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Results: 1 to 20 of 142

1.

Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID.

van Bon BW, Coe BP, Bernier R, Green C, Gerdts J, Witherspoon K, Kleefstra T, Willemsen MH, Kumar R, Bosco P, Fichera M, Li D, Amaral D, Cristofoli F, Peeters H, Haan E, Romano C, Mefford HC, Scheffer I, Gecz J, de Vries BB, Eichler EE.

Mol Psychiatry. 2015 Feb 24. doi: 10.1038/mp.2015.5. [Epub ahead of print]

PMID:
25707398
[PubMed - as supplied by publisher]
2.

Association study of COX-2 (PTGS2) -765 G/C promoter polymorphism by pyrosequencing in Sicilian patients with Alzheimer's disease.

Michele S, Salluzzo MG, Calogero AE, Raffaele F, Bosco P.

Arch Med Sci. 2014 Dec 22;10(6):1235-8. doi: 10.5114/aoms.2014.47832.

PMID:
25624863
[PubMed]
Free PMC Article
3.

Expression of Phosphodiesterase 4B cAMP-Specific Gene in Subjects With Cryptorchidism and Down's Syndrome.

Salemi M, Condorelli RA, La Vignera S, Castiglione R, Salluzzo MG, Bonaccorso CM, Vinci M, Bosco P, Romano C, Campagna C, Romano C, Calogero AE.

J Clin Lab Anal. 2014 Dec 26. doi: 10.1002/jcla.21835. [Epub ahead of print]

PMID:
25546171
[PubMed - as supplied by publisher]
4.

NF-kB1 gene expression in Down syndrome patients.

Salemi M, Barone C, Romano C, Scillato F, Ragalmuto A, Caniglia S, Salluzzo MG, Sciuto G, Ridolfo F, Romano C, Bosco P.

Neurol Sci. 2014 Oct 16. [Epub ahead of print] No abstract available.

PMID:
25318693
[PubMed - as supplied by publisher]
5.

Predictive Models Based on Support Vector Machines: Whole-Brain versus Regional Analysis of Structural MRI in the Alzheimer's Disease.

Retico A, Bosco P, Cerello P, Fiorina E, Chincarini A, Fantacci ME.

J Neuroimaging. 2014 Oct 7. doi: 10.1111/jon.12163. [Epub ahead of print]

PMID:
25291354
[PubMed - as supplied by publisher]
6.

The EADC-ADNI Harmonized Protocol for manual hippocampal segmentation on magnetic resonance: Evidence of validity.

Frisoni GB, Jack CR, Bocchetta M, Bauer C, Frederiksen KS, Liu Y, Preboske G, Swihart T, Blair M, Cavedo E, Grothe MJ, Lanfredi M, Martinez O, Nishikawa M, Portegies M, Stoub T, Ward C, Apostolova LG, Ganzola R, Wolf D, Barkhof F, Bartzokis G, DeCarli C, Csernansky JG, deToledo-Morrell L, Geerlings MI, Kaye J, Killiany RJ, Lehéricy S, Matsuda H, O'Brien J, Silbert LC, Scheltens P, Soininen H, Teipel S, Waldemar G, Fellgiebel A, Barnes J, Firbank M, Gerritsen L, Henneman W, Malykhin N, Pruessner JC, Wang L, Watson C, Wolf H, deLeon M, Pantel J, Ferrari C, Bosco P, Pasqualetti P, Duchesne S, Duvernoy H, Boccardi M; EADC -European Alzheimer's Disease Consortium and the ADNI - Alzheimer's Disease Neuroimaging Initiative.

Alzheimers Dement. 2014 Sep 27. pii: S1552-5260(14)02468-6. doi: 10.1016/j.jalz.2014.05.1756. [Epub ahead of print]

PMID:
25267715
[PubMed - as supplied by publisher]
7.

Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability.

Gandin I, Faletra F, Faletra F, Carella M, Pecile V, Ferrero GB, Biamino E, Palumbo P, Palumbo O, Bosco P, Romano C, Belcaro C, Vozzi D, d'Adamo AP.

Genet Med. 2014 Sep 18. doi: 10.1038/gim.2014.118. [Epub ahead of print]

PMID:
25232855
[PubMed - as supplied by publisher]
8.

Refining analyses of copy number variation identifies specific genes associated with developmental delay.

Coe BP, Witherspoon K, Rosenfeld JA, van Bon BW, Vulto-van Silfhout AT, Bosco P, Friend KL, Baker C, Buono S, Vissers LE, Schuurs-Hoeijmakers JH, Hoischen A, Pfundt R, Krumm N, Carvill GL, Li D, Amaral D, Brown N, Lockhart PJ, Scheffer IE, Alberti A, Shaw M, Pettinato R, Tervo R, de Leeuw N, Reijnders MR, Torchia BS, Peeters H, O'Roak BJ, Fichera M, Hehir-Kwa JY, Shendure J, Mefford HC, Haan E, Gécz J, de Vries BB, Romano C, Eichler EE.

Nat Genet. 2014 Oct;46(10):1063-71. doi: 10.1038/ng.3092. Epub 2014 Sep 14.

PMID:
25217958
[PubMed - indexed for MEDLINE]
9.

Disruptive CHD8 mutations define a subtype of autism early in development.

Bernier R, Golzio C, Xiong B, Stessman HA, Coe BP, Penn O, Witherspoon K, Gerdts J, Baker C, Vulto-van Silfhout AT, Schuurs-Hoeijmakers JH, Fichera M, Bosco P, Buono S, Alberti A, Failla P, Peeters H, Steyaert J, Vissers LE, Francescatto L, Mefford HC, Rosenfeld JA, Bakken T, O'Roak BJ, Pawlus M, Moon R, Shendure J, Amaral DG, Lein E, Rankin J, Romano C, de Vries BB, Katsanis N, Eichler EE.

Cell. 2014 Jul 17;158(2):263-76. doi: 10.1016/j.cell.2014.06.017. Epub 2014 Jul 3.

PMID:
24998929
[PubMed - indexed for MEDLINE]
10.

The MTRR 66A>G polymorphism and maternal risk of birth of a child with Down syndrome in Caucasian women: a case-control study and a meta-analysis.

Coppedè F, Bosco P, Lorenzoni V, Denaro M, Anello G, Antonucci I, Barone C, Stuppia L, Romano C, Migliore L.

Mol Biol Rep. 2014 Sep;41(9):5571-83. doi: 10.1007/s11033-014-3462-5.

PMID:
24965145
[PubMed - in process]
11.

Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease.

Escott-Price V, Bellenguez C, Wang LS, Choi SH, Harold D, Jones L, Holmans P, Gerrish A, Vedernikov A, Richards A, DeStefano AL, Lambert JC, Ibrahim-Verbaas CA, Naj AC, Sims R, Jun G, Bis JC, Beecham GW, Grenier-Boley B, Russo G, Thornton-Wells TA, Denning N, Smith AV, Chouraki V, Thomas C, Ikram MA, Zelenika D, Vardarajan BN, Kamatani Y, Lin CF, Schmidt H, Kunkle B, Dunstan ML, Vronskaya M; United Kingdom Brain Expression Consortium, Johnson AD, Ruiz A, Bihoreau MT, Reitz C, Pasquier F, Hollingworth P, Hanon O, Fitzpatrick AL, Buxbaum JD, Campion D, Crane PK, Baldwin C, Becker T, Gudnason V, Cruchaga C, Craig D, Amin N, Berr C, Lopez OL, De Jager PL, Deramecourt V, Johnston JA, Evans D, Lovestone S, Letenneur L, Hernández I, Rubinsztein DC, Eiriksdottir G, Sleegers K, Goate AM, Fiévet N, Huentelman MJ, Gill M, Brown K, Kamboh MI, Keller L, Barberger-Gateau P, McGuinness B, Larson EB, Myers AJ, Dufouil C, Todd S, Wallon D, Love S, Rogaeva E, Gallacher J, George-Hyslop PS, Clarimon J, Lleo A, Bayer A, Tsuang DW, Yu L, Tsolaki M, Bossù P, Spalletta G, Proitsi P, Collinge J, Sorbi S, Garcia FS, Fox NC, Hardy J, Naranjo MC, Bosco P, Clarke R, Brayne C, Galimberti D, Scarpini E, Bonuccelli U, Mancuso M, Siciliano G, Moebus S, Mecocci P, Zompo MD, Maier W, Hampel H, Pilotto A, Frank-García A, Panza F, Solfrizzi V, Caffarra P, Nacmias B, Perry W, Mayhaus M, Lannfelt L, Hakonarson H, Pichler S, Carrasquillo MM, Ingelsson M, Beekly D, Alvarez V, Zou F, Valladares O, Younkin SG, Coto E, Hamilton-Nelson KL, Gu W, Razquin C, Pastor P, Mateo I, Owen MJ, Faber KM, Jonsson PV, Combarros O, O'Donovan MC, Cantwell LB, Soininen H, Blacker D, Mead S, Mosley TH Jr, Bennett DA, Harris TB, Fratiglioni L, Holmes C, de Bruijn RF, Passmore P, Montine TJ, Bettens K, Rotter JI, Brice A, Morgan K, Foroud TM, Kukull WA, Hannequin D, Powell JF, Nalls MA, Ritchie K, Lunetta KL, Kauwe JS, Boerwinkle E, Riemenschneider M, Boada M, Hiltunen M, Martin ER, Schmidt R, Rujescu D, Dartigues JF, Mayeux R, Tzourio C, Hofman A, Nöthen MM, Graff C, Psaty BM, Haines JL, Lathrop M, Pericak-Vance MA, Launer LJ, Van Broeckhoven C, Farrer LA, van Duijn CM, Ramirez A, Seshadri S, Schellenberg GD, Amouyel P, Williams J; Cardiovascular Health Study (CHS).

PLoS One. 2014 Jun 12;9(6):e94661. doi: 10.1371/journal.pone.0094661. eCollection 2014.

PMID:
24922517
[PubMed - in process]
Free PMC Article
12.

Head-to head comparison of mGlu1 and mGlu5 receptor activation in chronic treatment of absence epilepsy in WAG/Rij rats.

D'Amore V, Santolini I, Celli R, Lionetto L, De Fusco A, Simmaco M, van Rijn CM, Vieira E, Stauffer SR, Conn PJ, Bosco P, Nicoletti F, van Luijtelaar G, Ngomba RT.

Neuropharmacology. 2014 Oct;85:91-103. doi: 10.1016/j.neuropharm.2014.05.005. Epub 2014 May 20.

PMID:
24859611
[PubMed - in process]
13.

Cerebellar degeneration-related autoantigen 1 (CDR1) gene expression in Alzheimer's disease.

Bosco P, Spada R, Caniglia S, Salluzzo MG, Salemi M.

Neurol Sci. 2014 Oct;35(10):1613-4. doi: 10.1007/s10072-014-1805-6. Epub 2014 Apr 29. No abstract available.

PMID:
24777548
[PubMed - in process]
14.

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.

Nat Genet. 2014 Apr;46(4):380-4. doi: 10.1038/ng.2899. Epub 2014 Feb 16.

PMID:
24531329
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

CASP3 protein expression by flow cytometry in Down's syndrome subjects.

Salemi M, Condorelli RA, Romano C, Concetta B, Romano C, Salluzzo MG, Bosco P, Calogero AE.

Hum Cell. 2014 Jan;27(1):43-5. doi: 10.1007/s13577-013-0071-x. Epub 2013 Dec 13.

PMID:
24338704
[PubMed - indexed for MEDLINE]
16.

"Postural first" principle when balance is challenged in elderly people.

Lion A, Spada RS, Bosser G, Gauchard GC, Anello G, Bosco P, Calabrese S, Iero A, Stella G, Elia M, Perrin PP.

Int J Neurosci. 2014 Aug;124(8):558-66. doi: 10.3109/00207454.2013.864288. Epub 2013 Dec 12.

PMID:
24205810
[PubMed - indexed for MEDLINE]
17.

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.

Lambert JC, Ibrahim-Verbaas CA, Harold D, Naj AC, Sims R, Bellenguez C, DeStafano AL, Bis JC, Beecham GW, Grenier-Boley B, Russo G, Thorton-Wells TA, Jones N, Smith AV, Chouraki V, Thomas C, Ikram MA, Zelenika D, Vardarajan BN, Kamatani Y, Lin CF, Gerrish A, Schmidt H, Kunkle B, Dunstan ML, Ruiz A, Bihoreau MT, Choi SH, Reitz C, Pasquier F, Cruchaga C, Craig D, Amin N, Berr C, Lopez OL, De Jager PL, Deramecourt V, Johnston JA, Evans D, Lovestone S, Letenneur L, Morón FJ, Rubinsztein DC, Eiriksdottir G, Sleegers K, Goate AM, Fiévet N, Huentelman MW, Gill M, Brown K, Kamboh MI, Keller L, Barberger-Gateau P, McGuiness B, Larson EB, Green R, Myers AJ, Dufouil C, Todd S, Wallon D, Love S, Rogaeva E, Gallacher J, St George-Hyslop P, Clarimon J, Lleo A, Bayer A, Tsuang DW, Yu L, Tsolaki M, Bossù P, Spalletta G, Proitsi P, Collinge J, Sorbi S, Sanchez-Garcia F, Fox NC, Hardy J, Deniz Naranjo MC, Bosco P, Clarke R, Brayne C, Galimberti D, Mancuso M, Matthews F; European Alzheimer's Disease Initiative (EADI); Genetic and Environmental Risk in Alzheimer's Disease; Alzheimer's Disease Genetic Consortium; Cohorts for Heart and Aging Research in Genomic Epidemiology, Moebus S, Mecocci P, Del Zompo M, Maier W, Hampel H, Pilotto A, Bullido M, Panza F, Caffarra P, Nacmias B, Gilbert JR, Mayhaus M, Lannefelt L, Hakonarson H, Pichler S, Carrasquillo MM, Ingelsson M, Beekly D, Alvarez V, Zou F, Valladares O, Younkin SG, Coto E, Hamilton-Nelson KL, Gu W, Razquin C, Pastor P, Mateo I, Owen MJ, Faber KM, Jonsson PV, Combarros O, O'Donovan MC, Cantwell LB, Soininen H, Blacker D, Mead S, Mosley TH Jr, Bennett DA, Harris TB, Fratiglioni L, Holmes C, de Bruijn RF, Passmore P, Montine TJ, Bettens K, Rotter JI, Brice A, Morgan K, Foroud TM, Kukull WA, Hannequin D, Powell JF, Nalls MA, Ritchie K, Lunetta KL, Kauwe JS, Boerwinkle E, Riemenschneider M, Boada M, Hiltuenen M, Martin ER, Schmidt R, Rujescu D, Wang LS, Dartigues JF, Mayeux R, Tzourio C, Hofman A, Nöthen MM, Graff C, Psaty BM, Jones L, Haines JL, Holmans PA, Lathrop M, Pericak-Vance MA, Launer LJ, Farrer LA, van Duijn CM, Van Broeckhoven C, Moskvina V, Seshadri S, Williams J, Schellenberg GD, Amouyel P.

Nat Genet. 2013 Dec;45(12):1452-8. doi: 10.1038/ng.2802. Epub 2013 Oct 27.

PMID:
24162737
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

The MTR 2756A>G polymorphism and maternal risk of birth of a child with Down syndrome: a case-control study and a meta-analysis.

Coppedè F, Bosco P, Lorenzoni V, Migheli F, Barone C, Antonucci I, Stuppia L, Romano C, Migliore L.

Mol Biol Rep. 2013 Dec;40(12):6913-25. doi: 10.1007/s11033-013-2810-1. Epub 2013 Oct 23.

PMID:
24150725
[PubMed - indexed for MEDLINE]
19.

Brain investigation and brain conceptualization.

Redolfi A, Bosco P, Manset D, Frisoni GB; neuGRID consortium.

Funct Neurol. 2013 Jul-Sep;28(3):175-90. doi: 10.11138/FNeur/2013.28.3.175. Review.

PMID:
24139654
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Role of the Transforming-Growth-Factor-β1 Gene in Late-Onset Alzheimer's Disease: Implications for the Treatment.

Bosco P, Ferri R, Salluzzo MG, Castellano S, Signorelli M, Nicoletti F, Nuovo SD, Drago F, Caraci F.

Curr Genomics. 2013 Apr;14(2):147-56. doi: 10.2174/1389202911314020007.

PMID:
24082824
[PubMed]
Free PMC Article
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