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 *

212 related articles for article (PubMed ID: 12596974)

  • 1. Molecular diagnosis of spinal muscular atrophy in Egyptians.
    Shawky RM; Abd el-Aleem K; Rifaat MM; Moustafa A
    East Mediterr Health J; 2001; 7(1-2):229-37. PubMed ID: 12596974
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 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. Application of DNA-based tests for diagnosis of spinal muscular atrophy in Saudi Arabia.
    al-Rajeh S; Majumdar R; Awada A; al-Jumah M
    East Mediterr Health J; 1999 Nov; 5(6):1225-9. PubMed ID: 11924116
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations.
    Clermont O; Burlet P; Benit P; Chanterau D; Saugier-Veber P; Munnich A; Cusin V
    Hum Mutat; 2004 Nov; 24(5):417-27. PubMed ID: 15459957
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. [Diagnostic progress in spinal muscular atrophy].
    Gergont A; Kaciński M; Steczkowska-Klucznik M
    Przegl Lek; 2001; 58(11):989-91. PubMed ID: 11987841
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [A molecular genetic analysis of spinal muscular atrophy (SMA) in families at high risk from different regions of Ukraine].
    Ekshiian AIu; Livshits LA; Bychkova AM; Afanas'eva NA; Bariliak IR
    Tsitol Genet; 1997; 31(6):75-81. PubMed ID: 9591348
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Phenotype-genotype correspondence in spinal muscular atrophy in a Moroccan family].
    They-They TP; Nadifi S; Dehbi H; Bellayou H; Brik H; Slassi I; Itri M
    Arch Pediatr; 2008 Jul; 15(7):1201-5. PubMed ID: 18538551
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients.
    Thompson TG; DiDonato CJ; Simard LR; Ingraham SE; Burghes AH; Crawford TO; Rochette C; Mendell JR; Wasmuth JJ
    Nat Genet; 1995 Jan; 9(1):56-62. PubMed ID: 7704025
    [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. NAIP-deletion analysis in Malaysian patients with spinal muscular atrophy.
    Watihayati MS; Zabidi AM; Tang TH; Nishio H; Zilfalil BA
    Kobe J Med Sci; 2007; 53(4):171-5. PubMed ID: 17932457
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3.
    Brzustowicz LM; Lehner T; Castilla LH; Penchaszadeh GK; Wilhelmsen KC; Daniels R; Davies KE; Leppert M; Ziter F; Wood D
    Nature; 1990 Apr; 344(6266):540-1. PubMed ID: 2320125
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Gene diagnosis for spinal muscular atrophy and its application study].
    Cao DH; Ren MH; Lin CK; Cui WT; Ma HW; Wu YY; Jin CL
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Jun; 26(3):306-9. PubMed ID: 19504445
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Autosomal recessive proximal spinal muscular atrophy in 101 sibs out of 48 families: clinical picture, influence of gender, and genetic implications.
    Rudnik-Schöneborn S; Röhrig D; Morgan G; Wirth B; Zerres K
    Am J Med Genet; 1994 May; 51(1):70-6. PubMed ID: 8030672
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Extensive DNA deletion associated with severe disease alleles on spinal muscular atrophy homologues.
    Wang CH; Carter TA; Das K; Xu J; Ross BM; Penchaszadeh GK; Gilliam TC
    Ann Neurol; 1997 Jul; 42(1):41-9. PubMed ID: 9225684
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.