Bukvic N - Search Results

1

Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.

Mussa A, Leoni C, Iacoviello M, Carli D, Ranieri C, Pantaleo A, Buonuomo PS, Bagnulo R, Ferrero GB, Bartuli A, Melis D, Maitz S, Loconte DC, Turchiano A, Piglionica M, De Luisi A, Susca FC, Bukvic N, Forleo C, Selicorni A, Zampino G, Onesimo R, Cappuccio G, Garavelli L, Novelli C, Memo L, Morando C, Della Monica M, Accadia M, Capurso M, Piscopo C, Cereda A, Di Giacomo MC, Saletti V, Spinelli AM, Lastella P, Tenconi R, Dvorakova V, Irvine AD, Resta N. Mussa A, et al. Among authors: bukvic n. J Med Genet. 2023 Feb;60(2):163-173. doi: 10.1136/jmedgenet-2021-108093. Epub 2022 Mar 7. J Med Genet. 2023. PMID: 35256403

2

An unusual dicentric Y chromosome with a functional centromere with no detectable alpha-satellite.

Bukvic N, Susca F, Gentile M, Tangari E, Ianniruberto A, Guanti G. Bukvic N, et al. Hum Genet. 1996 Apr;97(4):453-6. doi: 10.1007/BF02267065. Hum Genet. 1996. PMID: 8834241

3

17-alpha-ethinylestradiol and norgestrel in combination induce micronucleus increases and aneuploidy in human lymphocyte and fibroblast cultures.

Bukvic N, Susca F, Bukvic D, Fanelli M, Guanti G. Bukvic N, et al. Among authors: bukvic d. Teratog Carcinog Mutagen. 2000;20(3):147-59. doi: 10.1002/(sici)1520-6866(2000)20:3<147::aid-tcm6>3.0.co;2-t. Teratog Carcinog Mutagen. 2000. PMID: 10820425

4

Duplication of 9 p11.2-p13.1: a benign cytogenetic variant.

Di Giacomo MC, Cesarano C, Bukvic N, Manisali E, Guanti G, Susca F. Di Giacomo MC, et al. Among authors: bukvic n. Prenat Diagn. 2004 Aug;24(8):619-22. doi: 10.1002/pd.931. Prenat Diagn. 2004. PMID: 15305349

5

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: bukvic n. J Cell Physiol. 2006 Oct;209(1):67-73. doi: 10.1002/jcp.20708. J Cell Physiol. 2006. PMID: 16775838

6

Trisomy 13 mosaicism in a phenotypically normal child: description of cytogenetic and clinical findings from early pregnancy beyond 2 years of age.

Di Giacomo MC, Susca FC, Resta N, Bukvic N, Vimercati A, Guanti G. Di Giacomo MC, et al. Among authors: bukvic n. Am J Med Genet A. 2007 Mar 1;143A(5):518-20. doi: 10.1002/ajmg.a.31515. Am J Med Genet A. 2007. PMID: 17163529 No abstract available.

7

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: bukvic d. 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.

8

Influence of some detoxification enzyme polymorphisms on cytogenetic biomarkers between individuals exposed to very low doses of 1,3-butadiene.

Bukvic N, Lovreglio P, Fanelli M, Susca FC, Ballini A, Lastella P, Foà V, Fustinoni S, Soleo L, Guanti G. Bukvic N, et al. J Occup Environ Med. 2009 Jul;51(7):811-21. doi: 10.1097/JOM.0b013e3181a88d7f. J Occup Environ Med. 2009. PMID: 19528831

9

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: bukvic n. Genes (Basel). 2018 Apr 17;9(4):216. doi: 10.3390/genes9040216. Genes (Basel). 2018. PMID: 29673180 Free PMC article.

10

The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate.

Leone MP, Palumbo P, Palumbo O, Di Muro E, Chetta M, Laforgia N, Resta N, Stella A, Castellana S, Mazza T, Castori M, Carella M, Bukvic N. Leone MP, et al. Among authors: bukvic n. Ital J Pediatr. 2020 May 27;46(1):74. doi: 10.1186/s13052-020-00839-y. Ital J Pediatr. 2020. PMID: 32460883 Free PMC article.

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