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Journal Abstract Search

198 related items for PubMed ID: 8132745

  • 21. [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
    [Abstract] [Full Text] [Related]

  • 22. Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis.
    Micale L, Turturo MG, Fusco C, Augello B, Jurado LA, Izzi C, Digilio MC, Milani D, Lapi E, Zelante L, Merla G.
    Eur J Hum Genet; 2010 Mar; 18(3):317-23. PubMed ID: 19844261
    [Abstract] [Full Text] [Related]

  • 23. Fetal Diagnosis of Supravalvular Aortic Stenosis and Pulmonary Stenosis in a Family with Non-Syndromic Elastin Mutation.
    Kiener A, Lantin MRL, Lawrence EJ, Morris SA, Sheth SS.
    Pediatr Cardiol; 2024 Jun; 45(5):1154-1156. PubMed ID: 38294523
    [Abstract] [Full Text] [Related]

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

  • 25. 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
    [Abstract] [Full Text] [Related]

  • 26. Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm.
    Jelsig AM, Urban Z, Hucthagowder V, Nissen H, Ousager LB.
    Eur J Med Genet; 2017 Feb; 60(2):110-113. PubMed ID: 27866049
    [Abstract] [Full Text] [Related]

  • 27. Genetic Diagnosis and the Severity of Cardiovascular Phenotype in Patients With Elastin Arteriopathy.
    Min S, Kinnear C, D'Alessandro LCA, Bouwmeester J, Yao R, Chiasson D, Keeley F, Mital S.
    Circ Genom Precis Med; 2020 Dec; 13(6):e002971. PubMed ID: 32960096
    [Abstract] [Full Text] [Related]

  • 28. Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes.
    Meng X, Lu X, Li Z, Green ED, Massa H, Trask BJ, Morris CA, Keating MT.
    Hum Genet; 1998 Nov; 103(5):590-9. PubMed ID: 9860302
    [Abstract] [Full Text] [Related]

  • 29. An investigation of voice quality in individuals with inherited elastin gene abnormalities.
    Watts CR, Awan SN, Marler JA.
    Clin Linguist Phon; 2008 Mar; 22(3):199-213. PubMed ID: 18307085
    [Abstract] [Full Text] [Related]

  • 30. [Role of elastin in the development of vascular function. Knock-out study of the elastin gene in mice].
    Faury G.
    J Soc Biol; 2001 Mar; 195(2):151-6. PubMed ID: 11723827
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  • 32. FISH analysis in both classical and atypical cases of Williams-Beuren syndrome.
    Hou JW, Wang JK, Wang TR.
    Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi; 1998 Mar; 39(6):398-403. PubMed ID: 9926515
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  • 35. Integrin β3 inhibition is a therapeutic strategy for supravalvular aortic stenosis.
    Misra A, Sheikh AQ, Kumar A, Luo J, Zhang J, Hinton RB, Smoot L, Kaplan P, Urban Z, Qyang Y, Tellides G, Greif DM.
    J Exp Med; 2016 Mar 07; 213(3):451-63. PubMed ID: 26858344
    [Abstract] [Full Text] [Related]

  • 36. Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin.
    Wu YQ, Sutton VR, Nickerson E, Lupski JR, Potocki L, Korenberg JR, Greenberg F, Tassabehji M, Shaffer LG.
    Am J Med Genet; 1998 Jun 16; 78(1):82-9. PubMed ID: 9637430
    [Abstract] [Full Text] [Related]

  • 37. Identification and characterization of novel elastin gene mutations in eleven families with supravalvular aortic stenosis.
    Zhou J, Wu Y, Xu X, Zhang Y, Zhang X, Chen H, Zhuang J, Chen J, Teng Y.
    Front Genet; 2022 Jun 16; 13():1059640. PubMed ID: 36518217
    [Abstract] [Full Text] [Related]

  • 38. JAGGED1/NOTCH3 activation promotes aortic hypermuscularization and stenosis in elastin deficiency.
    Dave JM, Chakraborty R, Ntokou A, Saito J, Saddouk FZ, Feng Z, Misra A, Tellides G, Riemer RK, Urban Z, Kinnear C, Ellis J, Mital S, Mecham R, Martin KA, Greif DM.
    J Clin Invest; 2022 Mar 01; 132(5):. PubMed ID: 34990407
    [Abstract] [Full Text] [Related]

  • 39. Multi-species sequence comparison reveals dynamic evolution of the elastin gene that has involved purifying selection and lineage-specific insertions/deletions.
    Piontkivska H, Zhang Y, Green ED, NISC Comparative Sequencing Program, Elnitski L.
    BMC Genomics; 2004 May 18; 5(1):31. PubMed ID: 15149554
    [Abstract] [Full Text] [Related]

  • 40. De Novo Elastin Assembly Alleviates Development of Supravalvular Aortic Stenosis-Brief Report.
    Ellis MW, Riaz M, Huang Y, Anderson CW, Hoareau M, Li X, Luo H, Lee S, Park J, Luo J, Batty LD, Huang Q, Lopez CA, Reinhardt DP, Tellides G, Qyang Y.
    Arterioscler Thromb Vasc Biol; 2024 Jul 18; 44(7):1674-1682. PubMed ID: 38752350
    [Abstract] [Full Text] [Related]

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