Ravazzolo R - Search Results

1

Seri M, Pecci A, Di Bari F, Cusano R, Savino M, Panza E, Nigro A, Noris P, Gangarossa S, Rocca B, Gresele P, Bizzaro N, Malatesta P, Koivisto PA, Longo I, Musso R, Pecoraro C, Iolascon A, Magrini U, Rodriguez Soriano J, Renieri A, Ghiggeri GM, Ravazzolo R, Balduini CL, Savoia A. Seri M, et al. Among authors: ravazzolo r. Medicine (Baltimore). 2003 May;82(3):203-15. doi: 10.1097/01.md.0000076006.64510.5c. Medicine (Baltimore). 2003. PMID: 12792306 Free article.

2

Genetics, clinical and pathological features of glomerulonephritis associated with mutations of nonmuscle myosin IIA (Fechtner syndrome).

Ghiggeri GM, Caridi G, Magrini U, Sessa A, Savoia A, Seri M, Pecci A, Romagnoli R, Gangarossa S, Noris P, Sartore S, Necchi V, Ravazzolo R, Balduini CL. Ghiggeri GM, et al. Among authors: ravazzolo r. Am J Kidney Dis. 2003 Jan;41(1):95-104. doi: 10.1053/ajkd.2003.50028. Am J Kidney Dis. 2003. PMID: 12500226

3

Non-muscle myosin heavy chain IIA and IIB interact and co-localize in living cells: relevance for MYH9-related disease.

Marini M, Bruschi M, Pecci A, Romagnoli R, Musante L, Candiano G, Ghiggeri GM, Balduini C, Seri M, Ravazzolo R. Marini M, et al. Among authors: ravazzolo r. Int J Mol Med. 2006 May;17(5):729-36. Int J Mol Med. 2006. PMID: 16596254

4

Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene.

Seri M, Savino M, Bordo D, Cusano R, Rocca B, Meloni I, Di Bari F, Koivisto PA, Bolognesi M, Ghiggeri GM, Landolfi R, Balduini CL, Zelante L, Ravazzolo R, Renieri A, Savoia A. Seri M, et al. Among authors: ravazzolo r. Hum Genet. 2002 Feb;110(2):182-6. doi: 10.1007/s00439-001-0659-1. Epub 2001 Dec 14. Hum Genet. 2002. PMID: 11935325

5

Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.

Seri M, Cusano R, Gangarossa S, Caridi G, Bordo D, Lo Nigro C, Ghiggeri GM, Ravazzolo R, Savino M, Del Vecchio M, d'Apolito M, Iolascon A, Zelante LL, Savoia A, Balduini CL, Noris P, Magrini U, Belletti S, Heath KE, Babcock M, Glucksman MJ, Aliprandis E, Bizzaro N, Desnick RJ, Martignetti JA. Seri M, et al. Among authors: ravazzolo r. Nat Genet. 2000 Sep;26(1):103-5. doi: 10.1038/79063. Nat Genet. 2000. PMID: 10973259

6

Localisation of the gene responsible for fechtner syndrome in a region <600 Kb on 22q11-q13.

Cusano R, Gangarossa S, Forabosco P, Caridi G, Ghiggeri GM, Russo G, Iolascon A, Ravazzolo R, Seri M. Cusano R, et al. Among authors: ravazzolo r. Eur J Hum Genet. 2000 Nov;8(11):895-9. doi: 10.1038/sj.ejhg.5200533. Eur J Hum Genet. 2000. PMID: 11093280

7

HOX11L1: a promoter study to evaluate possible expression defects in intestinal motility disorders.

Fava M, Borghini S, Cinti R, Cusano R, Seri M, Lerone M, De Giorgio R, Stanghellini V, Martucciello G, Ravazzolo R, Ceccherini I. Fava M, et al. Among authors: ravazzolo r. Int J Mol Med. 2002 Jul;10(1):101-6. Int J Mol Med. 2002. PMID: 12060859

8

Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome.

Marini M, Bongers EM, Cusano R, Di Duca M, Seri M, Knoers NV, Ravazzolo R. Marini M, et al. Among authors: ravazzolo r. Int J Mol Med. 2003 Jul;12(1):79-82. Int J Mol Med. 2003. PMID: 12792813

9

Transfection of the mutant MYH9 cDNA reproduces the most typical cellular phenotype of MYH9-related disease in different cell lines.

Panza E, Marini M, Pecci A, Giacopelli F, Bozzi V, Seri M, Balduini C, Ravazzolo R. Panza E, et al. Among authors: ravazzolo r. Pathogenetics. 2008 Dec 1;1(1):5. doi: 10.1186/1755-8417-1-5. Pathogenetics. 2008. PMID: 19046415 Free PMC article.

10

The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q31.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomalies.

Panza E, Gimelli G, Passalacqua M, Cohen A, Gimelli S, Giglio S, Ghezzi C, Sparatore B, Heye B, Zuffardi O, Rugarli E, Meitinger T, Romeo G, Ravazzolo R, Seri M. Panza E, et al. Among authors: ravazzolo r. Int J Mol Med. 2007 Mar;19(3):429-35. Int J Mol Med. 2007. PMID: 17273791

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