Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
Sign Up to like & getrecommendations! Published in 2017 at "Nature genetics"
DOI: 10.1038/ng.3970
Abstract: Congenital heart disease (CHD) is the leading cause of mortality from birth defects. Here, exome sequencing of a single cohort of 2,871 CHD probands, including 2,645 parent–offspring trios, implicated rare inherited mutations in 1.8%, including… read more here.
Keywords: heart disease; disease; rare inherited; chd ... See more keywords
The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease
Sign Up to like & getrecommendations! Published in 2017 at "Current Medical Research and Opinion"
DOI: 10.1080/03007995.2017.1294054
Abstract: Abstract Background: Niemann-Pick disease type C (NP-C) is a rare, inherited neurodegenerative disease of impaired intracellular lipid trafficking. Clinical symptoms are highly heterogeneous, including neurological, visceral, or psychiatric manifestations. The incidence of NP-C is under-estimated… read more here.
Keywords: early onset; clinical niches; disease; rare inherited ... See more keywords
Building the foundation for a community-generated national research blueprint for inherited bleeding disorders: research priorities for ultra-rare inherited bleeding disorders
Sign Up to like & getrecommendations! Published in 2023 at "Expert Review of Hematology"
DOI: 10.1080/17474086.2023.2175661
Abstract: ABSTRACT Background Ultra-rare inherited bleeding disorders (BDs) present important challenges for generating a strong evidence foundation for optimal diagnosis and management. Without disorder-appropriate treatment, affected individuals potentially face life-threatening bleeding, delayed diagnosis, suboptimal management of… read more here.
Keywords: rare inherited; inherited bleeding; ultra rare; bleeding disorders ... See more keywords
Management of rare inherited bleeding disorders: Proposals of the French Reference Centre on Haemophilia and Rare Coagulation Disorders
Sign Up to like & getrecommendations! Published in 2023 at "European Journal of Haematology"
DOI: 10.1111/ejh.13941
Abstract: The rare coagulation disorders may present significant difficulties in diagnosis and management. In addition, considerable inter‐individual variation in bleeding phenotype is observed amongst affected individuals, making the bleeding risk difficult to assess in affected individuals.… read more here.
Keywords: rare inherited; inherited bleeding; rare coagulation; management ... See more keywords
Rare inherited coagulation and fibrinolytic defects that challenge diagnostic laboratories.
Sign Up to like & getrecommendations! Published in 2023 at "International journal of laboratory hematology"
DOI: 10.1111/ijlh.14084
Abstract: Coagulation factors, anticoagulants, and fibrinolytic proteins are important for hemostasis, and mutations affecting these proteins causes some rare inherited bleeding disorders that are particularly challenging to diagnose. read more here.
Keywords: rare inherited; defects challenge; coagulation; fibrinolytic defects ... See more keywords
Towards an External Quality Assessment for Next Generation Sequencing in the Diagnosis of Rare Inherited Anaemias
Sign Up to like & getrecommendations! Published in 2018 at "Blood"
DOI: 10.1182/blood-2018-99-111609
Abstract: The diagnosis of patients with inherited anemias is increasingly made in conjunction with high-throughput 'next-generation' sequencing (NGS) analysis, largely using targeted resequencing panels validated for clinical use in diagnostic labs. While there is a joint… read more here.
Keywords: quality; inherited anaemias; rare inherited; next generation ... See more keywords
Real-time national survey of COVID-19 in hemoglobinopathy and rare inherited anemia patients
Sign Up to like & getrecommendations! Published in 2020 at "Haematologica"
DOI: 10.3324/haematol.2020.259440
Abstract: Faced with the rapidly evolving COVID-19 pandemic, in March 2020 the UK Government advocated strict self-isolation (‘shielding’) to protect extremely vulnerable patient groups deemed at high risk of severe SARS-CoV-2 infection. These included children and… read more here.
Keywords: risk; anemia; age; scd ... See more keywords