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Items: 1 to 20 of 121

1.

Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation.

Laugel V, Dalloz C, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Valayannopoulos V, Sarasin A, Dollfus H.

J Med Genet. 2008 Sep;45(9):564-71. doi: 10.1136/jmg.2007.057141. Epub 2008 Jul 15.

PMID:
18628313
2.

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
3.

Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene.

Meira LB, Graham JM Jr, Greenberg CR, Busch DB, Doughty AT, Ziffer DW, Coleman DM, Savre-Train I, Friedberg EC.

Am J Hum Genet. 2000 Apr;66(4):1221-8. Epub 2000 Mar 15.

4.

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.

5.

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.

6.

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
7.

MICRO syndrome: an entity distinct from COFS syndrome.

Graham JM Jr, Hennekam R, Dobyns WB, Roeder E, Busch D.

Am J Med Genet A. 2004 Jul 30;128A(3):235-45. Review.

PMID:
15216543
8.

Cerebro-oculo-facio-skeletal syndrome.

Suzumura H, Arisaka O.

Adv Exp Med Biol. 2010;685:210-4. Review.

PMID:
20687508
9.

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
10.

Cerebro-oculo-facio-skeletal syndrome: further delineation.

Gershoni-Baruch R, Ludatscher RM, Lichtig C, Sujov P, Machoul I.

Am J Med Genet. 1991 Oct 1;41(1):74-7.

PMID:
1951466
11.

Cerebro-oculo-facio-skeletal (COFS) syndrome. The variability of presenting symptoms as a manifestation of two subtypes?

Casteels I, Wijnants A, Casaer P, Eggermont E, Misotten L, Fryns JP.

Genet Couns. 1991;2(1):43-6.

PMID:
1741976
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.

Differential requirement for the ATPase domain of the Cockayne syndrome group B gene in the processing of UV-induced DNA damage and 8-oxoguanine lesions in human cells.

Selzer RR, Nyaga S, Tuo J, May A, Muftuoglu M, Christiansen M, Citterio E, Brosh RM Jr, Bohr VA.

Nucleic Acids Res. 2002 Feb 1;30(3):782-93.

14.

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
15.

Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome.

Horibata K, Iwamoto Y, Kuraoka I, Jaspers NG, Kurimasa A, Oshimura M, Ichihashi M, Tanaka K.

Proc Natl Acad Sci U S A. 2004 Oct 26;101(43):15410-5. Epub 2004 Oct 14.

16.

Muscle involvement in the cerebro-oculo-facio-skeletal syndrome.

Longman C, Sewry CA, Muntoni F.

Pediatr Neurol. 2004 Feb;30(2):125-8.

PMID:
14984906
17.

The ATPase domain but not the acidic region of Cockayne syndrome group B gene product is essential for DNA repair.

Brosh RM Jr, Balajee AS, Selzer RR, Sunesen M, Proietti De Santis L, Bohr VA.

Mol Biol Cell. 1999 Nov;10(11):3583-94.

18.

Congenital cataract, microphthalmia, hypoplasia of corpus callosum and hypogenitalism: report and review of Micro syndrome.

Derbent M, Agras PI, Gedik S, Oto S, Alehan F, Saatçi U.

Am J Med Genet A. 2004 Jul 30;128A(3):232-4. Review.

PMID:
15216542
19.

The Neu-COFS (cerebro-oculo-facio-skeletal) syndrome: report of a case.

Silengo MC, Davi G, Bianco R, Biagioli M, Franceschini P, Cavallo M, Bussi G.

Clin Genet. 1984 Feb;25(2):201-4.

PMID:
6705255
20.

The transcriptional response after oxidative stress is defective in Cockayne syndrome group B cells.

Kyng KJ, May A, Brosh RM Jr, Cheng WH, Chen C, Becker KG, Bohr VA.

Oncogene. 2003 Feb 27;22(8):1135-49.

PMID:
12606941

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