Novara F - Search Results

1

MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.

Tonduti D, Vanderver A, Berardinelli A, Schmidt JL, Collins CD, Novara F, Genni AD, Mita A, Triulzi F, Brunstrom-Hernandez JE, Zuffardi O, Balottin U, Orcesi S. Tonduti D, et al. Among authors: novara f. J Child Neurol. 2013 Jun;28(6):795-800. doi: 10.1177/0883073812450944. Epub 2012 Jul 17. J Child Neurol. 2013. PMID: 22805248 Free PMC article.

2

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion.

Cardoso C, Boys A, Parrini E, Mignon-Ravix C, McMahon JM, Khantane S, Bertini E, Pallesi E, Missirian C, Zuffardi O, Novara F, Villard L, Giglio S, Chabrol B, Slater HR, Moncla A, Scheffer IE, Guerrini R. Cardoso C, et al. Among authors: novara f. Neurology. 2009 Mar 3;72(9):784-92. doi: 10.1212/01.wnl.0000336339.08878.2d. Epub 2008 Dec 10. Neurology. 2009. PMID: 19073947

3

Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy.

Mei D, Marini C, Novara F, Bernardina BD, Granata T, Fontana E, Parrini E, Ferrari AR, Murgia A, Zuffardi O, Guerrini R. Mei D, et al. Among authors: novara f. Epilepsia. 2010 Apr;51(4):647-54. doi: 10.1111/j.1528-1167.2009.02308.x. Epub 2009 Sep 22. Epilepsia. 2010. PMID: 19780792 Free article.

4

Refining the phenotype associated with MEF2C haploinsufficiency.

Novara F, Beri S, Giorda R, Ortibus E, Nageshappa S, Darra F, Dalla Bernardina B, Zuffardi O, Van Esch H. Novara F, et al. Clin Genet. 2010 Nov;78(5):471-7. doi: 10.1111/j.1399-0004.2010.01413.x. Clin Genet. 2010. PMID: 20412115

5

Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions.

Bonaglia MC, Marelli S, Novara F, Commodaro S, Borgatti R, Minardo G, Memo L, Mangold E, Beri S, Zucca C, Brambilla D, Molteni M, Giorda R, Weber RG, Zuffardi O. Bonaglia MC, et al. Among authors: novara f. Eur J Hum Genet. 2010 Dec;18(12):1302-9. doi: 10.1038/ejhg.2010.115. Epub 2010 Jul 21. Eur J Hum Genet. 2010. PMID: 20648052 Free PMC article.

6

CD5(-) diffuse large B-cell lymphoma with peculiar cyclin D1+ phenotype. Pathologic and molecular characterization of a single case.

Lucioni M, Novara F, Riboni R, Fiandrino G, Nicola M, Kindl S, Boveri E, Jemos V, Arcaini L, Zuffardi O, Paulli M. Lucioni M, et al. Among authors: novara f. Hum Pathol. 2011 Aug;42(8):1204-8. doi: 10.1016/j.humpath.2010.11.015. Epub 2011 Feb 21. Hum Pathol. 2011. PMID: 21334716

7

Cell-cycle phases and genetic profile of bone marrow-derived mesenchymal stromal cells expanded in vitro from healthy donors.

Achille V, Mantelli M, Arrigo G, Novara F, Avanzini MA, Bernardo ME, Zuffardi O, Barosi G, Zecca M, Maccario R. Achille V, et al. Among authors: novara f. J Cell Biochem. 2011 Jul;112(7):1817-21. doi: 10.1002/jcb.23100. J Cell Biochem. 2011. PMID: 21400572

8

A wide methodological approach to identify a large duplication in CFTR gene in a CF patient uncharacterised by sequencing analysis.

Costantino L, Rusconi D, Claut L, Colombo C, Novara F, Paracchini V, Porcaro L, Capasso P, Zuffardi O, Seia M. Costantino L, et al. Among authors: novara f. J Cyst Fibros. 2011 Dec;10(6):412-7. doi: 10.1016/j.jcf.2011.06.007. J Cyst Fibros. 2011. PMID: 21852204 Free article.

9

The strange case of the lost NRAS mutation in a child with juvenile myelomonocytic leukemia.

De Filippi P, Zecca M, Novara F, Lisini D, Maserati E, Pasquali F, Rosti V, Carlo-Stella C, Zavras N, Cagioni C, Zuffardi O, Pagliara D, Danesino C, Locatelli F. De Filippi P, et al. Among authors: novara f. Pediatr Blood Cancer. 2012 Sep;59(3):580-2. doi: 10.1002/pbc.23401. Epub 2011 Dec 19. Pediatr Blood Cancer. 2012. PMID: 22183880

10

Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion.

Cellini E, Disciglio V, Novara F, Barkovich JA, Mencarelli MA, Hayek J, Renieri A, Zuffardi O, Guerrini R. Cellini E, et al. Among authors: novara f. Am J Med Genet A. 2012 Jul;158A(7):1793-7. doi: 10.1002/ajmg.a.35416. Epub 2012 Jun 7. Am J Med Genet A. 2012. PMID: 22678982 No abstract available.

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