Fortina P - Search Results

1

Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss.

Bason L, Dudley T, Lewis K, Shah U, Potsic W, Ferraris A, Fortina P, Rappaport E, Krantz ID. Bason L, et al. Among authors: fortina p. Clin Genet. 2002 Jun;61(6):459-64. doi: 10.1034/j.1399-0004.2002.610611.x. Clin Genet. 2002. PMID: 12121355

2

Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss.

Ferraris A, Rappaport E, Santacroce R, Pollak E, Krantz I, Toth S, Lysholm F, Margaglione M, Restagno G, Dallapiccola B, Surrey S, Fortina P. Ferraris A, et al. Among authors: fortina p. Hum Mutat. 2002 Oct;20(4):312-20. doi: 10.1002/humu.10127. Hum Mutat. 2002. PMID: 12325027

3

Parallel molecular genetic analysis.

McKenzie SE, Mansfield E, Rappaport E, Surrey S, Fortina P. McKenzie SE, et al. Among authors: fortina p. Eur J Hum Genet. 1998 Sep-Oct;6(5):417-29. doi: 10.1038/sj.ejhg.5200218. Eur J Hum Genet. 1998. PMID: 9801865 Review.

4

Analysis of clinically relevant single-nucleotide polymorphisms by use of microelectronic array technology.

Santacroce R, Ratti A, Caroli F, Foglieni B, Ferraris A, Cremonesi L, Margaglione M, Seri M, Ravazzolo R, Restagno G, Dallapiccola B, Rappaport E, Pollak ES, Surrey S, Ferrari M, Fortina P. Santacroce R, et al. Among authors: fortina p. Clin Chem. 2002 Dec;48(12):2124-30. Clin Chem. 2002. PMID: 12446467

5

Connexin-26 mutations in sporadic and inherited sensorineural deafness.

Estivill X, Fortina P, Surrey S, Rabionet R, Melchionda S, D'Agruma L, Mansfield E, Rappaport E, Govea N, Milà M, Zelante L, Gasparini P. Estivill X, et al. Among authors: fortina p. Lancet. 1998 Feb 7;351(9100):394-8. doi: 10.1016/S0140-6736(97)11124-2. Lancet. 1998. PMID: 9482292 Free article.

6

CARD15 genotyping in inflammatory bowel disease patients by multiplex pyrosequencing.

Palmieri O, Toth S, Ferraris A, Andriulli A, Latiano A, Annese V, Dallapiccola B, Vecchi M, Devoto M, Surrey S, Fortina P. Palmieri O, et al. Among authors: fortina p. Clin Chem. 2003 Oct;49(10):1675-9. doi: 10.1373/49.10.1675. Clin Chem. 2003. PMID: 14500598 No abstract available.

7

Non-radioactive detection of the most common mutations in the cystic fibrosis transmembrane conductance regulator gene by multiplex allele-specific polymerase chain reaction.

Fortina P, Conant R, Monokian G, Dotti G, Parrella T, Hitchcock W, Kant J, Scanlin T, Rappaport E, Schwartz E, et al. Fortina P, et al. Hum Genet. 1992 Dec;90(4):375-8. doi: 10.1007/BF00220462. Hum Genet. 1992. PMID: 1282898

8

Detection of the most common mutations causing beta-thalassemia in Mediterraneans using a multiplex amplification refractory mutation system (MARMS).

Fortina P, Dotti G, Conant R, Monokian G, Parrella T, Hitchcock W, Rappaport E, Schwartz E, Surrey S. Fortina P, et al. PCR Methods Appl. 1992 Nov;2(2):163-6. doi: 10.1101/gr.2.2.163. PCR Methods Appl. 1992. PMID: 1477672 Free article.

9

Fluorescence-based DNA minisequence analysis for detection of known single-base changes in genomic DNA.

Kobayashi M, Rappaport E, Blasband A, Semeraro A, Sartore M, Surrey S, Fortina P. Kobayashi M, et al. Among authors: fortina p. Mol Cell Probes. 1995 Jun;9(3):175-82. doi: 10.1006/mcpr.1995.0027. Mol Cell Probes. 1995. PMID: 7477010 Free article.

10

Infundibulopelvic stenosis, multicystic kidney, and calyectasis in a kindred: clinical observations and genetic analysis.

Kobayashi M, Kaplan BS, Bellah RD, Sartore M, Rappaport E, Steele MW, Mansfield E, Gasparini P, Surrey S, Fortina P. Kobayashi M, et al. Among authors: fortina p. Am J Med Genet. 1995 Nov 6;59(2):218-24. doi: 10.1002/ajmg.1320590219. Am J Med Genet. 1995. PMID: 8588589

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

216 results

Search Page

Filters