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 *

55 related articles for article (PubMed ID: 1632439)

  • 1. Two distinct mutations in a single dystrophin gene: chance occurrence or premutation?
    Laing NG; Layton MG; Johnsen RD; Chandler DC; Mears ME; Goldblatt J; Kakulas BA
    Am J Med Genet; 1992 Mar; 42(5):688-92. PubMed ID: 1632439
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Two distinct mutations in a single dystrophin gene: identification of an altered splice-site as the primary Becker muscular dystrophy mutation.
    Wilton SD; Johnsen RD; Pedretti JR; Laing NG
    Am J Med Genet; 1993 Jun; 46(5):563-9. PubMed ID: 8322822
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Restoration of half the normal dystrophin sequence in a double-deletion Duchenne muscular dystrophy family.
    Hoop RC; Russo LS; Riconda DL; Schwartz LS; Hoffman EP
    Am J Med Genet; 1994 Feb; 49(3):323-7. PubMed ID: 8209894
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Familial occurrence of Duchenne dystrophy through paternal lines in four families.
    Zatz M; Passos-Bueno MR; Rapaport D; Vainzof M
    Am J Med Genet; 1991 Jan; 38(1):80-4. PubMed ID: 1849353
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophin cDNA.
    Darras BT; Koenig M; Kunkel LM; Francke U
    Am J Med Genet; 1988 Mar; 29(3):713-26. PubMed ID: 2897793
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Characterization of deletions in the dystrophin gene giving mild phenotypes.
    Love DR; Flint TJ; Marsden RF; Bloomfield JF; Daniels RJ; Forrest SM; Gabrielli O; Giorgi P; Novelli G; Davies KE
    Am J Med Genet; 1990 Sep; 37(1):136-42. PubMed ID: 2240031
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Interrelationship between gene, its product and phenotype in Duchenne and Becker muscular dystrophy.
    Hausmanowa-Petrusewicz I; Zaremba J; Fidziańska A; Zimowski J; Bisko M; Badurska B; Fidziańska E; Lusakowska A; Borkowska J
    Acta Neurobiol Exp (Wars); 1993; 53(1):297-303. PubMed ID: 8317263
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Family study allows more optimistic prognosis and genetic counselling in a child with a deletion of exons 50-51 of the dystrophin gene].
    Lesca G; Testard H; Streichenberger N; Pelissier JF; Lestra C; Burel E; Jonveaux P; Michel-Calemard L
    Arch Pediatr; 2007 Mar; 14(3):262-5. PubMed ID: 17258443
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Clinical,manifestations of the myopathies due to deletions/mutations of the dystrophin gene].
    Bonilla E; Minetti C; Chang HW; Medori R; Cordone G; Di Mauro S
    Minerva Pediatr; 1991 Mar; 43(3):67-70. PubMed ID: 1870528
    [No Abstract]   [Full Text] [Related]  

  • 10. Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy family.
    Wilton SD; Chandler DC; Kakulas BA; Laing NG
    Hum Mutat; 1994; 3(2):133-40. PubMed ID: 8199594
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient.
    Prior TW; Papp AC; Snyder PJ; Burghes AH; Bartolo C; Sedra MS; Western LM; Mendell JR
    Nat Genet; 1993 Aug; 4(4):357-60. PubMed ID: 8401582
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Quadriceps myopathy as dystrophin-associated myopathy].
    von Mitzlaff HC; Liechti-Gallati S; Rösler KM; Burgunder JM
    Schweiz Med Wochenschr; 1993 Oct; 123(40):1865-9. PubMed ID: 8211039
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Point mutation screening for 16 exons of the dystrophin gene by multiplex single-strand conformation polymorphism analysis.
    Kneppers AL; Deutz-Terlouw PP; den Dunnen JT; van Ommen GJ; Bakker E
    Hum Mutat; 1995; 5(3):235-42. PubMed ID: 7599634
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Genotypic diagnosis of Duchenne and Becker muscular dystrophies].
    Tuffery-Giraud S; Chambert S; Demaille J; Claustres M
    Ann Biol Clin (Paris); 1999; 57(4):417-26. PubMed ID: 10432364
    [TBL] [Abstract][Full Text] [Related]  

  • 16. DMD and BMD in the same family due to distinct mutations.
    Morandi L; Mora M; Tedeschi S; Di Blasi C; Curcio C; De Leonardis P; Brugnoni R; Bernasconi P; Mantegazza R; Confalonieri V
    Am J Med Genet; 1995 Dec; 59(4):501-5. PubMed ID: 8585572
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Two long-living brothers of dystrophin-related muscular dystrophy with an in-frame deletion of exon 3 of the dystrophin gene--clinical features and diagnosis].
    Matsumura K; Imoto N
    Rinsho Shinkeigaku; 1991 Mar; 31(3):286-90. PubMed ID: 1893667
    [TBL] [Abstract][Full Text] [Related]  

  • 18. ERG phenotype of a dystrophin mutation in heterozygous female carriers of Duchenne muscular dystrophy.
    Fitzgerald KM; Cibis GW; Gettel AH; Rinaldi R; Harris DJ; White RA
    J Med Genet; 1999 Apr; 36(4):316-22. PubMed ID: 10227401
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Newly recognized exons induced by a splicing abnormality from an intronic mutation of the dystrophin gene resulting in Duchenne muscular dystrophy. Mutations in brief no. 213. Online.
    Ikezawa M; Nishino I; Goto Y; Miike T; Nonaka I
    Hum Mutat; 1999; 13(2):170. PubMed ID: 10094556
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Deletion screening of the Duchenne/Becker muscular dystrophy gene in Croatian population.
    Sertić J; Barisić N; Sostarko M; Brzović Z; Stavljenić-Rukavina A
    Coll Antropol; 1997 Jun; 21(1):151-6. PubMed ID: 9225508
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 3.