Pesquisa | Biblioteca Virtual em Saúde

1.

Bernard-Soulier Syndrome from the Perspective of the Obstetrician: A Case Report with a Review of the Literature.

Saridogan, Erdinç; Onat, Taylan; Arda Düz, Senem; Tuncay, Görkem; Abdurahmanova, Nuray; Orujova, Lumayat; Karaer, Abdullah.

Z Geburtshilfe Neonatol ; 227(3): 168-178, 2023 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-36889343

2.

Biological, clinical features and modelling of heterozygous variants of glycoprotein Ib platelet subunit alpha (GP1BA) and glycoprotein Ib platelet subunit beta (GP1BB) genes responsible for constitutional thrombocytopenia.

Dib, Fatema; Quéméner, Agnès; Bayart, Sophie; Boisseau, Pierre; Babuty, Antoine; Trossaërt, Marc; Sigaud, Marianne; Ternisien, Catherine; Drillaud, Nicolas; Eveillard, Marion; Guillet, Benoit; Béné, Marie C; Fouassier, Marc.

Br J Haematol ; 199(5): 744-753, 2022 12.

Artigo em Inglês | MEDLINE | ID: mdl-36173017

3.

Establishment of a Bernard-Soulier syndrome model in zebrafish.

Lin, Qing; Zhou, Riyang; Meng, Panpan; Wu, Liangliang; Yang, Lian; Liu, Wenyu; Wu, Jiaye; Cheng, Yuhuan; Shi, Linjuan; Zhang, Yiyue.

Haematologica ; 107(7): 1655-1668, 2022 07 01.

Artigo em Inglês | MEDLINE | ID: mdl-34407604

4.

Iron deficiency anemia and bleeding management in pediatric patients with Bernard-Soulier syndrome and Glanzmann Thrombasthenia: A single-institution analysis.

Lee, Annika; Maier, Cheryl L; Batsuli, Glaivy.

Haemophilia ; 28(4): 633-641, 2022 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-35412688

5.

Murine models of glycoprotein Ib-IX.

Ware, Jerry.

Platelets ; 33(6): 811-816, 2022 Aug 18.

Artigo em Inglês | MEDLINE | ID: mdl-35417661

6.

A GP1BA Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome.

Skalníková, Magdalena; Stano Kozubík, Katerina; Trizuljak, Jakub; Vrzalová, Zuzana; Radová, Lenka; Réblová, Kamila; Holbová, Radka; Kurucová, Terézia; Svozilová, Hana; Stika, Jirí; Blaháková, Ivona; Dvorácková, Barbara; Prudková, Marie; Stehlíková, Olga; Smída, Michal; Kren, Leos; Smejkal, Petr; Pospísilová, Sárka; Doubek, Michael.

Int J Mol Sci ; 23(2)2022 Jan 14.

Artigo em Inglês | MEDLINE | ID: mdl-35055070

7.

Platelet features allow to differentiate immune thrombocytopenia from inherited thrombocytopenia.

Bonnard, Guillaume; Babuty, Antoine; Collot, Romain; Costes, Domitille; Drillaud, Nicolas; Eveillard, Marion; Néel, Antoine; Espitia, Alexandra; Masseau, Agathe; Wahbi, Anaïs; Hamidou, Mohamed; Béné, Marie C; Fouassier, Marc.

Ann Hematol ; 100(11): 2677-2682, 2021 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-34519886

8.

A Novel Mutation in GP1BB Reveals the Role of the Cytoplasmic Domain of GPIbß in the Pathophysiology of Bernard-Soulier Syndrome and GPIb-IX Complex Assembly.

Barozzi, Serena; Bozzi, Valeria; De Rocco, Daniela; Giangregorio, Tania; Noris, Patrizia; Savoia, Anna; Pecci, Alessandro.

Int J Mol Sci ; 22(19)2021 Sep 22.

Artigo em Inglês | MEDLINE | ID: mdl-34638529

9.

GPIbα is required for platelet-mediated hepatic thrombopoietin generation.

Xu, Miao; Li, June; Neves, Miguel Antonio Dias; Zhu, Guangheng; Carrim, Naadiya; Yu, Ruoying; Gupta, Sahil; Marshall, John; Rotstein, Ori; Peng, Jun; Hou, Ming; Kunishima, Shinji; Ware, Jerry; Branch, Donald R; Lazarus, Alan H; Ruggeri, Zaverio M; Freedman, John; Ni, Heyu.

Blood ; 132(6): 622-634, 2018 08 09.

Artigo em Inglês | MEDLINE | ID: mdl-29794068

10.

Inherited thrombocytopenias: history, advances and perspectives.

Nurden, Alan T; Nurden, Paquita.

Haematologica ; 105(8): 2004-2019, 2020 08.

Artigo em Inglês | MEDLINE | ID: mdl-32527953

11.

Glycophorin A-based exclusion of red blood cells for flow cytometric analysis of platelet glycoprotein expression in citrated whole blood.

Berens, Christina; Oldenburg, Johannes; Pötzsch, Bernd; Müller, Jens.

Clin Chem Lab Med ; 58(12): 2081-2087, 2020 06 29.

Artigo em Inglês | MEDLINE | ID: mdl-32598296

12.

A Case of Bernard-Soulier Syndrome due to a Novel Homozygous Missense Mutation in an Exon of the GP1BA Gene.

Li, Xingchuan; Wang, Song; Wu, Jiusi; Wang, Haidong; Wang, Jing; Dong, Xiangyu; Zhang, Ni.

Acta Haematol ; 143(1): 60-64, 2020.

Artigo em Inglês | MEDLINE | ID: mdl-31302646

13.

Nontraumatic Orbital Subperiosteal Hematoma in a Case of Bernard-Soulier Syndrome With Bilateral Pansinusitis.

Ali, Abdullah A; Alsafran, Hend E; Alomairah, Hamad A; Almazdi, Abdulaziz A; Behbehani ABopth, Raed S.

Ophthalmic Plast Reconstr Surg ; 35(6): e134-e136, 2019.

Artigo em Inglês | MEDLINE | ID: mdl-31593047

14.

How we treat the platelet glycoprotein defects; Glanzmann thrombasthenia and Bernard Soulier syndrome in children and adults.

Grainger, John D; Thachil, Jecko; Will, Andrew M.

Br J Haematol ; 182(5): 621-632, 2018 09.

Artigo em Inglês | MEDLINE | ID: mdl-30117143

15.

Alloimmunization in Congenital Deficiencies of Platelet Surface Glycoproteins: Focus on Glanzmann's Thrombasthenia and Bernard-Soulier's Syndrome.

Poon, Man-Chiu; d'Oiron, Roseline.

Semin Thromb Hemost ; 44(6): 604-614, 2018 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-29879742

16.

GP1BB c.179C > T is the most frequent cause of monoallelic Bernard-Soulier syndrome in the Italian population after the Bolzano variant: a report of two new families.

Barozzi, Serena; Pecci, Alessandro; Marinoni, Maddalena; Fontana, Giorgia; Zanchetta, Melania Eva; Noris, Patrizia; Savoia, Anna; Faleschini, Michela.

Ann Hematol ; 102(3): 677-679, 2023 03.

Artigo em Inglês | MEDLINE | ID: mdl-36539614

17.

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

Boisseau, P; Debord, C; Eveillard, M; Quéméner, A; Sigaud, M; Giraud, M; Talarmain, P; Thomas, C; Landeau, G; Bezieau, S; Petesch, B Pan; Béné, M C; Fouassier, M.

Platelets ; 29(3): 316-318, 2018 May.

Artigo em Inglês | MEDLINE | ID: mdl-29119855

18.

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

Trizuljak, Jakub; Kozubík, Katerina Stano; Radová, Lenka; Pesová, Michaela; Pál, Karol; Réblová, Kamila; Stehlíková, Olga; Smejkal, Petr; Zavrelová, Jirina; Pacejka, Milan; Mayer, Jirí; Pospísilová, Sárka; Doubek, Michael.

Platelets ; 29(8): 827-833, 2018 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-30332551

19.

Perioperative Management of a Patient With Combined Bernard Soulier syndrome and Storage Pool Disease During On-Pump Cardiac Surgery.

Christophel-Plathier, Emeline; Costanza, Mariangela; Kirsch, Matthias; Dulguerov, Filip; Chapuis-Bernasconi, Catherine; Bisig, Bettina; Verdy, François; Mendes, Vitor; Rancati, Valentina; Alberio, Lorenzo; Marcucci, Carlo; Scala, Emmanuelle.

J Cardiothorac Vasc Anesth ; 37(1): 90-95, 2023 01.

Artigo em Inglês | MEDLINE | ID: mdl-36266157

20.

Patients with Bernard-Soulier syndrome and different severity of the bleeding phenotype.

Boeckelmann, D; Hengartner, H; Greinacher, A; Nowak-Göttl, U; Sachs, U J; Peter, K; Sandrock-Lang, K; Zieger, B.

Blood Cells Mol Dis ; 67: 69-74, 2017 09.

Artigo em Inglês | MEDLINE | ID: mdl-28131619

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