Piemontese MR - Search Results

1

Detection of dystrophin deletion carriers using FISH analysis.

Calvano S, Memeo E, Piemontese MR, Melchionda S, Bisceglia L, Gasparini P, Zelante L. Calvano S, et al. Among authors: piemontese mr. Clin Genet. 1997 Jul;52(1):17-22. doi: 10.1111/j.1399-0004.1997.tb02509.x. Clin Genet. 1997. PMID: 9272708

2

Screening of neurofibromatosis type 1 gene: identification of a large deletion and of an intronic variant.

Grifa A, Piemontese MR, Melchionda S, Origone P, Zelante L, Coviello D, Fratta G, Dallapiccola B, Balestrazzi P, Ajmar F, et al. Grifa A, et al. Among authors: piemontese mr. Clin Genet. 1995 Jun;47(6):281-4. doi: 10.1111/j.1399-0004.1995.tb03965.x. Clin Genet. 1995. PMID: 7554359

3

Novel mutations of dystrophin gene in DMD patients detected by rapid scanning in biplex exons DHPLC analysis.

Muscarella LA, Piemontese MR, Barbano R, Fazio A, Guarnieri V, Quattrone A, Zelante L. Muscarella LA, et al. Among authors: piemontese mr. Biomol Eng. 2007 Jun;24(2):231-6. doi: 10.1016/j.bioeng.2006.10.003. Epub 2006 Nov 7. Biomol Eng. 2007. PMID: 17145200

4

A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H.

Bisceglia L, Zoccolella S, Torraco A, Piemontese MR, Dell'Aglio R, Amati A, De Bonis P, Artuso L, Copetti M, Santorelli FM, Serlenga L, Zelante L, Bertini E, Petruzzella V. Bisceglia L, et al. Among authors: piemontese mr. Eur J Hum Genet. 2010 Jun;18(6):636-41. doi: 10.1038/ejhg.2009.235. Epub 2010 Jan 13. Eur J Hum Genet. 2010. PMID: 20068593 Free PMC article.

5

A YAC contig spanning the blepharophimosis-ptosis-epicanthus inversus syndrome and propionic acidemia loci.

Piemontese MR, Memeo E, Carella M, Amati P, Chomel JC, Bonneau D, Pilia G, Cao A, Drabkin H, Gemmill R, Rommens J, Zelante L, Gasparini P, Bisceglia L. Piemontese MR, et al. Eur J Hum Genet. 1997 May-Jun;5(3):171-4. Eur J Hum Genet. 1997. PMID: 9272742

6

Linkage analysis in two large Italian pedigrees affected with nail patella syndrome.

Melchionda S, Seri M, Carella M, Piemontese MR, Zhang XX, Zelante L, Romeo G, Gasparini P. Melchionda S, et al. Among authors: piemontese mr. Eur J Hum Genet. 1998 Jul-Aug;6(4):345-9. doi: 10.1038/sj.ejhg.5200191. Eur J Hum Genet. 1998. PMID: 9781042

7

Cytogenetic and molecular analysis of trisomy 9. Case report and review.

Zelante L, Notarangelo A, Croce AI, Piemontese MR, Gasparini P. Zelante L, et al. Among authors: piemontese mr. Ann Genet. 1994;37(1):21-5. Ann Genet. 1994. PMID: 8010708

8

Linkage analysis of Fanconi anaemia in Italy and mapping of the complementation group A gene.

Savoia A, Piemontese MR, Savino M, Zatterale A, Pronk J, Arwert F, Joenje H, Ramenghi U, Dagna-Bricarelli F, Dallapiccola B, Zelante L. Savoia A, et al. Among authors: piemontese mr. Hum Genet. 1997 Jan;99(1):93-7. doi: 10.1007/s004390050318. Hum Genet. 1997. PMID: 9003502

9

Cellular Retinol Binding Protein 1 (RBP1): a frequent polymorphism, refined map position and exclusion as the Blepharophimosis Ptosis Epicanthus inversus Syndrome gene.

Bisceglia L, d'Ambrosio L, Piemontese MR, Carella M, Amati P, Bonneau D, Pilia G, Gasparini P, Zelante L. Bisceglia L, et al. Among authors: piemontese mr. Mol Cell Probes. 1998 Aug;12(4):255-8. doi: 10.1006/mcpr.1998.0171. Mol Cell Probes. 1998. PMID: 9727204 No abstract available.

10

Two 48,XXYY patients: clinical, cytogenetic and molecular aspects.

Zelante L, Piemontese MR, Francioli G, Calvano S. Zelante L, et al. Among authors: piemontese mr. Ann Genet. 2003 Oct-Dec;46(4):479-81. doi: 10.1016/s0003-3995(03)00030-3. Ann Genet. 2003. PMID: 14659786

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

27 results

Search Page

Filters