Results 21 to 30 of about 1,427 (120)

Obstetric and gynecological intervention in women with Bernard-Soulier syndrome: Report of two cases [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2014
Introduction. Bernard-Soulier syndrome (BSS) is a rare inherited bleeding disorder characterized by giant platelets thrombocytopenia e prolonged bleeding timee frequent hemorrhages with considerable morbidity.
Mitrović Mirjana, Elezović Ivo, Miljić Predrag, Antić Darko   +3 more
doaj   +1 more source

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

Haematologica, 2008
In Italy, a significant proportion of patients with autosomal dominant inheritance of macrothrombocytopenia have been recognized as having heterozygous Bernard-Soulier syndrome carrying the Bolzano-type defect. This condition prompted a systematic review
Silvia Vettore, Raffaella Scandellari, Stefano Moro, Anna Maria Lombardi, Margherita Scapin, Maria Luigia Randi, Fabrizio Fabris   +6 more
doaj   +1 more source

A A386G biallelic GPIbα gene mutation with anomalous behavior: a new mechanism suggested for Bernard-Soulier syndrome pathogenesis

Haematologica, 2011
Platelet glycoprotein GPIbα mutations are the basic defect behind Bernard-Soulier syndrome, a rare inherited macrothrombocytopenia characterized by anomalies of the GPIbα, GPIbβ and GPIX subunits of von Willebrand factor receptor.
Silvia Vettore, Fabiana Tezza, Alessandro Malara, Fabrizio Vianello, Alessandro Pecci, Raffaella Scandellari, Matteo Floris, Alessandra Balduini, Fabrizio Fabris   +8 more
doaj   +1 more source

Two novel variants of uncertain significance in GP9 associated with Bernard–Soulier syndrome: Are they true mutations?

Platelets, 2018
Bernard–Soulier syndrome (BSS) is an autosomal recessive major thrombocytopathy, the symptoms of which are mainly marked by mucocutaneous bleeding.
P. Boisseau, C. Debord, M. Eveillard, A. Quéméner, M. Sigaud, M. Giraud, P. Talarmain, C. Thomas, G. Landeau, S. Bezieau, B. Pan Petesch, M. C. Béné, M. Fouassier   +12 more
doaj   +1 more source

Bernard-Soulier syndrome (Hemorrhagiparous thrombocytic dystrophy)

Orphanet Journal of Rare Diseases, 2006
Bernard-Soulier syndrome (BSS), also known as Hemorrhagiparous thrombocytic dystrophy, is a hereditary bleeding disorder affecting the megakaryocyte/platelet lineage and characterized by bleeding tendency, giant blood platelets and low platelet counts ...
Lanza François
doaj   +1 more source

A novel frameshift GP1BB mutation causes autosomal dominant macrothrombocytopenia with decreased vWF receptor expression but normal platelet aggregation

Platelets, 2022
GP1bβ is a component of the von Willebrand factor (vWF) receptor complex that is necessary for platelet formation and activation. A novel frameshift variant in GP1BB has been identified in a family with macrothrombocytopenia.
Caitlin Dunstan-Harrison, Ian M. Morison, Elizabeth C. Ledgerwood   +2 more
doaj   +1 more source

A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome

Platelets, 2018
Mutations in the GP1BA gene have been associated with platelet-type von Willebrand disease and Bernard-Soulier syndrome. Here, we report a novel GP1BA mutation in a family with autosomal dominant macrothrombocytopenia and mild bleeding.
Jakub Trizuljak, Kateřina Staňo Kozubík, Lenka Radová, Michaela Pešová, Karol Pál, Kamila Réblová, Olga Stehlíková, Petr Smejkal, Jiřina Zavřelová, Milan Pacejka, Jiří Mayer, Šárka Pospíšilová, Michael Doubek   +12 more
doaj   +1 more source

Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation)

Haematologica, 2012
Background Bernard-Soulier syndrome is a very rare form of inherited thrombocytopenia that derives from mutations in GPIbα, GPIbβ, or GPIX and is typically inherited as a recessive disease. However, some years ago it was shown that the monoallelic c.515C>
Patrizia Noris, Silverio Perrotta, Roberta Bottega, Alessandro Pecci, Federica Melazzini, Elisa Civaschi, Sabina Russo, Silvana Magrin, Giuseppe Loffredo, Veronica Di Salvo, Giovanna Russo, Maddalena Casale, Daniela De Rocco, Claudio Grignani, Marco Cattaneo, Carlo Baronci, Alfredo Dragani, Veronica Albano, Momcilo Jankovic, Saverio Scianguetta, Anna Savoia, Carlo L. Balduini   +21 more
doaj   +1 more source

Bernard–Soulier Syndrome (BSS) & tuberculosis: A case report

International Journal of Mycobacteriology, 2014
Background: Bernard–Soulier Syndrome (BSS) is a rare congenital bleeding disorder characterized by thrombocytopenia. BSS causes bruising, epistaxis, gingival bleeding hemorrhage, post-partum bleeding, gastrointestinal bleeding and post-traumatic ...
Maryam Hasanzad
doaj   +1 more source

Smartphone‐Based Teledentistry to Support Clinical Triage and Risk‐Informed Dental Care in Patients With Inherited Bleeding and Haemoglobin Disorders: A Cross‐Sectional Diagnostic Agreement Study

Haemophilia, EarlyView.
ABSTRACT Introduction Patients with inherited bleeding and haemoglobin disorders face barriers to accessing timely dental care, increasing the risk of untreated oral disease and complications related to invasive procedures. Aim To evaluate the agreement between smartphone‐based asynchronous teledentistry and face‐to‐face examination for oral conditions,
Victor Cordeiro da Silva, Carolina Mendes Frusca do Monte, Leandro Tavares da Silva, Gabriela Silva Almeida, Claudia Santos Lorenzato, José Vitor Nogara Borges de Menezes, Fabian Calixto Fraiz, Cassius Carvalho Torres‐Pereira   +7 more
wiley   +1 more source