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Journal Abstract Search

109 related items for PubMed ID: 29227713

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

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

  • 23. Eight patients with Williams syndrome and craniosynostosis.
    Ueda K, Yamada J, Takemoto O, Okamoto N.
    Eur J Med Genet; 2015 May; 58(6-7):355-7. PubMed ID: 26002408
    [Abstract] [Full Text] [Related]

  • 24. Elastin region deletions in Williams syndrome.
    Zhang J, Kumar A, Roux K, Williams CA, Wallace MR.
    Genet Test; 1999 May; 3(4):357-9. PubMed ID: 10627943
    [Abstract] [Full Text] [Related]

  • 25. Williams syndrome.
    Kozel BA, Barak B, Kim CA, Mervis CB, Osborne LR, Porter M, Pober BR.
    Nat Rev Dis Primers; 2021 Jun 17; 7(1):42. PubMed ID: 34140529
    [Abstract] [Full Text] [Related]

  • 26. Fatal cardiac dysfunction in a child with Williams syndrome.
    Kawai C, Kondo H, Miyao M, Sunada M, Ozawa S, Kotani H, Minami H, Nagai H, Abiru H, Yamamoto A, Tamaki K, Nishitani Y.
    Leg Med (Tokyo); 2024 Mar 17; 67():102387. PubMed ID: 38154310
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  • 28. [Clinical features of a senior patient with Williams syndrome].
    Nakaji A, Kawame Y, Nagai C, Iwata M.
    Rinsho Shinkeigaku; 2001 Sep 17; 41(9):592-8. PubMed ID: 11968743
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  • 31. Skin elastic fibers in Williams syndrome.
    Dridi SM, Ghomrasseni S, Bonnet D, Aggoun Y, Vabres P, Bodemer C, Lyonnet S, de Prost Y, Fraitag S, Pellat B, Sidi D, Godeau G.
    Am J Med Genet; 1999 Nov 19; 87(2):134-8. PubMed ID: 10533027
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  • 33. [Williams syndrome].
    Ohashi H.
    Nihon Rinsho; 2005 Jul 19; 63(7):1185-9. PubMed ID: 16001780
    [Abstract] [Full Text] [Related]

  • 34. Delay in diagnosis of Williams syndrome.
    Huang L, Sadler L, O'Riordan MA, Robin NH.
    Clin Pediatr (Phila); 2002 May 19; 41(4):257-61. PubMed ID: 12041723
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  • 36. Clinical phenotypes study of 231 children with Williams syndrome in China: A single-center retrospective study.
    Li FF, Chen WJ, Yao D, Xu L, Shen JY, Zeng Y, Shi Z, Ye XW, Kang DH, Xu B, Shao J, Ji C.
    Mol Genet Genomic Med; 2022 Dec 19; 10(12):e2069. PubMed ID: 36168091
    [Abstract] [Full Text] [Related]

  • 37. [Genetic diagnosis of Williams syndrome].
    Urbán Z, Kiss E, Kádár K, Szabolcs J, Csiszár K, Boyd DC, Fekete G.
    Orv Hetil; 1997 Jul 06; 138(27):1749-52. PubMed ID: 9273487
    [Abstract] [Full Text] [Related]

  • 38. Identification of Prostaglandin I2 Synthase Rare Variants in Patients With Williams Syndrome and Severe Peripheral Pulmonary Stenosis.
    Chida-Nagai A, Akagawa H, Sawai S, Ma YJ, Yakuwa S, Muneuchi J, Yasuda K, Yamazawa H, Yamamoto T, Takakuwa E, Tomaru U, Furutani Y, Kato T, Harada G, Inai K, Nakanishi T, Manabe A, Takeda A, Jing ZC.
    J Am Heart Assoc; 2024 May 07; 13(9):e032872. PubMed ID: 38639351
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  • 40. [Role of elastin in the development of vascular function. Knock-out study of the elastin gene in mice].
    Faury G.
    J Soc Biol; 2001 May 07; 195(2):151-6. PubMed ID: 11723827
    [Abstract] [Full Text] [Related]

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