Feb 18. Review.

PMID:
23428416
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. doi: 10.1038/ng.2228.

PMID:
22466612
15.

[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. doi: 10.3760/cma.j.issn.0578-1310.2016.01.013. Chinese.

PMID:
26791926
16.

[Cockayne syndrome: a new mutation in the ERCC8 gene].

Conchello-Monleón R, Peña-Segura JL, Tello-Martín Á, Monge-Galindo L, Cabrejas-Lalmolda A, Miramar MD, López-Pisón J.

Rev Neurol. 2012 Aug 16;55(4):250-1. Spanish. No abstract available.

17.

Three novel mutations responsible for Cockayne syndrome group A.

Ren Y, Saijo M, Nakatsu Y, Nakai H, Yamaizumi M, Tanaka K.

Genes Genet Syst. 2003 Feb;78(1):93-102.

18.

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. doi: 10.1016/j.clinph.2014.10.014. Epub 2014 Oct 20.

PMID:
25453614
19.

High carriers frequency of an apparently ancient founder mutation p.Tyr322X in the ERCC8 gene responsible for Cockayne syndrome among Christian Arabs in Northern Israel.

Khayat M, Hardouf H, Zlotogora J, Shalev SA.

Am J Med Genet A. 2010 Dec;152A(12):3091-4. doi: 10.1002/ajmg.a.33746.

PMID:
21108394
20.

Cockayne syndrome type A: novel mutations in eight typical patients.

Bertola DR, Cao H, Albano LM, Oliveira DP, Kok F, Marques-Dias MJ, Kim CA, Hegele RA.

J Hum Genet. 2006;51(8):701-5. Epub 2006 Jul 25.

PMID:
16865293

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