Novelli A - Search Results

1

A Novel COL4A5 Pathogenic Variant Joins the Dots in a Family with a Synchronous Diagnosis of Alport Syndrome and Polycystic Kidney Disease.

Graziani L, Minotti C, Carriero ML, Bengala M, Lai S, Terracciano A, Novelli A, Novelli G. Graziani L, et al. Among authors: novelli g, novelli a. Genes (Basel). 2024 May 8;15(5):597. doi: 10.3390/genes15050597. Genes (Basel). 2024. PMID: 38790225 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

Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome.

Amati F, Conti E, Novelli A, Bengala M, Diglio MC, Marino B, Giannotti A, Gabrielli O, Novelli G, Dallapiccola B. Amati F, et al. Among authors: novelli g, novelli a. Eur J Hum Genet. 1999 Dec;7(8):903-9. doi: 10.1038/sj.ejhg.5200399. Eur J Hum Genet. 1999. PMID: 10602366

4

Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes.

Botta A, Novelli G, Mari A, Novelli A, Sabani M, Korenberg J, Osborne LR, Digilio MC, Giannotti A, Dallapiccola B. Botta A, et al. Among authors: novelli g, novelli a. J Med Genet. 1999 Jun;36(6):478-80. J Med Genet. 1999. PMID: 10874638 Free PMC article.

5

Expression analysis of the gene encoding for the U-box-type ubiquitin ligase UBE4A in human tissues.

Contino G, Amati F, Pucci S, Pontieri E, Pichiorri F, Novelli A, Botta A, Mango R, Nardone AM, Sangiuolo FC, Citro G, Spagnoli LG, Novelli G. Contino G, et al. Among authors: novelli g, novelli a. Gene. 2004 Mar 17;328:69-74. doi: 10.1016/j.gene.2003.11.017. Gene. 2004. PMID: 15019985

6

Androgen insensitivity syndrome (or Morris syndrome) and other associated pathologies.

Dell'Edera D, Malvasi A, Vitullo E, Epifania AA, Tinelli A, Laterza F, Novelli A, Pacella E, Mazzone E, Novelli G. Dell'Edera D, et al. Among authors: novelli g, novelli a. Eur Rev Med Pharmacol Sci. 2010 Nov;14(11):947-57. Eur Rev Med Pharmacol Sci. 2010. PMID: 21284344

7

Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?

D'Apice MR, Novelli A, di Masi A, Biancolella M, Antoccia A, Gullotta F, Licata N, Minella D, Testa B, Nardone AM, Palmieri G, Calabrese E, Biancone L, Tanzarella C, Frontali M, Sangiuolo F, Novelli G, Pallone F. D'Apice MR, et al. Among authors: novelli g, novelli a. BMC Med Genet. 2015 Apr 2;16:20. doi: 10.1186/s12881-015-0164-3. BMC Med Genet. 2015. PMID: 25927938 Free PMC article.

8

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.

9

Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N-terminal TUBB gene.

Dentici ML, Terracciano A, Bellacchio E, Capolino R, Novelli A, Digilio MC, Dallapiccola B. Dentici ML, et al. Among authors: novelli a. Clin Genet. 2018 Jun;93(6):1223-1228. doi: 10.1111/cge.13232. Epub 2018 Apr 11. Clin Genet. 2018. PMID: 29427453

10

ALG12-CDG: novel glycophenotype insights endorse the molecular defect.

Sturiale L, Bianca S, Garozzo D, Terracciano A, Agolini E, Messina A, Palmigiano A, Esposito F, Barone C, Novelli A, Fiumara A, Jaeken J, Barone R. Sturiale L, et al. Among authors: novelli a. Glycoconj J. 2019 Dec;36(6):461-472. doi: 10.1007/s10719-019-09890-2. Epub 2019 Sep 16. Glycoconj J. 2019. PMID: 31529350

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