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Journal Abstract Search

181 related items for PubMed ID: 23401415

  • 21.
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  • 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
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  • 23.
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  • 24. Novel mutations in the human elastin gene (ELN) causing isolated supravalvular aortic stenosis.
    Park S, Seo EJ, Yoo HW, Kim Y.
    Int J Mol Med; 2006 Aug; 18(2):329-32. PubMed ID: 16820942
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  • 25. Elastin-driven genetic diseases.
    Duque Lasio ML, Kozel BA.
    Matrix Biol; 2018 Oct; 71-72():144-160. PubMed ID: 29501665
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  • 26. Sudden Cardiac Arrest During a Sedated Cardiac Magnetic Resonance Study in a Nonsyndromic Child with Evolving Supravalvar Aortic Stenosis Due to Familial ELN Mutation.
    Markush D, Sanchez-Lara PA, Grand K, Wong R, Garg R.
    Pediatr Cardiol; 2023 Apr; 44(4):946-950. PubMed ID: 36790509
    [Abstract] [Full Text] [Related]

  • 27. Williams-Beuren syndrome: diagnosis by polymorphic markers.
    Sbruzzi IC, Pereira AC, Vasconcelos B, Honjo RS, Krieger JE, Kim CA.
    Genet Test Mol Biomarkers; 2010 Apr; 14(2):209-14. PubMed ID: 20136526
    [Abstract] [Full Text] [Related]

  • 28. Congenital heart disease: Molecular diagnostics of supravalvular aortic stenosis.
    Tassabehji M, Urban Z.
    Methods Mol Med; 2006 Apr; 126():129-56. PubMed ID: 16930010
    [Abstract] [Full Text] [Related]

  • 29. 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 Apr; 39(6):398-403. PubMed ID: 9926515
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  • 30. Williams-Beuren syndrome: computed tomography imaging review.
    Das KM, Momenah TS, Larsson SG, Jadoon S, Aldosary AS, Lee EY.
    Pediatr Cardiol; 2014 Dec; 35(8):1309-20. PubMed ID: 25139247
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  • 33. Investigation of deletions at 7q11.23 in 44 patients referred for Williams-Beuren syndrome, using FISH and four DNA polymorphisms.
    Brøndum-Nielsen K, Beck B, Gyftodimou J, Hørlyk H, Liljenberg U, Petersen MB, Pedersen W, Petersen MB, Sand A, Skovby F, Stafanger G, Zetterqvist P, Tommerup N.
    Hum Genet; 1997 Jan; 99(1):56-61. PubMed ID: 9003495
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  • 34.
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  • 35. Cardiovascular spectrum in Williams-Beuren syndrome: the Mexican experience in 40 patients.
    De Rubens Figueroa J, Rodríguez LM, Hach JL, Del Castillo Ruíz V, Martínez HO.
    Tex Heart Inst J; 2008 Jan; 35(3):279-85. PubMed ID: 18941598
    [Abstract] [Full Text] [Related]

  • 36. Novel ELN mutation in a Japanese family with a severe form of supravalvular aortic stenosis.
    Sugiyama K, Horigome H, Lin L, Murakami T, Shiono J, Yamashiro Y, Matsuura H, Yoda H, Yanagisawa H.
    Mol Genet Genomic Med; 2019 Nov; 7(11):e986. PubMed ID: 31560829
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  • 37.
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  • 39. Supravalvar aortic stenosis: current surgical approaches and outcomes.
    Deo SV, Burkhart HM, Dearani JA, Schaff HV.
    Expert Rev Cardiovasc Ther; 2013 Jul; 11(7):879-90. PubMed ID: 23895031
    [Abstract] [Full Text] [Related]

  • 40. 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]

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