Spinal Muscular Atrophy Patient Detection and Carrier Screening Using Dried Blood Spots on Filter Paper-Reference-Cited by-同舟云学术

Spinal Muscular Atrophy Patient Detection and Carrier Screening Using Dried Blood Spots on Filter Paper

Published:2012-02 Issue:2 Volume:16 Page:123-129
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Harahap Nur Imma Fatimah¹²,Harahap Indra Sari Kusuma¹³,Kaszynski Richard Hideki⁴,Nurputra Dian Kesuma Pramudya¹,Hartomo Tri Budi¹,Pham Huyen Thi Van¹,Yamamoto Tomoto¹⁵,Morikawa Satoru¹⁵,Nishimura Noriyuki¹⁵,Rusdi Imam³,Widiastuti Retno²,Nishio Hisahide¹⁵

Affiliation:

1. Division of Genetic Epidemiology, Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, Kobe, Japan.

2. Faculty of Medicine, Jenderal Soedirman University, Purwokerto, Indonesia.

3. Department of Neurology, Faculty of Medicine, Gadjah Mada University, Yogyakarta, Indonesia.

4. Department of Legal Medicine, Kobe University Graduate School of Medicine, Kobe, Japan.

5. Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.

Publisher

Mary Ann Liebert Inc

Subject

Genetics(clinical),General Medicine

Link

http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2011.0109

Reference19 articles.

1. Isolation of high-molecular-weight DNA from small samples of blood having nucleated erythrocytes, collected, transported, and stored at room temperature

2. Simple, Sensitive, and Specific Detection of Human Immunodeficiency Virus Type 1 Subtype B DNA in Dried Blood Samples for Diagnosis in Infants in the Field

3. Quantitative Analyses of SMN1 and SMN2 Based on Real-Time LightCycler PCR: Fast and Highly Reliable Carrier Testing and Prediction of Severity of Spinal Muscular Atrophy

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1. Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023);International Journal of Neonatal Screening;2024-05-23

2. Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan;International Journal of Neonatal Screening;2021-07-20

3. Dried Blood Spot Screening System for Spinal Muscular Atrophy with Allele-Specific Polymerase Chain Reaction and Melting Peak Analysis;Genetic Testing and Molecular Biomarkers;2021-04-01

4. Genetic screening of spinal muscular atrophy using a real-time modified COP-PCR technique with dried blood-spot DNA;Brain and Development;2017-10

5. Dosage of Sex Chromosomal Genes in Blood Deposited on Filter Paper for Neonatal Screening of Sex Chromosome Aneuploidy;Genetic Testing and Molecular Biomarkers;2016-12