Marini M - Search Results

1

Glomerulocystic kidney disease in a family.

Gusmano R, Caridi G, Marini M, Perfumo F, Ghiggeri GM, Piaggio G, Ceccherini I, Seri M. Gusmano R, et al. Among authors: marini m. Nephrol Dial Transplant. 2002 May;17(5):813-8. doi: 10.1093/ndt/17.5.813. Nephrol Dial Transplant. 2002. PMID: 11981068

2

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. Int J Mol Med. 2006 May;17(5):729-36. Int J Mol Med. 2006. PMID: 16596254

3

Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variability.

Marini M, Cusano R, De Biasio P, Caroli F, Lerone M, Silengo M, Ravazzolo R, Seri M, Camera G. Marini M, et al. Am J Med Genet A. 2003 Mar 1;117A(2):112-5. doi: 10.1002/ajmg.a.10163. Am J Med Genet A. 2003. PMID: 12567406

4

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. Int J Mol Med. 2003 Jul;12(1):79-82. Int J Mol Med. 2003. PMID: 12792813

5

Interaction of the LMX1B and PAX2 gene products suggests possible molecular basis of differential phenotypes in Nail-Patella syndrome.

Marini M, Giacopelli F, Seri M, Ravazzolo R. Marini M, et al. Eur J Hum Genet. 2005 Jun;13(6):789-92. doi: 10.1038/sj.ejhg.5201405. Eur J Hum Genet. 2005. PMID: 15785774

6

A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents.

Marini M, Bocciardi R, Gimelli S, Di Duca M, Divizia MT, Baban A, Gaspar H, Mammi I, Garavelli L, Cerone R, Emma F, Bedeschi MF, Tenconi R, Sensi A, Salmaggi A, Bengala M, Mari F, Colussi G, Szczaluba K, Antonarakis SE, Seri M, Lerone M, Ravazzolo R. Marini M, et al. Genet Med. 2010 Jul;12(7):431-9. doi: 10.1097/GIM.0b013e3181e21afa. Genet Med. 2010. PMID: 20531206 Free article.

7

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: marini m. Pathogenetics. 2008 Dec 1;1(1):5. doi: 10.1186/1755-8417-1-5. Pathogenetics. 2008. PMID: 19046415 Free PMC article.

8

Identification of LMX1B gene point mutations in italian patients affected with Nail-Patella syndrome.

Seri M, Melchionda S, Dreyer S, Marini M, Carella M, Cusano R, Piemontese MR, Caroli F, Silengo M, Zelante L, Romeo G, Ravazzolo R, Gasparini P, Lee B. Seri M, et al. Among authors: marini m. Int J Mol Med. 1999 Sep;4(3):285-90. doi: 10.3892/ijmm.4.3.285. Int J Mol Med. 1999. PMID: 10425280

9

Meier-Gorlin syndrome (ear-patella-short stature syndrome) in an Italian patient: clinical evaluation and analysis of possible candidate genes.

Cohen A, Mulas R, Seri M, Gaiero A, Fichera G, Marini M, Baffico M, Camera G. Cohen A, et al. Among authors: marini m. Am J Med Genet. 2002 Jan 1;107(1):48-51. doi: 10.1002/ajmg.10083. Am J Med Genet. 2002. PMID: 11807867

10

Nail-patella syndrome and renal involvement. Description of three cases and literature review.

Granata A, Nori G, Ravazzolo R, Marini M, Castellino S, Sicurezza E, Fiore CE, Mignani R. Granata A, et al. Among authors: marini m. Clin Nephrol. 2008 May;69(5):377-82. doi: 10.5414/cnp69377. Clin Nephrol. 2008. PMID: 18538102 Review.

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