These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
5. PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan. Noguchi Y; Bo R; Nishio H; Matsumoto H; Matsui K; Yano Y; Sugawara M; Ueda G; Wijaya YOS; Niba ETE; Shinohara M; Bouike Y; Takeuchi A; Okamoto K; Saito T; Shimomura H; Lee T; Takeshima Y; Iijima K; Nozu K; Awano H Genes (Basel); 2022 Nov; 13(11):. PubMed ID: 36421785 [TBL] [Abstract][Full Text] [Related]
6. Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening. Chien YH; Chiang SC; Weng WC; Lee NC; Lin CJ; Hsieh WS; Lee WT; Jong YJ; Ko TM; Hwu WL J Pediatr; 2017 Nov; 190():124-129.e1. PubMed ID: 28711173 [TBL] [Abstract][Full Text] [Related]
7. Spinal Muscular Atrophy Type I With False Negative in Newborn Screening: A Case Report. Hashimoto K; Yokokawa M; Yamashita D; Yuge K; Otsubo Y Cureus; 2023 Jul; 15(7):e42382. PubMed ID: 37621829 [TBL] [Abstract][Full Text] [Related]
8. Newborn screening for spinal muscular atrophy in Japan: One year of experience. Sawada T; Kido J; Sugawara K; Yoshida S; Ozasa S; Nomura K; Okada K; Fujiyama N; Nakamura K Mol Genet Metab Rep; 2022 Sep; 32():100908. PubMed ID: 35942129 [TBL] [Abstract][Full Text] [Related]
9. Spinal Muscular Atrophy: New Screening System with Real-Time mCOP-PCR and PCR-RFLP for SMN1 Deletion. Niba ETE; Rochmah MA; Harahap NIF; Awano H; Morioka I; Iijima K; Takeshima Y; Saito T; Saito K; Takeuchi A; Lai PS; Bouike Y; Matsuo M; Nishio H; Shinohara M Kobe J Med Sci; 2019 Jul; 65(2):E44-E48. PubMed ID: 31956255 [TBL] [Abstract][Full Text] [Related]
10. Screening of Neonatal UK Dried Blood Spots Using a Duplex SMN1 Screening Assay. Adams SP; Gravett E; Kent N; Kricke S; Ifederu A; Scoto M; Samsuddin S; Muntoni F Int J Neonatal Screen; 2021 Oct; 7(4):. PubMed ID: 34842601 [TBL] [Abstract][Full Text] [Related]
11. Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and Assessment of Spinal Muscular Atrophy. Vidal-Folch N; Gavrilov D; Raymond K; Rinaldo P; Tortorelli S; Matern D; Oglesbee D Clin Chem; 2018 Dec; 64(12):1753-1761. PubMed ID: 30352867 [TBL] [Abstract][Full Text] [Related]
12. Spinal Muscular Atrophy: Advanced Version of Screening System with Real-Time mCOP-PCR and PCR-RFLP for SMN1 Deletion. Niba ETE; Rochmah MA; Harahap NIF; Awano H; Morioka I; Iijima K; Takeshima Y; Saito T; Saito K; Takeuchi A; Lai PS; Bouike Y; Matsuo M; Nishio H; Shinohara M Kobe J Med Sci; 2019 Jul; 65(2):E49-E53. PubMed ID: 31956256 [TBL] [Abstract][Full Text] [Related]
13. Validation of a Fast, Robust, Inexpensive, Two-Tiered Neonatal Screening Test algorithm on Dried Blood Spots for Spinal Muscular Atrophy. Strunk A; Abbes A; Stuitje AR; Hettinga C; Sepers EM; Snetselaar R; Schouten J; Asselman FL; Cuppen I; Lemmink H; van der Pol WL; Engel H Int J Neonatal Screen; 2019 Jun; 5(2):21. PubMed ID: 33072980 [TBL] [Abstract][Full Text] [Related]
14. Alberta Spinal Muscular Atrophy Newborn Screening-Results from Year 1 Pilot Project. Niri F; Nicholls J; Baptista Wyatt K; Walker C; Price T; Kelln R; Hume S; Parboosingh J; Lilley M; Kolski H; Ridsdale R; Muranyi A; Mah JK; Bulman DE Int J Neonatal Screen; 2023 Jul; 9(3):. PubMed ID: 37606479 [TBL] [Abstract][Full Text] [Related]
15. Genetic screening of spinal muscular atrophy using a real-time modified COP-PCR technique with dried blood-spot DNA. Ar Rochmah M; Harahap NIF; Niba ETE; Nakanishi K; Awano H; Morioka I; Iijima K; Saito T; Saito K; Lai PS; Takeshima Y; Takeuchi A; Bouike Y; Okamoto M; Nishio H; Shinohara M Brain Dev; 2017 Oct; 39(9):774-782. PubMed ID: 28522225 [TBL] [Abstract][Full Text] [Related]
16. Evaluating the performance of four assays for carrier screening of spinal muscular atrophy. Tan J; Zhang J; Sun R; Jiang Z; Wang Y; Ma D; Jiao J; Chen H; Lin Y; Zhang Q; Xu Z; Hu P Clin Chim Acta; 2023 Aug; 548():117496. PubMed ID: 37479010 [TBL] [Abstract][Full Text] [Related]
17. Newborn screening for spinal muscular atrophy: The Wisconsin first year experience. Baker MW; Mochal ST; Dawe SJ; Wiberley-Bradford AE; Cogley MF; Zeitler BR; Piro ZD; Harmelink MM; Kwon JM Neuromuscul Disord; 2022 Feb; 32(2):135-141. PubMed ID: 35120759 [TBL] [Abstract][Full Text] [Related]
18. Association between the SMN2 gene copy number and clinical characteristics of patients with spinal muscular atrophy with homozygous deletion of exon 7 of the SMN1 gene. Zarkov M; Stojadinović A; Sekulić S; Barjaktarović I; Perić S; Keković G; Drasković B; Stević Z Vojnosanit Pregl; 2015 Oct; 72(10):859-63. PubMed ID: 26665550 [TBL] [Abstract][Full Text] [Related]