Results 81 to 90 of about 2,361,484 (180)

Current Knowledge on Inherited Platelet Function Disorders

Clinical Pediatric Hematology-Oncology, 2020
Inherited platelet function disorders (IPFDs) are rare and underdiagnosed in individuals with clinically significant bleeding diathesis. IPFDs are classified according to the causative molecular defects involved in the process of primary hemostasis of ...
Nani Jung, Ye Jee Shim
doaj   +1 more source

Bernard-Soulier syndrome in pregnancy : a case report [PDF]

, 2019
Background: Bernard-Soulier Syndrome (BSS) is a rare autosomal recessively inherited bleeding disorder of platelet function. Pregnancy in BSS is associated with a high risk of serious bleeding for both mother and neonate, and current data show no ...
Oliveira Filho, Cilomar Martins de, Vettorazzi, Janete, Valério, Edimárlei Gonsales, Perez, Amanda Vilaverde, Vettori, Daniela Vanessa, Pazinato, Tássia Cividanes, Amaral, Sheila Nogueira do, Silva, Mariana Sbaraini da, Grossi, Fernanda Santos   +8 more
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Molecular analysis of patients suffering from Bernard-Soulier-Syndrome or Morbus Glanzmann

, 2013
In dieser Dissertation wurden zwei hereditäre Störungen der Thrombozytenaggregation, das Bernard-Soulier-Syndrom und der Morbus Glanzmann, untersucht. Es erfolgte eine molekulargenetische Untersuchung der genomischen DNA bei insgesamt vier Patienten mit ...
Gerisch, Sebastian
core  

Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations

Haematologica, 2011
Background Bernard-Soulier syndrome is a severe bleeding disease due to a defect of GPIb/IX/V, a platelet complex that binds the von Willebrand factor.
Anna Savoia, Annalisa Pastore, Daniela De Rocco, Elisa Civaschi, Mariateresa Di Stazio, Roberta Bottega, Federica Melazzini, Valeria Bozzi, Alessandro Pecci, Silvana Magrin, Carlo L. Balduini, Patrizia Noris   +11 more
doaj   +1 more source

Perioperative management of tonsilloadenoidectomy and circumcision of a patient with Bernard-Soulier syndrome: Case report

, 2014
Bernard-Soulier syndrome is an autosomal recessive coagulopathy characterized by thrombocytopenia, prolonged bleeding time and large platelets. Because of the rarity of this disease, standard perioperative treatment protocols have not been developed and ...
Balcı, Yasemin Işık, Gözkeser, Ersin, Herek, Özkan, Polat, Aziz, Gürses, Merve, Kara, Cüneyt Orhan   +5 more
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Molecular genetic analysis of the DNA of patients with Morbus Glanzmann, Hermansky Pudlak Syndrome and Bernard Soulier Syndrome

, 2009
Die Erkrankungen Morbus Glanzmann, Hermansky Pudlak Syndrom und Bernard Soulier Syndrom sind seltene, autosomal rezessiv vererbte Blutungsstörungen. In dieser Arbeit wurde die DNA von Patienten mit Morbus Glanzmann und Hermansky Pudlak Syndrom mittels ...
Schubart, Christina
core  

Inherited platelet disorders including Glanzmann thrombasthenia and Bernard-Soulier syndrome

, 2013
WOS: 000331900300037PubMed ID: 24319190Inherited platelet disorders (IPDs) are a heterogeneous group of diseases affecting platelet production, morphology, and function.
Diz-Kucukkaya, Reyhan
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Observations de M. P. Soulier

, 1927
Soulier Paul. Observations de M. P. Soulier . In: Bulletin de l'Association de géographes français, N°14, 4e année, mars 1927. pp.
Soulier, Paul
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Publication Only

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients

Haematologica, 2004
BACKGROUND AND OBJECTIVES: The Italian Gruppo di Studio delle Piastrine recently developed a diagnostic algorithm to assist clinicians in the diagnosis of inherited thrombocytopenias.
P Noris, A Pecci, F Di Bari, MT Di Stazio, M Di Pumpo, IF Ceresa, N Arezzi, C Ambaglio, A Savoia, CL Balduini   +9 more
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