Inherited defects of coagulation factor V: the hemorrhagic side von ASSELTA, R., TENCHINI, M. L., DUGA, S.

Volltext

The molecular basis of quantitative fibrinogen disorders von ASSELTA, R., DUGA, S., TENCHINI, M. L.

Volltext

Autosomal dominant nocturnal frontal lobe epilepsy: A video-polysomnographic and genetic appraisal of 40 patients and delineation of the epileptic syndrome von OLDANI, A, ZUCCONI, M, ASSELTA, R, MODUGNO, M, BONATI, M. T, DALPRA, L, MALCOVATI, M, TENCHINI, M. L, SMIRNE, S, FERINI-STRAMBI, L

Volltext

Missense mutations in the human β fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion von Duga, Stefano, Asselta, Rosanna, Santagostino, Elena, Zeinali, Sirous, Simonic, Tatjana, Malcovati, Massimo, Mannucci, Pier Mannuccio, Tenchini, Maria Luisa

Volltext

The DNA‐pooling technique allowed for the identification of three novel mutations responsible for afibrinogenemia von MONALDINI, L., ASSELTA, R., MALCOVATI, M., TENCHINI, M. L., DUGA, S.

Volltext

Autosomal dominant nocturnal frontal lobe epilepsy. A critical overview von COMBI, Romina, DALPRA, Leda, TENCHINI, Maria Luisa, FERINI-STRAMBI, Luigi

Volltext

Severe factor V deficiency: exon skipping in the factor V gene causing a partial deletion of the C1 domain von Asselta, R., Montefusco, M. C., Duga, S., Malcovati, M., Peyvandi, F., Mannucci, P. M., Tenchini, M. L.

Volltext

Multidrug resistance 1 gene polymorphism and susceptibility to inflammatory bowel disease von Ardizzone, S., Maconi, G., Bianchi, V., Russo, A., Colombo, E., Cassinotti, A., Penati, C., Tenchini, M.L., Bianchi Porro, G.

Volltext

The discovery of Mary's mutation von Asselta, R., Tenchini, M. L., Holme, R., Brosstad, F., Stormorken, H.

Volltext

SER252PHE and 776INS3 mutations in the CHRNA4 gene are rare in the Italian ADNFLE population von TENCHINI, M. L, DUGA, S, BONATI, M. T, ASSELTA, R, OLDANI, A, ZUCCONI, M, MALCOVATI, M, DALPRA, L, FERINI-STRAMBI, L

Volltext

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 von Van Wijk, Richard, Montefusco, Maria Claudia, Duga, Stefano, Asselta, Rosanna, Van Solinge, Wouter, Malcovati, Massimo, Tenchini, Maria Luisa, Mannucci, Pier Mannuccio

Volltext

Characterization of the genomic structure of the human neuronal nicotinic acetylcholine receptor CHRNA5/A3/B4 gene cluster and identification of novel intragenic polymorphisms von Duga, S, Soldà, G, Asselta, R, Bonati, M T, Dalprà, L, Malcovati, M, Tenchini, M L

Volltext

Refined mapping of CHRNA3/A5/B4 gene cluster and its implications in ADNFLE von Bonati, Maria Teresa, Asselta, Rosanna, Duga, Stefano, Ferini-Strambi, Luigi, Oldani, Alessandro, Zucconi, Marco, Malcovati, Massimo, Dalprà, Leda, Tenchini, Maria Luisa

Volltext

Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen Aα-chain gene are not associated with the decay of the mutant mRNAs von Asselta, Rosanna, Duga, Stefano, Spena, Silvia, Santagostino, Elena, Peyvandi, Flora, Piseddu, Gavino, Targhetta, Roberto, Malcovati, Massimo, Mannucci, Pier Mannuccio, Tenchini, Maria Luisa

Volltext

Concerns about the Mutations Identified in a Case of Familial Coagulation Factor V Deficiency: Factor V Stanford von Montefusco, Maria Claudia, Asselta, Rosanna, van Wijk, Richard, Duga, Stefano, Tenchini, Maria Luisa

Volltext

Gene symbol: SCN1A von Combi, R, Grioni, D, Tenchini, M L, Bertolini, M, Tredici, G, Dalpra, L

Volltext

Gene symbol: SCN1A von Combi, R, Grioni, D, Tenchini, M L, Bertolini, M, Tredici, G, Dalpra, L

Volltext

Afibrinogenemia: first identification of a splicing mutation in the fibrinogen gamma chain gene leading to a major gamma chain truncation von Asselta, Rosanna, Duga, Stefano, Simonic, Tatjana, Malcovati, Massimo, Santagostino, Elena, Giangrande, Paul L.F., Mannucci, Pier Mannuccio, Tenchini, Maria Luisa

Volltext

Culture techniques for human keratinocytes von Tenchini, M.L., Ranzati, C., Malcovati, M.

Volltext

Liver histology of an afibrinogenemic patient with the Bβ‐L353R mutation showing no evidence of hepatic endoplasmic reticulum storage disease (ERSD); comparative study in COS‐1 cel... von DUGA, S., BRAIDOTTI, P., ASSELTA, R., MAGGIONI, M., SANTAGOSTINO, E., PELLEGRINI, C., COGGI, G., MALCOVATI, M., TENCHINI, M. L.

Volltext