Intelligent Ratio: A New Method for Carrier and Newborn Screening in Spinal Muscular Atrophy-Reference-Cited by-同舟云学术

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Intelligent Ratio: A New Method for Carrier and Newborn Screening in Spinal Muscular Atrophy

Published:2020-09-01 Issue:9 Volume:24 Page:569-577
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Cavdarli Busranur¹,Ozturk Fatma Nihal²,Guntekin Ergun Sezen³,Ergun Mehmet Ali⁴,Dogan Ozlem⁵,Percin Emriye Ferda⁴

Affiliation:

1. Department of Medical Genetics, Ankara Numune Training and Research Hospital, Ankara, Turkey.

2. Department of Medical Genetics, Dr Sami Ulus Gynecology Obstetrics and Child Health and Diseases Training and Research Hospital, Ankara, Turkey.

3. Department of Biological Sciences, Molecular Biology and Genetics, Middle East Technical University, Ankara, Turkey.

4. Department of Medical Genetics, Faculty of Medicine, Gazi University, Ankara, Turkey.

5. SNP Biotechnology Ltd., Hacettepe University Technopolis, Ankara, Turkey.

Publisher

Mary Ann Liebert Inc

Subject

Genetics(clinical),General Medicine

Link

https://www.liebertpub.com/doi/pdf/10.1089/gtmb.2020.0085

Reference17 articles.

1. Very severe spinal muscular atrophy (Type 0)

2. Rapid diagnosis of spinal muscular atrophy using tetra-primer ARMS PCR assay: Simultaneous detection of SMN1 and SMN2 deletion

3. Diagnosis of Spinal Muscular Atrophy

4. Nusinersen treatment of spinal muscular atrophy: current knowledge and existing gaps

5. Pilot study of population-based newborn screening for spinal muscular atrophy in New York state

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Integrated Approaches and Practical Recommendations in Patient Care Identified with 5q Spinal Muscular Atrophy through Newborn Screening;Genes;2024-06-29

2. Carrier Screening and Diagnosis for Spinal Muscular Atrophy Using Droplet Digital PCR Versus MLPA: Analytical Validation and Early Test Outcome;Genetic Testing and Molecular Biomarkers;2024-05-01

3. A new line method; A direct test in spinal muscular atrophy screening for DBS;Molecular Genetics & Genomic Medicine;2023-08-23

4. Carrier frequency of SMA by quantitative analysis of the SMN1 deletion in the Northern- Cyprus population;2022-12-16

5. Newborn Screening for 5q Spinal Muscular Atrophy: Comparisons between Real-Time PCR Methodologies and Cost Estimations for Future Implementation Programs;International Journal of Neonatal Screening;2021-08-11

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