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Items: 1 to 20 of 976

1.

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.

2.

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.

3.

Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.

Oh KS, Khan SG, Jaspers NG, Raams A, Ueda T, Lehmann A, Friedmann PS, Emmert S, Gratchev A, Lachlan K, Lucassan A, Baker CC, Kraemer KH.

Hum Mutat. 2006 Nov;27(11):1092-103.

PMID:
16947863
4.

Functional and molecular genetic analyses of nine newly identified XPD-deficient patients reveal a novel mutation resulting in TTD as well as in XP/CS complex phenotypes.

Schäfer A, Gratchev A, Seebode C, Hofmann L, Schubert S, Laspe P, Apel A, Ohlenbusch A, Tzvetkov M, Weishaupt C, Oji V, Schön MP, Emmert S.

Exp Dermatol. 2013 Jul;22(7):486-9. doi: 10.1111/exd.12166.

PMID:
23800062
5.

Cerebro-oculo-facio-skeletal syndrome.

Suzumura H, Arisaka O.

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

PMID:
20687508
7.

A temperature-sensitive disorder in basal transcription and DNA repair in humans.

Vermeulen W, Rademakers S, Jaspers NG, Appeldoorn E, Raams A, Klein B, Kleijer WJ, Hansen LK, Hoeijmakers JH.

Nat Genet. 2001 Mar;27(3):299-303.

PMID:
11242112
8.

Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome.

Broughton BC, Thompson AF, Harcourt SA, Vermeulen W, Hoeijmakers JH, Botta E, Stefanini M, King MD, Weber CA, Cole J, et al.

Am J Hum Genet. 1995 Jan;56(1):167-74. Review.

9.

True XP group E patients have a defective UV-damaged DNA binding protein complex and mutations in DDB2 which reveal the functional domains of its p48 product.

Rapić-Otrin V, Navazza V, Nardo T, Botta E, McLenigan M, Bisi DC, Levine AS, Stefanini M.

Hum Mol Genet. 2003 Jul 1;12(13):1507-22.

10.

Cell-type-specific consequences of nucleotide excision repair deficiencies: Embryonic stem cells versus fibroblasts.

de Waard H, Sonneveld E, de Wit J, Esveldt-van Lange R, Hoeijmakers JH, Vrieling H, van der Horst GT.

DNA Repair (Amst). 2008 Oct 1;7(10):1659-69. doi: 10.1016/j.dnarep.2008.06.009.

PMID:
18634906
11.

A 3' --> 5' XPB helicase defect in repair/transcription factor TFIIH of xeroderma pigmentosum group B affects both DNA repair and transcription.

Hwang JR, Moncollin V, Vermeulen W, Seroz T, van Vuuren H, Hoeijmakers JH, Egly JM.

J Biol Chem. 1996 Jul 5;271(27):15898-904.

14.

[Trichothiodystrophy: progresssive manifestations].

Foulc P, Jumbou O, David A, Sarasin A, Stalder JF.

Ann Dermatol Venereol. 1999 Oct;126(10):703-7. French.

15.

The 14th Datta Lecture. TFIIH: from transcription to clinic.

Egly JM.

FEBS Lett. 2001 Jun 8;498(2-3):124-8. Review.

16.

A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.

Weeda G, Eveno E, Donker I, Vermeulen W, Chevallier-Lagente O, Taïeb A, Stary A, Hoeijmakers JH, Mezzina M, Sarasin A.

Am J Hum Genet. 1997 Feb;60(2):320-9.

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Xeroderma pigmentosum--Cockayne syndrome complex: a further case.

Hamel BC, Raams A, Schuitema-Dijkstra AR, Simons P, van der Burgt I, Jaspers NG, Kleijer WJ.

J Med Genet. 1996 Jul;33(7):607-10.

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