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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2001 | 2 |
2004 | 1 |
2005 | 1 |
2016 | 1 |
2024 | 0 |
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5 results
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Novel 2336-2337delCT mutation in RP1 gene in a Japanese family with autosomal dominant retinitis pigmentosa.
Am J Ophthalmol. 2004 Jun;137(6):1137-9. doi: 10.1016/j.ajo.2003.12.037.
Am J Ophthalmol. 2004.
PMID: 15183808
Novel RP1L1 Variants and Genotype-Photoreceptor Microstructural Phenotype Associations in Cohort of Japanese Patients With Occult Macular Dystrophy.
Fujinami K, Kameya S, Kikuchi S, Ueno S, Kondo M, Hayashi T, Shinoda K, Machida S, Kuniyoshi K, Kawamura Y, Akahori M, Yoshitake K, Katagiri S, Nakanishi A, Sakuramoto H, Ozawa Y, Tsubota K, Yamaki K, Mizota A, Terasaki H, Miyake Y, Iwata T, Tsunoda K.
Fujinami K, et al.
Invest Ophthalmol Vis Sci. 2016 Sep 1;57(11):4837-46. doi: 10.1167/iovs.16-19670.
Invest Ophthalmol Vis Sci. 2016.
PMID: 27623337
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Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families.
Ziviello C, Simonelli F, Testa F, Anastasi M, Marzoli SB, Falsini B, Ghiglione D, Macaluso C, Manitto MP, Garrè C, Ciccodicola A, Rinaldi E, Banfi S.
Ziviello C, et al.
J Med Genet. 2005 Jul;42(7):e47. doi: 10.1136/jmg.2005.031682.
J Med Genet. 2005.
PMID: 15994872
Free PMC article.
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Molecular diagnostics for retinitis pigmentosa.
Yeung KY, Baum L, Chan WM, Lam DS, Kwok AK, Pang CP.
Yeung KY, et al.
Clin Chim Acta. 2001 Nov;313(1-2):209-15. doi: 10.1016/s0009-8981(01)00674-x.
Clin Chim Acta. 2001.
PMID: 11694261
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RP1 in Chinese: Eight novel variants and evidence that truncation of the extreme C-terminal does not cause retinitis pigmentosa.
Baum L, Chan WM, Yeung KY, Lam DS, Kwok AK, Pang CP.
Baum L, et al.
Hum Mutat. 2001 May;17(5):436. doi: 10.1002/humu.1127.
Hum Mutat. 2001.
PMID: 11317367
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