COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage
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DOI: 10.1002/pd.6113
Abstract: 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. Fetal neonatal alloimmune thrombocytopenia is a major… read more here.
Keywords: gene variants; col4a1 col4a2; inherited platelet; col4a2 ... See more keywords
Novel approaches for diagnosing inherited platelet disorders.
Sign Up to like & getrecommendations! Published in 2017 at "Medicina Clinica"
DOI: 10.1016/j.medcle.2016.09.033
Abstract: Abstract Inherited platelet disorders diagnosis is based on the clinical history and bleeding assessment tools. The laboratory functional assays as well as the molecular test to identify the pathogenic genetic variant are essential to confirm… read more here.
Keywords: diagnosing inherited; novel approaches; inherited platelet; approaches diagnosing ... See more keywords
Screening and diagnosis of inherited platelet disorders.
Sign Up to like & getrecommendations! Published in 2022 at "Critical reviews in clinical laboratory sciences"
DOI: 10.1080/10408363.2022.2049199
Abstract: Inherited platelet disorders are important conditions that often manifest with bleeding. These disorders have heterogeneous underlying pathologies. Some are syndromic disorders with non-blood phenotypic features, and others are associated with an increased predisposition to developing… read more here.
Keywords: platelet disorders; inherited platelet; platelet function; screening diagnosis ... See more keywords
Recent advances in inherited platelet disorders.
Sign Up to like & getrecommendations! Published in 2019 at "Current Opinion in Hematology"
DOI: 10.1097/moh.0000000000000525
Abstract: PURPOSE OF REVIEW The increasing use of high throughput sequencing and genomic analysis has facilitated the discovery of new causes of inherited platelet disorders. Studies of these disorders and their respective mouse models have been… read more here.
Keywords: inherited platelet; advances inherited; platelet disorders; recent advances ... See more keywords
Inherited platelet disorders: From new variants to new knowledge
Sign Up to like & getrecommendations! Published in 2022 at "British Journal of Haematology"
DOI: 10.1111/bjh.18074
Abstract: In this issue of the British Journal of Haematology, Kawankar et al. report the results of a study where highthroughput exome sequencing and genomic bioinformatics analysis identified patients homozygous for two known and six novel… read more here.
Keywords: rasgrp2; inherited platelet; platelet disorders; patients homozygous ... See more keywords
Menstrual and obstetrical bleeding in women with inherited platelet receptor defects—A systematic review
Sign Up to like & getrecommendations! Published in 2020 at "Haemophilia"
DOI: 10.1111/hae.13927
Abstract: Women with inherited platelet receptor defects (IPRD) may have an increased risk of heavy menstrual bleeding (HMB) and postpartum haemorrhage (PPH). read more here.
Keywords: receptor defects; inherited platelet; women inherited; platelet receptor ... See more keywords
Expert opinion on the use of platelet secretion assay for the diagnosis of inherited platelet function disorders: Communication from the ISTH SSC Subcommittee on Platelet Physiology
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Thrombosis and Haemostasis"
DOI: 10.1111/jth.15781
Abstract: Assessment of platelet secretion is crucial for diagnosing suspected inherited platelet function disorders (IPFD). A previous survey of the SSC on Platelet Physiology of the ISTH and a comprehensive review highlighted that most of the… read more here.
Keywords: physiology; inherited platelet; platelet secretion; platelet ... See more keywords
Simplifying the diagnosis of inherited platelet disorders? The new tools do not make it any easier.
Sign Up to like & getrecommendations! Published in 2019 at "Blood"
DOI: 10.1182/blood-2019-01-852350
Abstract: The molecular causes of many inherited platelet disorders are being unraveled. Next-generation sequencing facilitates diagnosis in 30% to 50% of patients. However, interpretation of genetic variants is challenging and requires careful evaluation in the context… read more here.
Keywords: diagnosis inherited; simplifying diagnosis; inherited platelet; platelet disorders ... See more keywords
High-throughput sequencing for rapid diagnosis of inherited platelet disorders: a case for a European consensus
Sign Up to like & getrecommendations! Published in 2018 at "Haematologica"
DOI: 10.3324/haematol.2017.182295
Abstract: The diagnosis of bleeding disorders caused by inherited defects of platelet function or production (or combinations of both) forms an intrinsic part of the work of every hematological laboratory.[1][1] The classic procedure for the work-up… read more here.
Keywords: diagnosis; inherited platelet; platelet disorders; throughput sequencing ... See more keywords
“CHildren with Inherited Platelet disorders Surveillance” (CHIPS) retrospective and prospective observational cohort study by Italian Association of Pediatric Hematology and Oncology (AIEOP)
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2022.967417
Abstract: Abstract Background Inherited thrombocytopenias (ITs) are rare congenital bleeding disorders characterized by different clinical expression and variable prognosis. ITs are poorly known by clinicians and often misdiagnosed with most common forms of thrombocytopenia. Material and… read more here.
Keywords: oncology; children inherited; inherited platelet; hematology ... See more keywords
Inherited Platelet Disorders: An Updated Overview
Sign Up to like & getrecommendations! Published in 2021 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms22094521
Abstract: Platelets play a major role in hemostasis as ppwell as in many other physiological and pathological processes. Accordingly, production of about 1011 platelet per day as well as appropriate survival and functions are life essential… read more here.
Keywords: disorders updated; diagnosis; inherited platelet; platelet disorders ... See more keywords