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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

219 related articles for article (PubMed ID: 31921298)

  • 21. Spinal Muscular Atrophy in the Black South African Population: A Matter of Rearrangement?
    Vorster E; Essop FB; Rodda JL; Krause A
    Front Genet; 2020; 11():54. PubMed ID: 32117462
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Newborn Screening for Spinal Muscular Atrophy: A 2.5-Year Experience in Hyogo Prefecture, Japan.
    Sonehara S; Bo R; Nambu Y; Iketani K; Lee T; Shimomura H; Ueda M; Takeshima Y; Iijima K; Nozu K; Nishio H; Awano H
    Genes (Basel); 2023 Dec; 14(12):. PubMed ID: 38137033
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Molecular analysis of SMN1, SMN2, NAIP, GTF2H2, and H4F5 genes in 157 Chinese patients with spinal muscular atrophy.
    He J; Zhang QJ; Lin QF; Chen YF; Lin XZ; Lin MT; Murong SX; Wang N; Chen WJ
    Gene; 2013 Apr; 518(2):325-9. PubMed ID: 23352792
    [TBL] [Abstract][Full Text] [Related]  

  • 24. [Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a reliable method for detection of non-homozygous patients with spinal muscular atrophy].
    Long MJ; Song F; Qu YJ; Meng Y; Wang H; Jin YW; Huang SZ
    Zhonghua Yi Xue Za Zhi; 2008 May; 88(18):1259-63. PubMed ID: 18844099
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Intragenic and structural variation in the
    Wadman RI; Jansen MD; Stam M; Wijngaarde CA; Curial CAD; Medic J; Sodaar P; Schouten J; Vijzelaar R; Lemmink HH; van den Berg LH; Groen EJN; van der Pol WL
    Brain Commun; 2020; 2(2):fcaa075. PubMed ID: 32954327
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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]  

  • 27. [Mutation analysis of SMN1 gene in patients with spinal muscular atrophy].
    DU J; Qu YJ; Xiong H; Li EZ; Jin YW; Bai JL; Wang H; Song F
    Zhonghua Er Ke Za Zhi; 2011 Jun; 49(6):411-5. PubMed ID: 21924051
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients.
    Yamamoto T; Sato H; Lai PS; Nurputra DK; Harahap NI; Morikawa S; Nishimura N; Kurashige T; Ohshita T; Nakajima H; Yamada H; Nishida Y; Toda S; Takanashi J; Takeuchi A; Tohyama Y; Kubo Y; Saito K; Takeshima Y; Matsuo M; Nishio H
    Brain Dev; 2014 Nov; 36(10):914-20. PubMed ID: 24359787
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Technical feasibility of newborn screening for spinal muscular atrophy by next-generation DNA sequencing.
    Shum BOV; Henner I; Cairns A; Pretorius C; Wilgen U; Barahona P; Ungerer JPJ; Bennett G
    Front Genet; 2023; 14():1095600. PubMed ID: 36713073
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Trinucleotide insertion in the SMN2 promoter may not be related to the clinical phenotype of SMA.
    Harahap NI; Takeuchi A; Yusoff S; Tominaga K; Okinaga T; Kitai Y; Takarada T; Kubo Y; Saito K; Sa'adah N; Nurputra DK; Nishimura N; Saito T; Nishio H
    Brain Dev; 2015 Aug; 37(7):669-76. PubMed ID: 25459970
    [TBL] [Abstract][Full Text] [Related]  

  • 31. [Molecular Features of SMA-related Genes in Spinal Muscular Atrophy Patients of Han Nationality in Southwest China.].
    Wang MJ; Wang J; Bai MG; Zhou WJ; Wu LJ; Tang SS; Lu XJ; Ying BW
    Sichuan Da Xue Xue Bao Yi Xue Ban; 2016 Nov; 47(6):936-940. PubMed ID: 28598128
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Newborn screening for spinal muscular atrophy in Osaka -challenges in a Japanese pilot study.
    Kimizu T; Ida S; Oki K; Shima M; Nishimoto S; Nakajima K; Ikeda T; Mogami Y; Yanagihara K; Matsuda K; Nishi E; Hasegawa Y; Nozaki M; Fujita H; Irie A; Katayama T; Okamoto N; Imai K; Nishio H; Suzuki Y
    Brain Dev; 2023 Aug; 45(7):363-371. PubMed ID: 36973114
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. [Analysis of survival motor neuron gene conversion in patients with spinal muscular atrophy].
    He SX; Ge XS; Qu YJ; Jin YW; Wang H; Bai JL; Song F
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Dec; 28(6):606-11. PubMed ID: 22161088
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. Genotype-phenotype correlation of SMN locus genes in spinal muscular atrophy children from Argentina.
    Medrano S; Monges S; Gravina LP; Alías L; Mozzoni J; Aráoz HV; Bernal S; Moresco A; Chertkoff L; Tizzano E
    Eur J Paediatr Neurol; 2016 Nov; 20(6):910-917. PubMed ID: 27510309
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number.
    Wirth B; Brichta L; Schrank B; Lochmüller H; Blick S; Baasner A; Heller R
    Hum Genet; 2006 May; 119(4):422-8. PubMed ID: 16508748
    [TBL] [Abstract][Full Text] [Related]  

  • 38. [Supplementary value of denaturing high performance liquid chromatography for routine prenatal diagnosis of spinal muscular atrophy by multiple ligation-dependent probe amplification].
    Tan Y; Wang H; Zhao T; Cheng M; Zhang C
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Dec; 36(12):1175-1178. PubMed ID: 31813141
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. Determination of SMN1/SMN2 gene dosage by a quantitative genotyping platform combining capillary electrophoresis and MALDI-TOF mass spectrometry.
    Kao HY; Su YN; Liao HK; Liu MS; Chen YJ
    Clin Chem; 2006 Mar; 52(3):361-9. PubMed ID: 16439605
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.