You are hereUNIL > Department of Medical Genetics > Research Groups > Carlo Rivolta > Publications

Publications

 

1. Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index.
  Hoggart CJ, Venturini G, Mangino M, Gomez F, Ascari G, Zhao JH, Teumer A, Winkler TW, Tšernikova N, Luan J, Mihailov E, Ehret GB, Zhang W, Lamparter D, Esko T, Macé A, Rüeger S, Bochud PY, Barcella M, Dauvilliers Y, Benyamin B, Evans DM, Hayward C, Lopez MF, Franke L, Russo A, Heid IM, Salvi E, Vendantam S, Arking DE, Boerwinkle E, Chambers JC, Fiorito G, Grallert H, Guarrera S, Homuth G, Huffman JE, Porteous D; Generation Scotland Consortium; LifeLines Cohort study; GIANT Consortium, Moradpour D, Iranzo A, Hebebrand J, Kemp JP, Lammers GJ, Aubert V, Heim MH, Martin NG, Montgomery GW, Peraita-Adrados R, Santamaria J, Negro F, Schmidt CO, Scott RA, Spector TD, Strauch K, Völzke H, Wareham NJ, Yuan W, Bell JT, Chakravarti A, Kooner JS, Peters A, Matullo G, Wallaschofski H, Whitfield JB, Paccaud F, Vollenweider P, Bergmann S, Beckmann JS, Tafti M, Hastie ND, Cusi D, Bochud M, Frayling TM, Metspalu A, Jarvelin MR, Scherag A, Smith GD, Borecki IB, Rousson V, Hirschhorn JN, Rivolta C, Loos RJ, Kutalik Z.
  PLoS Genet. 2014 Jul 31;10(7):e1004508. doi: 10.1371/journal.pgen.1004508. eCollection 2014 Jul.
  PMID: 25078964 [PubMed - in process] Free PMC Article
  Related citations
2. Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa.
  Benaglio P, San Jose PF, Avila-Fernandez A, Ascari G, Harper S, Manes G, Ayuso C, Hamel C, Berson EL, Rivolta C.
  Mol Vis. 2014 Jun 18;20:843-51. eCollection 2014.
  PMID: 24959063 [PubMed - in process] Free PMC Article
  Related citations
3. Comparative genome analysis of Pseudomonas knackmussii B13, the first bacterium known to degrade chloroaromatic compounds.
  Miyazaki R, Bertelli C, Benaglio P, Canton J, De Coi N, Gharib WH, Gjoksi B, Goesmann A, Greub G, Harshman K, Linke B, Mikulic J, Mueller L, Nicolas D, Robinson-Rechavi M, Rivolta C, Roggo C, Roy S, Sentchilo V, Siebenthal AV, Falquet L, van der Meer JR.
  Environ Microbiol. 2014 May 7. doi: 10.1111/1462-2920.12498. [Epub ahead of print]
  PMID: 24803113 [PubMed - as supplied by publisher]
  Related citations
4. Quality control and conduct of genome-wide association meta-analyses.
  Winkler TW, Day FR, Croteau-Chonka DC, Wood AR, Locke AE, Mägi R, Ferreira T, Fall T, Graff M, Justice AE, Luan J, Gustafsson S, Randall JC, Vedantam S, Workalemahu T, Kilpeläinen TO, Scherag A, Esko T, Kutalik Z, Heid IM, Loos RJ; Genetic Investigation of Anthropometric Traits (GIANT) Consortium.
  Nat Protoc. 2014 May;9(5):1192-212. doi: 10.1038/nprot.2014.071. Epub 2014 Apr 24.
  PMID: 24762786 [PubMed - in process]
  Related citations
5. Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.
  Nishiguchi KM, Avila-Fernandez A, van Huet RA, Corton M, Pérez-Carro R, Martín-Garrido E, López-Molina MI, Blanco-Kelly F, Hoefsloot LH, van Zelst-Stams WA, García-Ruiz PJ, Del Val J, Di Gioia SA, Klevering BJ, van de Warrenburg BP, Vazquez C, Cremers FP, García-Sandoval B, Hoyng CB, Collin RW, Rivolta C, Ayuso C.
  Ophthalmology. 2014 Aug;121(8):1620-7. doi: 10.1016/j.ophtha.2014.02.008. Epub 2014 Mar 31.
  PMID: 24697911 [PubMed - in process]
  Related citations
6. Molecular genetics of FAM161A in North American patients with early-onset retinitis pigmentosa.
  Venturini G, Di Gioia SA, Harper S, Weigel-DiFranco C, Rivolta C, Berson EL.
  PLoS One. 2014 Mar 20;9(3):e92479. doi: 10.1371/journal.pone.0092479. eCollection 2014.
  PMID: 24651477 [PubMed - in process] Free PMC Article
  Related citations
7. Dominant PRPF31 mutations are hypostatic to a recessive CNOT3 polymorphism in retinitis pigmentosa: a novel phenomenon of "linked trans-acting epistasis".
  Rose AM, Shah AZ, Venturini G, Rivolta C, Rose GE, Bhattacharya SS.
  Ann Hum Genet. 2014 Jan;78(1):62-71. doi: 10.1111/ahg.12042. Epub 2013 Oct 14.
  PMID: 24116917 [PubMed - indexed for MEDLINE]
  Related citations
8. Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene.
  Nishiguchi KM, Tearle RG, Liu YP, Oh EC, Miyake N, Benaglio P, Harper S, Koskiniemi-Kuendig H, Venturini G, Sharon D, Koenekoop RK, Nakamura M, Kondo M, Ueno S, Yasuma TR, Beckmann JS, Ikegawa S, Matsumoto N, Terasaki H, Berson EL, Katsanis N, Rivolta C.
  Proc Natl Acad Sci U S A. 2013 Oct 1;110(40):16139-44. doi: 10.1073/pnas.1308243110. Epub 2013 Sep 16.
  PMID: 24043777 [PubMed - indexed for MEDLINE] Free PMC Article
  Related citations
9. Target sequencing, cell experiments, and a population study establish endothelial nitric oxide synthase (eNOS) gene as hypertension susceptibility gene.
  Salvi E, Kuznetsova T, Thijs L, Lupoli S, Stolarz-Skrzypek K, D'Avila F, Tikhonoff V, De Astis S, Barcella M, Seidlerová J, Benaglio P, Malyutina S, Frau F, Velayutham D, Benfante R, Zagato L, Title A, Braga D, Marek D, Kawecka-Jaszcz K, Casiglia E, Filipovsky J, Nikitin Y, Rivolta C, Manunta P, Beckmann JS, Barlassina C, Cusi D, Staessen JA.
  Hypertension. 2013 Nov;62(5):844-52. doi: 10.1161/HYPERTENSIONAHA.113.01428. Epub 2013 Sep 9.
  PMID: 24019403 [PubMed - indexed for MEDLINE]
  Related citations
10. Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.
  Corton M, Nishiguchi KM, Avila-Fernández A, Nikopoulos K, Riveiro-Alvarez R, Tatu SD, Ayuso C, Rivolta C.
  PLoS One. 2013 Jun 14;8(6):e65574. doi: 10.1371/journal.pone.0065574. Print 2013.
  PMID: 23940504 [PubMed - indexed for MEDLINE] Free PMC Article
  Related citations
11. PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.
  Azzedine H, Zavadakova P, Planté-Bordeneuve V, Vaz Pato M, Pinto N, Bartesaghi L, Zenker J, Poirot O, Bernard-Marissal N, Arnaud Gouttenoire E, Cartoni R, Title A, Venturini G, Médard JJ, Makowski E, Schöls L, Claeys KG, Stendel C, Roos A, Weis J, Dubourg O, Leal Loureiro J, Stevanin G, Said G, Amato A, Baraban J, LeGuern E, Senderek J, Rivolta C, Chrast R.
  Hum Mol Genet. 2013 Oct 15;22(20):4224-32. doi: 10.1093/hmg/ddt274. Epub 2013 Jun 17.
  PMID: 23777631 [PubMed - indexed for MEDLINE]
  Related citations
12. Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits.
  Randall JC, Winkler TW, Kutalik Z, Berndt SI, Jackson AU, Monda KL, Kilpeläinen TO, Esko T, Mägi R, Li S, Workalemahu T, Feitosa MF, Croteau-Chonka DC, Day FR, Fall T, Ferreira T, Gustafsson S, Locke AE, Mathieson I, Scherag A, Vedantam S, Wood AR, Liang L, Steinthorsdottir V, Thorleifsson G, Dermitzakis ET, Dimas AS, Karpe F, Min JL, Nicholson G, Clegg DJ, Person T, Krohn JP, Bauer S, Buechler C, Eisinger K; DIAGRAM Consortium, Bonnefond A, Froguel P; MAGIC Investigators, Hottenga JJ, Prokopenko I, Waite LL, Harris TB, Smith AV, Shuldiner AR, McArdle WL, Caulfield MJ, Munroe PB, Grönberg H, Chen YD, Li G, Beckmann JS, Johnson T, Thorsteinsdottir U, Teder-Laving M, Khaw KT, Wareham NJ, Zhao JH, Amin N, Oostra BA, Kraja AT, Province MA, Cupples LA, Heard-Costa NL, Kaprio J, Ripatti S, Surakka I, Collins FS, Saramies J, Tuomilehto J, Jula A, Salomaa V, Erdmann J, Hengstenberg C, Loley C, Schunkert H, Lamina C, Wichmann HE, Albrecht E, Gieger C, Hicks AA, Johansson A, Pramstaller PP, Kathiresan S, Speliotes EK, Penninx B, Hartikainen AL, Jarvelin MR, Gyllensten U, Boomsma DI, Campbell H, Wilson JF, Chanock SJ, Farrall M, Goel A, Medina-Gomez C, Rivadeneira F, Estrada K, Uitterlinden AG, Hofman A, Zillikens MC, den Heijer M, Kiemeney LA, Maschio A, Hall P, Tyrer J, Teumer A, Völzke H, Kovacs P, Tönjes A, Mangino M, Spector TD, Hayward C, Rudan I, Hall AS, Samani NJ, Attwood AP, Sambrook JG, Hung J, Palmer LJ, Lokki ML, Sinisalo J, Boucher G, Huikuri H, Lorentzon M, Ohlsson C, Eklund N, Eriksson JG, Barlassina C, Rivolta C, Nolte IM, Snieder H, Van der Klauw MM, Van Vliet-Ostaptchouk JV, Gejman PV, Shi J, Jacobs KB, Wang Z, Bakker SJ, Mateo Leach I, Navis G, van der Harst P, Martin NG, Medland SE, Montgomery GW, Yang J, Chasman DI, Ridker PM, Rose LM, Lehtimäki T, Raitakari O, Absher D, Iribarren C, Basart H, Hovingh KG, Hyppönen E, Power C, Anderson D, Beilby JP, Hui J, Jolley J, Sager H, Bornstein SR, Schwarz PE, Kristiansson K, Perola M, Lindström J, Swift AJ, Uusitupa M, Atalay M, Lakka TA, Rauramaa R, Bolton JL, Fowkes G, Fraser RM, Price JF, Fischer K, Krjutå Kov K, Metspalu A, Mihailov E, Langenberg C, Luan J, Ong KK, Chines PS, Keinanen-Kiukaanniemi SM, Saaristo TE, Edkins S, Franks PW, Hallmans G, Shungin D, Morris AD, Palmer CN, Erbel R, Moebus S, Nöthen MM, Pechlivanis S, Hveem K, Narisu N, Hamsten A, Humphries SE, Strawbridge RJ, Tremoli E, Grallert H, Thorand B, Illig T, Koenig W, Müller-Nurasyid M, Peters A, Boehm BO, Kleber ME, März W, Winkelmann BR, Kuusisto J, Laakso M, Arveiler D, Cesana G, Kuulasmaa K, Virtamo J, Yarnell JW, Kuh D, Wong A, Lind L, de Faire U, Gigante B, Magnusson PK, Pedersen NL, Dedoussis G, Dimitriou M, Kolovou G, Kanoni S, Stirrups K, Bonnycastle LL, Njølstad I, Wilsgaard T, Ganna A, Rehnberg E, Hingorani A, Kivimaki M, Kumari M, Assimes TL, Barroso I, Boehnke M, Borecki IB, Deloukas P, Fox CS, Frayling T, Groop LC, Haritunians T, Hunter D, Ingelsson E, Kaplan R, Mohlke KL, O'Connell JR, Schlessinger D, Strachan DP, Stefansson K, van Duijn CM, Abecasis GR, McCarthy MI, Hirschhorn JN, Qi L, Loos RJ, Lindgren CM, North KE, Heid IM.
  PLoS Genet. 2013 Jun;9(6):e1003500. doi: 10.1371/journal.pgen.1003500. Epub 2013 Jun 6.
  PMID: 23754948 [PubMed - indexed for MEDLINE] Free PMC Article
  Related citations
13. Molecular genetics of charcot-marie-tooth disease: from genes to genomes.
  Azzedine H, Senderek J, Rivolta C, Chrast R.
  Mol Syndromol. 2012 Nov;3(5):204-14. doi: 10.1159/000343487. Epub 2012 Oct 12.
  PMID: 23293578 [PubMed] Free PMC Article
  Related citations
14. CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance.
  Venturini G, Rose AM, Shah AZ, Bhattacharya SS, Rivolta C.
  PLoS Genet. 2012;8(11):e1003040. doi: 10.1371/journal.pgen.1003040. Epub 2012 Nov 8.
  PMID: 23144630 [PubMed - indexed for MEDLINE] Free PMC Article
  Related citations
15. FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies.
  Di Gioia SA, Letteboer SJ, Kostic C, Bandah-Rozenfeld D, Hetterschijt L, Sharon D, Arsenijevic Y, Roepman R, Rivolta C.
  Hum Mol Genet. 2012 Dec 1;21(23):5174-84. doi: 10.1093/hmg/dds368. Epub 2012 Sep 1.
  PMID: 22940612 [PubMed - indexed for MEDLINE] Free Article
  Related citations
16. Identification of an RP1 prevalent founder mutation and related phenotype in Spanish patients with early-onset autosomal recessive retinitis.
  Avila-Fernandez A, Corton M, Nishiguchi KM, Muñoz-Sanz N, Benavides-Mori B, Blanco-Kelly F, Riveiro-Alvarez R, Garcia-Sandoval B, Rivolta C, Ayuso C.
  Ophthalmology. 2012 Dec;119(12):2616-21. doi: 10.1016/j.ophtha.2012.06.033. Epub 2012 Aug 20.
  PMID: 22917891 [PubMed - indexed for MEDLINE]
  Related citations
17. Genes associated with retinitis pigmentosa and allied diseases are frequently mutated in the general population.
  Nishiguchi KM, Rivolta C.
  PLoS One. 2012;7(7):e41902. doi: 10.1371/journal.pone.0041902. Epub 2012 Jul 27.
  PMID: 22848652 [PubMed - indexed for MEDLINE] Free PMC Article
  Related citations
18. Clinicopathologic and molecular analysis of a choroidal pigmented schwannoma in the context of a PTEN hamartoma tumor syndrome.
  Venturini G, Moulin AP, Deprez M, Uffer S, Bottani A, Zografos L, Rivolta C.
  Ophthalmology. 2012 Apr;119(4):857-64. doi: 10.1016/j.ophtha.2011.09.057. Epub 2012 Jan 26.
  PMID: 22281088 [PubMed - indexed for MEDLINE]
  Related citations
19. Genomewide association study using a high-density single nucleotide polymorphism array and case-control design identifies a novel essential hypertension susceptibility locus in the promoter region of endothelial NO synthase.
  Salvi E, Kutalik Z, Glorioso N, Benaglio P, Frau F, Kuznetsova T, Arima H, Hoggart C, Tichet J, Nikitin YP, Conti C, Seidlerova J, Tikhonoff V, Stolarz-Skrzypek K, Johnson T, Devos N, Zagato L, Guarrera S, Zaninello R, Calabria A, Stancanelli B, Troffa C, Thijs L, Rizzi F, Simonova G, Lupoli S, Argiolas G, Braga D, D'Alessio MC, Ortu MF, Ricceri F, Mercurio M, Descombes P, Marconi M, Chalmers J, Harrap S, Filipovsky J, Bochud M, Iacoviello L, Ellis J, Stanton AV, Laan M, Padmanabhan S, Dominiczak AF, Samani NJ, Melander O, Jeunemaitre X, Manunta P, Shabo A, Vineis P, Cappuccio FP, Caulfield MJ, Matullo G, Rivolta C, Munroe PB, Barlassina C, Staessen JA, Beckmann JS, Cusi D.
  Hypertension. 2012 Feb;59(2):248-55. doi: 10.1161/HYPERTENSIONAHA.111.181990. Epub 2011 Dec 19.
  PMID: 22184326 [PubMed - indexed for MEDLINE] Free PMC Article
  Related citations
20. Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
  Chambers JC, Zhang W, Sehmi J, Li X, Wass MN, Van der Harst P, Holm H, Sanna S, Kavousi M, Baumeister SE, Coin LJ, Deng G, Gieger C, Heard-Costa NL, Hottenga JJ, Kühnel B, Kumar V, Lagou V, Liang L, Luan J, Vidal PM, Mateo Leach I, O'Reilly PF, Peden JF, Rahmioglu N, Soininen P, Speliotes EK, Yuan X, Thorleifsson G, Alizadeh BZ, Atwood LD, Borecki IB, Brown MJ, Charoen P, Cucca F, Das D, de Geus EJ, Dixon AL, Döring A, Ehret G, Eyjolfsson GI, Farrall M, Forouhi NG, Friedrich N, Goessling W, Gudbjartsson DF, Harris TB, Hartikainen AL, Heath S, Hirschfield GM, Hofman A, Homuth G, Hyppönen E, Janssen HL, Johnson T, Kangas AJ, Kema IP, Kühn JP, Lai S, Lathrop M, Lerch MM, Li Y, Liang TJ, Lin JP, Loos RJ, Martin NG, Moffatt MF, Montgomery GW, Munroe PB, Musunuru K, Nakamura Y, O'Donnell CJ, Olafsson I, Penninx BW, Pouta A, Prins BP, Prokopenko I, Puls R, Ruokonen A, Savolainen MJ, Schlessinger D, Schouten JN, Seedorf U, Sen-Chowdhry S, Siminovitch KA, Smit JH, Spector TD, Tan W, Teslovich TM, Tukiainen T, Uitterlinden AG, Van der Klauw MM, Vasan RS, Wallace C, Wallaschofski H, Wichmann HE, Willemsen G, Würtz P, Xu C, Yerges-Armstrong LM; Alcohol Genome-wide Association (AlcGen) Consortium; Diabetes Genetics Replication and Meta-analyses (DIAGRAM+) Study; Genetic Investigation of Anthropometric Traits (GIANT) Consortium; Global Lipids Genetics Consortium; Genetics of Liver Disease (GOLD) Consortium; International Consortium for Blood Pressure (ICBP-GWAS); Meta-analyses of Glucose and Insulin-Related Traits Consortium (MAGIC), Abecasis GR, Ahmadi KR, Boomsma DI, Caulfield M, Cookson WO, van Duijn CM, Froguel P, Matsuda K, McCarthy MI, Meisinger C, Mooser V, Pietiläinen KH, Schumann G, Snieder H, Sternberg MJ, Stolk RP, Thomas HC, Thorsteinsdottir U, Uda M, Waeber G, Wareham NJ, Waterworth DM, Watkins H, Whitfield JB, Witteman JC, Wolffenbuttel BH, Fox CS, Ala-Korpela M, Stefansson K, Vollenweider P, Völzke H, Schadt EE, Scott J, Järvelin MR, Elliott P, Kooner JS.
  Nat Genet. 2011 Oct 16;43(11):1131-8. doi: 10.1038/ng.970.
  PMID: 22001757 [PubMed - indexed for MEDLINE] Free PMC Article
  Related citations
21. Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa.
  Benaglio P, McGee TL, Capelli LP, Harper S, Berson EL, Rivolta C.
  Hum Mutat. 2011 Jun;32(6):E2246-58. doi: 10.1002/humu.21485. Epub 2011 Feb 24.
  PMID: 21618346 [PubMed - indexed for MEDLINE]
  Related citations
22. A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa.
  Tanackovic G, Ransijn A, Ayuso C, Harper S, Berson EL, Rivolta C.
  Am J Hum Genet. 2011 May 13;88(5):643-9. doi: 10.1016/j.ajhg.2011.04.008. Epub 2011 May 5.
  PMID: 21549338 [PubMed - indexed for MEDLINE] Free PMC Article
  Related citations
23. Network-guided analysis of genes with altered somatic copy number and gene expression reveals pathways commonly perturbed in metastatic melanoma.
  Valsesia A, Rimoldi D, Martinet D, Ibberson M, Benaglio P, Quadroni M, Waridel P, Gaillard M, Pidoux M, Rapin B, Rivolta C, Xenarios I, Simpson AJ, Antonarakis SE, Beckmann JS, Jongeneel CV, Iseli C, Stevenson BJ.
  PLoS One. 2011 Apr 8;6(4):e18369. doi: 10.1371/journal.pone.0018369.
  PMID: 21494657 [PubMed - indexed for MEDLINE] Free PMC Article
  Related citations
24. PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa.
  Tanackovic G, Ransijn A, Thibault P, Abou Elela S, Klinck R, Berson EL, Chabot B, Rivolta C.
  Hum Mol Genet. 2011 Jun 1;20(11):2116-30. doi: 10.1093/hmg/ddr094. Epub 2011 Mar 5.
  PMID: 21378395 [PubMed - indexed for MEDLINE] Free PMC Article
  Related citations
25. Ultra high throughput sequencing in human DNA variation detection: a comparative study on the NDUFA3-PRPF31 region.
  Benaglio P, Rivolta C.
  PLoS One. 2010 Sep 29;5(9). pii: e13071. doi: 10.1371/journal.pone.0013071.
  PMID: 20927379 [PubMed - indexed for MEDLINE] Free PMC Article
  Related citations
26. Hundreds of variants clustered in genomic loci and biological pathways affect human height.
  Lango Allen H, Estrada K, Lettre G, Berndt SI, Weedon MN, Rivadeneira F, Willer CJ, Jackson AU, Vedantam S, Raychaudhuri S, Ferreira T, Wood AR, Weyant RJ, Segrè AV, Speliotes EK, Wheeler E, Soranzo N, Park JH, Yang J, Gudbjartsson D, Heard-Costa NL, Randall JC, Qi L, Vernon Smith A, Mägi R, Pastinen T, Liang L, Heid IM, Luan J, Thorleifsson G, Winkler TW, Goddard ME, Sin Lo K, Palmer C, Workalemahu T, Aulchenko YS, Johansson A, Zillikens MC, Feitosa MF, Esko T, Johnson T, Ketkar S, Kraft P, Mangino M, Prokopenko I, Absher D, Albrecht E, Ernst F, Glazer NL, Hayward C, Hottenga JJ, Jacobs KB, Knowles JW, Kutalik Z, Monda KL, Polasek O, Preuss M, Rayner NW, Robertson NR, Steinthorsdottir V, Tyrer JP, Voight BF, Wiklund F, Xu J, Zhao JH, Nyholt DR, Pellikka N, Perola M, Perry JR, Surakka I, Tammesoo ML, Altmaier EL, Amin N, Aspelund T, Bhangale T, Boucher G, Chasman DI, Chen C, Coin L, Cooper MN, Dixon AL, Gibson Q, Grundberg E, Hao K, Juhani Junttila M, Kaplan LM, Kettunen J, König IR, Kwan T, Lawrence RW, Levinson DF, Lorentzon M, McKnight B, Morris AP, Müller M, Suh Ngwa J, Purcell S, Rafelt S, Salem RM, Salvi E, Sanna S, Shi J, Sovio U, Thompson JR, Turchin MC, Vandenput L, Verlaan DJ, Vitart V, White CC, Ziegler A, Almgren P, Balmforth AJ, Campbell H, Citterio L, De Grandi A, Dominiczak A, Duan J, Elliott P, Elosua R, Eriksson JG, Freimer NB, Geus EJ, Glorioso N, Haiqing S, Hartikainen AL, Havulinna AS, Hicks AA, Hui J, Igl W, Illig T, Jula A, Kajantie E, Kilpeläinen TO, Koiranen M, Kolcic I, Koskinen S, Kovacs P, Laitinen J, Liu J, Lokki ML, Marusic A, Maschio A, Meitinger T, Mulas A, Paré G, Parker AN, Peden JF, Petersmann A, Pichler I, Pietiläinen KH, Pouta A, Ridderstråle M, Rotter JI, Sambrook JG, Sanders AR, Schmidt CO, Sinisalo J, Smit JH, Stringham HM, Bragi Walters G, Widen E, Wild SH, Willemsen G, Zagato L, Zgaga L, Zitting P, Alavere H, Farrall M, McArdle WL, Nelis M, Peters MJ, Ripatti S, van Meurs JB, Aben KK, Ardlie KG, Beckmann JS, Beilby JP, Bergman RN, Bergmann S, Collins FS, Cusi D, den Heijer M, Eiriksdottir G, Gejman PV, Hall AS, Hamsten A, Huikuri HV, Iribarren C, Kähönen M, Kaprio J, Kathiresan S, Kiemeney L, Kocher T, Launer LJ, Lehtimäki T, Melander O, Mosley TH Jr, Musk AW, Nieminen MS, O'Donnell CJ, Ohlsson C, Oostra B, Palmer LJ, Raitakari O, Ridker PM, Rioux JD, Rissanen A, Rivolta C, Schunkert H, Shuldiner AR, Siscovick DS, Stumvoll M, Tönjes A, Tuomilehto J, van Ommen GJ, Viikari J, Heath AC, Martin NG, Montgomery GW, Province MA, Kayser M, Arnold AM, Atwood LD, Boerwinkle E, Chanock SJ, Deloukas P, Gieger C, Grönberg H, Hall P, Hattersley AT, Hengstenberg C, Hoffman W, Lathrop GM, Salomaa V, Schreiber S, Uda M, Waterworth D, Wright AF, Assimes TL, Barroso I, Hofman A, Mohlke KL, Boomsma DI, Caulfield MJ, Cupples LA, Erdmann J, Fox CS, Gudnason V, Gyllensten U, Harris TB, Hayes RB, Jarvelin MR, Mooser V, Munroe PB, Ouwehand WH, Penninx BW, Pramstaller PP, Quertermous T, Rudan I, Samani NJ, Spector TD, Völzke H, Watkins H, Wilson JF, Groop LC, Haritunians T, Hu FB, Kaplan RC, Metspalu A, North KE, Schlessinger D, Wareham NJ, Hunter DJ, O'Connell JR, Strachan DP, Wichmann HE, Borecki IB, van Duijn CM, Schadt EE, Thorsteinsdottir U, Peltonen L, Uitterlinden AG, Visscher PM, Chatterjee N, Loos RJ, Boehnke M, McCarthy MI, Ingelsson E, Lindgren CM, Abecasis GR, Stefansson K, Frayling TM, Hirschhorn JN.
  Nature. 2010 Oct 14;467(7317):832-8. doi: 10.1038/nature09410. Epub 2010 Sep 29.
  PMID: 20881960 [PubMed - indexed for MEDLINE] Free PMC Article
  Related citations
27. Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa.
  Langmann T, Di Gioia SA, Rau I, Stöhr H, Maksimovic NS, Corbo JC, Renner AB, Zrenner E, Kumaramanickavel G, Karlstetter M, Arsenijevic Y, Weber BH, Gal A, Rivolta C.
  Am J Hum Genet. 2010 Sep 10;87(3):376-81. doi: 10.1016/j.ajhg.2010.07.018. Epub 2010 Aug 12.
  PMID: 20705278 [PubMed - indexed for MEDLINE] Free PMC Article
  Related citations
28. Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosa.
  Rio Frio T, Panek S, Iseli C, Di Gioia SA, Kumar A, Gal A, Rivolta C.
  Mol Vis. 2009 Dec 8;15:2627-33.
  PMID: 20011630 [PubMed - indexed for MEDLINE] Free PMC Article
  Related citations
29. A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance.
  Rio Frio T, McGee TL, Wade NM, Iseli C, Beckmann JS, Berson EL, Rivolta C.
  Hum Mutat. 2009 Sep;30(9):1340-7. doi: 10.1002/humu.21071.
  PMID: 19618371 [PubMed - indexed for MEDLINE] Free PMC Article
  Related citations
30. Mutation screening of the glutamate cysteine ligase modifier (GCLM) gene in patients with schizophrenia.
  Butticaz C, Werge T, Beckmann JS, Cuénod M, Do KQ, Rivolta C.
  Psychiatr Genet. 2009 Aug;19(4):201-8. doi: 10.1097/YPG.0b013e32832cef21.
  PMID: 19455074 [PubMed - indexed for MEDLINE]
  Related citations
31. PRPF31 alternative splicing and expression in human retina.
  Tanackovic G, Rivolta C.
  Ophthalmic Genet. 2009 Jun;30(2):76-83. doi: 10.1080/13816810902744621.
  PMID: 19373678 [PubMed - indexed for MEDLINE]
  Related citations
32. The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways.
  Fukada T, Civic N, Furuichi T, Shimoda S, Mishima K, Higashiyama H, Idaira Y, Asada Y, Kitamura H, Yamasaki S, Hojyo S, Nakayama M, Ohara O, Koseki H, Dos Santos HG, Bonafe L, Ha-Vinh R, Zankl A, Unger S, Kraenzlin ME, Beckmann JS, Saito I, Rivolta C, Ikegawa S, Superti-Furga A, Hirano T.
  PLoS One. 2008;3(11):e3642. doi: 10.1371/journal.pone.0003642. Epub 2008 Nov 5. Erratum in: PLoS One. 2008;3(11). doi: 10.1371/annotation/a6c35a12-e8eb-43a0-9d00-5078fa6da1bb.
  PMID: 18985159 [PubMed - indexed for MEDLINE] Free PMC Article
  Related citations
33. Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations.
  Rio Frio T, Civic N, Ransijn A, Beckmann JS, Rivolta C.
  Hum Mol Genet. 2008 Oct 15;17(20):3154-65. doi: 10.1093/hmg/ddn212. Epub 2008 Jul 18.
  PMID: 18640990 [PubMed - indexed for MEDLINE] Free Article
  Related citations
34. Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay.
  Rio Frio T, Wade NM, Ransijn A, Berson EL, Beckmann JS, Rivolta C.
  J Clin Invest. 2008 Apr;118(4):1519-31. doi: 10.1172/JCI34211.
  PMID: 18317597 [PubMed - indexed for MEDLINE] Free PMC Article
  Related citations
35. Mutation screening of the peropsin gene, a retinal pigment epithelium specific rhodopsin homolog, in patients with retinitis pigmentosa and allied diseases.
  Rivolta C, Berson EL, Dryja TP.
  Mol Vis. 2006 Dec 5;12:1511-5.
  PMID: 17167409 [PubMed - indexed for MEDLINE] Free Article
  Related citations
36. Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations.
  Rivolta C, McGee TL, Rio Frio T, Jensen RV, Berson EL, Dryja TP.
  Hum Mutat. 2006 Jul;27(7):644-53.
  PMID: 16708387 [PubMed - indexed for MEDLINE]
  Related citations
37. Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.
  Seyedahmadi BJ, Rivolta C, Keene JA, Berson EL, Dryja TP.
  Exp Eye Res. 2004 Aug;79(2):167-73.
  PMID: 15325563 [PubMed - indexed for MEDLINE]
  Related citations
38. Essential Bacillus subtilis genes.
  Kobayashi K, Ehrlich SD, Albertini A, Amati G, Andersen KK, Arnaud M, Asai K, Ashikaga S, Aymerich S, Bessieres P, Boland F, Brignell SC, Bron S, Bunai K, Chapuis J, Christiansen LC, Danchin A, Débarbouille M, Dervyn E, Deuerling E, Devine K, Devine SK, Dreesen O, Errington J, Fillinger S, Foster SJ, Fujita Y, Galizzi A, Gardan R, Eschevins C, Fukushima T, Haga K, Harwood CR, Hecker M, Hosoya D, Hullo MF, Kakeshita H, Karamata D, Kasahara Y, Kawamura F, Koga K, Koski P, Kuwana R, Imamura D, Ishimaru M, Ishikawa S, Ishio I, Le Coq D, Masson A, Mauël C, Meima R, Mellado RP, Moir A, Moriya S, Nagakawa E, Nanamiya H, Nakai S, Nygaard P, Ogura M, Ohanan T, O'Reilly M, O'Rourke M, Pragai Z, Pooley HM, Rapoport G, Rawlins JP, Rivas LA, Rivolta C, Sadaie A, Sadaie Y, Sarvas M, Sato T, Saxild HH, Scanlan E, Schumann W, Seegers JF, Sekiguchi J, Sekowska A, Séror SJ, Simon M, Stragier P, Studer R, Takamatsu H, Tanaka T, Takeuchi M, Thomaides HB, Vagner V, van Dijl JM, Watabe K, Wipat A, Yamamoto H, Yamamoto M, Yamamoto Y, Yamane K, Yata K, Yoshida K, Yoshikawa H, Zuber U, Ogasawara N.
  Proc Natl Acad Sci U S A. 2003 Apr 15;100(8):4678-83. Epub 2003 Apr 7.
  PMID: 12682299 [PubMed - indexed for MEDLINE] Free PMC Article
  Related citations
39. Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis.
  Rivolta C, Ayyagari R, Sieving PA, Berson EL, Dryja TP.
  Mol Vis. 2003 Feb 18;9:49-51.
  PMID: 12592226 [PubMed - indexed for MEDLINE] Free Article
  Related citations
40. Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A.
  Rivolta C, Berson EL, Dryja TP.
  Arch Ophthalmol. 2002 Nov;120(11):1566-71.
  PMID: 12427073 [PubMed - indexed for MEDLINE]
  Related citations
41. Barrier to autointegration factor interacts with the cone-rod homeobox and represses its transactivation function.
  Wang X, Xu S, Rivolta C, Li LY, Peng GH, Swain PK, Sung CH, Swaroop A, Berson EL, Dryja TP, Chen S.
  J Biol Chem. 2002 Nov 8;277(45):43288-300. Epub 2002 Sep 4.
  PMID: 12215455 [PubMed - indexed for MEDLINE] Free Article
  Related citations
42. Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns.
  Rivolta C, Sharon D, DeAngelis MM, Dryja TP.
  Hum Mol Genet. 2002 May 15;11(10):1219-27. Review. Erratum in: Hum Mol Genet. 2003 Mar 1;12(5):583-4.
  PMID: 12015282 [PubMed - indexed for MEDLINE] Free Article
  Related citations
43. Novel frameshift mutations in CRX associated with Leber congenital amaurosis.
  Rivolta C, Peck NE, Fulton AB, Fishman GA, Berson EL, Dryja TP.
  Hum Mutat. 2001 Dec;18(6):550-1.
  PMID: 11748859 [PubMed - indexed for MEDLINE]
  Related citations
44. Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX.
  Rivolta C, Berson EL, Dryja TP.
  Hum Mutat. 2001 Dec;18(6):488-98. Review.td>
  PMID: 11748842 [PubMed - indexed for MEDLINE]
  Related citations
45. Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss.
  Rivolta C, Sweklo EA, Berson EL, Dryja TP.
  Am J Hum Genet. 2000 Jun;66(6):1975-8. Epub 2000 Apr 20.
  PMID: 10775529 [PubMed - indexed for MEDLINE] Free PMC Article
  Related citations
46. Bacillus subtilis contains two small c-type cytochromes with homologous heme domains but different types of membrane anchors.
  Bengtsson J, Rivolta C, Hederstedt L, Karamata D.
  J Biol Chem. 1999 Sep 10;274(37):26179-84.
  PMID: 10473570 [PubMed - indexed for MEDLINE] Free Article
  Related citations
47. Genetic and physical maps of the Bacillus subtilis chromosome.
  Rivolta C, Pagni M.
  Genetics. 1999 Apr;151(4):1239-44.
  PMID: 10101153 [PubMed - indexed for MEDLINE] Free PMC Article
  Related citations
48. Subunit II of Bacillus subtilis cytochrome c oxidase is a lipoprotein.
  Bengtsson J, Tjalsma H, Rivolta C, Hederstedt L.
  J Bacteriol. 1999 Jan;181(2):685-8.
  PMID: 9882689 [PubMed - indexed for MEDLINE] Free PMC Article
  Related citations
49. The product of the yvoC (gerF) gene of Bacillus subtilis is required for spore germination.
  Robinson C, Rivolta C, Karamata D, Moir A.
  Microbiology. 1998 Nov;144 ( Pt 11):3105-9.
  PMID: 9846746 [PubMed - indexed for MEDLINE] Free Article
  Related citations
50. A 35.7 kb DNA fragment from the Bacillus subtilis chromosome containing a putative 12.3 kb operon involved in hexuronate catabolism and a perfectly symmetrical hypothetical catabolite-responsive element.
  Rivolta C, Soldo B, Lazarevic V, Joris B, Mauël C, Karamata D.
  Microbiology. 1998 Apr;144 ( Pt 4):877-84.
  PMID: 9579062 [PubMed - indexed for MEDLINE] Free Article
  Related citations
51. A novel protein kinase that controls carbon catabolite repression in bacteria.
  Reizer J, Hoischen C, Titgemeyer F, Rivolta C, Rabus R, Stülke J, Karamata D, Saier MH Jr, Hillen W.
  Mol Microbiol. 1998 Mar;27(6):1157-69.
  PMID: 9570401 [PubMed - indexed for MEDLINE]
  Related citations
52. The complete genome sequence of the gram-positive bacterium Bacillus subtilis.
  Kunst F, Ogasawara N, Moszer I, Albertini AM, Alloni G, Azevedo V, Bertero MG, Bessières P, Bolotin A, Borchert S, Borriss R, Boursier L, Brans A, Braun M, Brignell SC, Bron S, Brouillet S, Bruschi CV, Caldwell B, Capuano V, Carter NM, Choi SK, Cordani JJ, Connerton IF, Cummings NJ, Daniel RA, Denziot F, Devine KM, Düsterhöft A, Ehrlich SD, Emmerson PT, Entian KD, Errington J, Fabret C, Ferrari E, Foulger D, Fritz C, Fujita M, Fujita Y, Fuma S, Galizzi A, Galleron N, Ghim SY, Glaser P, Goffeau A, Golightly EJ, Grandi G, Guiseppi G, Guy BJ, Haga K, Haiech J, Harwood CR, Hènaut A, Hilbert H, Holsappel S, Hosono S, Hullo MF, Itaya M, Jones L, Joris B, Karamata D, Kasahara Y, Klaerr-Blanchard M, Klein C, Kobayashi Y, Koetter P, Koningstein G, Krogh S, Kumano M, Kurita K, Lapidus A, Lardinois S, Lauber J, Lazarevic V, Lee SM, Levine A, Liu H, Masuda S, Mauël C, Médigue C, Medina N, Mellado RP, Mizuno M, Moestl D, Nakai S, Noback M, Noone D, O'Reilly M, Ogawa K, Ogiwara A, Oudega B, Park SH, Parro V, Pohl TM, Portelle D, Porwollik S, Prescott AM, Presecan E, Pujic P, Purnelle B, Rapoport G, Rey M, Reynolds S, Rieger M, Rivolta C, Rocha E, Roche B, Rose M, Sadaie Y, Sato T, Scanlan E, Schleich S, Schroeter R, Scoffone F, Sekiguchi J, Sekowska A, Seror SJ, Serror P, Shin BS, Soldo B, Sorokin A, Tacconi E, Takagi T, Takahashi H, Takemaru K, Takeuchi M, Tamakoshi A, Tanaka T, Terpstra P, Togoni A, Tosato V, Uchiyama S, Vandebol M, Vannier F, Vassarotti A, Viari A, Wambutt R, Wedler H, Weitzenegger T, Winters P, Wipat A, Yamamoto H, Yamane K, Yasumoto K, Yata K, Yoshida K, Yoshikawa HF, Zumstein E, Yoshikawa H, Danchin A.
  Nature. 1997 Nov 20;390(6657):249-56.
  PMID: 9384377 [PubMed - indexed for MEDLINE]
  Related citations

 

Search:
 inside this site:
   
   
 Go
 
rss/atom
Rue du Bugnon 27 - CH-1005 Lausanne  -  Tel. +41 21 6925456  -  Fax +41 21 69254 55
Swiss University