Associated Papers
Sensitization of Patient-Derived Colorectal Cancer Organoids to Photon and Proton Radiation by Targeting DNA Damage Response Mechanisms.
Pape K et al.
Cancers, 2022
36291768 (PubMed )
Supplement: cancers-14-04984-s001.zip › Table_S2.xlsx › DD204
The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment.
Donato L et al.
Plos One, 2022
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
Jespersgaard C et al.
Scientific Reports, 2019
30718709 (PubMed )
Supplement: 41598_2018_38007_MOESM1_ESM.pdf
Possible protective role of the ABCA4 gene c.1268A>G missense variant in Stargardt disease and syndromic retinitis pigmentosa in a Sicilian family: Preliminary data.
D'Angelo R et al.
International Journal of Molecular Medicine, 2017
Somatic signature of brain-specific single nucleotide variations in sporadic Alzheimer's disease.
Parcerisas A et al.
Journal of Alzheimer's Disease : Jad, 2014
25024348 (PubMed )
Supplement: sj-xls-6-alz-10.3233_jad-140891.xls › P3H
Detection of novel mutations that cause autosomal dominant retinitis pigmentosa in candidate genes by long-range PCR amplification and next-generation sequencing.
de Sousa Dias M et al.
Molecular Vision, 2013
Next-generation genetic testing for retinitis pigmentosa.
Neveling K et al.
Human Mutation, 2012
22334370 (PubMed )
Supplement: humu0033-0963-sd1.pdf
Differential pattern of RP1 mutations in retinitis pigmentosa.
Zhang X et al.
Molecular Vision, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_
A novel missense RP1 mutation in retinitis pigmentosa.
Chiang SW et al.
Eye (london, England), 2006
[Digenic association of RHO and RP1 genes with retinitis pigmentosa among Chinese population in Hong Kong].
Wang DY et al.
Zhonghua Yi Xue Za Zhi, 2005
[A study on localization of an autosomal dominant retinitis pigmentosa gene].
Ma X et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2002
A novel mutation of the RP1 gene (Lys778ter) associated with autosomal dominant retinitis pigmentosa.
Dietrich K et al.
The British Journal of Ophthalmology, 2002
RP1 in Chinese: Eight novel variants and evidence that truncation of the extreme C-terminal does not cause retinitis pigmentosa.
Baum L et al.
Human Mutation, 2001
A molecular case report of autosomal dominant retinitis pigmentosa: RP1/RHO sequence variants in a Turkish family.
Nalbantoglu SM et al.
Omics : a Journal of Integrative Biology, 0
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