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 *

174 related articles for article (PubMed ID: 8362925)

  • 1. Supravalvular aortic stenosis cosegregates with a familial 6; 7 translocation which disrupts the elastin gene.
    Morris CA; Loker J; Ensing G; Stock AD
    Am J Med Genet; 1993 Jul; 46(6):737-44. PubMed ID: 8362925
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Genetic aspects of supravalvular aortic stenosis.
    Morris CA
    Curr Opin Cardiol; 1998 May; 13(3):214-9. PubMed ID: 9649945
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis.
    Curran ME; Atkinson DL; Ewart AK; Morris CA; Leppert MF; Keating MT
    Cell; 1993 Apr; 73(1):159-68. PubMed ID: 8096434
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Familial supravalvular aortic stenosis. Investigation in a family and review of the literature].
    Burnel P; Marçon F; Lucron H; Bosser G; Gilgenkrantz S; Jonveaux P; Chéry M; Worms AM
    Arch Mal Coeur Vaiss; 1997 May; 90(5):719-24. PubMed ID: 9295957
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The elastin gene is disrupted in a family with a balanced translocation t(7;16)(q11.23;q13) associated with a variable expression of the Williams-Beuren syndrome.
    Duba HC; Doll A; Neyer M; Erdel M; Mann C; Hammerer I; Utermann G; Grzeschik KH
    Eur J Hum Genet; 2002 Jun; 10(6):351-61. PubMed ID: 12080386
    [TBL] [Abstract][Full Text] [Related]  

  • 6. De novo 46,XX,t(6;7)(q27;q11;23) associated with severe cardiovascular manifestations characteristic of supravalvular aortic stenosis and Williams syndrome.
    von Dadelszen P; Chitayat D; Winsor EJ; Cohen H; MacDonald C; Taylor G; Rose T; Hornberger LK
    Am J Med Genet; 2000 Feb; 90(4):270-5. PubMed ID: 10710222
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Genetic diagnosis of Williams syndrome].
    Urbán Z; Kiss E; Kádár K; Szabolcs J; Csiszár K; Boyd DC; Fekete G
    Orv Hetil; 1997 Jul; 138(27):1749-52. PubMed ID: 9273487
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Elastin: mutational spectrum in supravalvular aortic stenosis.
    Metcalfe K; Rucka AK; Smoot L; Hofstadler G; Tuzler G; McKeown P; Siu V; Rauch A; Dean J; Dennis N; Ellis I; Reardon W; Cytrynbaum C; Osborne L; Yates JR; Read AP; Donnai D; Tassabehji M
    Eur J Hum Genet; 2000 Dec; 8(12):955-63. PubMed ID: 11175284
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Elastin mutation and cardiac disease.
    Chowdhury T; Reardon W
    Pediatr Cardiol; 1999; 20(2):103-7. PubMed ID: 9986885
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Autosomal dominant supravalvular aortic stenosis: localization to chromosome 7.
    Olson TM; Michels VV; Lindor NM; Pastores GM; Weber JL; Schaid DJ; Driscoll DJ; Feldt RH; Thibodeau SN
    Hum Mol Genet; 1993 Jul; 2(7):869-73. PubMed ID: 8364568
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene.
    Ewart AK; Jin W; Atkinson D; Morris CA; Keating MT
    J Clin Invest; 1994 Mar; 93(3):1071-7. PubMed ID: 8132745
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Genetic approaches to cardiovascular disease. Supravalvular aortic stenosis, Williams syndrome, and long-QT syndrome.
    Keating MT
    Circulation; 1995 Jul; 92(1):142-7. PubMed ID: 7788908
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.
    Ewart AK; Morris CA; Atkinson D; Jin W; Sternes K; Spallone P; Stock AD; Leppert M; Keating MT
    Nat Genet; 1993 Sep; 5(1):11-6. PubMed ID: 7693128
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Elastin mutation screening in a group of patients affected by vascular abnormalities.
    Rodriguez-Revenga L; Badenas C; Carrió A; Milà M
    Pediatr Cardiol; 2005; 26(6):827-31. PubMed ID: 15990952
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis.
    Tassabehji M; Metcalfe K; Donnai D; Hurst J; Reardon W; Burch M; Read AP
    Hum Mol Genet; 1997 Jul; 6(7):1029-36. PubMed ID: 9215671
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis.
    Li DY; Toland AE; Boak BB; Atkinson DL; Ensing GJ; Morris CA; Keating MT
    Hum Mol Genet; 1997 Jul; 6(7):1021-8. PubMed ID: 9215670
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Frequent intragenic microdeletions of elastin in familial supravalvular aortic stenosis.
    Hayano S; Okuno Y; Tsutsumi M; Inagaki H; Fukasawa Y; Kurahashi H; Kojima S; Takahashi Y; Kato T
    Int J Cardiol; 2019 Jan; 274():290-295. PubMed ID: 30228022
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Fluorescent in situ hybridisation (FISH) for hemizygous deletion at the elastin locus in patients with isolated supravalvular aortic stenosis.
    Fryssira H; Palmer R; Hallidie-Smith KA; Taylor J; Donnai D; Reardon W
    J Med Genet; 1997 Apr; 34(4):306-8. PubMed ID: 9138154
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Concurrence of supravalvular aortic stenosis and peripheral pulmonary stenosis in three generations of a family: a form of arterial dysplasia.
    Kumar A; Stalker HJ; Williams CA
    Am J Med Genet; 1993 Mar; 45(6):739-42. PubMed ID: 8456853
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Confirmation of linkage of supravalvular aortic stenosis to the elastin gene on chromosome 7q.
    Kumar A; Olson TM; Thibodeau SN; Michels VV; Schaid DJ; Wallace MR
    Am J Cardiol; 1994 Dec; 74(12):1281-3. PubMed ID: 7977109
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 9.