Stefanini M - Search Results

1

Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene.

Broughton BC, Berneburg M, Fawcett H, Taylor EM, Arlett CF, Nardo T, Stefanini M, Menefee E, Price VH, Queille S, Sarasin A, Bohnert E, Krutmann J, Davidson R, Kraemer KH, Lehmann AR. Broughton BC, et al. Among authors: stefanini m. Hum Mol Genet. 2001 Oct 15;10(22):2539-47. doi: 10.1093/hmg/10.22.2539. Hum Mol Genet. 2001. PMID: 11709541

2

Xeroderma pigmentosum.

Lehmann AR, McGibbon D, Stefanini M. Lehmann AR, et al. Among authors: stefanini m. Orphanet J Rare Dis. 2011 Nov 1;6:70. doi: 10.1186/1750-1172-6-70. Orphanet J Rare Dis. 2011. PMID: 22044607 Free PMC article. Review.

3

GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy.

Kuschal C, Botta E, Orioli D, Digiovanna JJ, Seneca S, Keymolen K, Tamura D, Heller E, Khan SG, Caligiuri G, Lanzafame M, Nardo T, Ricotti R, Peverali FA, Stephens R, Zhao Y, Lehmann AR, Baranello L, Levens D, Kraemer KH, Stefanini M. Kuschal C, et al. Among authors: stefanini m. Am J Hum Genet. 2016 Apr 7;98(4):627-42. doi: 10.1016/j.ajhg.2016.02.008. Epub 2016 Mar 17. Am J Hum Genet. 2016. PMID: 26996949 Free PMC article.

4

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. Broughton BC, et al. Among authors: stefanini m. Am J Hum Genet. 1995 Jan;56(1):167-74. Am J Hum Genet. 1995. PMID: 7825573 Free PMC article. Review.

5

A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy.

Stefanini M, Vermeulen W, Weeda G, Giliani S, Nardo T, Mezzina M, Sarasin A, Harper JI, Arlett CF, Hoeijmakers JH, et al. Stefanini M, et al. Am J Hum Genet. 1993 Oct;53(4):817-21. Am J Hum Genet. 1993. PMID: 8213812 Free PMC article.

6

Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.

Taylor EM, Broughton BC, Botta E, Stefanini M, Sarasin A, Jaspers NG, Fawcett H, Harcourt SA, Arlett CF, Lehmann AR. Taylor EM, et al. Among authors: stefanini m. Proc Natl Acad Sci U S A. 1997 Aug 5;94(16):8658-63. doi: 10.1073/pnas.94.16.8658. Proc Natl Acad Sci U S A. 1997. PMID: 9238033 Free PMC article.

7

Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.

Mallery DL, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR. Mallery DL, et al. Among authors: stefanini m. Am J Hum Genet. 1998 Jan;62(1):77-85. doi: 10.1086/301686. Am J Hum Genet. 1998. PMID: 9443879 Free PMC article.

8

Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity.

Botta E, Nardo T, Broughton BC, Marinoni S, Lehmann AR, Stefanini M. Botta E, et al. Among authors: stefanini m. Am J Hum Genet. 1998 Oct;63(4):1036-48. doi: 10.1086/302063. Am J Hum Genet. 1998. PMID: 9758621 Free PMC article.

9

UV damage causes uncontrolled DNA breakage in cells from patients with combined features of XP-D and Cockayne syndrome.

Berneburg M, Lowe JE, Nardo T, Araújo S, Fousteri MI, Green MH, Krutmann J, Wood RD, Stefanini M, Lehmann AR. Berneburg M, et al. Among authors: stefanini m. EMBO J. 2000 Mar 1;19(5):1157-66. doi: 10.1093/emboj/19.5.1157. EMBO J. 2000. PMID: 10698956 Free PMC article.

10

Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum.

Colella S, Nardo T, Botta E, Lehmann AR, Stefanini M. Colella S, et al. Among authors: stefanini m. Hum Mol Genet. 2000 May 1;9(8):1171-5. doi: 10.1093/hmg/9.8.1171. Hum Mol Genet. 2000. PMID: 10767341

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

654 results

Search Page

Filters