Vinanzi C - Search Results

1

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

2

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: vinanzi c. J Med Genet. 1999 Nov;36(11):829-32. J Med Genet. 1999. PMID: 10544226 Free PMC article.

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: vinanzi c. 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: vinanzi c. 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

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: vinanzi c. 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

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: vinanzi c. 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

7

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. Among authors: vinanzi c. Eur J Cancer. 1998 Mar;34(4):577-9. doi: 10.1016/s0959-8049(97)10078-8. Eur J Cancer. 1998. PMID: 9713312

8

Detailed functional studies on androgen receptor mild mutations demonstrate their association with male infertility.

Zuccarello D, Ferlin A, Vinanzi C, Prana E, Garolla A, Callewaert L, Claessens F, Brinkmann AO, Foresta C. Zuccarello D, et al. Among authors: vinanzi c. Clin Endocrinol (Oxf). 2008 Apr;68(4):580-8. doi: 10.1111/j.1365-2265.2007.03069.x. Epub 2007 Oct 29. Clin Endocrinol (Oxf). 2008. PMID: 17970778

9

Molecular analysis of the androgen receptor gene in testicular cancer.

Garolla A, Ferlin A, Vinanzi C, Roverato A, Sotti G, Artibani W, Foresta C. Garolla A, et al. Among authors: vinanzi c. Endocr Relat Cancer. 2005 Sep;12(3):645-55. doi: 10.1677/erc.1.00954. Endocr Relat Cancer. 2005. PMID: 16172197

10

A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report.

Rocca MS, Piatti G, Michelucci A, Guazzo R, Bertini V, Vinanzi C, Caligo MA, Valetto A, Foresta C. Rocca MS, et al. Among authors: vinanzi c. BMC Med Genet. 2020 Nov 10;21(1):220. doi: 10.1186/s12881-020-01160-5. BMC Med Genet. 2020. PMID: 33167880 Free PMC article.

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