Results 1 to 10 of about 3,348,298 (337)

COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage. [PDF]

Prenat Diagn, 2022
Variants of COL4A1/COL4A2 genes have been reported in fetal intracranial hemorrhage (ICH) cases but their prevalence and characteristics have not been established in a large series of fetuses.
Coste T, Vincent-Delorme C, Stichelbout M, Devisme L, Gelot A, Deryabin I, Pelluard F, Aloui C, Leutenegger AL, Jouannic JM, Héron D, Gould DB, Tournier-Lasserve E.   +12 more
europepmc   +2 more sources

Natural history study of patients with familial platelet disorder with associated myeloid malignancy.

Blood, 2023
Deleterious germline RUNX1 variants cause the autosomal dominant disease familial platelet disorder with associated myeloid malignancy (FPDMM), characterized by thrombocytopenia, platelet functional defects and predisposition to hematologic malignancies (
Cunningham L, Merguerian M, Calvo KR, Davis J, Deuitch NT, Dulau-Florea A, Patel N, Yu K, Sacco K, Bhattacharya S, Passi M, Ozkaya N, De Leon S, Chong S, Craft K, Diemer J, Bresciani E, O'Brien K, Andrews EJ, Park N, Hathaway L, Cowen EW, Heller T, Ryan K, Barochia A, Nghiem K, Niemela J, Rosenzweig S, Young DJ, Frischmeyer-Guerrerio PA, Braylan R, Liu PP.   +31 more
europepmc   +2 more sources

Restoring RUNX1 deficiency in RUNX1 familial platelet disorder by inhibiting its degradation. [PDF]

Blood Adv, 2021
RUNX1 familial platelet disorder (RUNX1-FPD) is an autosomal dominant disorder caused by a monoallelic mutation of RUNX1, initially resulting in approximately half-normal RUNX1 activity.
Krutein MC, Hart MR, Anderson DJ, Jeffery J, Kotini AG, Dai J, Chien S, DelPriore M, Borst S, Maguire JA, French DL, Gadue P, Papapetrou EP, Keel SB, Becker PS, Horwitz MS.   +15 more
europepmc   +2 more sources

Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation Panel. [PDF]

Blood Adv, 2021
Accurate and consistent sequence variant interpretation is critical to the correct diagnosis and appropriate clinical management and counseling of patients with inherited genetic disorders. To minimize discrepancies in variant curation and classification
Ross JE, Zhang BM, Lee K, Mohan S, Branchford BR, Bray P, Dugan SN, Freson K, Heller PG, Kahr WHA, Lambert MP, Luchtman-Jones L, Luo M, Perez Botero J, Rondina MT, Ryan G, Westbury S, Bergmeier W, Di Paola J.   +18 more
europepmc   +2 more sources

Thrombin generation abnormalities in Quebec platelet disorder. [PDF]

Int J Lab Hematol, 2020
Calibrated automated thrombograms (CAT) with platelet‐poor (PPP) and platelet‐rich plasma (PRP) have provided useful insights on bleeding disorders. We used CAT to assess thrombin generation (TG) in Quebec platelet disorder (QPD)—a bleeding disorder ...
Brunet JG, Sharma T, Tasneem S, Liang M, Wilson MD, Rivard GE, Hayward CPM.   +6 more
europepmc   +2 more sources

Medich Giant Platelet Syndrome: An Evolving Qualitative and Quantitative Platelet Disorder [PDF]

Hematology Reports, 2022
Qualitative platelet disorders remain rare and varied. We describe here 2 additional patients with giant platelets, thrombocytopenia, deficiency in alpha granules and the presence of membranous inclusions within the cytoplasm.
Gita Massey, Laura Tyrrell, Yaser Diab, William T. Gunning   +3 more
doaj   +2 more sources

Enhancer-gene rewiring in the pathogenesis of Quebec platelet disorder.

Blood, 2020
Quebec Platelet Disorder (QPD) is an autosomal dominant bleeding disorder with a unique, platelet-dependent gain-of-function defect in fibrinolysis, without systemic fibrinolysis.
Liang M, Soomro A, Tasneem S, Abatti LE, Alizada A, Yuan X, Uusküla-Reimand L, Antounians L, Alvi SA, Paterson AD, Rivard GÉ, Scott IC, Mitchell JA, Hayward CPM, Wilson MD.   +14 more
europepmc   +2 more sources

MPN/MDS OVERLAP SYNDROME ANTICIPATED BY A SEVERE BLEEDING DIATHESIS: HYPOTHESIS OF A PRE-EXISTING PLATELET DISORDER [PDF]

Mediterranean Journal of Hematology and Infectious Diseases
We report the case of a patient with a conclusive diagnosis of “MDS/MPN” Overlap Syndrome preceded by platelet disorder and hemorrhagic phenotype. We want to induce a reflection about diagnosis of oncohematological disorders in patient with a documented
Paola Ranalli, Stefano Baldoni, Daniela Bruno, Mauro Di Ianni   +3 more
doaj   +2 more sources

Quebec platelet disorder [PDF]

Expert Review of Hematology, 2011
Quebec platelet disorder (QPD) is an autosomal dominant bleeding disorder associated with a unique gain-of-function defect in fibrinolysis. In the past 5 years, there have been important advances in the understanding of the pathogenesis of QPD, including its genetic cause, which is a copy number variation mutation of PLAU, the gene for urokinase ...
Catherine P.M. Hayward, Georges E. Rivard   +1 more
openaire   +4 more sources

Inherited platelet disorders [PDF]

Haemophilia, 2012
Summary. Inherited diseases of the megakaryocyte lineage give rise to bleeding when platelets fail to fulfill their hemostatic function upon vessel injury. Platelet defects extend from the absence or malfunctioning of adhesion (GPIb‐IX‐V, Bernard–Soulier syndrome) or aggregation receptors (integrin αIIbβ3, Glanzmann thrombasthenia) to defects of ...
Kathleen Freson, Uri Seligsohn, Alan T. Nurden   +2 more
  +8 more sources