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Year Number of Results
1995 1
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2006 1
2007 70
2011 1
2013 1
2015 1
2016 1
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Articles frequently viewed together for PMID: 17273966

77 results

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First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure.
Jaspers NG, Raams A, Silengo MC, Wijgers N, Niedernhofer LJ, Robinson AR, Giglia-Mari G, Hoogstraten D, Kleijer WJ, Hoeijmakers JH, Vermeulen W. Jaspers NG, et al. Am J Hum Genet. 2007 Mar;80(3):457-66. doi: 10.1086/512486. Epub 2007 Jan 29. Am J Hum Genet. 2007. PMID: 17273966 Free PMC article.
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. 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.
CHD5 is a tumor suppressor at human 1p36.
Bagchi A, Papazoglu C, Wu Y, Capurso D, Brodt M, Francis D, Bredel M, Vogel H, Mills AA. Bagchi A, et al. Cell. 2007 Feb 9;128(3):459-75. doi: 10.1016/j.cell.2006.11.052. Cell. 2007. PMID: 17289567 Free article.
Acute postnatal ablation of Hif-2alpha results in anemia.
Gruber M, Hu CJ, Johnson RS, Brown EJ, Keith B, Simon MC. Gruber M, et al. Proc Natl Acad Sci U S A. 2007 Feb 13;104(7):2301-6. doi: 10.1073/pnas.0608382104. Epub 2007 Feb 6. Proc Natl Acad Sci U S A. 2007. PMID: 17284606 Free PMC article.
77 results