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Page 1
Identification of human D lactate dehydrogenase deficiency.
Monroe GR, van Eerde AM, Tessadori F, Duran KJ, Savelberg SMC, van Alfen JC, Terhal PA, van der Crabben SN, Lichtenbelt KD, Fuchs SA, Gerrits J, van Roosmalen MJ, van Gassen KL, van Aalderen M, Koot BG, Oostendorp M, Duran M, Visser G, de Koning TJ, Calì F, Bosco P, Geleijns K, de Sain-van der Velden MGM, Knoers NV, Bakkers J, Verhoeven-Duif NM, van Haaften G, Jans JJ. Monroe GR, et al. Among authors: bosco p. Nat Commun. 2019 Apr 1;10(1):1477. doi: 10.1038/s41467-019-09458-6. Nat Commun. 2019. PMID: 30931947 Free PMC article.
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.
Helsmoortel C, Vulto-van Silfhout AT, Coe BP, Vandeweyer G, Rooms L, van den Ende J, Schuurs-Hoeijmakers JH, Marcelis CL, Willemsen MH, Vissers LE, Yntema HG, Bakshi M, Wilson M, Witherspoon KT, Malmgren H, Nordgren A, Annerén G, Fichera M, Bosco P, Romano C, de Vries BB, Kleefstra T, Kooy RF, Eichler EE, Van der Aa N. Helsmoortel C, et al. Among authors: bosco p. Nat Genet. 2014 Apr;46(4):380-4. doi: 10.1038/ng.2899. Epub 2014 Feb 16. Nat Genet. 2014. PMID: 24531329 Free PMC article.
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.
Sims R, van der Lee SJ, Naj AC, Bellenguez C, Badarinarayan N, Jakobsdottir J, Kunkle BW, Boland A, Raybould R, Bis JC, Martin ER, Grenier-Boley B, Heilmann-Heimbach S, Chouraki V, Kuzma AB, Sleegers K, Vronskaya M, Ruiz A, Graham RR, Olaso R, Hoffmann P, Grove ML, Vardarajan BN, Hiltunen M, Nöthen MM, White CC, Hamilton-Nelson KL, Epelbaum J, Maier W, Choi SH, Beecham GW, Dulary C, Herms S, Smith AV, Funk CC, Derbois C, Forstner AJ, Ahmad S, Li H, Bacq D, Harold D, Satizabal CL, Valladares O, Squassina A, Thomas R, Brody JA, Qu L, Sánchez-Juan P, Morgan T, Wolters FJ, Zhao Y, Garcia FS, Denning N, Fornage M, Malamon J, Naranjo MCD, Majounie E, Mosley TH, Dombroski B, Wallon D, Lupton MK, Dupuis J, Whitehead P, Fratiglioni L, Medway C, Jian X, Mukherjee S, Keller L, Brown K, Lin H, Cantwell LB, Panza F, McGuinness B, Moreno-Grau S, Burgess JD, Solfrizzi V, Proitsi P, Adams HH, Allen M, Seripa D, Pastor P, Cupples LA, Price ND, Hannequin D, Frank-García A, Levy D, Chakrabarty P, Caffarra P, Giegling I, Beiser AS, Giedraitis V, Hampel H, Garcia ME, Wang X, Lannfelt L, Mecocci P, Eiriksdottir G, Crane PK, Pasquier F, Boccardi V, Henández I, Barber RC, Scherer M, Tarraga L, Adams PM, … See abstract for full author list ➔ Sims R, et al. Among authors: bosco p. Nat Genet. 2017 Sep;49(9):1373-1384. doi: 10.1038/ng.3916. Epub 2017 Jul 17. Nat Genet. 2017. PMID: 28714976 Free PMC article.
A high percentage of skin melanoma cells expresses SPANX proteins.
Salemi M, Calogero AE, Vicari E, Migliore E, Zaccarello G, Cosentino A, Amore M, Tricoli D, Castiglione R, Bosco P, Rappazzo G. Salemi M, et al. Among authors: bosco p. Am J Dermatopathol. 2009 Apr;31(2):182-6. doi: 10.1097/DAD.0b013e3181978d6f. Am J Dermatopathol. 2009. PMID: 19318807
Expression of SpanX mRNA in testicular germ cell tumors.
Salemi M, Calogero AE, Bosco P, Castiglione R, La Vignera S, Borgione E, Rappazzo G, Vicari E. Salemi M, et al. Among authors: bosco p. Hum Cell. 2006 Aug;19(3):87-90. doi: 10.1111/j.1749-0774.2006.00014.x. Hum Cell. 2006. PMID: 17204091
KIF21A mRNA expression in patients with Down syndrome.
Salemi M, Barone C, Romano C, Ridolfo F, Scavuzzo C, Cantarella RA, Salluzzo MG, Calogero AE, Romano C, Bosco P. Salemi M, et al. Among authors: bosco p. Neurol Sci. 2013 Apr;34(4):569-71. doi: 10.1007/s10072-012-1183-x. Epub 2012 Sep 12. Neurol Sci. 2013. PMID: 22968744
LDOC1 Gene Expression in Men With Klinefelter Syndrome.
Salemi M, Condorelli RA, Longo G, Bullara V, Romano C, Campagna C, Bosco P, La Vignera S, Calogero AE. Salemi M, et al. Among authors: bosco p. J Clin Lab Anal. 2016 Sep;30(5):408-10. doi: 10.1002/jcla.21870. Epub 2016 Apr 13. J Clin Lab Anal. 2016. PMID: 27076087 Free PMC article.
205 results