BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

286 related articles for article (PubMed ID: 28634652)

  • 1. A multi-source approach to determine SMA incidence and research ready population.
    Verhaart IEC; Robertson A; Leary R; McMacken G; König K; Kirschner J; Jones CC; Cook SF; Lochmüller H
    J Neurol; 2017 Jul; 264(7):1465-1473. PubMed ID: 28634652
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe.
    Bladen CL; Thompson R; Jackson JM; Garland C; Wegel C; Ambrosini A; Pisano P; Walter MC; Schreiber O; Lusakowska A; Jedrzejowska M; Kostera-Pruszczyk A; van der Pol L; Wadman RI; Gredal O; Karaduman A; Topaloglu H; Yilmaz O; Matyushenko V; Rasic VM; Kosac A; Karcagi V; Garami M; Herczegfalvi A; Monges S; Moresco A; Chertkoff L; Chamova T; Guergueltcheva V; Butoianu N; Craiu D; Korngut L; Campbell C; Haberlova J; Strenkova J; Alejandro M; Jimenez A; Ortiz GG; Enriquez GV; Rodrigues M; Roxburgh R; Dawkins H; Youngs L; Lahdetie J; Angelkova N; Saugier-Veber P; Cuisset JM; Bloetzer C; Jeannet PY; Klein A; Nascimento A; Tizzano E; Salgado D; Mercuri E; Sejersen T; Kirschner J; Rafferty K; Straub V; Bushby K; Verschuuren J; Beroud C; Lochmüller H
    J Neurol; 2014 Jan; 261(1):152-63. PubMed ID: 24162038
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Survey of patients with spinal muscular atrophy on the island of Shikoku, Japan.
    Okamoto K; Motoki T; Saito I; Urate R; Aibara K; Jogamoto T; Fukuda M; Wakamoto H; Maniwa S; Kondo Y; Toda Y; Goji A; Mori T; Soga T; Konishi Y; Nagai S; Takami Y; Tokorodani C; Nishiuchi R; Usui D; Ando R; Tada S; Yamanishi Y; Nagai M; Arakawa R; Saito K; Nishio H; Ishii E; Eguchi M
    Brain Dev; 2020 Sep; 42(8):594-602. PubMed ID: 32505480
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Spinal muscular atrophy carrier frequency and estimated prevalence of the disease in Moroccan newborns.
    Lyahyai J; Sbiti A; Barkat A; Ratbi I; Sefiani A
    Genet Test Mol Biomarkers; 2012 Mar; 16(3):215-8. PubMed ID: 21950724
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Spinal muscular atrophy.
    D'Amico A; Mercuri E; Tiziano FD; Bertini E
    Orphanet J Rare Dis; 2011 Nov; 6():71. PubMed ID: 22047105
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. The prevalence of muscular dystrophy and spinal muscular atrophy in Croatia: data from national and non-governmental organization registries.
    Draušnik Ž; Cerovečki I; Štefančić V; Mihel S; Stevanović R; Barišić N; Matković H; Melša M; Mirić M; Pjevač N; Benjak T
    Croat Med J; 2019 Dec; 60(6):488-493. PubMed ID: 31894913
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Study of SMN gene in Chinese children with spinal muscular atrophy].
    Liu WL; Li F; Ma HW; Li HY
    Zhongguo Dang Dai Er Ke Za Zhi; 2010 Jul; 12(7):539-43. PubMed ID: 20637152
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Infantile spinal atrophy: our experience in the last 25 years].
    Madrid Rodríguez A; Martínez Martínez PL; Ramos Fernández JM; Urda Cardona A; Martínez Antón J
    An Pediatr (Barc); 2015 Mar; 82(3):159-65. PubMed ID: 25103837
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review.
    Verhaart IEC; Robertson A; Wilson IJ; Aartsma-Rus A; Cameron S; Jones CC; Cook SF; Lochmüller H
    Orphanet J Rare Dis; 2017 Jul; 12(1):124. PubMed ID: 28676062
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Impact of a national population-based carrier-screening program on spinal muscular atrophy births.
    Aharoni S; Nevo Y; Orenstein N; Basel-Salmon L; Ben-Shachar S; Mussaffi H; Sagi-Dain L; Cohen R; Singer A
    Neuromuscul Disord; 2020 Dec; 30(12):970-974. PubMed ID: 33218846
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Epidemiological investigation of spinal muscular atrophy in Japan.
    Ito M; Yamauchi A; Urano M; Kato T; Matsuo M; Nakashima K; Saito K
    Brain Dev; 2022 Jan; 44(1):2-16. PubMed ID: 34452804
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Observation of the natural course of type 3 spinal muscular atrophy: data from the polish registry of spinal muscular atrophy.
    Lusakowska A; Jedrzejowska M; Kaminska A; Janiszewska K; Grochowski P; Zimowski J; Sierdzinski J; Kostera-Pruszczyk A
    Orphanet J Rare Dis; 2021 Mar; 16(1):150. PubMed ID: 33761963
    [TBL] [Abstract][Full Text] [Related]  

  • 15. SMN2 and NAIP gene dosages in Vietnamese patients with spinal muscular atrophy.
    Tran VK; Sasongko TH; Hong DD; Hoan NT; Dung VC; Lee MJ; Gunadi ; Takeshima Y; Matsuo M; Nishio H
    Pediatr Int; 2008 Jun; 50(3):346-51. PubMed ID: 18533950
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [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]  

  • 17. The SMN1 common variant c.22 dupA in Chinese patients causes spinal muscular atrophy by nonsense-mediated mRNA decay in humans.
    Bai J; Qu Y; Cao Y; Yang L; Ge L; Jin Y; Wang H; Song F
    Gene; 2018 Feb; 644():49-55. PubMed ID: 29080838
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Spinal muscular atrophy: newborn and carrier screening.
    Prior TW
    Obstet Gynecol Clin North Am; 2010 Mar; 37(1):23-36, Table of Contents. PubMed ID: 20494255
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Genetic testing and risk assessment for spinal muscular atrophy (SMA).
    Ogino S; Wilson RB
    Hum Genet; 2002 Dec; 111(6):477-500. PubMed ID: 12436240
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Homozygous deletion in the SMN1 gene in asymptomatic individual - genetic counselling issues in SMA-risk families.
    Jędrzejowska M; Szczałuba K; Sielska D
    Med Wieku Rozwoj; 2011; 15(2):126-31. PubMed ID: 22002043
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.