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Results: 1 to 20 of 167

1.

A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation.

Mandrile G, Di Gregorio E, Calcia A, Brussino A, Grosso E, Savin E, Giachino DF, Brusco A.

Case Rep Genet. 2014;2014:470830. doi: 10.1155/2014/470830. Epub 2014 Nov 23.

PMID:
25506442
[PubMed]
Free PMC Article
2.

Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH.

Di Gregorio E, Savin E, Biamino E, Belligni EF, Naretto VG, D'Alessandro G, Gai G, Fiocchi F, Calcia A, Mancini C, Giorgio E, Cavalieri S, Talarico F, Pappi P, Gandione M, Grosso M, Asnaghi V, Restagno G, Mandrile G, Botta G, Silengo MC, Grosso E, Ferrero GB, Brusco A.

Mol Cytogenet. 2014 Nov 19;7(1):82. doi: 10.1186/s13039-014-0082-7. eCollection 2014.

PMID:
25435912
[PubMed]
Free PMC Article
3.

Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations.

Mancini C, Nassani S, Guo Y, Chen Y, Giorgio E, Brussino A, Di Gregorio E, Cavalieri S, Lo Buono N, Funaro A, Pizio NR, Nmezi B, Kyttala A, Santorelli FM, Padiath QS, Hakonarson H, Zhang H, Brusco A.

J Neurol. 2014 Oct 31. [Epub ahead of print]

PMID:
25359263
[PubMed - as supplied by publisher]
4.

Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.

Vetro A, Dehghani MR, Kraoua L, Giorda R, Beri S, Cardarelli L, Merico M, Manolakos E, Bustamante AP, Castro A, Radi O, Camerino G, Brusco A, Sabaghian M, Sofocleous C, Forzano F, Palumbo P, Palumbo O, Calvano S, Zelante L, Grammatico P, Giglio S, Basly M, Chaabouni M, Carella M, Russo G, Bonaglia MC, Zuffardi O.

Eur J Hum Genet. 2014 Nov 5. doi: 10.1038/ejhg.2014.237. [Epub ahead of print]

PMID:
25351776
[PubMed - as supplied by publisher]
5.

Further evidence for the neuroprotective role of oleanolic acid in a model of focal brain hypoxia in rats.

Caltana L, Rutolo D, Nieto ML, Brusco A.

Neurochem Int. 2014 Dec;79:79-87. doi: 10.1016/j.neuint.2014.09.011. Epub 2014 Oct 2.

PMID:
25280833
[PubMed - in process]
6.

Novel mutation of SLC20A2 in an Italian patient presenting with migraine.

Rubino E, Giorgio E, Gallone S, Pinessi L, Orsi L, Gentile S, Duca S, Brusco A.

J Neurol. 2014 Oct;261(10):2019-21. doi: 10.1007/s00415-014-7475-8. Epub 2014 Sep 2. No abstract available.

PMID:
25178512
[PubMed - in process]
7.

ELOVL5 mutations cause spinocerebellar ataxia 38.

Di Gregorio E, Borroni B, Giorgio E, Lacerenza D, Ferrero M, Lo Buono N, Ragusa N, Mancini C, Gaussen M, Calcia A, Mitro N, Hoxha E, Mura I, Coviello DA, Moon YA, Tesson C, Vaula G, Couarch P, Orsi L, Duregon E, Papotti MG, Deleuze JF, Imbert J, Costanzi C, Padovani A, Giunti P, Maillet-Vioud M, Durr A, Brice A, Tempia F, Funaro A, Boccone L, Caruso D, Stevanin G, Brusco A.

Am J Hum Genet. 2014 Aug 7;95(2):209-17. doi: 10.1016/j.ajhg.2014.07.001. Epub 2014 Jul 24.

PMID:
25065913
[PubMed - indexed for MEDLINE]
8.

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.

Tezenas du Montcel S, Durr A, Bauer P, Figueroa KP, Ichikawa Y, Brussino A, Forlani S, Rakowicz M, Schöls L, Mariotti C, van de Warrenburg BP, Orsi L, Giunti P, Filla A, Szymanski S, Klockgether T, Berciano J, Pandolfo M, Boesch S, Melegh B, Timmann D, Mandich P, Camuzat A; Clinical Research Consortium for Spinocerebellar Ataxia (CRC-SCA); EUROSCA network, Goto J, Ashizawa T, Cazeneuve C, Tsuji S, Pulst SM, Brusco A, Riess O, Brice A, Stevanin G.

Brain. 2014 Sep;137(Pt 9):2444-55. doi: 10.1093/brain/awu174. Epub 2014 Jun 26.

PMID:
24972706
[PubMed - indexed for MEDLINE]
9.

Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion.

Novara F, Stanzial F, Rossi E, Benedicenti F, Inzana F, Di Gregorio E, Brusco A, Graakjaer J, Fagerberg C, Belligni E, Silengo M, Zuffardi O, Ciccone R.

Am J Med Genet A. 2014 Aug;164A(8):2084-90. doi: 10.1002/ajmg.a.36591. Epub 2014 May 12.

PMID:
24819041
[PubMed - in process]
10.

Changes in CNS cells in hyperammonemic portal hypertensive rats.

Tallis S, Caltana LR, Souto PA, Delfante AE, Lago NR, Brusco A, Perazzo JC.

J Neurochem. 2014 Feb;128(3):431-44. doi: 10.1111/jnc.12458. Epub 2013 Oct 24.

PMID:
24382264
[PubMed - indexed for MEDLINE]
11.

Prenatal exposure to the CB1 and CB2 cannabinoid receptor agonist WIN 55,212-2 alters migration of early-born glutamatergic neurons and GABAergic interneurons in the rat cerebral cortex.

Saez TM, Aronne MP, Caltana L, Brusco AH.

J Neurochem. 2014 May;129(4):637-48. doi: 10.1111/jnc.12636. Epub 2014 Jan 6.

PMID:
24329778
[PubMed - indexed for MEDLINE]
12.

Bilaterally cleft lip and bilateral thumb polydactyly with triphalangeal component in a patient with two de novo deletions of HSA 4q32 and 4q34 involving PDGFC, GRIA2, and FBXO8 genes.

Calcia A, Gai G, Di Gregorio E, Talarico F, Naretto VG, Migone N, Pepe E, Grosso E, Brusco A.

Am J Med Genet A. 2013 Oct;161A(10):2656-62. doi: 10.1002/ajmg.a.36146. Epub 2013 Aug 16. Review.

PMID:
24038848
[PubMed - indexed for MEDLINE]
13.

SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein.

Nanetti L, Cavalieri S, Pensato V, Erbetta A, Pareyson D, Panzeri M, Zorzi G, Antozzi C, Moroni I, Gellera C, Brusco A, Mariotti C.

Orphanet J Rare Dis. 2013 Aug 14;8:123. doi: 10.1186/1750-1172-8-123.

PMID:
23941260
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Synaptic plasticity alterations associated with memory impairment induced by deletion of CB2 cannabinoid receptors.

García-Gutiérrez MS, Ortega-Álvaro A, Busquets-García A, Pérez-Ortiz JM, Caltana L, Ricatti MJ, Brusco A, Maldonado R, Manzanares J.

Neuropharmacology. 2013 Oct;73:388-96. doi: 10.1016/j.neuropharm.2013.05.034. Epub 2013 Jun 21.

PMID:
23796670
[PubMed - indexed for MEDLINE]
15.

Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways.

Mancini C, Roncaglia P, Brussino A, Stevanin G, Lo Buono N, Krmac H, Maltecca F, Gazzano E, Bartoletti Stella A, Calvaruso MA, Iommarini L, Cagnoli C, Forlani S, Le Ber I, Durr A, Brice A, Ghigo D, Casari G, Porcelli AM, Funaro A, Gasparre G, Gustincich S, Brusco A.

BMC Med Genomics. 2013 Jun 18;6:22. doi: 10.1186/1755-8794-6-22.

PMID:
23777634
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia.

Di Gregorio E, Bianchi FT, Schiavi A, Chiotto AM, Rolando M, Verdun di Cantogno L, Grosso E, Cavalieri S, Calcia A, Lacerenza D, Zuffardi O, Retta SF, Stevanin G, Marelli C, Durr A, Forlani S, Chelly J, Montarolo F, Tempia F, Beggs HE, Reed R, Squadrone S, Abete MC, Brussino A, Ventura N, Di Cunto F, Brusco A.

J Med Genet. 2013 Aug;50(8):543-51. doi: 10.1136/jmedgenet-2013-101542. Epub 2013 Jun 7.

PMID:
23749989
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Progressive extreme heterotopic calcification.

Silengo M, Defilippi C, Belligni E, Biamino E, Flex E, Brusco A, Ferrero GB, Tartaglia M, Hennekam RC.

Am J Med Genet A. 2013 Jul;161A(7):1706-13. doi: 10.1002/ajmg.a.35944. Epub 2013 May 17.

PMID:
23686761
[PubMed - indexed for MEDLINE]
18.

Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression.

Giorgio E, Rolyan H, Kropp L, Chakka AB, Yatsenko S, Di Gregorio E, Lacerenza D, Vaula G, Talarico F, Mandich P, Toro C, Pierre EE, Labauge P, Capellari S, Cortelli P, Vairo FP, Miguel D, Stubbolo D, Marques LC, Gahl W, Boespflug-Tanguy O, Melberg A, Hassin-Baer S, Cohen OS, Pjontek R, Grau A, Klopstock T, Fogel B, Meijer I, Rouleau G, Bouchard JP, Ganapathiraju M, Vanderver A, Dahl N, Hobson G, Brusco A, Brussino A, Padiath QS.

Hum Mutat. 2013 Aug;34(8):1160-71. doi: 10.1002/humu.22348. Epub 2013 May 28. Erratum in: Hum Mutat. 2014 Jan;35(1):149.

PMID:
23649844
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Different electroclinical picture of generalized epilepsy in two families with 15q13.3 microdeletion.

Coppola A, Bagnasco I, Traverso M, Brusco A, Di Gregorio E, Del Gaudio L, Santulli L, Caccavale C, Vigliano P, Minetti C, Striano S, Zara F, Striano P.

Epilepsia. 2013 May;54(5):e69-73. doi: 10.1111/epi.12130. Epub 2013 Feb 28.

PMID:
23448223
[PubMed - indexed for MEDLINE]
20.

Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO).

Cavalieri S, Pozzi E, Gatti RA, Brusco A.

Eur J Hum Genet. 2013 Jul;21(7):774-8. doi: 10.1038/ejhg.2012.266. Epub 2012 Dec 5.

PMID:
23211698
[PubMed - indexed for MEDLINE]
Free PMC Article
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