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 *

336 related articles for article (PubMed ID: 8863162)

  • 1. Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.
    Redonnet-Vernhet I; Ploos van Amstel JK; Jansen RP; Wevers RA; Salvayre R; Levade T
    J Med Genet; 1996 Aug; 33(8):682-8. PubMed ID: 8863162
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Additional case of female monozygotic twins discordant for the clinical manifestations of Duchenne muscular dystrophy due to opposite X-chromosome inactivation.
    Abbadi N; Philippe C; Chery M; Gilgenkrantz H; Tome F; Collin H; Theau D; Recan D; Broux O; Fardeau M
    Am J Med Genet; 1994 Aug; 52(2):198-206. PubMed ID: 7802009
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Female monozygotic twins discordant for hemophilia A due to nonrandom X-chromosome inactivation.
    Bennett CM; Boye E; Neufeld EJ
    Am J Hematol; 2008 Oct; 83(10):778-80. PubMed ID: 18645989
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Non-random X chromosome inactivation in an affected twin in a monozygotic twin pair discordant for Wiedemann-Beckwith syndrome.
    Orstavik RE; Tommerup N; Eiklid K; Orstavik KH
    Am J Med Genet; 1995 Mar; 56(2):210-4. PubMed ID: 7625447
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Identification of four novel mutations in five unrelated Korean families with Fabry disease.
    Lee JK; Kim GH; Kim JS; Kim KK; Lee MC; Yoo HW
    Clin Genet; 2000 Sep; 58(3):228-33. PubMed ID: 11076046
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Recurrence of Fabry disease as a result of paternal germline mosaicism for alpha-galactosidase a gene mutation.
    Dobrovolný R; Dvoráková L; Ledvinová J; Magage S; Bultas J; Lubanda JC; Poupetová H; Elleder M; Karetová D; Hrebícek M
    Am J Med Genet A; 2005 Apr; 134A(1):84-7. PubMed ID: 15712198
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The severe clinical phenotype for a heterozygous Fabry female patient correlates to the methylation of non-mutated allele associated with chromosome 10q26 deletion syndrome.
    Hossain MA; Yanagisawa H; Miyajima T; Wu C; Takamura A; Akiyama K; Itagaki R; Eto K; Iwamoto T; Yokoi T; Kurosawa K; Numabe H; Eto Y
    Mol Genet Metab; 2017 Mar; 120(3):173-179. PubMed ID: 28087245
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Fabry disease in female monozygotic twins with complex intronic haplotype variants: a case report.
    Choi HS; Kwon OI; Kim SS; Cho JY; Bae EH; Ma SK; Kim SW; Kim CS
    BMC Med Genomics; 2024 Oct; 17(1):245. PubMed ID: 39375654
    [TBL] [Abstract][Full Text] [Related]  

  • 9. X chromosome inactivation patterns correlate with fetal-placental anatomy in monozygotic twin pairs: implications for immune relatedness and concordance for autoimmunity.
    Trejo V; Derom C; Vlietinck R; Ollier W; Silman A; Ebers G; Derom R; Gregersen PK
    Mol Med; 1994 Nov; 1(1):62-70. PubMed ID: 8790602
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Different patterns of X inactivation in MZ twins discordant for red-green color-vision deficiency.
    Jørgensen AL; Philip J; Raskind WH; Matsushita M; Christensen B; Dreyer V; Motulsky AG
    Am J Hum Genet; 1992 Aug; 51(2):291-8. PubMed ID: 1642230
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.
    Germain DP; Poenaru L
    Biochem Biophys Res Commun; 1999 Apr; 257(3):708-13. PubMed ID: 10208848
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Discordance of muscular dystrophy in monozygotic female twins: evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophy.
    Lupski JR; Garcia CA; Zoghbi HY; Hoffman EP; Fenwick RG
    Am J Med Genet; 1991 Sep; 40(3):354-64. PubMed ID: 1683155
    [TBL] [Abstract][Full Text] [Related]  

  • 13. X-chromosome inactivation in monozygotic twins with systemic lupus erythematosus.
    Huang Q; Parfitt A; Grennan DM; Manolios N
    Autoimmunity; 1997; 26(2):85-93. PubMed ID: 9546817
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Oligosymptomatic cornea verticillata in a heterozygote for Fabry disease: a novel mutation in the alpha-galactosidase gene.
    Kono JO; Podskarbi T; Shin Y; Lanzl I
    Cornea; 2003 Mar; 22(2):175-7. PubMed ID: 12605057
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Point mutation in the alpha-galactosidase A gene of atypical Fabry disease with only nephropathy.
    Sawada K; Mizoguchi K; Hishida A; Kaneko E; Koide Y; Nishimura K; Kimura M
    Clin Nephrol; 1996 May; 45(5):289-94. PubMed ID: 8738659
    [TBL] [Abstract][Full Text] [Related]  

  • 16. X-inactivation patterns in monozygotic and dizygotic female twins.
    Goodship J; Carter J; Burn J
    Am J Med Genet; 1996 Jan; 61(3):205-8. PubMed ID: 8741864
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Monozygotic twins clinically discordant for scleroderma show concordance for fibroblast gene expression profiles.
    Zhou X; Tan FK; Xiong M; Arnett FC; Feghali-Bostwick CA
    Arthritis Rheum; 2005 Oct; 52(10):3305-14. PubMed ID: 16200604
    [TBL] [Abstract][Full Text] [Related]  

  • 18. X-inactivation in Fabry disease.
    Elstein D; Schachamorov E; Beeri R; Altarescu G
    Gene; 2012 Sep; 505(2):266-8. PubMed ID: 22710134
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The role of different X-inactivation pattern on the variable clinical phenotype with Rett syndrome.
    Ishii T; Makita Y; Ogawa A; Amamiya S; Yamamoto M; Miyamoto A; Oki J
    Brain Dev; 2001 Dec; 23 Suppl 1():S161-4. PubMed ID: 11738865
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy.
    Richards CS; Watkins SC; Hoffman EP; Schneider NR; Milsark IW; Katz KS; Cook JD; Kunkel LM; Cortada JM
    Am J Hum Genet; 1990 Apr; 46(4):672-81. PubMed ID: 2180286
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.