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Items: 1 to 20 of 114

1.

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
2.

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
3.

CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism.

Cao H, Williams C, Carter M, Hegele RA.

J Hum Genet. 2004;49(1):61-3. Epub 2003 Dec 6.

PMID:
14661080
4.

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.

5.

Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects.

Ridley AJ, Colley J, Wynford-Thomas D, Jones CJ.

J Hum Genet. 2005;50(3):151-4. Epub 2005 Mar 3.

PMID:
15744458
6.

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
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.

PMID:
10196384
8.

A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage.

Nardo T, Oneda R, Spivak G, Vaz B, Mortier L, Thomas P, Orioli D, Laugel V, Stary A, Hanawalt PC, Sarasin A, Stefanini M.

Proc Natl Acad Sci U S A. 2009 Apr 14;106(15):6209-14. doi: 10.1073/pnas.0902113106. Epub 2009 Mar 27.

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. doi: 10.1089/gtmb.2008.0092.

PMID:
19309286
10.

A kindred with Cockayne syndrome caused by multiple splicing variants of the CSA gene.

Komatsu A, Suzuki S, Inagaki T, Yamashita K, Hashizume K.

Am J Med Genet A. 2004 Jul 1;128A(1):67-71.

PMID:
15211661
11.

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

PMID:
18446857
13.

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
14.
15.

Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype.

Dutrannoy V, Demuth I, Baumann U, Schindler D, Konrat K, Neitzel H, Gillessen-Kaesbach G, Radszewski J, Rothe S, Schellenberger MT, Nürnberg G, Nürnberg P, Teik KW, Nallusamy R, Reis A, Sperling K, Digweed M, Varon R.

Hum Mutat. 2010 Sep;31(9):1059-68. doi: 10.1002/humu.21315.

PMID:
20597108
16.

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 May-Jun;54(3):272-6. doi: 10.1016/j.ejmg.2011.02.008. Epub 2011 Mar 2.

PMID:
21376145
17.
18.

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. doi: 10.1111/j.1399-0004.2010.01424.x.

PMID:
20456449
19.

The current evidence for defective repair of oxidatively damaged DNA in Cockayne syndrome.

Frosina G.

Free Radic Biol Med. 2007 Jul 15;43(2):165-77. Epub 2007 Apr 10. Review.

PMID:
17603927
20.

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

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