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Carlo Rivolta
Carlo Rivolta
IOB and Dept. of Ophthalmology, University of Basel, Basel, Switzerland
Dirección de correo verificada de iob.ch - Página principal
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The complete genome sequence of the Gram-positive bacterium Bacillus subtilis
F Kunst, N Ogasawara, I Moszer, AM Albertini, G Alloni, V Azevedo, ...
Nature 390 (6657), 249-256, 1997
47821997
Hundreds of variants clustered in genomic loci and biological pathways affect human height
H Lango Allen, K Estrada, G Lettre, SI Berndt, MN Weedon, F Rivadeneira, ...
Nature 467 (7317), 832-838, 2010
22972010
Essential Bacillus subtilis genes
K Kobayashi, SD Ehrlich, A Albertini, G Amati, KK Andersen, M Arnaud, ...
Proceedings of the National Academy of Sciences 100 (8), 4678-4683, 2003
17162003
Mapping the human genetic architecture of COVID-19
Writing group Writing group leaders Pathak Gita A. 6 Andrews Shea J. 7 Kanai ...
Nature 600 (7889), 472-477, 2021
7122021
Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits
JC Randall, TW Winkler, Z Kutalik, SI Berndt, AU Jackson, KL Monda, ...
PLoS genetics 9 (6), e1003500, 2013
4682013
The influence of age and sex on genetic associations with adult body size and shape: a large-scale genome-wide interaction study
TW Winkler, AE Justice, M Graff, L Barata, MF Feitosa, S Chu, ...
PLoS genetics 11 (10), e1005378, 2015
4252015
Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns
C Rivolta, D Sharon, MM DeAngelis, TP Dryja
Human molecular genetics 11 (10), 1219-1227, 2002
4152002
The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-β signaling pathways
T Fukada, N Civic, T Furuichi, S Shimoda, K Mishima, H Higashiyama, ...
PloS one 3 (11), e3642, 2008
3262008
Genetic evidence of assortative mating in humans
MR Robinson, A Kleinman, M Graff, AAE Vinkhuyzen, D Couper, ...
Nature Human Behaviour 1 (1), 0016, 2017
2912017
Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss
C Rivolta, EA Sweklo, EL Berson, TP Dryja
The American Journal of Human Genetics 66 (6), 1975-1978, 2000
2832000
A novel protein kinase that controls carbon catabolite repression in bacteria
J Reizer, C Hoischen, F Titgemeyer, C Rivolta, R Rabus, J Stülke, ...
Molecular microbiology 27 (6), 1157-1169, 1998
2631998
Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases
M Hanany, C Rivolta, D Sharon
Proceedings of the National Academy of Sciences 117 (5), 2710-2716, 2020
2252020
Whole-genome sequencing reveals host factors underlying critical COVID-19
A Kousathanas, E Pairo-Castineira, K Rawlik, A Stuckey, CA Odhams, ...
Nature 607 (7917), 97-103, 2022
2202022
Genomewide association study using a high-density single nucleotide polymorphism array and case-control design identifies a novel essential hypertension susceptibility locus in …
E Salvi, Z Kutalik, N Glorioso, P Benaglio, F Frau, T Kuznetsova, H Arima, ...
Hypertension 59 (2), 248-255, 2012
1792012
Comprehensive genetic landscape of uveal melanoma by whole-genome sequencing
B Royer-Bertrand, M Torsello, D Rimoldi, I El Zaoui, K Cisarova, ...
The American Journal of Human Genetics 99 (5), 1190-1198, 2016
1682016
PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa
G Tanackovic, A Ransijn, P Thibault, S Abou Elela, R Klinck, EL Berson, ...
Human molecular genetics 20 (11), 2116-2130, 2011
1682011
NANS-mediated synthesis of sialic acid is required for brain and skeletal development
CDM Van Karnebeek, L Bonafé, XY Wen, M Tarailo-Graovac, S Balzano, ...
Nature Genetics 48 (7), 777-784, 2016
1492016
Barrier to autointegration factor interacts with the cone-rod homeobox and represses its transactivation function
X Wang, S Xu, C Rivolta, LY Li, GH Peng, PK Swain, CH Sung, ...
Journal of Biological Chemistry 277 (45), 43288-43300, 2002
1452002
A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa
G Tanackovic, A Ransijn, C Ayuso, S Harper, EL Berson, C Rivolta
The American Journal of Human Genetics 88 (5), 643-649, 2011
1392011
Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa
BJ Seyedahmadi, C Rivolta, JA Keene, EL Berson, TP Dryja
Experimental eye research 79 (2), 167-173, 2004
1392004
El sistema no puede realizar la operación en estos momentos. Inténtalo de nuevo más tarde.
Artículos 1–20