Lehmann AR - Search Results

1

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

2

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

3

Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships.

Botta E, Offman J, Nardo T, Ricotti R, Zambruno G, Sansone D, Balestri P, Raams A, Kleijer WJ, Jaspers NG, Sarasin A, Lehmann AR, Stefanini M. Botta E, et al. Among authors: lehmann ar. Hum Mutat. 2007 Jan;28(1):92-6. doi: 10.1002/humu.20419. Hum Mutat. 2007. PMID: 16977596

4

Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.

Kashiyama K, Nakazawa Y, Pilz DT, Guo C, Shimada M, Sasaki K, Fawcett H, Wing JF, Lewin SO, Carr L, Li TS, Yoshiura K, Utani A, Hirano A, Yamashita S, Greenblatt D, Nardo T, Stefanini M, McGibbon D, Sarkany R, Fassihi H, Takahashi Y, Nagayama Y, Mitsutake N, Lehmann AR, Ogi T. Kashiyama K, et al. Among authors: lehmann ar. Am J Hum Genet. 2013 May 2;92(5):807-19. doi: 10.1016/j.ajhg.2013.04.007. Epub 2013 Apr 25. Am J Hum Genet. 2013. PMID: 23623389 Free PMC article.

5

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: lehmann ar. 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.

6

Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy.

Botta E, Nardo T, Lehmann AR, Egly JM, Pedrini AM, Stefanini M. Botta E, et al. Among authors: lehmann ar. Hum Mol Genet. 2002 Nov 1;11(23):2919-28. doi: 10.1093/hmg/11.23.2919. Hum Mol Genet. 2002. PMID: 12393803

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

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: lehmann ar. Am J Hum Genet. 1998 Jan;62(1):77-85. doi: 10.1086/301686. Am J Hum Genet. 1998. PMID: 9443879 Free PMC article.

9

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: lehmann ar. Am J Hum Genet. 1998 Oct;63(4):1036-48. doi: 10.1086/302063. Am J Hum Genet. 1998. PMID: 9758621 Free PMC article.

10

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: lehmann ar. Hum Mol Genet. 1999 May;8(5):935-41. doi: 10.1093/hmg/8.5.935. Hum Mol Genet. 1999. PMID: 10196384

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