Polli R - Search Results

1

Activation Ratio Correlates with IQ in Female Carriers of the FMR1 Premutation.

Protic D, Polli R, Hwang YH, Mendoza G, Hagerman R, Durbin-Johnson B, Hayward BE, Usdin K, Murgia A, Tassone F. Protic D, et al. Among authors: polli r. Cells. 2023 Jun 24;12(13):1711. doi: 10.3390/cells12131711. Cells. 2023. PMID: 37443745 Free PMC article.

2

Amplification of the Xq28 FRAXE repeats: extreme phenotype variability?

Murgia A, Polli R, Vinanzi C, Salis M, Drigo P, Artifoni L, Zacchello F. Murgia A, et al. Among authors: polli r. Am J Med Genet. 1996 Aug 9;64(2):441-4. doi: 10.1002/(SICI)1096-8628(19960809)64:2<441::AID-AJMG41>3.0.CO;2-C. Am J Med Genet. 1996. PMID: 8844100

3

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

Murgia A, Vinanzi C, Polli R, Artifoni L, Zacchello F. Murgia A, et al. Among authors: polli r. Acta Genet Med Gemellol (Roma). 1996;45(1-2):295-7. doi: 10.1017/s0001566000001501. Acta Genet Med Gemellol (Roma). 1996. PMID: 8872051 No abstract available.

4

Molecular diagnosis of inherited diseases.

Murgia A, Polli R, Martella M, Vinanzi C, Opocher G. Murgia A, et al. Among authors: polli r. Clin Chim Acta. 1999 Feb;280(1-2):73-80. doi: 10.1016/s0009-8981(98)00199-5. Clin Chim Acta. 1999. PMID: 10090525 Review.

5

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. Orzan E, et al. Among authors: polli r. Int J Audiol. 2002 Mar;41(2):120-4. doi: 10.3109/14992020209090402. Int J Audiol. 2002. PMID: 12212857

6

Molecular characterization of large deletions in the von Hippel-Lindau (VHL) gene by quantitative real-time PCR: the hypothesis of an alu-mediated mechanism underlying VHL gene rearrangements.

Casarin A, Martella M, Polli R, Leonardi E, Anesi L, Murgia A. Casarin A, et al. Among authors: polli r. Mol Diagn Ther. 2006;10(4):243-9. doi: 10.1007/BF03256463. Mol Diagn Ther. 2006. PMID: 16884328

7

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. Moro F, et al. Among authors: polli r. Neurology. 2006 Aug 22;67(4):713-5. doi: 10.1212/01.wnl.0000230223.51595.99. Neurology. 2006. PMID: 16924033

8

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. Martella M, et al. Among authors: polli r. J Hum Genet. 2006;51(11):964-968. doi: 10.1007/s10038-006-0054-9. Epub 2006 Sep 28. J Hum Genet. 2006. PMID: 17006605

9

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. Sartori S, et al. Among authors: polli r. J Child Neurol. 2008 Aug;23(8):912-5. doi: 10.1177/0883073808316367. Epub 2008 May 16. J Child Neurol. 2008. PMID: 18487518

10

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. Sartori S, et al. Among authors: polli r. Am J Med Genet A. 2009 Feb;149A(2):232-6. doi: 10.1002/ajmg.a.32606. Am J Med Genet A. 2009. PMID: 19161156

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

45 results

Search Page

Filters