Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

105 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
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: sarkany r. 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.
A Distinct Genotype of XP Complementation Group A: Surprisingly Mild Phenotype Highly Prevalent in Northern India/Pakistan/Afghanistan.
Sethi M, Haque S, Fawcett H, Wing JF, Chandler N, Mohammed S, Frayling IM, Norris PG, McGibbon D, Young AR, Sarkany RPE, Lehmann AR, Fassihi H. Sethi M, et al. Among authors: sarkany rpe. J Invest Dermatol. 2016 Apr;136(4):869-872. doi: 10.1016/j.jid.2015.12.031. Epub 2015 Dec 29. J Invest Dermatol. 2016. PMID: 26743599 Free article. No abstract available.
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.
Fassihi H, Sethi M, Fawcett H, Wing J, Chandler N, Mohammed S, Craythorne E, Morley AM, Lim R, Turner S, Henshaw T, Garrood I, Giunti P, Hedderly T, Abiona A, Naik H, Harrop G, McGibbon D, Jaspers NG, Botta E, Nardo T, Stefanini M, Young AR, Sarkany RP, Lehmann AR. Fassihi H, et al. Among authors: sarkany rp. Proc Natl Acad Sci U S A. 2016 Mar 1;113(9):E1236-45. doi: 10.1073/pnas.1519444113. Epub 2016 Feb 16. Proc Natl Acad Sci U S A. 2016. PMID: 26884178 Free PMC article.
A 'spot' diagnosis.
Sebaratnam DF, Sarkany RPE, Fassihi H. Sebaratnam DF, et al. Arch Dis Child Educ Pract Ed. 2017 Aug;102(4):220-221. doi: 10.1136/archdischild-2016-310555. Epub 2016 Apr 26. Arch Dis Child Educ Pract Ed. 2017. PMID: 27117973 No abstract available.
Xeroderma pigmentosum is a definite cause of Huntington's disease-like syndrome.
Garcia-Moreno H, Fassihi H, Sarkany RPE, Phukan J, Warner T, Lehmann AR, Giunti P. Garcia-Moreno H, et al. Among authors: sarkany rpe. Ann Clin Transl Neurol. 2017 Dec 4;5(1):102-108. doi: 10.1002/acn3.511. eCollection 2018 Jan. Ann Clin Transl Neurol. 2017. PMID: 29376097 Free PMC article.
105 results