Dosage of Sex Chromosomal Genes in Blood Deposited on Filter Paper for Neonatal Screening of Sex Chromosome Aneuploidy
Author:
Affiliation:
1. Departamento de Genética, Facultad de Medicina y Hospital Universitario José E. González, Universidad Autónoma de Nuevo León (UANL), Monterrey, México.
Publisher
Mary Ann Liebert Inc
Subject
Genetics (clinical),General Medicine
Link
http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2016.0101
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1. Detection of increased gene copy number in DNA from dried blood spot samples allows efficient screening for Klinefelter syndrome
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4. Care of Girls and Women with Turner Syndrome: A Guideline of the Turner Syndrome Study Group
5. Validation of a Ligand Binding Assay Using Dried Blood Spot Sampling
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1. Discordant Prenatal Cell-Free DNA Screening vs. Diagnostic Results of Sex Chromosome Aneuploidies: Implications for Newborn Screening and Genetic Counseling;International Journal of Neonatal Screening;2024-07-10
2. Clinical practice guidelines for the care of girls and women with Turner syndrome;European Journal of Endocrinology;2024-05-15
3. Gene Copy Number Quantification of SHOX, VAMP7, and SRY for the Detection of Sex Chromosome Aneuploidies in Neonates;Genetic Testing and Molecular Biomarkers;2020-06-01
4. Early Development of Infants with Turner Syndrome;Journal of Developmental & Behavioral Pediatrics;2020-02-28
5. Rapid screening for Klinefelter syndrome with a simple high-resolution melting assay: a multicenter study;Asian Journal of Andrology;2018
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