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Page 1
A new submicroscopic deletion that refines the 9p region for sex reversal.
Calvari V, Bertini V, De Grandi A, Peverali G, Zuffardi O, Ferguson-Smith M, Knudtzon J, Camerino G, Borsani G, Guioli S. Calvari V, et al. Among authors: de grandi a. Genomics. 2000 May 1;65(3):203-12. doi: 10.1006/geno.2000.6160. Genomics. 2000. PMID: 10857744
SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein-associated amino acid transporter family.
Bassi MT, Sperandeo MP, Incerti B, Bulfone A, Pepe A, Surace EM, Gattuso C, De Grandi A, Buoninconti A, Riboni M, Manzoni M, Andria G, Ballabio A, Borsani G, Sebastio G. Bassi MT, et al. Among authors: de grandi a. Genomics. 1999 Dec 1;62(2):297-303. doi: 10.1006/geno.1999.5978. Genomics. 1999. PMID: 10610726
EYA4, a novel vertebrate gene related to Drosophila eyes absent.
Borsani G, DeGrandi A, Ballabio A, Bulfone A, Bernard L, Banfi S, Gattuso C, Mariani M, Dixon M, Donnai D, Metcalfe K, Winter R, Robertson M, Axton R, Brown A, van Heyningen V, Hanson I. Borsani G, et al. Hum Mol Genet. 1999 Jan;8(1):11-23. doi: 10.1093/hmg/8.1.11. Hum Mol Genet. 1999. PMID: 9887327
Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT.
Feliubadaló L, Font M, Purroy J, Rousaud F, Estivill X, Nunes V, Golomb E, Centola M, Aksentijevich I, Kreiss Y, Goldman B, Pras M, Kastner DL, Pras E, Gasparini P, Bisceglia L, Beccia E, Gallucci M, de Sanctis L, Ponzone A, Rizzoni GF, Zelante L, Bassi MT, George AL Jr, Manzoni M, De Grandi A, Riboni M, Endsley JK, Ballabio A, Borsani G, Reig N, Fernández E, Estévez R, Pineda M, Torrents D, Camps M, Lloberas J, Zorzano A, Palacín M; International Cystinuria Consortium. Feliubadaló L, et al. Among authors: de grandi a, de sanctis l. Nat Genet. 1999 Sep;23(1):52-7. doi: 10.1038/12652. Nat Genet. 1999. PMID: 10471498
Importance of different types of prior knowledge in selecting genome-wide findings for follow-up.
Minelli C, De Grandi A, Weichenberger CX, Gögele M, Modenese M, Attia J, Barrett JH, Boehnke M, Borsani G, Casari G, Fox CS, Freina T, Hicks AA, Marroni F, Parmigiani G, Pastore A, Pattaro C, Pfeufer A, Ruggeri F, Schwienbacher C, Taliun D, Pramstaller PP, Domingues FS, Thompson JR. Minelli C, et al. Among authors: de grandi a. Genet Epidemiol. 2013 Feb;37(2):205-13. doi: 10.1002/gepi.21705. Genet Epidemiol. 2013. PMID: 23307621 Free PMC article.
SNP prioritization using a Bayesian probability of association.
Thompson JR, Gögele M, Weichenberger CX, Modenese M, Attia J, Barrett JH, Boehnke M, De Grandi A, Domingues FS, Hicks AA, Marroni F, Pattaro C, Ruggeri F, Borsani G, Casari G, Parmigiani G, Pastore A, Pfeufer A, Schwienbacher C, Taliun D; CKDGen Consortium; Fox CS, Pramstaller PP, Minelli C. Thompson JR, et al. Among authors: de grandi a. Genet Epidemiol. 2013 Feb;37(2):214-21. doi: 10.1002/gepi.21704. Epub 2012 Dec 26. Genet Epidemiol. 2013. PMID: 23280596 Free PMC article.
A catalog of genetic loci associated with kidney function from analyses of a million individuals.
Wuttke M, Li Y, Li M, Sieber KB, Feitosa MF, Gorski M, Tin A, Wang L, Chu AY, Hoppmann A, Kirsten H, Giri A, Chai JF, Sveinbjornsson G, Tayo BO, Nutile T, Fuchsberger C, Marten J, Cocca M, Ghasemi S, Xu Y, Horn K, Noce D, van der Most PJ, Sedaghat S, Yu Z, Akiyama M, Afaq S, Ahluwalia TS, Almgren P, Amin N, Ärnlöv J, Bakker SJL, Bansal N, Baptista D, Bergmann S, Biggs ML, Biino G, Boehnke M, Boerwinkle E, Boissel M, Bottinger EP, Boutin TS, Brenner H, Brumat M, Burkhardt R, Butterworth AS, Campana E, Campbell A, Campbell H, Canouil M, Carroll RJ, Catamo E, Chambers JC, Chee ML, Chee ML, Chen X, Cheng CY, Cheng Y, Christensen K, Cifkova R, Ciullo M, Concas MP, Cook JP, Coresh J, Corre T, Sala CF, Cusi D, Danesh J, Daw EW, de Borst MH, De Grandi A, de Mutsert R, de Vries APJ, Degenhardt F, Delgado G, Demirkan A, Di Angelantonio E, Dittrich K, Divers J, Dorajoo R, Eckardt KU, Ehret G, Elliott P, Endlich K, Evans MK, Felix JF, Foo VHX, Franco OH, Franke A, Freedman BI, Freitag-Wolf S, Friedlander Y, Froguel P, Gansevoort RT, Gao H, Gasparini P, Gaziano JM, Giedraitis V, Gieger C, Girotto G, Giulianini F, Gögele M, Gordon SD, Gudbjartsson DF, Gudnason V, Hal… See abstract for full author list ➔ Wuttke M, et al. Among authors: de borst mh, de grandi a, de mutsert r, de vries apj. Nat Genet. 2019 Jun;51(6):957-972. doi: 10.1038/s41588-019-0407-x. Epub 2019 May 31. Nat Genet. 2019. PMID: 31152163 Free PMC article.
50 results