Piemontese MR - Search Results

1

An emerging phenotype of interstitial 15q25.2 microdeletions: clinical report and review.

Palumbo O, Palumbo P, Palladino T, Stallone R, Miroballo M, Piemontese MR, Zelante L, Carella M. Palumbo O, et al. Among authors: piemontese mr. Am J Med Genet A. 2012 Dec;158A(12):3182-9. doi: 10.1002/ajmg.a.35631. Epub 2012 Nov 19. Am J Med Genet A. 2012. PMID: 23166063

2

Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci.

Garavelli L, Piemontese MR, Cavazza A, Rosato S, Wischmeijer A, Gelmini C, Albertini E, Albertini G, Forzano F, Franchi F, Carella M, Zelante L, Superti-Furga A. Garavelli L, et al. Among authors: piemontese mr. Am J Med Genet A. 2013 Nov;161A(11):2894-901. doi: 10.1002/ajmg.a.36259. Epub 2013 Oct 7. Am J Med Genet A. 2013. PMID: 24124115

3

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

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

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.

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

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

8

GPR143 mutational analysis in two Italian families with X-linked ocular albinism.

Micale L, Augello B, Fusco C, Turturo MG, Granatiero M, Piemontese MR, Zelante L, Cecconi A, Merla G. Micale L, et al. Among authors: piemontese mr. Genet Test Mol Biomarkers. 2009 Aug;13(4):527-31. doi: 10.1089/gtmb.2009.0030. Genet Test Mol Biomarkers. 2009. PMID: 19604113

9

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

10

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

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