Murgia A - Search Results

1

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.

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

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. Murgia A, et al. Eur J Cancer. 1998 Mar;34(4):577-9. doi: 10.1016/s0959-8049(97)10078-8. Eur J Cancer. 1998. PMID: 9713312

6

Molecular diagnosis of inherited diseases.

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

7

Somatic mosaicism in von Hippel-Lindau Disease.

Murgia A, Martella M, Vinanzi C, Polli R, Perilongo G, Opocher G. Murgia A, et al. Hum Mutat. 2000 Jan;15(1):114. doi: 10.1002/(SICI)1098-1004(200001)15:1<114::AID-HUMU20>3.0.CO;2-7. Hum Mutat. 2000. PMID: 10612832

8

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

9

Retinal abnormalities associated with a mutation of the nucleotide 683 in von Hippel-Lindau disease.

Piermarocchi S, Lo Giudice G, Pilotto E, Bertoja E, Scaroni C, Martella M, Opocher G, Murgia A. Piermarocchi S, et al. Among authors: murgia a. Graefes Arch Clin Exp Ophthalmol. 2000 Jul;238(7):615-20. doi: 10.1007/s004170000129. Graefes Arch Clin Exp Ophthalmol. 2000. PMID: 10955664

10

Molecular diagnosis of von Hippel-Lindau disease.

Murgia A, Martella M, Polli R, Piermarocchi S, Lo Giudice G, Opocher G. Murgia A, et al. Contrib Nephrol. 2001;(136):263-70. doi: 10.1159/000060193. Contrib Nephrol. 2001. PMID: 11688392 No abstract available.

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