Parini R - Search Results

1

Maternal chromosome 7 hetero/isodisomy in Silver-Russell syndrome and PEG1 biallelic expression.

Russo S, Bedeschi MF, Cogliati F, Natacci F, Gianotti A, Parini R, Selicorni A, Larizza L. Russo S, et al. Among authors: parini r. Clin Dysmorphol. 2000 Jul;9(3):157-62. doi: 10.1097/00019605-200009030-00001. Clin Dysmorphol. 2000. PMID: 10955473

2

Spherophakia associated with molybdenum cofactor deficiency.

Parini R, Briscioli V, Caruso U, Dorche C, Fortuna R, Minniti G, Selicorni A, Vismara E, Mancini G. Parini R, et al. Am J Med Genet. 1997 Dec 19;73(3):272-5. doi: 10.1002/(sici)1096-8628(19971219)73:3<272::aid-ajmg8>3.0.co;2-u. Am J Med Genet. 1997. PMID: 9415683

3

Long-term outcome of a cohort of Italian patients affected with alpha-Mannosidosis.

Bertolini A, Rigoldi M, Cianflone A, Mariani R, Piperno A, Canonico F, Cefalo G, Carubbi F, Simonati A, Urban ML, Beccari T, Parini R. Bertolini A, et al. Among authors: parini r. Clin Dysmorphol. 2024 Jan 1;33(1):1-8. doi: 10.1097/MCD.0000000000000474. Epub 2023 Nov 23. Clin Dysmorphol. 2024. PMID: 37791705 Free PMC article.

4

Infantile sialic acid storage disease: serial ultrasound and magnetic resonance imaging features.

Parazzini C, Arena S, Marchetti L, Menni F, Filocamo M, Verheijen FW, Mancini GM, Triulzi F, Parini R. Parazzini C, et al. Among authors: parini r. AJNR Am J Neuroradiol. 2003 Mar;24(3):398-400. AJNR Am J Neuroradiol. 2003. PMID: 12637289 Free PMC article. No abstract available.

5

Severe neonatal onset of glycogenosis type IV: clinical and laboratory findings leading to diagnosis in two siblings.

Giuffrè B, Parini R, Rizzuti T, Morandi L, van Diggelen OP, Bruno C, Giuffrè M, Corsello G, Mosca F. Giuffrè B, et al. Among authors: parini r. J Inherit Metab Dis. 2004;27(5):609-19. doi: 10.1023/b:boli.0000042980.45692.bb. J Inherit Metab Dis. 2004. PMID: 15669676

6

Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.

Iacobazzi V, Invernizzi F, Baratta S, Pons R, Chung W, Garavaglia B, Dionisi-Vici C, Ribes A, Parini R, Huertas MD, Roldan S, Lauria G, Palmieri F, Taroni F. Iacobazzi V, et al. Among authors: parini r. Hum Mutat. 2004 Oct;24(4):312-20. doi: 10.1002/humu.20085. Hum Mutat. 2004. PMID: 15365988

7

Water apparent diffusion coefficient and T2 changes in the acute stage of maple syrup urine disease: evidence of intramyelinic and vasogenic-interstitial edema.

Righini A, Ramenghi LA, Parini R, Triulzi F, Mosca F. Righini A, et al. Among authors: parini r. J Neuroimaging. 2003 Apr;13(2):162-5. J Neuroimaging. 2003. PMID: 12722501

8

[Fabry disease in Italy: first epidemiologic and collaborative study].

Ricci R, Castorina M, Di Lillo M, Antuzzi D, Frustaci A, Parini R, Menni F, Furlan F, Burlina A, Burlina A, Catuogno S, Gabrielli O, Burattini I, Borsini W, Buchner S, Ferriozzi S, Spisni C, De Vito R, Di Rocco M, Aricò M, Pistone G, Bongiorno AM, Morrone A, Cavicchi C, Zammarchi E. Ricci R, et al. Among authors: parini r. Ann Ital Med Int. 2004 Oct-Dec;19(4):269-75. Ann Ital Med Int. 2004. PMID: 15678707 Italian.

9

Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts.

Lualdi S, Pittis MG, Regis S, Parini R, Allegri AE, Furlan F, Bembi B, Filocamo M. Lualdi S, et al. Among authors: parini r. J Mol Med (Berl). 2006 Aug;84(8):692-700. doi: 10.1007/s00109-006-0057-1. Epub 2006 May 13. J Mol Med (Berl). 2006. PMID: 16699754

10

Combined liver-kidney transplantation in glycogen storage disease Ia: a case beyond the guidelines.

Belingheri M, Ghio L, Sala A, Menni F, Trespidi L, Ferraresso M, Berardinelli L, Rossi G, Edefonti A, Parini R. Belingheri M, et al. Among authors: parini r. Liver Transpl. 2007 May;13(5):762-4. doi: 10.1002/lt.21147. Liver Transpl. 2007. PMID: 17457869 Free article.

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