Novelli G - Search Results

1

A long PCR-based molecular protocol for detecting normal and expanded ZNF9 alleles in myotonic dystrophy type 2.

Bonifazi E, Vallo L, Giardina E, Botta A, Novelli G. Bonifazi E, et al. Among authors: novelli g. Diagn Mol Pathol. 2004 Sep;13(3):164-6. Diagn Mol Pathol. 2004. PMID: 15322428

2

Expansion of the myotonic dystrophy gene in Italian and Spanish patients.

Melchionda S, Cobo A, Gennarelli M, Martorell L, Fattorini C, Baiget M, Lopez de Munain A, Johnson K, Shelbourne P, Novelli G, et al. Melchionda S, et al. Among authors: novelli g. J Med Genet. 1992 Nov;29(11):789-90. doi: 10.1136/jmg.29.11.789. J Med Genet. 1992. PMID: 1453428 Free PMC article.

3

Polymerase chain reaction in the detection of mRNA transcripts from the slow skeletal troponin T (TNNT1) gene in myotonic dystrophy and normal muscle.

Novelli G, Gennarelli M, Zelano G, Sangiuolo F, Lo Cicero S, Samson F, Dallapiccola B. Novelli G, et al. Cell Biochem Funct. 1992 Dec;10(4):251-6. doi: 10.1002/cbf.290100407. Cell Biochem Funct. 1992. PMID: 1473264

4

Postzygotic instability of the myotonic dystrophy p[AGC] in repeat supported by larger expansions in muscle and reduced amplifications in sperm.

Massari A, Gennarelli M, Menegazzo E, Pizzuti A, Silani V, Mastrogiacomo I, Pagani E, Angelini C, Scarlato G, Novelli G, et al. Massari A, et al. Among authors: novelli g. J Neurol. 1995 Jun;242(6):379-83. doi: 10.1007/BF00868393. J Neurol. 1995. PMID: 7561966

5

Discordant clinical outcome in myotonic dystrophy relatives showing (CTG)n > 700 repeats.

Novelli G, Gennarelli M, Menegazzo E, Angelini C, Dallapiccola B. Novelli G, et al. Neuromuscul Disord. 1995 Mar;5(2):157-9. doi: 10.1016/0960-8966(94)00044-a. Neuromuscul Disord. 1995. PMID: 7767095

6

(CTG)n triplet mutation and phenotype manifestations in myotonic dystrophy patients.

Novelli G, Gennarelli M, Menegazzo E, Mostacciuolo ML, Pizzuti A, Fattorini C, Tessarolo D, Tomelleri G, Giacanelli M, Danieli GA, et al. Novelli G, et al. Biochem Med Metab Biol. 1993 Aug;50(1):85-92. doi: 10.1006/bmmb.1993.1049. Biochem Med Metab Biol. 1993. PMID: 8373638

7

Failure in detecting mRNA transcripts from the mutated allele in myotonic dystrophy muscle.

Novelli G, Gennarelli M, Zelano G, Pizzuti A, Fattorini C, Caskey CT, Dallapiccola B. Novelli G, et al. Biochem Mol Biol Int. 1993 Feb;29(2):291-7. Biochem Mol Biol Int. 1993. PMID: 8495213

8

Simultaneous detection of delta F508, G542X, N1303K, G551D, and 1717-1G-->A cystic fibrosis alleles by a multiplex DNA enzyme immunoassay.

Sangiuolo F, Maceratesi P, Mesoraca A, Botta A, Cavicchini A, Novelli G, Dallapiccola B. Sangiuolo F, et al. Among authors: novelli g. Int J Clin Lab Res. 1995;25(3):142-5. doi: 10.1007/BF02592555. Int J Clin Lab Res. 1995. PMID: 8562976

9

Prediction of myotonic dystrophy clinical severity based on the number of intragenic [CTG]n trinucleotide repeats.

Gennarelli M, Novelli G, Andreasi Bassi F, Martorell L, Cornet M, Menegazzo E, Mostacciuolo ML, Martinez JM, Angelini C, Pizzuti A, Baiget M, Dallapiccola B. Gennarelli M, et al. Among authors: novelli g. Am J Med Genet. 1996 Nov 11;65(4):342-7. doi: 10.1002/(SICI)1096-8628(19961111)65:4<342::AID-AJMG18>3.0.CO;2-U. Am J Med Genet. 1996. PMID: 8923947

10

Genomic instability associated with myotonic dystrophy does not involve p53 expression and activity.

Gennarelli M, Lucarelli M, Amicucci P, Soddu S, Novelli G, Dallapiccola B. Gennarelli M, et al. Among authors: novelli g. Cell Biochem Funct. 1998 Jun;16(2):117-22. doi: 10.1002/(SICI)1099-0844(199806)16:2<117::AID-CBF776>3.0.CO;2-X. Cell Biochem Funct. 1998. PMID: 9636999

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