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Items: 29

1.

Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review.

Toldo I, Bonardi CM, Bettella E, Polli R, Talenti G, Burlina A, Sartori S, Murgia A.

Eur J Paediatr Neurol. 2018 Nov;22(6):1042-1053. doi: 10.1016/j.ejpn.2018.06.010. Epub 2018 Jul 3. Review.

PMID:
30005813
2.

A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members.

Cesca F, Bettella E, Polli R, Cama E, Scimemi P, Santarelli R, Murgia A.

Int J Pediatr Otorhinolaryngol. 2018 Jan;104:88-93. doi: 10.1016/j.ijporl.2017.10.042. Epub 2017 Oct 31.

PMID:
29287889
3.

Impact of neonatal anoxia on adult rat hippocampal volume, neurogenesis and behavior.

Takada SH, Motta-Teixeira LC, Machado-Nils AV, Lee VY, Sampaio CA, Polli RS, Malheiros JM, Takase LF, Kihara AH, Covolan L, Xavier GF, Nogueira MI.

Behav Brain Res. 2016 Jan 1;296:331-338. doi: 10.1016/j.bbr.2015.08.039. Epub 2015 Sep 28.

PMID:
26416672
4.

Distribution of AGG interruption patterns within nine world populations.

Yrigollen CM, Sweha S, Durbin-Johnson B, Zhou L, Berry-Kravis E, Fernandez-Carvajal I, Faradz SM, Amiri K, Shaheen H, Polli R, Murillo-Bonilla L, Silva Arevalo Gde J, Cogram P, Murgia A, Tassone F.

Intractable Rare Dis Res. 2014 Nov;3(4):153-61. doi: 10.5582/irdr.2014.01028.

5.

Identification of four novel PCDH19 Mutations and prediction of their functional impact.

Leonardi E, Sartori S, Vecchi M, Bettella E, Polli R, Palma LD, Boniver C, Murgia A.

Ann Hum Genet. 2014 Nov;78(6):389-98. doi: 10.1111/ahg.12082. Epub 2014 Sep 17.

6.

AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission.

Yrigollen CM, Martorell L, Durbin-Johnson B, Naudo M, Genoves J, Murgia A, Polli R, Zhou L, Barbouth D, Rupchock A, Finucane B, Latham GJ, Hadd A, Berry-Kravis E, Tassone F.

J Neurodev Disord. 2014;6(1):24. doi: 10.1186/1866-1955-6-24. Epub 2014 Jul 30.

7.

Changes in Hippocampal Volume are Correlated with Cell Loss but Not with Seizure Frequency in Two Chronic Models of Temporal Lobe Epilepsy.

Polli RS, Malheiros JM, Dos Santos R, Hamani C, Longo BM, Tannús A, Mello LE, Covolan L.

Front Neurol. 2014 Jul 1;5:111. doi: 10.3389/fneur.2014.00111. eCollection 2014.

8.

Genetics and mathematics: FMR1 premutation female carriers.

Semenza C, Bonollo S, Polli R, Busana C, Pignatti R, Iuculano T, Maria Laverda A, Priftis K, Murgia A.

Neuropsychologia. 2012 Dec;50(14):3757-63. doi: 10.1016/j.neuropsychologia.2012.10.021. Epub 2012 Nov 1.

PMID:
23123760
9.

Tumor growth analysis by magnetic resonance imaging of the C6 glioblastoma model with prospects for the assessment of magnetohyperthermia therapy.

da Silva AC, Cabral FR, Mamani JB, Malheiros JM, Polli RS, Tannus A, Vidoto E, Martins MJ, Sibov TT, Pavon LF, Miyaki LA, Cárdenas WH, Malheiros SM, Brandt RA, Amaro Júnior E, Gamarra LF.

Einstein (Sao Paulo). 2012 Jan-Mar;10(1):11-5.

10.

Early-onset epileptic encephalopathy in a girl carrying a truncating mutation of the ARX gene: rethinking the ARX phenotype in females.

Bettella E, Di Rosa G, Polli R, Leonardi E, Tortorella G, Sartori S, Murgia A.

Clin Genet. 2013 Jul;84(1):82-5. doi: 10.1111/cge.12034. Epub 2012 Nov 7.

PMID:
23039062
11.

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.

Fehr S, Wilson M, Downs J, Williams S, Murgia A, Sartori S, Vecchi M, Ho G, Polli R, Psoni S, Bao X, de Klerk N, Leonard H, Christodoulou J.

Eur J Hum Genet. 2013 Mar;21(3):266-73. doi: 10.1038/ejhg.2012.156. Epub 2012 Aug 8.

12.

Manganese-enhanced magnetic resonance imaging detects mossy fiber sprouting in the pilocarpine model of epilepsy.

Malheiros JM, Polli RS, Paiva FF, Longo BM, Mello LE, Silva AC, Tannús A, Covolan L.

Epilepsia. 2012 Jul;53(7):1225-32. doi: 10.1111/j.1528-1167.2012.03521.x. Epub 2012 May 29.

13.

Pathogenic role of the X-linked cyclin-dependent kinase-like 5 and aristaless-related homeobox genes in epileptic encephalopathy of unknown etiology with onset in the first year of life.

Sartori S, Polli R, Bettella E, Rossato S, Andreoli W, Vecchi M, Giordano L, Accorsi P, Di Rosa G, Toldo I, Zamponi N, Darra F, Dalla Bernardina B, Perilongo G, Boniver C, Murgia A.

J Child Neurol. 2011 Jun;26(6):683-91. doi: 10.1177/0883073810387827. Epub 2011 Apr 11.

PMID:
21482751
14.

Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria.

Artuso R, Mencarelli MA, Polli R, Sartori S, Ariani F, Pollazzon M, Marozza A, Cilio MR, Specchio N, Vigevano F, Vecchi M, Boniver C, Dalla Bernardina B, Parmeggiani A, Buoni S, Hayek G, Mari F, Renieri A, Murgia A.

Brain Dev. 2010 Jan;32(1):17-24. doi: 10.1016/j.braindev.2009.02.004. Epub 2009 Apr 10.

PMID:
19362436
15.

A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome.

Sartori S, Di Rosa G, Polli R, Bettella E, Tricomi G, Tortorella G, Murgia A.

Am J Med Genet A. 2009 Feb;149A(2):232-6. doi: 10.1002/ajmg.a.32606.

PMID:
19161156
16.

Angelman syndrome due to a novel splicing mutation of the UBE3A gene.

Sartori S, Anesi L, Polli R, Toldo I, Casarin A, Drigo P, Murgia A.

J Child Neurol. 2008 Aug;23(8):912-5. doi: 10.1177/0883073808316367. Epub 2008 May 16.

PMID:
18487518
17.

Molecular analysis of two uncharacterized sequence variants of the VHL gene.

Martella M, Salviati L, Casarin A, Trevisson E, Opocher G, Polli R, Gross D, Murgia A.

J Hum Genet. 2006;51(11):964-8. Epub 2006 Sep 28.

PMID:
17006605
18.

Periventricular heterotopia in fragile X syndrome.

Moro F, Pisano T, Bernardina BD, Polli R, Murgia A, Zoccante L, Darra F, Battaglia A, Pramparo T, Zuffardi O, Guerrini R.

Neurology. 2006 Aug 22;67(4):713-5.

PMID:
16924033
20.

Connexin 26 preverbal hearing impairment: mutation prevalence and heterozygosity in a selected population.

Orzan E, Murgia A, Polli R, Martella M, Mazza A, Zacchello F, Babighian G.

Int J Audiol. 2002 Mar;41(2):120-4.

PMID:
12212857
21.

Molecular diagnosis of von Hippel-Lindau disease.

Murgia A, Martella M, Polli R, Piermarocchi S, Lo Giudice G, Opocher G.

Contrib Nephrol. 2001;(136):263-70. No abstract available.

PMID:
11688392
22.

Molecular genetics applied to clinical practice: the Cx26 hearing impairment.

Orzan E, Polli R, Martella M, Vinanzi C, Leonardi M, Murgia A.

Br J Audiol. 1999 Oct;33(5):291-5.

PMID:
10890143
23.

Somatic mosaicism in von Hippel-Lindau Disease.

Murgia A, Martella M, Vinanzi C, Polli R, Perilongo G, Opocher G.

Hum Mutat. 2000 Jan;15(1):114.

PMID:
10612832
24.

Cx26 deafness: mutation analysis and clinical variability.

Murgia A, Orzan E, Polli R, Martella M, Vinanzi C, Leonardi E, Arslan E, Zacchello F.

J Med Genet. 1999 Nov;36(11):829-32.

25.

Molecular diagnosis of inherited diseases.

Murgia A, Polli R, Martella M, Vinanzi C, Opocher G.

Clin Chim Acta. 1999 Feb;280(1-2):73-80. Review. Erratum in: Clin Chim Acta 1999 Apr;28(1-2):229. Murigia A [corrected to Murgia A].

PMID:
10090525
26.

The guanine triphosphatase (GTPase) activating protein (GAP)-related domain of the neurofibromatosis type 1 gene is not mutated in neural crest-derived sporadic tumours.

Murgia A, Anglani F, Vinanzi C, Polli R, Basso G, Perilongo G, Giangaspero F, Zacchello F.

Eur J Cancer. 1998 Mar;34(4):577-9.

PMID:
9713312
27.

Amplification of the Xq28 FRAXE repeats: extreme phenotype variability?

Murgia A, Polli R, Vinanzi C, Salis M, Drigo P, Artifoni L, Zacchello F.

Am J Med Genet. 1996 Aug 9;64(2):441-4.

PMID:
8844100
28.

FRAXA and FRAXE: new tools for the diagnosis of mental retardation.

Murgia A, Vinanzi C, Polli R, Artifoni L, Zacchello F.

Acta Genet Med Gemellol (Roma). 1996;45(1-2):295-7. No abstract available.

PMID:
8872051
29.

[Comparative changes of exocervical exfoliative cytology in intrauterine device users].

Mossa B, Polli R, Lo Preiato A.

Minerva Ginecol. 1986 Jan-Feb;38(1-2):81-4. Italian.

PMID:
3960380

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