Acquaviva F - Search Results

1

First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation.

Acquaviva F, Sana ME, Della Monica M, Pinelli M, Postorivo D, Fontana P, Falco MT, Nardone AM, Lonardo F, Iascone M, Scarano G. Acquaviva F, et al. Am J Med Genet A. 2017 Jan;173(1):231-238. doi: 10.1002/ajmg.a.37989. Epub 2016 Sep 28. Am J Med Genet A. 2017. PMID: 27683195 Review.

2

Beta2-adrenergic receptor and UCP3 variants modulate the relationship between age and type 2 diabetes mellitus.

Pinelli M, Giacchetti M, Acquaviva F, Cocozza S, Donnarumma G, Lapice E, Riccardi G, Romano G, Vaccaro O, Monticelli A. Pinelli M, et al. Among authors: acquaviva f. BMC Med Genet. 2006 Dec 6;7:85. doi: 10.1186/1471-2350-7-85. BMC Med Genet. 2006. PMID: 17150099 Free PMC article.

3

DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients.

Castaldo I, Pinelli M, Monticelli A, Acquaviva F, Giacchetti M, Filla A, Sacchetti S, Keller S, Avvedimento VE, Chiariotti L, Cocozza S. Castaldo I, et al. Among authors: acquaviva f. J Med Genet. 2008 Dec;45(12):808-12. doi: 10.1136/jmg.2008.058594. Epub 2008 Aug 12. J Med Genet. 2008. PMID: 18697824

4

Science, art, and mistery in the statues and in the anatomical machines of the prince of sansevero: the masterpieces of the "Sansevero Chapel".

Della Monica M, Galzerano D, Di Michele S, Acquaviva F, Gregorio G, Lonardo F, Sguazzo F, Scarano F, Lama D, Scarano G. Della Monica M, et al. Among authors: acquaviva f. Am J Med Genet A. 2013 Nov;161A(11):2920-9. doi: 10.1002/ajmg.a.36258. Epub 2013 Oct 3. Am J Med Genet A. 2013. PMID: 24124101

5

Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation.

Lonardo F, Di Natale P, Lualdi S, Acquaviva F, Cuoco C, Scarano F, Maioli M, Pavone LM, Di Gregorio G, Filocamo M, Scarano G. Lonardo F, et al. Among authors: acquaviva f. Am J Med Genet A. 2014 Oct;164A(10):2627-32. doi: 10.1002/ajmg.a.36667. Epub 2014 Jul 8. Am J Med Genet A. 2014. PMID: 25044788

6

SNORD116 deletions cause Prader-Willi syndrome with a mild phenotype and macrocephaly.

Fontana P, Grasso M, Acquaviva F, Gennaro E, Galli ML, Falco M, Scarano F, Scarano G, Lonardo F. Fontana P, et al. Among authors: acquaviva f. Clin Genet. 2017 Oct;92(4):440-443. doi: 10.1111/cge.13005. Epub 2017 Mar 30. Clin Genet. 2017. PMID: 28266014

7

Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: Lumping or splitting?

Lonardo F, Lonardo MS, Acquaviva F, Della Monica M, Scarano F, Scarano G. Lonardo F, et al. Among authors: acquaviva f. Clin Genet. 2019 Feb;95(2):253-261. doi: 10.1111/cge.13127. Epub 2018 Jan 25. Clin Genet. 2019. PMID: 28857140 Review.

8

Small 4p16.3 deletions: Three additional patients and review of the literature.

Bernardini L, Radio FC, Acquaviva F, Gorgone C, Postorivo D, Torres B, Alesi V, Magliozzi M, Lonardo F, Monica MD, Nardone AM, Cesario C, Mattina T, Scarano G, Dallapiccola B, Digilio MC, Novelli A. Bernardini L, et al. Among authors: acquaviva f. Am J Med Genet A. 2018 Nov;176(11):2501-2508. doi: 10.1002/ajmg.a.40512. Epub 2018 Sep 23. Am J Med Genet A. 2018. PMID: 30244530 Review.

9

Recombinant human erythropoietin increases frataxin protein expression without increasing mRNA expression.

Acquaviva F, Castaldo I, Filla A, Giacchetti M, Marmolino D, Monticelli A, Pinelli M, Saccà F, Cocozza S. Acquaviva F, et al. Cerebellum. 2008;7(3):360-5. doi: 10.1007/s12311-008-0036-x. Cerebellum. 2008. PMID: 18581197

10

PPAR-gamma agonist Azelaoyl PAF increases frataxin protein and mRNA expression: new implications for the Friedreich's ataxia therapy.

Marmolino D, Acquaviva F, Pinelli M, Monticelli A, Castaldo I, Filla A, Cocozza S. Marmolino D, et al. Among authors: acquaviva f. Cerebellum. 2009 Jun;8(2):98-103. doi: 10.1007/s12311-008-0087-z. Epub 2008 Dec 23. Cerebellum. 2009. PMID: 19104905

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