-
1
-
-
12244272130
-
Von Willebrand's disease in the year 2003: towards the complete identification of gene defects for correct diagnosis and treatment
-
Castaman G, Federici AB, Rodeghiero F, Mannucci PM. Von Willebrand's disease in the year 2003: towards the complete identification of gene defects for correct diagnosis and treatment. Haematologica 2003; 88: 94-108.
-
(2003)
Haematologica
, vol.88
, pp. 94-108
-
-
Castaman, G.1
Federici, A.B.2
Rodeghiero, F.3
Mannucci, P.M.4
-
2
-
-
77952581903
-
The genetic basis of von Willebrand disease
-
Goodeve AC. The genetic basis of von Willebrand disease. Blood Rev 2010; 24: 124-33.
-
(2010)
Blood Rev
, vol.24
, pp. 124-133
-
-
Goodeve, A.C.1
-
3
-
-
73949125671
-
Premature termination codon mutations in von Willebrand factor gene are associated with allele-specific and position-dependent mRNA decay
-
Platè M, Duga S, Baronciani L, La Marca S, Rubini V, Mannucci PM, Federici AB, Asselta R. Premature termination codon mutations in von Willebrand factor gene are associated with allele-specific and position-dependent mRNA decay. Haematologica 2010; 95: 172-4.
-
(2010)
Haematologica
, vol.95
, pp. 172-174
-
-
Platè, M.1
Duga, S.2
Baronciani, L.3
La Marca, S.4
Rubini, V.5
Mannucci, P.M.6
Federici, A.B.7
Asselta, R.8
-
4
-
-
70449421615
-
Molecular and phenotypic determinants of the response to desmopressin in adult patients with mild hemophilia A
-
Castaman G, Mancuso ME, Giacomelli SH, Tosetto A, Santagostino E, Mannucci PM, Rodeghiero F. Molecular and phenotypic determinants of the response to desmopressin in adult patients with mild hemophilia A. J Thromb Haemost 2009; 7: 1824-31.
-
(2009)
J Thromb Haemost
, vol.7
, pp. 1824-1831
-
-
Castaman, G.1
Mancuso, M.E.2
Giacomelli, S.H.3
Tosetto, A.4
Santagostino, E.5
Mannucci, P.M.6
Rodeghiero, F.7
-
5
-
-
42149120672
-
Detailed von Willebrand factor multimer analysis in patients with von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 von Willebrand disease (MCMDM-1VWD)
-
Budde U, Schneppenheim R, Eikenboom J, Goodeve A, Will K, Drewke E, Castaman G, Rodeghiero F, Federici AB, Batlle J, Pérez A, Meyer D, Mazurier C, Goudemand J, Ingerslev J, Habart D, Vorlova Z, Holmberg L, Lethagen S, Pasi J, et al. Detailed von Willebrand factor multimer analysis in patients with von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 von Willebrand disease (MCMDM-1VWD). J Thromb Haemost 2008; 6: 762-71.
-
(2008)
J Thromb Haemost
, vol.6
, pp. 762-771
-
-
Budde, U.1
Schneppenheim, R.2
Eikenboom, J.3
Goodeve, A.4
Will, K.5
Drewke, E.6
Castaman, G.7
Rodeghiero, F.8
Federici, A.B.9
Batlle, J.10
Pérez, A.11
Meyer, D.12
Mazurier, C.13
Goudemand, J.14
Ingerslev, J.15
Habart, D.16
Vorlova, Z.17
Holmberg, L.18
Lethagen, S.19
Pasi, J.20
more..
-
6
-
-
36048945922
-
ImageJ for microscopy
-
Collins TJ. ImageJ for microscopy. BioTechniques 2007; 43: 25-30.
-
(2007)
BioTechniques
, vol.43
, pp. 25-30
-
-
Collins, T.J.1
-
7
-
-
0034796745
-
Coexistence of a novel homozygous nonsense mutation in exon 13 of the factor V gene with the homozygous Leiden mutation in two unrelated patients with severe factor V deficiency
-
Van Wijk R, Montefusco MC, Duga S, Asselta R, Van Solinge W, Malcovati M, Tenchini ML, Mannucci PM. Coexistence of a novel homozygous nonsense mutation in exon 13 of the factor V gene with the homozygous Leiden mutation in two unrelated patients with severe factor V deficiency. Br J Haematol 2001; 114: 871-4.
-
(2001)
Br J Haematol
, vol.114
, pp. 871-874
-
-
Van Wijk, R.1
Montefusco, M.C.2
Duga, S.3
Asselta, R.4
Van Solinge, W.5
Malcovati, M.6
Tenchini, M.L.7
Mannucci, P.M.8
-
8
-
-
0025355882
-
Analysis of cytokine mRNA and DNA: detection and quantitation by competitive polymerase chain reaction
-
Gilliland G, Perrin S, Blanchard K, Bunn HF. Analysis of cytokine mRNA and DNA: detection and quantitation by competitive polymerase chain reaction. Proc Natl Acad Sci U S A 1990; 87: 2725-9.
-
(1990)
Proc Natl Acad Sci U S A
, vol.87
, pp. 2725-2729
-
-
Gilliland, G.1
Perrin, S.2
Blanchard, K.3
Bunn, H.F.4
-
9
-
-
0035710746
-
Analysis of relative gene expression data using real-time quantitative PCR and the 2-δδCt method
-
Livak KJ, Schmittgen TD. Analysis of relative gene expression data using real-time quantitative PCR and the 2-δδCt method. Methods 2001; 25: 402-8.
-
(2001)
Methods
, vol.25
, pp. 402-408
-
-
Livak, K.J.1
Schmittgen, T.D.2
-
10
-
-
33845350235
-
Combined partial exon skipping and cryptic splice site activation as a new molecular mechanism for recessive type 1 von Willebrand disease
-
Gallinaro L, Sartorello F, Pontara E, Cattini MG, Bertomoro A, Bartoloni L, Pagnan A, Casonato A. Combined partial exon skipping and cryptic splice site activation as a new molecular mechanism for recessive type 1 von Willebrand disease. Thromb Haemost 2006; 96: 711-6.
-
(2006)
Thromb Haemost
, vol.96
, pp. 711-716
-
-
Gallinaro, L.1
Sartorello, F.2
Pontara, E.3
Cattini, M.G.4
Bertomoro, A.5
Bartoloni, L.6
Pagnan, A.7
Casonato, A.8
-
11
-
-
67649651889
-
Autosomal recessive von Willebrand disease type 1 or 2 due to homozygous or compound heterozygous mutations in the von Willebrand factor gene. A single center experience on molecular heterogeneity and laboratory features in 12 families
-
Castaman G, Giacomelli S, Rodeghiero F. Autosomal recessive von Willebrand disease type 1 or 2 due to homozygous or compound heterozygous mutations in the von Willebrand factor gene. A single center experience on molecular heterogeneity and laboratory features in 12 families. Acta Haematol 2009; 121: 106-10.
-
(2009)
Acta Haematol
, vol.121
, pp. 106-110
-
-
Castaman, G.1
Giacomelli, S.2
Rodeghiero, F.3
-
12
-
-
0036166489
-
The factor VIII/von Willebrand factor ratio discriminates between reduced synthesis and increased clearance of von Willebrand factor
-
Eikenboom JC, Castaman G, Kamphuisen PW, Rosendaal FR, Bertina RM. The factor VIII/von Willebrand factor ratio discriminates between reduced synthesis and increased clearance of von Willebrand factor. Thromb Haemost 2002; 87: 252-7.
-
(2002)
Thromb Haemost
, vol.87
, pp. 252-257
-
-
Eikenboom, J.C.1
Castaman, G.2
Kamphuisen, P.W.3
Rosendaal, F.R.4
Bertina, R.M.5
-
13
-
-
33845967766
-
Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD)
-
Goodeve A, Eikenboom J, Castaman G, Rodeghiero F, Federici AB, Batlle J, Meyer D, Mazurier C, Goudemand J, Schneppenheim R, Budde U, Ingerslev J, Habart D, Vorlova Z, Holmberg L, Lethagen S, Pasi J, Hill F, Hashemi Soteh M, Baronciani L, et al. Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD). Blood 2007; 109: 112-21.
-
(2007)
Blood
, vol.109
, pp. 112-121
-
-
Goodeve, A.1
Eikenboom, J.2
Castaman, G.3
Rodeghiero, F.4
Federici, A.B.5
Batlle, J.6
Meyer, D.7
Mazurier, C.8
Goudemand, J.9
Schneppenheim, R.10
Budde, U.11
Ingerslev, J.12
Habart, D.13
Vorlova, Z.14
Holmberg, L.15
Lethagen, S.16
Pasi, J.17
Hill, F.18
Hashemi Soteh, M.19
Baronciani, L.20
more..
-
14
-
-
0034912198
-
von Willebrand disease type 3: clinical manifestations, pathophysiology and molecular biology
-
Eikenboom JC. von Willebrand disease type 3: clinical manifestations, pathophysiology and molecular biology. Best Pract Res Clin Haematol 2001; 14: 365-79.
-
(2001)
Best Pract Res Clin Haematol
, vol.14
, pp. 365-379
-
-
Eikenboom, J.C.1
-
15
-
-
33645837652
-
Homozygous C2362F von Willebrand factor induces intracellular retention of mutant von Willebrand factor resulting in autosomal recessive severe von Willebrand disease
-
Tjernberg P, Castaman G, Vos HL, Bertina RM, Eikenboom JCJ. Homozygous C2362F von Willebrand factor induces intracellular retention of mutant von Willebrand factor resulting in autosomal recessive severe von Willebrand disease. Br J Haematol 2006; 133: 409-18.
-
(2006)
Br J Haematol
, vol.133
, pp. 409-418
-
-
Tjernberg, P.1
Castaman, G.2
Vos, H.L.3
Bertina, R.M.4
Eikenboom, J.C.J.5
-
16
-
-
34547623918
-
Quality control of eukaryotic mRNA: safeguarding cells from abnormal mRNA function
-
Isken O, Maquat LE. Quality control of eukaryotic mRNA: safeguarding cells from abnormal mRNA function. Genes Dev 2007; 21: 1833-56.
-
(2007)
Genes Dev
, vol.21
, pp. 1833-1856
-
-
Isken, O.1
Maquat, L.E.2
-
17
-
-
0034488537
-
A novel two base pair deletion in the factor V gene associated with severe factor V deficiency
-
Montefusco MC, Duga S, Asselta R, Santagostino E, Mancuso G, Malcovati M, Mannucci PM, Tenchini ML. A novel two base pair deletion in the factor V gene associated with severe factor V deficiency. Br J Haematol 2000; 111: 1240-6.
-
(2000)
Br J Haematol
, vol.111
, pp. 1240-1246
-
-
Montefusco, M.C.1
Duga, S.2
Asselta, R.3
Santagostino, E.4
Mancuso, G.5
Malcovati, M.6
Mannucci, P.M.7
Tenchini, M.L.8
-
18
-
-
29144463196
-
A type II mutation(Glu117stop), induction of allele-specific mRNA degradation and factor XI deficiency
-
Soldá G, Asselta R, Ghiotto R, Tenchini ML, Castaman G, Duga S. A type II mutation(Glu117stop), induction of allele-specific mRNA degradation and factor XI deficiency. Haematologica 2005; 90: 1716-8.
-
(2005)
Haematologica
, vol.90
, pp. 1716-1718
-
-
Soldá, G.1
Asselta, R.2
Ghiotto, R.3
Tenchini, M.L.4
Castaman, G.5
Duga, S.6
-
19
-
-
0028233152
-
Deficiency in the A-subunit of coagulation factor XIII: two novel point mutations demonstrate different effects on transcript levels
-
Mikkola H, Syrjälä M, Rasi V, Vahtera E, Hämäläinen E, Peltonen L, Palotie A. Deficiency in the A-subunit of coagulation factor XIII: two novel point mutations demonstrate different effects on transcript levels. Blood 1994; 84: 517-25.
-
(1994)
Blood
, vol.84
, pp. 517-525
-
-
Mikkola, H.1
Syrjälä, M.2
Rasi, V.3
Vahtera, E.4
Hämäläinen, E.5
Peltonen, L.6
Palotie, A.7
-
20
-
-
0035895061
-
Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen A alpha-chain gene are not associated with the decay of the mutant mRNAs
-
Asselta R, Duga S, Spena S, Santagostino E, Peyvandi F, Piseddu G, Targhetta R, Malcovati M, Mannucci PM, Tenchini ML. Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen A alpha-chain gene are not associated with the decay of the mutant mRNAs. Blood 2001; 98: 3685-92.
-
(2001)
Blood
, vol.98
, pp. 3685-3692
-
-
Asselta, R.1
Duga, S.2
Spena, S.3
Santagostino, E.4
Peyvandi, F.5
Piseddu, G.6
Targhetta, R.7
Malcovati, M.8
Mannucci, P.M.9
Tenchini, M.L.10
-
21
-
-
9444229917
-
Expression and analysis of a split premature termination codon in FGG responsible for congenital afibrinogenemia: escape from RNA surveillance mechanisms in transfected cells
-
Neerman-Arbez M, Germanos-Haddad M, Tzanidakis K, Vu D, Deutsch S, David A, Morris MA, De Moerloose P. Expression and analysis of a split premature termination codon in FGG responsible for congenital afibrinogenemia: escape from RNA surveillance mechanisms in transfected cells. Blood 2004; 104: 3618-23.
-
(2004)
Blood
, vol.104
, pp. 3618-3623
-
-
Neerman-Arbez, M.1
Germanos-Haddad, M.2
Tzanidakis, K.3
Vu, D.4
Deutsch, S.5
David, A.6
Morris, M.A.7
De Moerloose, P.8
-
22
-
-
0141707680
-
Analysis of the consequences of premature termination codons within factor VIII coding sequences
-
David D, Santos IM, Johnson K, Tuddenham EG, McVey HL. Analysis of the consequences of premature termination codons within factor VIII coding sequences. J Thromb Haemost 2003; 1: 139-46.
-
(2003)
J Thromb Haemost
, vol.1
, pp. 139-146
-
-
David, D.1
Santos, I.M.2
Johnson, K.3
Tuddenham, E.G.4
McVey, H.L.5
-
23
-
-
0031957351
-
Characterization of the genetic defects in recessive type 1 and type 3 von Willebrand disease patients of Italian origin
-
Eikenboom JC, Castaman G, Vos HL, Bertina RM, Rodeghiero F. Characterization of the genetic defects in recessive type 1 and type 3 von Willebrand disease patients of Italian origin. Thromb Haemost 1998; 79: 709-17.
-
(1998)
Thromb Haemost
, vol.79
, pp. 709-717
-
-
Eikenboom, J.C.1
Castaman, G.2
Vos, H.L.3
Bertina, R.M.4
Rodeghiero, F.5
-
24
-
-
0037087163
-
A novel family with recessive von Willebrand disease due to compound heterozygosity for a splice site mutation and a missense mutation in the von Willebrand factor gene
-
Castaman G, Novella E, Castiglia E, Eikenboom JC, Rodeghiero F. A novel family with recessive von Willebrand disease due to compound heterozygosity for a splice site mutation and a missense mutation in the von Willebrand factor gene. Thromb Res 2002; 105: 135-8.
-
(2002)
Thromb Res
, vol.105
, pp. 135-138
-
-
Castaman, G.1
Novella, E.2
Castiglia, E.3
Eikenboom, J.C.4
Rodeghiero, F.5
-
25
-
-
0034326362
-
Analysis of canonical and non-canonical splice sites in mammalian genomes
-
Burset M, Seledtsov IA, Solovyev VV. Analysis of canonical and non-canonical splice sites in mammalian genomes. Nucleic Acids Res 2000; 28: 4364-75.
-
(2000)
Nucleic Acids Res
, vol.28
, pp. 4364-4375
-
-
Burset, M.1
Seledtsov, I.A.2
Solovyev, V.V.3
|