Results 131 to 140 of about 47,577 (253)

Advanced Molecular Analysis in Hemophilia A in a Single Step: Next Generation Sequencing (NGS) and Copy Number Variation (CNV) Analysis

open access: yesInternational Journal of Laboratory Hematology, EarlyView.
ABSTRACT Background Hemophilia A, an X‐linked bleeding disorder caused by pathogenic variants in the F8 gene, requires precise genetic diagnosis for optimal management. Conventional stepwise sequence and copy number variation (CNV) analyses are time‐consuming and may leave some cases unresolved.
Enise Avci Durmusalioglu   +13 more
wiley   +1 more source

How I Investigate Bleeding Disorders of Unknown Cause: Current Diagnostic Pathways and Gaps in Laboratory Investigation

open access: yesInternational Journal of Laboratory Hematology, EarlyView.
ABSTRACT Bleeding disorder of unknown cause (BDUC) constitutes the largest group of patients presenting with a mild‐to‐moderate bleeding tendency in tertiary care settings. Their clinical bleeding phenotype is characterized by mucocutaneous bleeding, as well as bleeding following surgical challenges or childbirth, and is associated with impaired health‐
Dino Mehic   +3 more
wiley   +1 more source

VWF [PDF]

open access: yes, 2019
openaire   +1 more source

Testing for Non‐Severe Heritable Platelet Function Disorders

open access: yesInternational Journal of Laboratory Hematology, EarlyView.
ABSTRACT Heritable platelet function disorders (HPFD) are a diverse group of bleeding disorders characterised by a primary qualitative defect in platelet function rather than platelet number. HPFD may be broadly categorised according to the severity of bleeding, with Glanzmann thrombasthenia and Bernard Soulier syndrome classically considered severe ...
Kate Burley   +3 more
wiley   +1 more source

Comparing clinical manifestations, treatment strategies and outcomes of Staphylococcus lugdunensis bacteraemia versus Staphylococcus aureus bacteraemia – a retrospective cohort study

open access: yesInternal Medicine Journal, EarlyView.
Abstract Background Staphylococcus lugdunensis is a coagulase‐negative Staphylococcus that has been increasingly recognised as a significant pathogen capable of causing invasive infections similar to Staphylococcus aureus. Data comparing the clinical manifestations and outcomes of S. lugdunensis bacteraemia to S. aureus bacteraemia remain limited. This
Gemma Webb   +5 more
wiley   +1 more source

SlMED25‐SlPHR3‐SlSPX2 module fine‐tunes SlPHR3‐mediated transcriptional activation of phosphate starvation response in tomato

open access: yesJournal of Integrative Plant Biology, EarlyView.
The Mediator subunit SlMED25 and the co‐repressor SlSPX2 competitively bind the N‐terminal domain of the phosphate starvation response transcription factor SlPHR3 in tomato to form a sensitive molecular switch, which dynamically modulates phosphate starvation responses and maintains phosphate homeostasis, offering valuable targets for breeding low ...
Mingtong Zhai   +10 more
wiley   +1 more source

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