Novelli G - Search Results

1

Three-hour analysis of non-invasive foetal sex determination: application of Plexor chemistry.

Pietropolli A, Capogna MV, Cascella R, Germani C, Bruno V, Strafella C, Sarta S, Ticconi C, Marmo G, Gallaro S, Longo G, Marsella LT, Novelli A, Novelli G, Piccione E, Giardina E. Pietropolli A, et al. Among authors: novelli g, novelli a. Hum Genomics. 2016 Apr 4;10:9. doi: 10.1186/s40246-016-0066-2. Hum Genomics. 2016. PMID: 27044517 Free PMC article.

2

Diagnosis of DiGeorge and Williams syndromes using FISH analysis of peripheral blood smears.

Novelli A, Sabani M, Caiola A, Digilio MC, Giannotti A, Mingarelli R, Novelli G, Dallapiccola B. Novelli A, et al. Among authors: novelli g. Mol Cell Probes. 1999 Aug;13(4):303-7. doi: 10.1006/mcpr.1999.0252. Mol Cell Probes. 1999. PMID: 10441203

3

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.

4

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.

5

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

6

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.

7

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

8

Prenatal diagnosis of spinal muscular atrophy with respiratory distress (SMARD1) in a twin pregnancy.

Sangiuolo F, Filareto A, Giardina E, Nardone AM, Pilu G, Pietropolli A, Bertini E, Novelli G. Sangiuolo F, et al. Among authors: novelli g. Prenat Diagn. 2004 Oct;24(10):839-41. doi: 10.1002/pd.964. Prenat Diagn. 2004. PMID: 15503272 No abstract available.

9

Characterization of the loricrin (LOR) gene as a positional candidate for the PSORS4 psoriasis susceptibility locus.

Giardina E, Capon F, De Rosa MC, Mango R, Zambruno G, Orecchia A, Chimenti S, Giardina B, Novelli G. Giardina E, et al. Among authors: novelli g. Ann Hum Genet. 2004 Nov;68(Pt 6):639-45. doi: 10.1046/j.1529-8817.2004.00118.x. Ann Hum Genet. 2004. PMID: 15598222

10

Segregation analysis in cystic fibrosis at-risk family demonstrates that the M348K CFTR mutation is a rare innocuous polymorphism.

D'Apice MR, Gambardella S, Russo S, Lucidi V, Nardone AM, Pietropolli A, Novelli G. D'Apice MR, et al. Among authors: novelli g. Prenat Diagn. 2004 Dec 15;24(12):981-3. doi: 10.1002/pd.1058. Prenat Diagn. 2004. PMID: 15614862

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