Last Posted: Aug 13, 2020
- A newborn screening pilot study using methylation-sensitive high resolution melting on dried blood spots to detect Prader-Willi and Angelman syndromes.
Ferreira Igor Ribeiro et al. Scientific reports 2020 Aug 10(1) 13026 - Newborn Screening through TREC, TREC/KREC system for Primary Immunodeficiency with limitation of TREC/KREC. Comprehensive review.
Shinwari Khyber et al. Anti-inflammatory & anti-allergy agents in medicinal chemistry 2020 Jul - Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency.
Strand Janne et al. Frontiers in immunology 2020 111417 - Genomic sequencing to screen newborns raises more false alarms than routine blood tests, study finds
R Robbins, Stat News, August 10, 2020 - The role of exome sequencing in newborn screening for inborn errors of metabolism
AN Adhikari et al, Nature Medicine, August 10, 2020 - Diagnostic Testing for Patients with Spinal Muscular Atrophy.
Brandsema John F et al. Clinics in laboratory medicine 2020 Sep 40(3) 357-367 - The Addition of MCADD to the Newborn Blood Spot Screening Programme
Ryan H et al. Irish medical journal 2019 112(8) 995 - Intelligent Ratio: A New Method for Carrier and Newborn Screening in Spinal Muscular Atrophy.
Cavdarli Busranur et al. Genetic testing and molecular biomarkers 2020 Jul - Targeted next generation sequencing for newborn screening of Menkes disease.
Parad Richard B et al. Molecular genetics and metabolism reports 2020 Sep 24100625 - Molecular Diagnosis of Inherited Immune Disorders.
Farmer Jocelyn R et al. Clinics in laboratory medicine 2019 39(4) 685-697
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