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Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6.
Am J Hum Genet. 2015 Feb 5;96(2):295-300. doi: 10.1016/j.ajhg.2014.12.011. Epub 2015 Jan 22.
Am J Hum Genet. 2015.
PMID: 25620207
Free PMC article.
Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism.
Dentici ML, Niceta M, Pantaleoni F, Barresi S, Bencivenga P, Dallapiccola B, Digilio MC, Tartaglia M.
Dentici ML, et al. Among authors: bencivenga p.
Am J Med Genet A. 2017 Jul;173(7):1965-1969. doi: 10.1002/ajmg.a.38255. Epub 2017 May 7.
Am J Med Genet A. 2017.
PMID: 28480548
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Analysis of CTNS gene transcripts in nephropathic cystinosis.
Taranta A, Wilmer MJ, van den Heuvel LP, Bencivenga P, Bellomo F, Levtchenko EN, Emma F.
Taranta A, et al. Among authors: bencivenga p.
Pediatr Nephrol. 2010 Jul;25(7):1263-7. doi: 10.1007/s00467-010-1502-5. Epub 2010 Mar 30.
Pediatr Nephrol. 2010.
PMID: 20352457
Free PMC article.
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Mutational spectrum of the CTNS gene in Italy.
Mason S, Pepe G, Dall'Amico R, Tartaglia S, Casciani S, Greco M, Bencivenga P, Murer L, Rizzoni G, Tenconi R, Clementi M.
Mason S, et al. Among authors: bencivenga p.
Eur J Hum Genet. 2003 Jul;11(7):503-8. doi: 10.1038/sj.ejhg.5200993.
Eur J Hum Genet. 2003.
PMID: 12825071
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Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy.
Vanegas OC, Zhang RZ, Sabatelli P, Lattanzi G, Bencivenga P, Giusti B, Columbaro M, Chu ML, Merlini L, Pepe G.
Vanegas OC, et al. Among authors: bencivenga p.
Muscle Nerve. 2002 Apr;25(4):513-9. doi: 10.1002/mus.10100.
Muscle Nerve. 2002.
PMID: 11932968
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Dual IGF1R/IR inhibitors in combination with GD2-CAR T-cells display a potent anti-tumor activity in diffuse midline glioma H3K27M-mutant.
de Billy E, Pellegrino M, Orlando D, Pericoli G, Ferretti R, Businaro P, Ajmone-Cat MA, Rossi S, Petrilli LL, Maestro N, Diomedi-Camassei F, Pezzullo M, De Stefanis C, Bencivenga P, Palma A, Rota R, Del Bufalo F, Massimi L, Weber G, Jones C, Carai A, Caruso S, De Angelis B, Caruana I, Quintarelli C, Mastronuzzi A, Locatelli F, Vinci M.
de Billy E, et al. Among authors: bencivenga p.
Neuro Oncol. 2022 Jul 1;24(7):1150-1163. doi: 10.1093/neuonc/noab300.
Neuro Oncol. 2022.
PMID: 34964902
Free PMC article.
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Rapid detection of nucleophosmin (NPM1) mutations in acute myeloid leukemia by denaturing HPLC.
Ammatuna E, Noguera NI, Zangrilli D, Curzi P, Panetta P, Bencivenga P, Amadori S, Federici G, Lo-Coco F.
Ammatuna E, et al. Among authors: bencivenga p.
Clin Chem. 2005 Nov;51(11):2165-7. doi: 10.1373/clinchem.2005.055707.
Clin Chem. 2005.
PMID: 16244291
No abstract available.
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Integration of Multiple Platforms for the Analysis of Multifluorescent Marking Technology Applied to Pediatric GBM and DIPG.
Pericoli G, Petrini S, Giorda E, Ferretti R, Ajmone-Cat MA, Court W, Conti LA, De Simone R, Bencivenga P, Palma A, Di Giannatale A, Jones C, Carai A, Mastronuzzi A, de Billy E, Locatelli F, Vinci M.
Pericoli G, et al. Among authors: bencivenga p.
Int J Mol Sci. 2020 Sep 15;21(18):6763. doi: 10.3390/ijms21186763.
Int J Mol Sci. 2020.
PMID: 32942636
Free PMC article.
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