Pinotti M - Search Results

1

F9 missense mutations impairing factor IX activation are associated with pleiotropic plasma phenotypes.

Branchini A, Morfini M, Lunghi B, Belvini D, Radossi P, Bury L, Serino ML, Giordano P, Cultrera D, Molinari AC, Napolitano M, Bigagli E, Castaman G, Pinotti M, Bernardi F; GePKHIS Study Group of AICE. Branchini A, et al. Among authors: pinotti m. J Thromb Haemost. 2022 Jan;20(1):69-81. doi: 10.1111/jth.15552. Epub 2021 Oct 24. J Thromb Haemost. 2022. PMID: 34626083 Free PMC article.

2

Detection of two missense mutations and characterization of a repeat polymorphism in the factor VII gene (F7).

Marchetti G, Patracchini P, Gemmati D, DeRosa V, Pinotti M, Rodorigo G, Casonato A, Girolami A, Bernardi F. Marchetti G, et al. Among authors: pinotti m. Hum Genet. 1992 Jul;89(5):497-502. doi: 10.1007/BF00219173. Hum Genet. 1992. PMID: 1634227

3

PCR detection of a repeat polymorphism within the F7 gene.

Marchetti G, Gemmati D, Patracchini P, Pinotti M, Bernardi F. Marchetti G, et al. Among authors: pinotti m. Nucleic Acids Res. 1991 Aug 25;19(16):4570. doi: 10.1093/nar/19.16.4570-a. Nucleic Acids Res. 1991. PMID: 1886792 Free PMC article.

4

Protein S mRNA in patients with protein S deficiency.

Sacchi E, Pinotti M, Marchetti G, Merati G, Tagliabue L, Mannucci PM, Bernardi F. Sacchi E, et al. Among authors: pinotti m. Thromb Haemost. 1995 May;73(5):746-9. Thromb Haemost. 1995. PMID: 7482397

5

Molecular bases of CRM+ factor X deficiency: a frequent mutation (Ser334Pro) in the catalytic domain and a substitution (Glu102Lys) in the second EGF-like domain.

Marchetti G, Castaman G, Pinotti M, Lunghi B, Di Iasio MG, Ruggieri M, Rodeghiero F, Bernardi F. Marchetti G, et al. Among authors: pinotti m. Br J Haematol. 1995 Aug;90(4):910-5. doi: 10.1111/j.1365-2141.1995.tb05214.x. Br J Haematol. 1995. PMID: 7669671

6

Topologically equivalent mutations causing dysfunctional coagulation factors VII (294Ala-->Val) and X (334Ser-->Pro).

Bernardi F, Castaman G, Redaelli R, Pinotti M, Lunghi B, Rodeghiero F, Marchetti G. Bernardi F, et al. Among authors: pinotti m. Hum Mol Genet. 1994 Jul;3(7):1175-7. doi: 10.1093/hmg/3.7.1175. Hum Mol Genet. 1994. PMID: 7981691 No abstract available.

7

Molecular defects in CRM+ factor VII deficiencies: modelling of missense mutations in the catalytic domain of FVII.

Bernardi F, Liney DL, Patracchini P, Gemmati D, Legnani C, Arcieri P, Pinotti M, Redaelli R, Ballerini G, Pemberton S, et al. Bernardi F, et al. Among authors: pinotti m. Br J Haematol. 1994 Mar;86(3):610-8. doi: 10.1111/j.1365-2141.1994.tb04793.x. Br J Haematol. 1994. PMID: 8043443

8

Detection of new polymorphic markers in the factor V gene: association with factor V levels in plasma.

Lunghi B, Iacoviello L, Gemmati D, Dilasio MG, Castoldi E, Pinotti M, Castaman G, Redaelli R, Mariani G, Marchetti G, Bernardi F. Lunghi B, et al. Among authors: pinotti m. Thromb Haemost. 1996 Jan;75(1):45-8. Thromb Haemost. 1996. PMID: 8713778

9

Mutation pattern in clinically asymptomatic coagulation factor VII deficiency.

Bernardi F, Castaman G, Pinotti M, Ferraresi P, Di Iasio MG, Lunghi B, Rodeghiero F, Marchetti G. Bernardi F, et al. Among authors: pinotti m. Hum Mutat. 1996;8(2):108-15. doi: 10.1002/(SICI)1098-1004(1996)8:2<108::AID-HUMU2>3.0.CO;2-7. Hum Mutat. 1996. PMID: 8844208

10

Molecular and clinical aspects of factor VII deficiency.

Mariani G, Lo Coco L, Bernardi F, Pinotti M. Mariani G, et al. Among authors: pinotti m. Blood Coagul Fibrinolysis. 1998 Mar;9 Suppl 1:S83-8. Blood Coagul Fibrinolysis. 1998. PMID: 9819034

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