Results 71 to 80 of about 7,598 (255)
T-replete HLA-matched grafts vs T-depleted HLA-mismatched grafts in inborn errors of immunity [PDF]
, 2021 Su Han Lum +19 more
openalex +1 more source
Antithrombin: Deficiency, Diversity, and the Future of Diagnostics
Mass Spectrometry Reviews, EarlyView.ABSTRACT Our healthcare system provides reactive sick‐care, treating patients after symptoms have appeared by prescription of generic and often suboptimal therapy. This strategy brings along high costs and high pressure which is not sustainable.
Mirjam Kruijt +2 more
wiley +1 more source
F1000Research, 2017 The study of inborn errors of immunity is based on a comprehensive clinical description of the patient’s phenotype and the elucidation of the underlying molecular mechanisms and their genetic etiology.
Barbara Bosch +2 more
doaj +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear +7 more
wiley +1 more source
The Immune Deficiency and Dysregulation Activity (IDDA2.1 ‘Kaleidoscope’) Score and Other Clinical Measures in Inborn Errors of Immunity [PDF]
, 2021 Markus G. Seidel +7 more
openalex +1 more source
Next‐generation sequencing in newborn screening: Current status, challenges, and future perspectives
Pediatric Investigation, EarlyView.Newborn screening shifts from biochemical to genetic methods. Global exploration is promising but requires overcoming challenges and international collaboration to optimize implementation. ABSTRACT Newborn screening (NBS) is a key public health intervention that improves children's health outcomes by enabling precise intervention through the early ...
Zhelan Huang, Wenhao Zhou
wiley +1 more source
Neoclassical development of genetic sexing strains for insect pest and disease vector control
Insect Science, EarlyView.The sterile insect technique has been effectively used for decades, and an important component is the availability of sex separation systems, in particular genetic sexing strains. Classical approaches, such as irradiation‐induced chromosomal translocations, have yielded stable strains for species like the Mediterranean fruit fly.
Giovanni Petrucci +5 more
wiley +1 more source
Allergy, EarlyView.IgH repertoire sequencing of a large atopic dermatitis cohort reveal reduced IgE somatic hypermutation and increased IgE diversity associated with food allergen sensitization. Presence of a dog during the first year of life is associated with increased IgE somatic hypermutation, possibly countering the effect of food sensitization.
Kirandeep K. Gill +18 more
wiley +1 more source
The use of next generation sequencing technologies for the diagnosis of inborn errors of immunity
, 2023 Ekaterina Polyakova +8 more
openalex +2 more sources