Lehmann AR - Search Results

1

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: lehmann ar. 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

2

Trichothiodystrophy, a human DNA repair disorder with heterogeneity in the cellular response to ultraviolet light.

Lehmann AR, Arlett CF, Broughton BC, Harcourt SA, Steingrimsdottir H, Stefanini M, Malcolm A, Taylor R, Natarajan AT, Green S, et al. Lehmann AR, et al. Cancer Res. 1988 Nov 1;48(21):6090-6. Cancer Res. 1988. PMID: 2458832

3

Molecular analysis of the XP-D gene in Italian families with patients affected by trichothiodystrophy and xeroderma pigmentosum group D.

Mondello C, Nardo T, Giliani S, Arrand JE, Weber CA, Lehmann AR, Nuzzo F, Stefanini M. Mondello C, et al. Among authors: lehmann ar. Mutat Res. 1994 Mar;314(2):159-65. doi: 10.1016/0921-8777(94)90079-5. Mutat Res. 1994. PMID: 7510365

4

The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH.

Henning KA, Li L, Iyer N, McDaniel LD, Reagan MS, Legerski R, Schultz RA, Stefanini M, Lehmann AR, Mayne LV, Friedberg EC. Henning KA, et al. Among authors: lehmann ar. Cell. 1995 Aug 25;82(4):555-64. doi: 10.1016/0092-8674(95)90028-4. Cell. 1995. PMID: 7664335 Free article.

5

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. 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.

6

Correction by the ERCC2 gene of UV sensitivity and repair deficiency phenotype in a subset of trichothiodystrophy cells.

Mezzina M, Eveno E, Chevallier-Lagente O, Benoit A, Carreau M, Vermeulen W, Hoeijmakers JH, Stefanini M, Lehmann AR, Weber CA, et al. Mezzina M, et al. Among authors: lehmann ar. Carcinogenesis. 1994 Aug;15(8):1493-8. doi: 10.1093/carcin/15.8.1493. Carcinogenesis. 1994. PMID: 8055625

7

Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy.

Stefanini M, Lagomarsini P, Giliani S, Nardo T, Botta E, Peserico A, Kleijer WJ, Lehmann AR, Sarasin A. Stefanini M, et al. Among authors: lehmann ar. Carcinogenesis. 1993 Jun;14(6):1101-5. doi: 10.1093/carcin/14.6.1101. Carcinogenesis. 1993. PMID: 8508495

8

DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and cockayne syndrome resemble xeroderma pigmentosum cells.

Moriwaki S, Stefanini M, Lehmann AR, Hoeijmakers JH, Robbins JH, Rapin I, Botta E, Tanganelli B, Vermeulen W, Broughton BC, Kraemer KH. Moriwaki S, et al. Among authors: lehmann ar. J Invest Dermatol. 1996 Oct;107(4):647-53. doi: 10.1111/1523-1747.ep12584287. J Invest Dermatol. 1996. PMID: 8823375 Free article.

9

Genetic analysis of twenty-two patients with Cockayne syndrome.

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

10

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: lehmann ar. 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.

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