Novelli G - Search Results

1

Epigenetics of Myotonic Dystrophies: A Minireview.

Visconti VV, Centofanti F, Fittipaldi S, Macrì E, Novelli G, Botta A. Visconti VV, et al. Among authors: novelli g. Int J Mol Sci. 2021 Nov 22;22(22):12594. doi: 10.3390/ijms222212594. Int J Mol Sci. 2021. PMID: 34830473 Free PMC article. Review.

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

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

4

(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

5

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

6

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

7

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

8

A single polymerase chain reaction-based protocol for detecting normal and expanded alleles in myotonic dystrophy.

Gennarelli M, Pavoni M, Amicucci P, Novelli G, Dallapiccola B. Gennarelli M, et al. Among authors: novelli g. Diagn Mol Pathol. 1998 Jun;7(3):135-7. doi: 10.1097/00019606-199806000-00002. Diagn Mol Pathol. 1998. PMID: 9836067

9

Searching for psoriasis susceptibility genes in Italy: genome scan and evidence for a new locus on chromosome 1.

Capon F, Novelli G, Semprini S, Clementi M, Nudo M, Vultaggio P, Mazzanti C, Gobello T, Botta A, Fabrizi G, Dallapiccola B. Capon F, et al. Among authors: novelli g. J Invest Dermatol. 1999 Jan;112(1):32-5. doi: 10.1046/j.1523-1747.1999.00471.x. J Invest Dermatol. 1999. PMID: 9886260 Free article.

10

Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. Online.

Sangiuolo F, Botta A, Mesoraca A, Servidei S, Merlini L, Fratta G, Novelli G, Dallapiccola B. Sangiuolo F, et al. Among authors: novelli g. Hum Mutat. 1998;11(4):331. doi: 10.1002/(SICI)1098-1004(1998)11:4<331::AID-HUMU12>3.0.CO;2-3. Hum Mutat. 1998. PMID: 10215406

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