Novel point mutation in a leucine-rich repeat of the GPIbα chain of the platelet von Willebrand factor receptor, GPIb/IX/V, resulting in an inherited dominant form of Bernard-Soulier syndrome affecting two unrelated families : the N41H variant
VETTORE, Silvia, SCANDELLARI, Raffaella, MORO, Stefano, LOMBARDI, Anna Maria, SCAPIN, Margherita, LUIGIA RANDI, Maria, FABRIS, Fabrizio
Published in Haematologica (Roma) (01.11.2008)
Published in Haematologica (Roma) (01.11.2008)
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Distinct Promoters Determine Alternative Transcription of gpx-4 into Phospholipid-Hydroperoxide Glutathione Peroxidase Variants
Maiorino, Matilde, Scapin, Margherita, Ursini, Fulvio, Biasolo, Mariangela, Bosello, Valentina, Flohé, Leopold
Published in The Journal of biological chemistry (05.09.2003)
Published in The Journal of biological chemistry (05.09.2003)
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Genetic Variations of gpx-4 and Male Infertility in Humans
MAIORINO, Matilde, BOSELLO, Valentina, URSINI, Fulvio, FORESTA, Carlo, GAROLLA, Andrea, SCAPIN, Margherita, SZTAJER, Helena, FLOHE, Leopold
Published in Biology of reproduction (01.04.2003)
Published in Biology of reproduction (01.04.2003)
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JAK2V617F mutation is common in old patients with polycythemia vera and essential thrombocythemia
Randi, Maria Luigia, Ruzzon, Elisabetta, Tezza, Fabiana, Scapin, Margherita, Duner, Elena, Scandellari, Raffaella, Fabris, Fabrizio
Published in Aging clinical and experimental research (01.02.2011)
Published in Aging clinical and experimental research (01.02.2011)
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Haemostatic proteins gene polymorphisms in patients with unusual vein thrombosis and Ph-myeloproliferative disorders
Randi, Maria L, Lombardi, Anna Maria, Scapin, Margherita, Tezza, Fabiana, Scandellari, Raffaella, Ruzzon, Elisabetta, Duner, Elena, Fabris, Fabrizio
Published in Thrombosis and haemostasis (01.09.2007)
Published in Thrombosis and haemostasis (01.09.2007)
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Genetic Variations of gpx-4 and Male Infertility in Humans1
Maiorino, Matilde, Bosello, Valentina, Ursini, Fulvio, Foresta, Carlo, Garolla, Andrea, Scapin, Margherita, Sztajer, Helena, Flohé, Leopold
Published in Biology of reproduction (01.04.2003)
Published in Biology of reproduction (01.04.2003)
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Increased risk of pregnancy complications in patients with essential thrombocythemia carrying the JAK2 (617V>F) mutation
Passamonti, Francesco, Randi, Maria Luigia, Rumi, Elisa, Pungolino, Ester, Elena, Chiara, Pietra, Daniela, Scapin, Margherita, Arcaini, Luca, Tezza, Fabiana, Moratti, Remigio, Pascutto, Cristiana, Fabris, Fabrizio, Morra, Enrica, Cazzola, Mario, Lazzarino, Mario
Published in Blood (15.07.2007)
Published in Blood (15.07.2007)
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Pediatric patients with essential thrombocythemia are mostly polyclonal and V617FJAK2 negative
Randi, Maria Luigia, Putti, Maria Caterina, Scapin, Margherita, Pacquola, Enrica, Tucci, Fabio, Micalizzi, Concetta, Zanesco, Luigi, Fabris, Fabrizio
Published in Blood (15.11.2006)
Published in Blood (15.11.2006)
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Src tyrosine kinase preactivation is associated with platelet hypersensitivity in essential thrombocythemia and polycythemia vera
Randi, Maria Luigia, Brunati, Anna Maria, Scapin, Margherita, Frasson, Martina, Deana, Renzo, Magrin, Elisa, Fabris, Fabrizio, Donella-Deana, Arianna
Published in Blood (21.01.2010)
Published in Blood (21.01.2010)
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Heparin-induced thrombocytopenia in patients with Philadelphia-negative myeloproliferative disorders and unusual splanchnic or cerebral vein thrombosis
Randi, Maria L, Tezza, Fabiana, Scapin, Margherita, Duner, Elena, Scarparo, Pamela, Scandellari, Raffaella, Fabris, Fabrizio
Published in Acta haematologica (01.01.2010)
Published in Acta haematologica (01.01.2010)
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Genetic study in patients with factor XII deficiency: a report of three new mutations exon 13 (Q501STOP), exon 14 (P547L) and -13C>T promoter region in three compound heterozygotes
Lombardi, Anna Maria, Bortoletto, Elisabetta, Scarparo, Pamela, Scapin, Margherita, Santarossa, Liliana, Girolami, Antonio
Published in Blood coagulation & fibrinolysis (01.10.2008)
Published in Blood coagulation & fibrinolysis (01.10.2008)
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The mutant JAK2 allele burden in children with essential thrombocythemia
Teofili, Luciana, Cenci, Tonia, Martini, Maurizio, Capodimonti, Sara, Torti, Lorenza, Giona, Fiorina, Amendola, Angela, Randi, Maria Luigia, Putti, Maria Caterina, Scapin, Margherita, Leone, Giuseppe, Larocca, Luigi Maria
Published in British journal of haematology (01.05.2009)
Published in British journal of haematology (01.05.2009)
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Intriguing outcome of JAK2V617F mutation seen in a patient with MYH9-related hereditary macrothrombocytopenia
Fabris, Fabrizio, Scandellari, Raffaella, Vettore, Silvia, Scapin, Margherita, Bizzaro, Nicola, Randi, Maria L
Published in Thrombosis and haemostasis (01.10.2010)
Published in Thrombosis and haemostasis (01.10.2010)
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The mutant JAK2V617F allele burden in children with essential thrombocythemia
Teofili, Luciana, Cenci, Tonia, Martini, Maurizio, Capodimonti, Sara, Torti, Lorenza, Giona, Fiorina, Amendola, Angela, Randi, Maria Luigia, Putti, Maria Caterina, Scapin, Margherita, Leone, Giuseppe, Larocca, Luigi Maria
Published in British journal of haematology (01.05.2009)
Published in British journal of haematology (01.05.2009)
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The mutant JAK2 V617F allele burden in children with essential thrombocythemia
Teofili, Luciana, Cenci, Tonia, Martini, Maurizio, Capodimonti, Sara, Torti, Lorenza, Giona, Fiorina, Amendola, Angela, Randi, Maria Luigia, Putti, Maria Caterina, Scapin, Margherita, Leone, Giuseppe, Larocca, Luigi Maria
Published in British journal of haematology (01.05.2009)
Published in British journal of haematology (01.05.2009)
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A case of Bernard-Soulier Syndrome due to a homozygous four bases deletion (TGAG) of GPIbα gene: Lack of GPIbα but absence of bleeding
Vettore, Silvia, Scandellari, Raffaella, Scapin, Margherita, Lombardi, Anna Maria, Duner, Elena, Randi, Maria Luigia, Fabris, Fabrizio
Published in Platelets (Edinburgh) (01.01.2008)
Published in Platelets (Edinburgh) (01.01.2008)
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Retrospective Evaluation of 90 Children with Essential Thrombocytemia: The AIEOP Experience
Putti, Maria Caterina, Giona, Fiorina, Consarino, Caterina, Fiori, Gian Mario, Giordano, Paola, Ladogana, Saverio, Jankovic, Momcilo, Micalizzi, Concetta, Pession, Andrea, Pierani, Paolo, Ramenghi, Ugo, Scapin, Margherita, Teofili, Luciana, Tucci, Fabio, Tettoni, Katia, Zanazzo, Andrea Giulio, Randi, Maria Luigia
Published in Blood (16.11.2008)
Published in Blood (16.11.2008)
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