Murgia A - Search Results

1

Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND).

Vera G, Sorlin A, Delplancq G, Lecoquierre F, Brasseur-Daudruy M, Petit F, Smol T, Ziegler A, Bonneau D, Colin E, Mercier S, Cogné B, Bézieau S, Edery P, Lesca G, Chatron N, Sabatier I, Duban-Bedu B, Colson C, Piton A, Durand B, Capri Y, Perrin L, Wiesener A, Zweier C, Maroofian R, Carroll CJ, Galehdari H, Mazaheri N, Callewaert B, Giulianno F, Zaafrane-Khachnaoui K, Buchert-Lo R, Haack T, Magg J, Rieß A, Blandfort M, Waldmüller S, Horber V, Leonardi E, Polli R, Turolla L, Murgia A, Frebourg T, Lebre AS, Nicolas G, Saugier-Veber P, Guerrot AM. Vera G, et al. Among authors: murgia a. Eur J Med Genet. 2020 Oct;63(10):104004. doi: 10.1016/j.ejmg.2020.104004. Epub 2020 Jul 17. Eur J Med Genet. 2020. PMID: 32688057

2

Linkage analysis of neurofibromatosis type 1. Study of a homogeneous North Italian population with five DNA markers of chromosome 17.

Clementi M, Murgia A, Anglani F, Tenconi R, Turolla L, Picci L, Zacchello F. Clementi M, et al. Among authors: murgia a. Hum Genet. 1991 May;87(1):91-4. doi: 10.1007/BF01213101. Hum Genet. 1991. PMID: 1674720

3

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. 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

4

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. 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.

5

Cx26 deafness: mutation analysis and clinical variability.

Murgia A, Orzan E, Polli R, Martella M, Vinanzi C, Leonardi E, Arslan E, Zacchello F. Murgia A, et al. J Med Genet. 1999 Nov;36(11):829-32. J Med Genet. 1999. PMID: 10544226 Free PMC article.

6

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

Orzan E, Polli R, Martella M, Vinanzi C, Leonardi M, Murgia A. Orzan E, et al. Among authors: murgia a. Br J Audiol. 1999 Oct;33(5):291-5. doi: 10.3109/03005369909090112. Br J Audiol. 1999. PMID: 10890143

7

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: murgia a. Int J Audiol. 2002 Mar;41(2):120-4. doi: 10.3109/14992020209090402. Int J Audiol. 2002. PMID: 12212857

8

Connexin 26 35delG does not represent a mutational hotspot.

Rothrock CR, Murgia A, Sartorato EL, Leonardi E, Wei S, Lebeis SL, Yu LE, Elfenbein JL, Fisher RA, Friderici KH. Rothrock CR, et al. Among authors: murgia a. Hum Genet. 2003 Jul;113(1):18-23. doi: 10.1007/s00439-003-0944-2. Epub 2003 Apr 9. Hum Genet. 2003. PMID: 12684873

9

A genotype-phenotype correlation for GJB2 (connexin 26) deafness.

Cryns K, Orzan E, Murgia A, Huygen PL, Moreno F, del Castillo I, Chamberlin GP, Azaiez H, Prasad S, Cucci RA, Leonardi E, Snoeckx RL, Govaerts PJ, Van de Heyning PH, Van de Heyning CM, Smith RJ, Van Camp G. Cryns K, et al. Among authors: murgia a. J Med Genet. 2004 Mar;41(3):147-54. doi: 10.1136/jmg.2003.013896. J Med Genet. 2004. PMID: 14985372 Free PMC article.

10

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: murgia a. Mol Diagn Ther. 2006;10(4):243-9. doi: 10.1007/BF03256463. Mol Diagn Ther. 2006. PMID: 16884328

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