Martella M - Search Results

1

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

2

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: martella m. Br J Audiol. 1999 Oct;33(5):291-5. doi: 10.3109/03005369909090112. Br J Audiol. 1999. PMID: 10890143

3

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. Among authors: martella m. J Med Genet. 1999 Nov;36(11):829-32. J Med Genet. 1999. PMID: 10544226 Free PMC article.

4

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. 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

5

Somatic mosaicism in von Hippel-Lindau Disease.

Murgia A, Martella M, Vinanzi C, Polli R, Perilongo G, Opocher G. Murgia A, et al. Among authors: martella m. 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

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

7

Identification and in silico analysis of novel von Hippel-Lindau (VHL) gene variants from a large population.

Leonardi E, Martella M, Tosatto SC, Murgia A. Leonardi E, et al. Among authors: martella m. Ann Hum Genet. 2011 Jul;75(4):483-96. doi: 10.1111/j.1469-1809.2011.00647.x. Epub 2011 Apr 4. Ann Hum Genet. 2011. PMID: 21463266

8

Molecular diagnosis of inherited diseases.

Murgia A, Polli R, Martella M, Vinanzi C, Opocher G. Murgia A, et al. Among authors: martella m. 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.

9

Molecular diagnosis of von Hippel-Lindau disease.

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

10

Fine analysis of the short arm of chromosome 1 in sporadic and familial pheochromocytoma.

Opocher G, Schiavi F, Vettori A, Pampinella F, Vitiello L, Calderan A, Vianello B, Murgia A, Martella M, Taccaliti A, Mantero F, Mostacciuolo ML. Opocher G, et al. Among authors: martella m. Clin Endocrinol (Oxf). 2003 Dec;59(6):707-15. doi: 10.1046/j.1365-2265.2003.01910.x. Clin Endocrinol (Oxf). 2003. PMID: 14974911

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

103 results

Search Page

Filters