Nigro V - Search Results

1

Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.

Mastromoro G, Santoro C, Motta M, Sorrentino U, Daniele P, Peduto C, Petrizzelli F, Tripodi M, Pinna V, Zanobio M, Rotundo G, Bellacchio E, Lepri F, Farina A, D'Asdia MC, Piceci-Sparascio F, Biagini T, Petracca A, Castori M, Melis D, Accadia M, Traficante G, Tarani L, Fontana P, Sirchia F, Paparella R, Currò A, Benedicenti F, Scala I, Dentici ML, Leoni C, Trevisan V, Cecconi A, Giustini S, Pizzuti A, Salviati L, Novelli A, Zampino G, Zenker M, Genuardi M, Digilio MC, Papi L, Perrotta S, Nigro V, Castellanos E, Mazza T, Trevisson E, Tartaglia M, Piluso G, De Luca A. Mastromoro G, et al. Among authors: nigro v. Genet Med. 2024 Aug 10:101241. doi: 10.1016/j.gim.2024.101241. Online ahead of print. Genet Med. 2024. PMID: 39140257

2

Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review.

Agolini E, Dentici ML, Bellacchio E, Alesi V, Radio FC, Torella A, Musacchia F, Tartaglia M, Dallapiccola B, Nigro V, Digilio MC, Novelli A. Agolini E, et al. Among authors: nigro v. Clin Genet. 2018 Mar;93(3):675-681. doi: 10.1111/cge.13137. Epub 2018 Feb 5. Clin Genet. 2018. PMID: 28902392 Review.

3

A novel MEIS2 mutation explains the complex phenotype in a boy with a typical NF1 microdeletion syndrome.

Santoro C, Riccio S, Palladino F, Aliberti F, Carotenuto M, Zanobio M, Peduto C, Nigro V, Perrotta S, Piluso G. Santoro C, et al. Among authors: nigro v. Eur J Med Genet. 2021 May;64(5):104190. doi: 10.1016/j.ejmg.2021.104190. Epub 2021 Mar 17. Eur J Med Genet. 2021. PMID: 33722742

4

Are SHROOM4 loss-of-function variants pathogenic?

Peduto C, Piluso G, Nigro V, Brunetti-Pierri N. Peduto C, et al. Among authors: nigro v. Am J Med Genet A. 2022 Nov;188(11):3374-3375. doi: 10.1002/ajmg.a.62935. Epub 2022 Aug 16. Am J Med Genet A. 2022. PMID: 36209347 No abstract available.

5

Intermittent macrothrombocytopenia in a novel patient with Takenouchi-Kosaki syndrome and review of literature.

Santoro C, Gaudino G, Torella A, Piluso G, Perrotta S, Miraglia Del Giudice E; Telethon Undiagnosed Diseases Program; Nigro V, Grandone A. Santoro C, et al. Among authors: nigro v. Eur J Med Genet. 2021 Dec;64(12):104358. doi: 10.1016/j.ejmg.2021.104358. Epub 2021 Oct 5. Eur J Med Genet. 2021. PMID: 34624555 Review.

6

Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder.

Cappuccio G, De Bernardi ML, Morlando A, Peduto C, Scala I, Pinelli M, Bellacchio E, Gallo FG, Magli A, Plaitano C, Serrano M, Pías L, Català J, Bolasell M, Torella A, Nigro V, Zanni G, Brunetti-Pierri N. Cappuccio G, et al. Among authors: nigro v. Am J Med Genet A. 2022 Oct;188(10):3032-3040. doi: 10.1002/ajmg.a.62911. Epub 2022 Jul 25. Am J Med Genet A. 2022. PMID: 35876338 Free PMC article.

7

Spectrum of muscular dystrophies associated with sarcolemmal-protein genetic defects.

Nigro V, Piluso G. Nigro V, et al. Biochim Biophys Acta. 2015 Apr;1852(4):585-93. doi: 10.1016/j.bbadis.2014.07.023. Epub 2014 Jul 30. Biochim Biophys Acta. 2015. PMID: 25086336 Free article. Review.

8

Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1.

Santoro C, Maietta A, Giugliano T, Melis D, Perrotta S, Nigro V, Piluso G. Santoro C, et al. Among authors: nigro v. Eur J Hum Genet. 2015 Nov;23(11):1460-1. doi: 10.1038/ejhg.2015.93. Epub 2015 May 13. Eur J Hum Genet. 2015. PMID: 25966637 Free PMC article. No abstract available.

9

UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism.

Giugliano T, Santoro C, Torella A, Del Vecchio Blanco F, Bernardo P, Nigro V, Piluso G. Giugliano T, et al. Among authors: nigro v. Am J Med Genet A. 2018 Mar;176(3):722-726. doi: 10.1002/ajmg.a.38589. Epub 2017 Dec 28. Am J Med Genet A. 2018. PMID: 29283210

10

Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1.

Santoro C, Giugliano T, Kraemer M, Torella A, Schwitalla JC, Cirillo M, Melis D, Berlit P, Nigro V, Perrotta S, Piluso G. Santoro C, et al. Among authors: nigro v. PLoS One. 2018 Jul 12;13(7):e0200446. doi: 10.1371/journal.pone.0200446. eCollection 2018. PLoS One. 2018. PMID: 30001348 Free PMC article.

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

330 results

Search Page