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 *

66 related articles for article (PubMed ID: 10627134)

  • 1. Two novel mutations (10410 T-->G; 10296 del C) at carboxy-terminus of the dystrophin gene associated with mental retardation. Mutations in brief no. 149. Online.
    Cau M; Cao A; Loi D; Puddu A; Muntoni F; Mateddu A; Melis MA
    Hum Mutat; 1998; 12(1):70. PubMed ID: 10627134
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Protein truncation test: analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation.
    Tuffery S; Lenk U; Roberts RG; Coubes C; Demaille J; Claustres M
    Hum Mutat; 1995; 6(2):126-35. PubMed ID: 7581396
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification of three novel mutations in the dystrophin gene detected by the heteroduplex/SSCA screening procedure. Mutations in brief no. 222. Online.
    Dubourg C; Odent S; Fergelot P; Le Gall JY; David V; Blayau M
    Hum Mutat; 1999; 13(2):173. PubMed ID: 10094565
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Novel mutations of dystrophin gene in DMD patients detected by rapid scanning in biplex exons DHPLC analysis.
    Muscarella LA; Piemontese MR; Barbano R; Fazio A; Guarnieri V; Quattrone A; Zelante L
    Biomol Eng; 2007 Jun; 24(2):231-6. PubMed ID: 17145200
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Screening for minor changes in the distal part of the human dystrophin gene in Greek DMD/BMD patients.
    Kekou K; Mavrou A; Florentin L; Youroukos S; Zafiriou DI; Skouteli HN; Metaxotou C
    Eur J Hum Genet; 1999; 7(2):179-87. PubMed ID: 10196701
    [TBL] [Abstract][Full Text] [Related]  

  • 6. DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy.
    Gurvich OL; Tuohy TM; Howard MT; Finkel RS; Medne L; Anderson CB; Weiss RB; Wilton SD; Flanigan KM
    Ann Neurol; 2008 Jan; 63(1):81-9. PubMed ID: 18059005
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Dystrophin gene analysis in Hungarian Duchenne/Becker muscular dystrophy families - detection of carrier status in symptomatic and asymptomatic female relatives.
    Pikó H; Vancsó V; Nagy B; Bán Z; Herczegfalvi A; Karcagi V
    Neuromuscul Disord; 2009 Feb; 19(2):108-12. PubMed ID: 19084397
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy.
    Tuffery-Giraud S; Saquet C; Chambert S; Claustres M
    Hum Mutat; 2003 Jun; 21(6):608-14. PubMed ID: 12754707
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Induced dystrophin exon skipping in human muscle explants.
    McClorey G; Fall AM; Moulton HM; Iversen PL; Rasko JE; Ryan M; Fletcher S; Wilton SD
    Neuromuscul Disord; 2006 Oct; 16(9-10):583-90. PubMed ID: 16919955
    [TBL] [Abstract][Full Text] [Related]  

  • 10. MLPA analysis/complete sequencing of the DMD gene in a group of Bulgarian Duchenne/Becker muscular dystrophy patients.
    Todorova A; Todorov T; Georgieva B; Lukova M; Guergueltcheva V; Kremensky I; Mitev V
    Neuromuscul Disord; 2008 Aug; 18(8):667-70. PubMed ID: 18653336
    [TBL] [Abstract][Full Text] [Related]  

  • 11. DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients.
    Hofstra RM; Mulder IM; Vossen R; de Koning-Gans PA; Kraak M; Ginjaar IB; van der Hout AH; Bakker E; Buys CH; van Ommen GJ; van Essen AJ; den Dunnen JT
    Hum Mutat; 2004 Jan; 23(1):57-66. PubMed ID: 14695533
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene.
    Deburgrave N; Daoud F; Llense S; Barbot JC; Récan D; Peccate C; Burghes AH; Béroud C; Garcia L; Kaplan JC; Chelly J; Leturcq F
    Hum Mutat; 2007 Feb; 28(2):183-95. PubMed ID: 17041906
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation.
    Lesca G; Bernard V; Bozon M; Touraine R; Gérard D; Edery P; Calender A
    Eur J Med Genet; 2007; 50(3):200-8. PubMed ID: 17383248
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.
    Tuffery-Giraud S; Béroud C; Leturcq F; Yaou RB; Hamroun D; Michel-Calemard L; Moizard MP; Bernard R; Cossée M; Boisseau P; Blayau M; Creveaux I; Guiochon-Mantel A; de Martinville B; Philippe C; Monnier N; Bieth E; Khau Van Kien P; Desmet FO; Humbertclaude V; Kaplan JC; Chelly J; Claustres M
    Hum Mutat; 2009 Jun; 30(6):934-45. PubMed ID: 19367636
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Detection of micro mutation in dystrophin gene of DMD female carrier].
    Miyamoto A; Taguchi K; Hieda S; Kawamura M; Fukuchi K; Gomi K
    Rinsho Byori; 2004 Jun; 52(6):493-9. PubMed ID: 15283161
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The A140V mutation in the MECP2 gene is not a common etiological factor among Brazilian mentally retarded males.
    dos Santos JM; Abdalla CB; Campos M; Santos-Rebouças CB; Pimentel MM
    Neurosci Lett; 2005 Apr; 379(1):13-6. PubMed ID: 15814190
    [TBL] [Abstract][Full Text] [Related]  

  • 17. New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation.
    Yanagisawa A; Bouchet C; Van den Bergh PY; Cuisset JM; Viollet L; Leturcq F; Romero NB; Quijano-Roy S; Fardeau M; Seta N; Guicheney P
    Neurology; 2007 Sep; 69(12):1254-60. PubMed ID: 17634419
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Identification of disease-causing point mutations in DMD patients' dystrophin gene without large deletions/duplications].
    Shen BC; Zhang C; Chen SL; Sun XF; Li SY; Yao XL; Wang SH; Lu XL
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Aug; 23(4):392-6. PubMed ID: 16883524
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [The molecular genetic nature of the mutations responsible for the development in Ukraine of more widely spread forms of neuromuscular pathology and mental retardation with a monogenic nature of the heredity].
    Livshits LA
    Tsitol Genet; 1998; 32(1):3-8. PubMed ID: 9695245
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Deletion mutations in the dystrophin gene of Saudi patients with Duchenne and Becker muscular dystrophy.
    Al-Jumah M; Majumdar R; Al-Rajeh S; Chaves-Carballo E; Salih MM; Awada A; Al-Shahwan S; Al-Uthaim S
    Saudi Med J; 2002 Dec; 23(12):1478-82. PubMed ID: 12518196
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 4.