What's New
Last Posted: Jan 03, 2020
- Association of carbamazepine-induced Stevens–Johnson syndrome/toxic epidermal necrolysis with the HLA-B75 serotype or HLA-B*15:21 allele in Filipino patients
F Capule et al, PGX journal. January 3, 2020 - 244th ENMC international workshop: Newborn screening in spinal muscular atrophy May 10-12, 2019, Hoofdorp, The Netherlands.
Dangouloff Tamara et al. Neuromuscular disorders : NMD 2019 Nov - A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism.
Meinke Peter et al. EBioMedicine 2019 Dec - Black Women's Confidence in the Genetic Information Nondiscrimination Act.
Sutton Arnethea L et al. International journal of environmental research and public health 2019 Dec 16(24) - Combining newborn metabolic and genetic screening for neonatal intrahepatic cholestasis caused by citrin deficiency.
Lin Yiming et al. Journal of inherited metabolic disease 2019 Dec - Cystic fibrosis carriers are at increased risk for a wide range of cystic fibrosis-related conditions.
Miller Aaron C et al. Proceedings of the National Academy of Sciences of the United States of America 2019 Dec - High throughput newborn screening for aromatic L-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots.
Brennenstuhl Heiko et al. Journal of inherited metabolic disease 2019 Dec - Impact of CYP2D6 polymorphisms on tamoxifen treatment in patients with retroperitoneal fibrosis: A first step towards tailored therapy?
Dreger Nici Markus et al. Urology 2019 Dec - Increased Overall Mortality Even after Risk Reducing Surgery for BRCA -Positive Women in Western Sweden.
Öfverholm Anna et al. Genes 2019 Dec 10(12) - Latinas' knowledge of and experiences with genetic cancer risk assessment: Barriers and facilitators.
Gómez-Trillos Sara et al. Journal of genetic counseling 2019 Dec - Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophy.
Signorelli Mirko et al. Journal of cachexia, sarcopenia and muscle 2019 Dec - Methodological quality of clinical practice guidelines for genetic testing in children: A systematic assessment using the appraisal of guidelines for research and evaluation II instrument.
Jiao Xue-Feng et al. Medicine 2019 Dec 98(52) e18521 - Short-term and long-term outcomes after preventive surgery in adolescent patients with familial adenomatous polyposis.
Vitellaro Marco et al. Pediatric blood & cancer 2019 Dec e28110 - Simultaneous germline and somatic sequencing in ovarian carcinoma: mutation rate and impact on clinical decision-making.
Jorge Soledad et al. Gynecologic oncology 2019 Dec - Systematic Review of the Genetics of Sudden Unexpected Death in Epilepsy: Potential Overlap With Sudden Cardiac Death and Arrhythmia-Related Genes.
Chahal C Anwar A et al. Journal of the American Heart Association 2020 Jan 9(1) e012264 - Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease.
Cortese Andrea et al. Neurology 2020 Jan 94(1) e51-e61 - Universal strategy for preimplantation genetic testing for cystic fibrosis based on next-generation sequencing.
Chamayou Sandrine et al. Journal of assisted reproduction and genetics 2019 Dec - Validation of Fragile X Screening in the Newborn Population Using a Fit-for-Purpose FMR1 PCR Assay System.
Lee Stacey et al. The Journal of molecular diagnostics : JMD 2019 Dec - [Noninvasive prenatal genetic testing in 6804 pregnant women aged less than 35 years with positive results in serum screening].
Yang Xingkun et al. Nan fang yi ke da xue xue bao = Journal of Southern Medical University 2019 Nov 39(11) 1350-1356 - A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings.
Chai Hongyan et al. Frontiers in genetics 2019 101162
.png)
No hay comentarios:
Publicar un comentario