Bagnulo R - Search Results

1

What Have We Learned from Patients Who Have Arboleda-Tham Syndrome Due to a De Novo KAT6A Pathogenic Variant with Impaired Histone Acetyltransferase Function? A Precise Clinical Description May Be Critical for Genetic Testing Approach and Final Diagnosis.

Bukvic N, Chetta M, Bagnulo R, Leotta V, Pantaleo A, Palumbo O, Palumbo P, Oro M, Rivieccio M, Laforgia N, De Rinaldis M, Rosati A, Kerkhof J, Sadikovic B, Resta N. Bukvic N, et al. Among authors: bagnulo r. Genes (Basel). 2023 Jan 7;14(1):165. doi: 10.3390/genes14010165. Genes (Basel). 2023. PMID: 36672906 Free PMC article.

2

A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in Nmd efficiency.

Resta N, Susca FC, Di Giacomo MC, Stella A, Bukvic N, Bagnulo R, Simone C, Guanti G. Resta N, et al. Among authors: bagnulo r. J Cell Physiol. 2006 Oct;209(1):67-73. doi: 10.1002/jcp.20708. J Cell Physiol. 2006. PMID: 16775838

3

SCE frequency measurement could be useful in the prenatal diagnosis of Roberts syndrome.

Bukvic N, Resta N, Bukvic D, Susca FC, Bagnulo R, Fanelli M, Guanti G. Bukvic N, et al. Among authors: bagnulo r. Twin Res Hum Genet. 2007 Aug;10(4):655-7. doi: 10.1375/twin.10.4.655. Twin Res Hum Genet. 2007. PMID: 17708708 Free article.

4

Papillary thyroid carcinoma in Peutz-Jeghers syndrome.

Triggiani V, Guastamacchia E, Renzulli G, Giagulli VA, Tafaro E, Licchelli B, Resta F, Sabbà C, Bagnulo R, Lastella P, Stella A, Resta N. Triggiani V, et al. Among authors: bagnulo r. Thyroid. 2011 Nov;21(11):1273-7. doi: 10.1089/thy.2011.0063. Epub 2011 Aug 30. Thyroid. 2011. PMID: 21877933 Review.

5

Survey of KRAS, BRAF and PIK3CA mutational status in 209 consecutive Italian colorectal cancer patients.

Bozzao C, Varvara D, Piglionica M, Bagnulo R, Forte G, Patruno M, Russo S, Piscitelli D, Stella A, Resta N. Bozzao C, et al. Among authors: bagnulo r. Int J Biol Markers. 2012 Dec 27;27(4):e366-74. doi: 10.5301/JBM.2012.9765. Int J Biol Markers. 2012. PMID: 23125007 Free article.

6

Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors.

Loconte DC, Grossi V, Bozzao C, Forte G, Bagnulo R, Stella A, Lastella P, Cutrone M, Benedicenti F, Susca FC, Patruno M, Varvara D, Germani A, Chessa L, Laforgia N, Tenconi R, Simone C, Resta N. Loconte DC, et al. Among authors: bagnulo r. PLoS One. 2015 Apr 27;10(4):e0123092. doi: 10.1371/journal.pone.0123092. eCollection 2015. PLoS One. 2015. PMID: 25915946 Free PMC article.

7

Association of autoimmune thyroiditis and celiac disease with Juvenile Polyposis due to 10q23.1q23.31 deletion: Potential role of PI3K/Akt pathway dysregulation.

Guaraldi F, Di Nardo G, Tarani L, Bertelli L, Susca FC, Bagnulo R, Resta N. Guaraldi F, et al. Among authors: bagnulo r. Eur J Med Genet. 2017 Jul;60(7):380-384. doi: 10.1016/j.ejmg.2017.04.010. Epub 2017 Apr 18. Eur J Med Genet. 2017. PMID: 28434922 Review.

8

Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1.

Stella A, Lastella P, Loconte DC, Bukvic N, Varvara D, Patruno M, Bagnulo R, Lovaglio R, Bartolomeo N, Serio G, Resta N. Stella A, et al. Among authors: bagnulo r. Genes (Basel). 2018 Apr 17;9(4):216. doi: 10.3390/genes9040216. Genes (Basel). 2018. PMID: 29673180 Free PMC article.

9

The longevity SNP rs2802292 uncovered: HSF1 activates stress-dependent expression of FOXO3 through an intronic enhancer.

Grossi V, Forte G, Sanese P, Peserico A, Tezil T, Lepore Signorile M, Fasano C, Lovaglio R, Bagnulo R, Loconte DC, Susca FC, Resta N, Simone C. Grossi V, et al. Among authors: bagnulo r. Nucleic Acids Res. 2018 Jun 20;46(11):5587-5600. doi: 10.1093/nar/gky331. Nucleic Acids Res. 2018. PMID: 29733381 Free PMC article.

10

Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia.

Leoni C, Onesimo R, Resta N, Patti ML, De Santis R, Bagnulo R, Russo L, Manfredi R, Genuardi M, Zampino G. Leoni C, et al. Among authors: bagnulo r. Clin Genet. 2019 Jul;96(1):102-103. doi: 10.1111/cge.13550. Epub 2019 Apr 22. Clin Genet. 2019. PMID: 31012097

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

41 results

Search Page