Stuppia L - Search Results

1

Clinical usefulness of NGS multi-gene panel testing in hereditary cancer analysis.

Anaclerio F, Pilenzi L, Dell'Elice A, Ferrante R, Grossi S, Ferlito LM, Marinelli C, Gildetti S, Calabrese G, Stuppia L, Antonucci I. Anaclerio F, et al. Among authors: stuppia l. Front Genet. 2023 Feb 1;14:1060504. doi: 10.3389/fgene.2023.1060504. eCollection 2023. Front Genet. 2023. PMID: 37065479 Free PMC article.

2

C677T mutation in the 5,10-MTHFR gene and risk of Down syndrome in Italy.

Stuppia L, Gatta V, Gaspari AR, Antonucci I, Morizio E, Calabrese G, Palka G. Stuppia L, et al. Eur J Hum Genet. 2002 Jun;10(6):388-90. doi: 10.1038/sj.ejhg.5200819. Eur J Hum Genet. 2002. PMID: 12080391

3

A Novel Heterozygous Mutation of the CYP17A1 Gene in a Child with a Micropenis and Isolated 17,20-Lyase Deficiency.

Saltarelli MA, Ferrante R, Marcello FD, David D, Valentinuzzi S, Pilenzi L, Federici L, Rossi C, Stuppia L, Tumini S. Saltarelli MA, et al. Among authors: stuppia l. Int J Environ Res Public Health. 2022 Jun 4;19(11):6880. doi: 10.3390/ijerph19116880. Int J Environ Res Public Health. 2022. PMID: 35682463 Free PMC article.

4

The epigenetic aging, obesity, and lifestyle.

Franzago M, Pilenzi L, Di Rado S, Vitacolonna E, Stuppia L. Franzago M, et al. Among authors: stuppia l. Front Cell Dev Biol. 2022 Sep 13;10:985274. doi: 10.3389/fcell.2022.985274. eCollection 2022. Front Cell Dev Biol. 2022. PMID: 36176280 Free PMC article. Review.

5

Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs.

Stuppia L, Antonucci I, Binni F, Brandi A, Grifone N, Colosimo A, De Santo M, Gatta V, Gelli G, Guida V, Majore S, Calabrese G, Palka C, Ravani A, Rinaldi R, Tiboni GM, Ballone E, Venturoli A, Ferlini A, Torrente I, Grammatico P, Calzolari E, Dallapiccola B. Stuppia L, et al. Eur J Hum Genet. 2005 Aug;13(8):959-64. doi: 10.1038/sj.ejhg.5201437. Eur J Hum Genet. 2005. PMID: 15870824

6

Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay.

Gatta V, Antonucci I, Morizio E, Palka C, Fischetto R, Mokini V, Tumini S, Calabrese G, Stuppia L. Gatta V, et al. Among authors: stuppia l. J Hum Genet. 2007;52(1):21-27. doi: 10.1007/s10038-006-0074-5. Epub 2006 Nov 8. J Hum Genet. 2007. PMID: 17091221

7

Different Strategies for the Identification of SARS-CoV-2 Variants in the Laboratory Practice.

Anaclerio F, Ferrante R, Mandatori D, Antonucci I, Capanna M, Damiani V, Tomo PD, Ferrante R, Ranaudo M, De Laurenzi V, Stuppia L, De Fabritiis S. Anaclerio F, et al. Among authors: stuppia l. Genes (Basel). 2021 Sep 16;12(9):1428. doi: 10.3390/genes12091428. Genes (Basel). 2021. PMID: 34573410 Free PMC article.

8

Identification in chromosome 8q11 of a region of homology with the g1 amplicon of the Y chromosome and functional analysis of the BEYLA gene.

Stuppia L, Gatta V, Scarciolla O, Antonucci I, Morizio E, Calabrese G, Palka G. Stuppia L, et al. Genomics. 2005 Feb;85(2):280-3. doi: 10.1016/j.ygeno.2004.10.015. Genomics. 2005. PMID: 15676287

9

Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA).

Gatta V, Scarciolla O, Gaspari AR, Palka C, De Angelis MV, Di Muzio A, Guanciali-Franchi P, Calabrese G, Uncini A, Stuppia L. Gatta V, et al. Among authors: stuppia l. Hum Genet. 2005 Jun;117(1):92-8. doi: 10.1007/s00439-005-1270-7. Epub 2005 Apr 20. Hum Genet. 2005. PMID: 15841391

10

Comparison between CaGene 5.1 and 6.0 for BRCA1/2 mutation prediction: a retrospective study of 150 BRCA1/2 genetic tests in 517 families with breast/ovarian cancer.

Antonucci I, Provenzano M, Sorino L, Balsamo M, Aceto GM, Battista P, Euhus D, Cianchetti E, Ballerini P, Natoli C, Palka G, Stuppia L. Antonucci I, et al. Among authors: stuppia l. J Hum Genet. 2017 Mar;62(3):379-387. doi: 10.1038/jhg.2016.138. Epub 2016 Dec 8. J Hum Genet. 2017. PMID: 27928164

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