Novelli G - Search Results

1

Cohort Analysis of 67 Charcot-Marie-Tooth Italian Patients: Identification of New Mutations and Broadening of Phenotype Expression Produced by Rare Variants.

Ferese R, Campopiano R, Scala S, D'Alessio C, Storto M, Buttari F, Centonze D, Logroscino G, Zecca C, Zampatti S, Fornai F, Cianci V, Manfroi E, Giardina E, Magnani M, Suppa A, Novelli G, Gambardella S. Ferese R, et al. Among authors: novelli g. Front Genet. 2021 Jul 19;12:682050. doi: 10.3389/fgene.2021.682050. eCollection 2021. Front Genet. 2021. PMID: 34354735 Free PMC article.

2

Mapping a dominant form of multinodular goiter to chromosome Xp22.

Capon F, Tacconelli A, Giardina E, Sciacchitano S, Bruno R, Tassi V, Trischitta V, Filetti S, Dallapiccola B, Novelli G. Capon F, et al. Among authors: novelli g. Am J Hum Genet. 2000 Oct;67(4):1004-7. doi: 10.1086/303095. Epub 2000 Sep 11. Am J Hum Genet. 2000. PMID: 10986044 Free PMC article.

3

Mutational analysis of Peroxiredoxin IV: exclusion of a positional candidate for multinodular goitre.

Giardina E, Capon F, D'Apice MR, Amati F, Arturi F, Filetti S, Bonifazi E, Pucci S, Conte C, Novelli G. Giardina E, et al. Among authors: novelli g. BMC Med Genet. 2002 Jul 23;3:5. doi: 10.1186/1471-2350-3-5. Epub 2002 Jul 23. BMC Med Genet. 2002. PMID: 12135533 Free PMC article.

4

Evidence for differential S100 gene over-expression in psoriatic patients from genetically heterogeneous pedigrees.

Semprini S, Capon F, Tacconelli A, Giardina E, Orecchia A, Mingarelli R, Gobello T, Zambruno G, Botta A, Fabrizi G, Novelli G. Semprini S, et al. Among authors: novelli g. Hum Genet. 2002 Oct;111(4-5):310-3. doi: 10.1007/s00439-002-0812-5. Epub 2002 Aug 21. Hum Genet. 2002. PMID: 12384771

5

Role of genetics in prevention of coronary atherosclerosis.

Novelli G, Borgiani P, Giardina E, Mango R, Contino G, Romeo F, Mehta JL. Novelli G, et al. Curr Opin Cardiol. 2003 Sep;18(5):368-71. doi: 10.1097/00001573-200309000-00008. Curr Opin Cardiol. 2003. PMID: 12960469 Review.

6

Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency.

Sangiuolo F, Magnani M, Stambolian D, Novelli G. Sangiuolo F, et al. Among authors: novelli g. Hum Mutat. 2004 Apr;23(4):396. doi: 10.1002/humu.9223. Hum Mutat. 2004. PMID: 15024738

7

Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy.

D'Apice MR, Gambardella S, Bengala M, Russo S, Nardone AM, Lucidi V, Sangiuolo F, Novelli G. D'Apice MR, et al. Among authors: novelli g. BMC Med Genet. 2004 Apr 14;5:8. doi: 10.1186/1471-2350-5-8. BMC Med Genet. 2004. PMID: 15084222 Free PMC article.

8

Psoriatic arthritis and CARD15 gene polymorphisms: no evidence for association in the Italian population.

Giardina E, Novelli G, Costanzo A, Nisticò S, Bulli C, Sinibaldi C, Sorgi ML, Chimenti S, Pallone F, Taccari E, Borgiani P. Giardina E, et al. Among authors: novelli g. J Invest Dermatol. 2004 May;122(5):1106-7. doi: 10.1111/j.0022-202X.2004.22524.x. J Invest Dermatol. 2004. PMID: 15140210 Free article.

9

The psoriasis genetics as a model of complex disease.

Giardina E, Sinibaldi C, Novelli G. Giardina E, et al. Among authors: novelli g. Curr Drug Targets Inflamm Allergy. 2004 Jun;3(2):129-36. doi: 10.2174/1568010043343877. Curr Drug Targets Inflamm Allergy. 2004. PMID: 15180465 Review.

10

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

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