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 *

506 related articles for article (PubMed ID: 25838041)

  • 1. Two Japanese Patients With SMA Type 1 Suggest that Axonal-SMN May Not Modify the Disease Severity.
    Yamada H; Nishida Y; Maihara T; Sa'adah N; Harahap NI; Nurputra DK; Ar Rochmah M; Nishimura N; Saito T; Kubo Y; Saito K; Nishio H
    Pediatr Neurol; 2015 Jun; 52(6):638-41. PubMed ID: 25838041
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A paucisymptomatic neuromuscular disease mimicking type III 5q-SMA with complex rearrangements in the SMN gene.
    Lohkamp LN; von Au K; Goebel HH; Kress W; Grieben U; Drossel K; Garbes L; Wirth B; Heppner FL; Stenzel W
    J Child Neurol; 2014 Feb; 29(2):254-9. PubMed ID: 24334346
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy.
    Sun Y; Grimmler M; Schwarzer V; Schoenen F; Fischer U; Wirth B
    Hum Mutat; 2005 Jan; 25(1):64-71. PubMed ID: 15580564
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. [Quantitative analysis of the genes determining spinal muscular atrophy].
    Nagymihály M; Herczegfalvi A; Tímár L; Karcagi V
    Ideggyogy Sz; 2009 Nov; 62(11-12):390-7. PubMed ID: 20025129
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The gene copy ratios of SMN1/SMN2 in Japanese carriers with type I spinal muscular atrophy.
    Diep Tran T; Kroepfl T; Saito M; Nagura M; Ichiseki H; Kubota M; Toda T; Sakakihara Y
    Brain Dev; 2001 Aug; 23(5):321-6. PubMed ID: 11504604
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Mutation analysis of SMN gene in a patient and his family with spinal muscular atrophy].
    Zeng J; Lin YH; Yan AZ; Cai MY; Ke LF; Lan FH
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Apr; 26(2):139-43. PubMed ID: 19350502
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Analysis and carrier screening for copy numbers of SMN and NAIP genes in children with spinal muscular atrophy].
    Zeng G; Zheng H; Cheng J; Chen R; Lin H; Yang J; Zhang D
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Apr; 31(2):152-5. PubMed ID: 24711022
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [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]  

  • 10. [SMN1 Gene Point Mutations in Type I-IV Proximal Spinal Muscular Atrophy Patients with a Single Copy of SMN1].
    Genetika; 2015 Sep; 51(9):1075-82. PubMed ID: 26606804
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Spinal muscular atrophy diagnostics.
    Prior TW
    J Child Neurol; 2007 Aug; 22(8):952-6. PubMed ID: 17761649
    [TBL] [Abstract][Full Text] [Related]  

  • 12. ZPR1 prevents R-loop accumulation, upregulates SMN2 expression and rescues spinal muscular atrophy.
    Kannan A; Jiang X; He L; Ahmad S; Gangwani L
    Brain; 2020 Jan; 143(1):69-93. PubMed ID: 31828288
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Molecular analysis of survival motor neuron gene in 338 suspicious children patients with spinal muscular atrophy].
    Song F; Qu YJ; Zou LP; Wang LW; Long MJ; Wang X; Yang YL; Chen Q; Wang H; Jin YW
    Zhonghua Er Ke Za Zhi; 2008 Dec; 46(12):919-23. PubMed ID: 19134255
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Combination of SMN2 copy number and NAIP deletion predicts disease severity in spinal muscular atrophy.
    Watihayati MS; Fatemeh H; Marini M; Atif AB; Zahiruddin WM; Sasongko TH; Tang TH; Zabidi-Hussin ZA; Nishio H; Zilfalil BA
    Brain Dev; 2009 Jan; 31(1):42-5. PubMed ID: 18842367
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Spinal muscular atrophy type III: Molecular genetic characterization of Turkish patients.
    Bora-Tatar G; Yesbek-Kaymaz A; Bekircan-Kurt CE; Erdem-Özdamar S; Erdem-Yurter H
    Eur J Med Genet; 2015 Dec; 58(12):654-8. PubMed ID: 26548498
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Genetic and expression studies of SMN2 gene in Russian patients with spinal muscular atrophy type II and III.
    Zheleznyakova GY; Kiselev AV; Vakharlovsky VG; Rask-Andersen M; Chavan R; Egorova AA; Schiöth HB; Baranov VS
    BMC Med Genet; 2011 Jul; 12():96. PubMed ID: 21762474
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations.
    Martín Y; Valero A; del Castillo E; Pascual SI; Hernández-Chico C
    Hum Genet; 2002 Mar; 110(3):257-63. PubMed ID: 11935338
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Genotype-phenotype relationship in 2 SMA III patients with novel mutations in the Tudor domain.
    Fraidakis MJ; Drunat S; Maisonobe T; Gerard B; Pradat PF; Meininger V; Salachas F
    Neurology; 2012 Feb; 78(8):551-6. PubMed ID: 22323744
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Molecular diagnosis of spinal muscular atrophy by multiplex ligation-dependent probe amplification].
    Zeng J; Ke LF; Deng XJ; Cai MY; Tu XD; Lan FH
    Zhonghua Yi Xue Za Zhi; 2008 Dec; 88(46):3262-4. PubMed ID: 19159550
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 26.