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 *

274 related articles for article (PubMed ID: 12810984)

  • 1. [Identification of T274I mutation in the SMN1 gene in a patient with spinal muscular atrophy].
    Jedrzejowska M; Wiszniewski W; Ryniewicz B; Hausmanowa-Petrusewicz I
    Med Wieku Rozwoj; 2002; 6(4):319-27. PubMed ID: 12810984
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Application of a rapid non-invasive technique in the molecular diagnosis of spinal muscular atrophy (SMA).
    Jedrzejowska M; Wiszniewski W; Zimowski J; Kostera-Pruszczyk A; Ryniewicz B; Bal J; Zaremba J; Mazurczak T; Hausmanowa-Petrusewicz I
    Neurol Neurochir Pol; 2005; 39(2):89-94. PubMed ID: 15871052
    [TBL] [Abstract][Full Text] [Related]  

  • 3. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).
    Wirth B
    Hum Mutat; 2000; 15(3):228-37. PubMed ID: 10679938
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

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

  • 8. 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]  

  • 9. SMN1 deletions among singaporean patients with spinal muscular atrophy.
    Lai AH; Tan ES; Law HY; Yoon CS; Ng IS
    Ann Acad Med Singap; 2005 Jan; 34(1):73-7. PubMed ID: 15726222
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. [Spinal muscular atrophy: SMN protein deficiency].
    Jedrzejowska M
    Neurol Neurochir Pol; 2001; 35(2):289-97. PubMed ID: 11599226
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Molecular analysis of SMN1 and NAIP genes in Egyptian patients with spinal muscular atrophy.
    Essawi ML; Effat LK; Shanab GM; Al-Ettribi GM; El-Haronui AA; Karim AM
    Bratisl Lek Listy; 2007; 108(3):133-7. PubMed ID: 17682539
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Prenatal diagnosis of spinal muscular atrophy (SMA) -- indications, restrictions, interpretation of results].
    Jedrzejowska M; Zimowski J; Wiszniewski W; Sielska D; Bal J; Mazurczak T; Hausmanowa-Petrusewicz I; Zaremba J
    Med Wieku Rozwoj; 2004; 8(3 Pt 2):651-61. PubMed ID: 15858238
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Descriptive epidemiology of spinal muscular atrophy type I in Estonia.
    Vaidla E; Talvik I; Kulla A; Kahre T; Hamarik M; Napa A; Metsvaht T; Piirsoo A; Talvik T
    Neuroepidemiology; 2006; 27(3):164-8. PubMed ID: 17035693
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Detection of spinal muscular atrophy carriers by nested polymerase chain reaction of single sperm cells.
    Yaron Y; Cohen T; Mey-Raz N; Schwartz T; Amit A; Malcov M
    Genet Test; 2006; 10(1):18-23. PubMed ID: 16544998
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.