BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

674 related articles for article (PubMed ID: 17276711)

  • 1. Coinheritance of mutated SMN1 and MECP2 genes in a child with phenotypic features of spinal muscular atrophy (SMA) type II and Rett syndrome.
    Voutoufianakis S; Psoni S; Vorgia P; Tsekoura F; Kekou K; Traeger-Synodinos J; Kitsiou S; Kanavakis E; Fryssira H
    Eur J Paediatr Neurol; 2007 Jul; 11(4):235-9. PubMed ID: 17276711
    [TBL] [Abstract][Full Text] [Related]  

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

  • 3. Transmission ratio distortion in the spinal muscular atrophy locus: data from 314 prenatal tests.
    Botta A; Tacconelli A; Bagni I; Giardina E; Bonifazi E; Pietropolli A; Clementi M; Novelli G
    Neurology; 2005 Nov; 65(10):1631-5. PubMed ID: 16301493
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Prenatal diagnosis of spinal muscular atrophy in Chinese by genetic analysis of fetal cells.
    Wu T; Ding XS; Li WL; Yao J; Deng XX
    Chin Med J (Engl); 2005 Aug; 118(15):1274-7. PubMed ID: 16117881
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Molecular analysis and prenatal prediction of spinal muscular atrophy in Chinese patients by the combination of restriction fragment length polymorphism analysis, denaturing high-performance liquid chromatography, and linkage analysis.
    Chen WJ; Wu ZY; Lin MT; Su JF; Lin Y; Murong SX; Wang N
    Arch Neurol; 2007 Feb; 64(2):225-31. PubMed ID: 17296838
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Synthesis and biological evaluation of novel 2,4-diaminoquinazoline derivatives as SMN2 promoter activators for the potential treatment of spinal muscular atrophy.
    Thurmond J; Butchbach ME; Palomo M; Pease B; Rao M; Bedell L; Keyvan M; Pai G; Mishra R; Haraldsson M; Andresson T; Bragason G; Thosteinsdottir M; Bjornsson JM; Coovert DD; Burghes AH; Gurney ME; Singh J
    J Med Chem; 2008 Feb; 51(3):449-69. PubMed ID: 18205293
    [TBL] [Abstract][Full Text] [Related]  

  • 7. High incidence of SMN1 gene deletion in Moroccan adult-onset spinal muscular atrophy patients.
    Bouhouche A; Benomar A; Birouk N; Bouslam N; Ouazzani R; Yahyaoui M; Chkili T
    J Neurol; 2003 Oct; 250(10):1209-13. PubMed ID: 14586604
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene.
    Cuscó I; López E; Soler-Botija C; Jesús Barceló M; Baiget M; Tizzano EF
    Hum Mutat; 2003 Aug; 22(2):136-43. PubMed ID: 12872254
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Prenatal prediction of childhood-onset spinal muscular atrophy (SMA) in Turkish families.
    Savas S; Eraslan S; Kantarci S; Karaman B; Acarsoz D; Tükel T; Cogulu O; Ozkinay F; Basaran S; Aydinli K; Yuksel-Apak M; Kirdar B
    Prenat Diagn; 2002 Aug; 22(8):703-9. PubMed ID: 12210580
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Genetic conversion of an SMN2 gene to SMN1: a novel approach to the treatment of spinal muscular atrophy.
    DiMatteo D; Callahan S; Kmiec EB
    Exp Cell Res; 2008 Feb; 314(4):878-86. PubMed ID: 18078930
    [TBL] [Abstract][Full Text] [Related]  

  • 12. An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA).
    Helmken C; Wetter A; Rudnik-Schöneborn S; Liehr T; Zerres K; Wirth B
    Eur J Hum Genet; 2000 Jul; 8(7):493-9. PubMed ID: 10909848
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Molecular analysis of the spinal muscular atrophy and neuronal apoptosis inhibitory protein genes in Saudi patients with spinal muscular atrophy.
    Al-Jumah M; Majumdar R; Al-Rajeh S; Awada A; Chaves-Carbello E; Salih M; Al-Shahwan S; Al-Subiey K; Al-Uthaim S
    Saudi Med J; 2003 Oct; 24(10):1052-4. PubMed ID: 14578966
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy.
    Zapletalová E; Hedvicáková P; Kozák L; Vondrácek P; Gaillyová R; Maríková T; Kalina Z; Jüttnerová V; Fajkus J; Fajkusová L
    Neuromuscul Disord; 2007 Jun; 17(6):476-81. PubMed ID: 17475491
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A clinical and genetic study of spinal muscular atrophy.
    Mishra VN; Kalita J; Kesari A; Mitta B; Shankar SK; Misra UK
    Electromyogr Clin Neurophysiol; 2004; 44(5):307-12. PubMed ID: 15378871
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Neonatal spinal muscular atrophy with multiple contractures, bone fractures, respiratory insufficiency and 5q13 deletion.
    García-Cabezas MA; García-Alix A; Martín Y; Gutiérrez M; Hernández C; Rodríguez JI; Morales C
    Acta Neuropathol; 2004 May; 107(5):475-8. PubMed ID: 14968368
    [TBL] [Abstract][Full Text] [Related]  

  • 17. SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS.
    Veldink JH; Kalmijn S; Van der Hout AH; Lemmink HH; Groeneveld GJ; Lummen C; Scheffer H; Wokke JH; Van den Berg LH
    Neurology; 2005 Sep; 65(6):820-5. PubMed ID: 16093455
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [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]  

  • 19. Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy.
    Arkblad EL; Darin N; Berg K; Kimber E; Brandberg G; Lindberg C; Holmberg E; Tulinius M; Nordling M
    Neuromuscul Disord; 2006 Dec; 16(12):830-8. PubMed ID: 17049859
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Molecular analysis of the SMN1 and NAIP genes in 60 Tunisian spinal muscular atrophy patients.
    Mrad R; Dorboz I; Ben Jemaa L; Maazoul F; Trabelsi M; Chaabouni M; Mlaiki B; Miladi N; Hentati F; Chaabouni H
    Tunis Med; 2006 Aug; 84(8):465-9. PubMed ID: 17175684
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 34.