Results 11 to 20 of about 1,427 (120)

Increased RhoA pathway activation downstream of αIIbβ3/SRC contributes to heterozygous Bernard Soulier syndrome. [PDF]

Haematologica
Bernard Soulier Syndrome (BSS) is a severe bleeding disorder with moderate to severe thrombocytopenia, giant platelets, and platelet dysfunction, caused by biallelic mutations in GP1BA, GP1BB, or GP9 genes.
Lordier L, Di Buduo CA, Kauskot A, Balayn N, Lavenu-Bombled C, Baschieri F, Proulle V, Oyarzun CPM, Careddu F, Biunno I, Manoliu T, Rameau P, Plo I, Papadopoulos N, Constantinescu S, Vainchenker W, Nguyen GN, Ballerini P, Favier R, Balduini A, Raslova H.   +20 more
europepmc   +2 more sources

Hemostatic rescue with rFVIIa in Bernard-Soulier syndrome refractory to HLA-matched platelet transfusion. [PDF]

Ann Hematol
We report the case of a man in his 50’s diagnosed with Bernard-Soulier syndrome (BSS) in childhood who developed refractory gluteal bleeding following a fall accident.
Okamoto Y, Mizumoto C, Yamashita K, Inoue S, Saito S, Morimoto N, Takaori-Kondo A.   +6 more
europepmc   +2 more sources

From Bernard-Soulier syndrome to sitosterolemia: the role of genetic analysis in bleeding diathesis. [PDF]

Thromb J
Bleeding diathesis’ diagnosis can be challenging due to the high number of disorders with hemorrhagic symptomatology. Sitosterolemia is a rare disease characterized by increased sterols plasma levels and cardiovascular, cutaneous, articular, and ...
Marrero-Cepeda C, García-Donas G, Rodríguez-Martorell FJ, Núñez-Vázquez R, Prats-Martín C, Pérez-Simón JA, Vargas MT.   +6 more
europepmc   +2 more sources

A large deletion in the GP9 gene in Cocker Spaniel dogs with Bernard-Soulier syndrome. [PDF]

PLoS One, 2019
Inherited bleeding disorders including abnormalities of platelet number and function rarely occur in a variety of dog breeds, but are probably underdiagnosed.
Gentilini F, Turba ME, Giancola F, Chiocchetti R, Bernardini C, Dajbychova M, Jagannathan V, Drögemüller M, Drögemüller C.   +8 more
europepmc   +2 more sources

PB2629: LATE DIAGNOSIS OF TWO ADULT SIBLINGS WITH BERNARD SOULIER SYNDROME (BSS) [PDF]

Hemasphere, 2023
Altowyan E, Suarez A, Al-Housni Z, Matino D, Iorio A.   +4 more
europepmc   +2 more sources

Successful management of a retrosternal goiter in a patient with Bernard-Soulier syndrome. [PDF]

Kardiochir Torakochirurgia Pol, 2022
El Hammoumi M, Kabiri EH.
europepmc   +2 more sources

A Case of Bernard-Soulier Syndrome Associated with 22q11.2 Deletion Syndrome

Clinical Pediatric Hematology-Oncology, 2023
22q11.2 deletion syndrome (22q11.2DS) is a disorder caused by microdeletions in the long arm of chromosome 22. It is one of the most common chromosomal microdeletion disorders.
Oh Cheol Kwon, Su Hyun Yoon, Sung Han Kang, Hyery Kim, Kyung-Nam Koh, Ho Joon Im   +5 more
doaj   +1 more source

Bernard–Soulier syndrome and anesthetic management

MRIMS Journal of Health Sciences, 2020
Bernard–Soulier syndrome (BSS) is a rare autosomal recessive disease with bleeding diathesis due to platelet dysfunction secondary to the absence of the von Willebrand factor receptor on the platelet surface called glycoprotein Ib–V–IX.
Manjula Venkatesh Ramsali, Raj Narasingrao Hadigal, P G Koshy, Sirisha Senthil1, P Surender, V Sarada Devi   +5 more
doaj   +1 more source

Establishment of a Bernard-Soulier syndrome model in zebrafish

Haematologica, 2021
Platelets play an essential role in thrombosis and hemostasis. Abnormal hemostasis can cause spontaneous or severe post-traumatic bleeding. Bernard-Soulier syndrome (BSS) is a rare inherited bleeding disorder caused by a complete quantitative deficiency
Qing Lin, Riyang Zhou, Panpan Meng, Liangliang Wu, Lian Yang, Wenyu Liu, Jiaye Wu, Yuhuan Cheng, Linjuan Shi, Yiyue Zhang   +9 more
doaj   +1 more source

Bernard Soulier Syndrome: Presenting As High-grade Fever In A Young Male

Journal of Bahria University Medical and Dental College, 2019
Bernard-Soulier syndrome (BSS) is a rare inherited disorder of blood clotting (coagulation). They may be life-threatening and demand immediate attention.
Syed Parvez Asghar, Rida Ali Asghar, Syed Sajid Abbas Jaffari, Zehra Akhtar, Naveed Siddique   +4 more
doaj   +1 more source