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 *

74 related articles for article (PubMed ID: 19839757)

  • 1. Preliminary results in a study regarding the relationship between perlecan gene polymorphism and spinal muscular atrophy type I disease.
    Stavarachi M; Toma M; Butoianu N; Gavrila L
    Genet Test Mol Biomarkers; 2009 Dec; 13(6):821-4. PubMed ID: 19839757
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Isolated exon 8 deletion in type 1 spinal muscular atrophy with bilateral optic atrophy: unusual genetic mutation leading to unusual manifestation?
    Maiti D; Bhattacharya M; Yadav S
    J Postgrad Med; 2012; 58(4):294-5. PubMed ID: 23298926
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [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]  

  • 4. 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]  

  • 5. De novo and inherited deletions of the 5q13 region in spinal muscular atrophies.
    Melki J; Lefebvre S; Burglen L; Burlet P; Clermont O; Millasseau P; Reboullet S; Bénichou B; Zeviani M; Le Paslier D
    Science; 1994 Jun; 264(5164):1474-7. PubMed ID: 7910982
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Genetic homogeneity between acute and chronic forms of spinal muscular atrophy.
    Gilliam TC; Brzustowicz LM; Castilla LH; Lehner T; Penchaszadeh GK; Daniels RJ; Byth BC; Knowles J; Hislop JE; Shapira Y
    Nature; 1990 Jun; 345(6278):823-5. PubMed ID: 1972783
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [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]  

  • 8. Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings.
    Rudnik-Schöneborn S; Forkert R; Hahnen E; Wirth B; Zerres K
    Neuropediatrics; 1996 Feb; 27(1):8-15. PubMed ID: 8677029
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Molecular genetic diagnosis and deletion analysis in Type I-III spinal muscular atrophy].
    Spiegel R; Hagmann A; Boltshauser E; Moser H
    Schweiz Med Wochenschr; 1996 May; 126(21):907-14. PubMed ID: 8693311
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Synaptic defects in type I spinal muscular atrophy in human development.
    Martínez-Hernández R; Bernal S; Also-Rallo E; Alías L; Barceló MJ; Hereu M; Esquerda JE; Tizzano EF
    J Pathol; 2013 Jan; 229(1):49-61. PubMed ID: 22847626
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Very severe spinal muscular atrophy (SMA type 0): an expanding clinical phenotype.
    Dubowitz V
    Eur J Paediatr Neurol; 1999; 3(2):49-51. PubMed ID: 10700538
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Spinal muscular atrophy patient detection and carrier screening using dried blood spots on filter paper.
    Harahap NI; Harahap IS; Kaszynski RH; Nurputra DK; Hartomo TB; Pham HT; Yamamoto T; Morikawa S; Nishimura N; Rusdi I; Widiastuti R; Nishio H
    Genet Test Mol Biomarkers; 2012 Feb; 16(2):123-9. PubMed ID: 21942573
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. [Spinal muscular atrophy in childhood. Possibilities and limits of clinical and molecular genetic diagnosis].
    Zerres K; Rudnik-Schöneborn S; Röhrig D; Wirth B
    Monatsschr Kinderheilkd; 1993 Nov; 141(11):848-54. PubMed ID: 8283989
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Molecular prenatal diagnosis of autosomal recessive childhood spinal muscular atrophies (SMAs).
    Essawi ML; Al-Attribi GM; Gaber KR; El-Harouni AA
    Gene; 2012 Nov; 509(1):120-3. PubMed ID: 22921322
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Prenatal onset spinal muscular atrophy.
    MacLeod MJ; Taylor JE; Lunt PW; Mathew CG; Robb SA
    Eur J Paediatr Neurol; 1999; 3(2):65-72. PubMed ID: 10700541
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy.
    Arkblad E; Tulinius M; Kroksmark AK; Henricsson M; Darin N
    Acta Paediatr; 2009 May; 98(5):865-72. PubMed ID: 19154529
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Prenatal diagnosis of the acute form of proximal spinal muscular atrophy: experience on the acceptance of linkage analyses by the families.
    Huschenbett J; Hanke R; Pfeifer L; Speer A
    Prenat Diagn; 1993 Jul; 13(7):643-9. PubMed ID: 8105458
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Correlation between genotype and phenotype in Korean patients with spinal muscular atrophy.
    Cho K; Ryu K; Lee E; Won S; Kim J; Yoo OJ; Hahn S
    Mol Cells; 2001 Feb; 11(1):21-7. PubMed ID: 11266116
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 4.