Gene Copy Number Quantification of SHOX, VAMP7, and SRY for the Detection of Sex Chromosome Aneuploidies in Neonates-Reference-Cited by-同舟云学术

Gene Copy Number Quantification of SHOX, VAMP7, and SRY for the Detection of Sex Chromosome Aneuploidies in Neonates

Published:2020-06-01 Issue:6 Volume:24 Page:352-358
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Ibarra-Ramírez Marisol¹,Lugo-Trampe José de Jesús¹,Campos-Acevedo Luis Daniel¹,Zamudio-Osuna Michelle¹,Torres-Muñoz Iris¹,Gómez-Puente Viviana¹,García-Castañeda Gloria¹,Arredondo-Vázquez Patricia²,Rodríguez-Sánchez Irám Pablo¹,Schaeffer S. Elisa³,Velasco-Sepúlveda Braulio Hernán¹,Villarreal-Pérez Jesús Zacarías⁴,Martínez-de-Villarreal Laura Elia¹

Affiliation:

1. Departamento de Genética and Facultad de Medicina y Hospital Universitario José E. González, Universidad Autónoma de Nuevo León (UANL), Monterrey, Nuevo León, México.

2. Departamento de Epidemiología, Servicios de Salud de Nuevo León, México.

3. Departamento de Posgrado en Ingeniería de Sistemas (PISIS), FIME, Universidad Autónoma de Nuevo León (UANL), San Nicolas de los Garza, Nuevo León, México.

4. Departamento de Endocrinología, Facultad de Medicina y Hospital Universitario José E. González, Universidad Autónoma de Nuevo León (UANL), Monterrey, Nuevo León, México.

Publisher

Mary Ann Liebert Inc

Subject

Genetics (clinical),General Medicine

Link

https://www.liebertpub.com/doi/pdf/10.1089/gtmb.2019.0226

Reference35 articles.

1. Detection of increased gene copy number in DNA from dried blood spot samples allows efficient screening for Klinefelter syndrome

2. Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study

3. Dosage of Sex Chromosomal Genes in Blood Deposited on Filter Paper for Neonatal Screening of Sex Chromosome Aneuploidy

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1. Clinical practice guidelines for the care of girls and women with Turner syndrome;European Journal of Endocrinology;2024-05-15

2. Integrative epigenome profiling of 47XXY provides insights into whole genomic DNA hypermethylation and active chromatin accessibility;Frontiers in Molecular Biosciences;2023-03-27