Stefanini M - Search Results

1

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.

2

Cockayne's syndrome: correlation of clinical features with cellular sensitivity of RNA synthesis to UV irradiation.

Lehmann AR, Thompson AF, Harcourt SA, Stefanini M, Norris PG. Lehmann AR, et al. Among authors: stefanini m. J Med Genet. 1993 Aug;30(8):679-82. doi: 10.1136/jmg.30.8.679. J Med Genet. 1993. PMID: 7692050 Free PMC article.

3

Genetic analysis of twenty-two patients with Cockayne syndrome.

Stefanini M, Fawcett H, Botta E, Nardo T, Lehmann AR. Stefanini M, et al. Hum Genet. 1996 Apr;97(4):418-23. doi: 10.1007/BF02267059. Hum Genet. 1996. PMID: 8834235

4

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. Colella S, et al. Among authors: stefanini m. Hum Mol Genet. 1999 May;8(5):935-41. doi: 10.1093/hmg/8.5.935. Hum Mol Genet. 1999. PMID: 10196384

5

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

6

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

7

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.

8

Transcription-associated breaks in xeroderma pigmentosum group D cells from patients with combined features of xeroderma pigmentosum and Cockayne syndrome.

Theron T, Fousteri MI, Volker M, Harries LW, Botta E, Stefanini M, Fujimoto M, Andressoo JO, Mitchell J, Jaspers NG, McDaniel LD, Mullenders LH, Lehmann AR. Theron T, et al. Among authors: stefanini m. Mol Cell Biol. 2005 Sep;25(18):8368-78. doi: 10.1128/MCB.25.18.8368-8378.2005. Mol Cell Biol. 2005. PMID: 16135823 Free PMC article.

9

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.

10

Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome.

Calmels N, Botta E, Jia N, Fawcett H, Nardo T, Nakazawa Y, Lanzafame M, Moriwaki S, Sugita K, Kubota M, Obringer C, Spitz MA, Stefanini M, Laugel V, Orioli D, Ogi T, Lehmann AR. Calmels N, et al. Among authors: stefanini m. J Med Genet. 2018 May;55(5):329-343. doi: 10.1136/jmedgenet-2017-104877. Epub 2018 Mar 23. J Med Genet. 2018. PMID: 29572252

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