BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

133 related articles for article (PubMed ID: 8601620)

  • 1. A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome.
    Barrientos A; Volpini V; Casademont J; Genís D; Manzanares JM; Ferrer I; Corral J; Cardellach F; Urbano-Márquez A; Estivill X; Nunes V
    J Clin Invest; 1996 Apr; 97(7):1570-6. PubMed ID: 8601620
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4.
    Polymeropoulos MH; Swift RG; Swift M
    Nat Genet; 1994 Sep; 8(1):95-7. PubMed ID: 7987399
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300).
    Rötig A; Cormier V; Chatelain P; Francois R; Saudubray JM; Rustin P; Munnich A
    J Clin Invest; 1993 Mar; 91(3):1095-8. PubMed ID: 8383698
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees.
    Gómez-Zaera M; Strom TM; Rodríguez B; Estivill X; Meitinger T; Nunes V
    Mol Genet Metab; 2001 Jan; 72(1):72-81. PubMed ID: 11161832
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome).
    Inoue H; Tanizawa Y; Wasson J; Behn P; Kalidas K; Bernal-Mizrachi E; Mueckler M; Marshall H; Donis-Keller H; Crock P; Rogers D; Mikuni M; Kumashiro H; Higashi K; Sobue G; Oka Y; Permutt MA
    Nat Genet; 1998 Oct; 20(2):143-8. PubMed ID: 9771706
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Study of the WFS1 gene and mitochondrial DNA in Spanish Wolfram syndrome families.
    Domènech E; Gómez-Zaera M; Nunes V
    Clin Genet; 2004 Jun; 65(6):463-9. PubMed ID: 15151504
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia.
    Moslemi AR; Melberg A; Holme E; Oldfors A
    Ann Neurol; 1996 Nov; 40(5):707-13. PubMed ID: 8957011
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The mitochondrial ND1 m.3337G>A mutation associated to multiple mitochondrial DNA deletions in a patient with Wolfram syndrome and cardiomyopathy.
    Mezghani N; Mnif M; Mkaouar-Rebai E; Kallel N; Salem IH; Charfi N; Abid M; Fakhfakh F
    Biochem Biophys Res Commun; 2011 Jul; 411(2):247-52. PubMed ID: 21723259
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q.
    El-Shanti H; Lidral AC; Jarrah N; Druhan L; Ajlouni K
    Am J Hum Genet; 2000 Apr; 66(4):1229-36. PubMed ID: 10739754
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Wolfram/DIDMOAD syndrome, a heterogenic and molecularly complex neurodegenerative disease.
    Domenech E; Gomez-Zaera M; Nunes V
    Pediatr Endocrinol Rev; 2006 Mar; 3(3):249-57. PubMed ID: 16639390
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Linkage of Wolfram syndrome to chromosome 4p16.1 and evidence for heterogeneity.
    Collier DA; Barrett TG; Curtis D; Macleod A; Arranz MJ; Maassen JA; Bundey S
    Am J Hum Genet; 1996 Oct; 59(4):855-63. PubMed ID: 8808601
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation.
    Zhang Q; Zulfiqar F; Riazuddin SA; Xiao X; Ahmad Z; Riazuddin S; Hejtmancik JF
    Mol Vis; 2004 Nov; 10():884-9. PubMed ID: 15570217
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutational analysis of the Wolfram syndrome gene in two families with chromosome 4p-linked bipolar affective disorder.
    Evans KL; Lawson D; Meitinger T; Blackwood DH; Porteous DJ
    Am J Med Genet; 2000 Apr; 96(2):158-60. PubMed ID: 10893488
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Wolfram syndrome: identification of a phenotypic and genotypic variant from Jordan.
    Ajlouni K; Jarrah N; El-Khateeb M; El-Zaheri M; El Shanti H; Lidral A
    Am J Med Genet; 2002 May; 115(1):61-5. PubMed ID: 12116178
    [TBL] [Abstract][Full Text] [Related]  

  • 15. SLEB3 in systemic lupus erythematosus (SLE) is strongly related to SLE families ascertained through neuropsychiatric manifestations.
    Nath SK; Kelly JA; Reid J; Lam T; Gray-McGuire C; Namjou B; Aston CE; Harley JB
    Hum Genet; 2002 Jul; 111(1):54-8. PubMed ID: 12136236
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Alport syndrome. Molecular genetic aspects.
    Hertz JM
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutation in the HPGD gene encoding NAD+ dependent 15-hydroxyprostaglandin dehydrogenase underlies isolated congenital nail clubbing (ICNC).
    Tariq M; Azeem Z; Ali G; Chishti MS; Ahmad W
    J Med Genet; 2009 Jan; 46(1):14-20. PubMed ID: 18805827
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes.
    Krakow D; Salazar D; Wilcox WR; Rimoin DL; Cohn DH
    Eur J Hum Genet; 2000 Aug; 8(8):645-8. PubMed ID: 10951528
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract.
    Cohen D; Bar-Yosef U; Levy J; Gradstein L; Belfair N; Ofir R; Joshua S; Lifshitz T; Carmi R; Birk OS
    Invest Ophthalmol Vis Sci; 2007 May; 48(5):2208-13. PubMed ID: 17460281
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families.
    Riazuddin SA; Zulfiqar F; Zhang Q; Sergeev YV; Qazi ZA; Husnain T; Caruso R; Riazuddin S; Sieving PA; Hejtmancik JF
    Invest Ophthalmol Vis Sci; 2005 Jul; 46(7):2264-70. PubMed ID: 15980210
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.