메뉴 건너뛰기




Volumn 154, Issue 2, 2010, Pages 203-208

Introduction: Williams syndrome

Author keywords

Elastin; Supravalvar aortic stenosis; Williams syndrome; Williams Beuren syndrome

Indexed keywords

DNA POLYMORPHISM; GENE DELETION; GENE DUPLICATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PRIORITY JOURNAL; REVIEW; WILLIAMS BEUREN SYNDROME;

EID: 77951567594     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.30266     Document Type: Review
Times cited : (55)

References (52)
  • 3
    • 0002268771 scopus 로고
    • Supravalvular aortic stenosis: A complex syndrome with and without mental retardation
    • Beuren AJ. 1972. Supravalvular aortic stenosis: A complex syndrome with and without mental retardation. Birth Defects 8:45-56.
    • (1972) Birth Defects , vol.8 , pp. 45-56
    • Beuren, A.J.1
  • 4
    • 0001447853 scopus 로고
    • Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance
    • Beuren AJ, Apitz J, Harmjanz D. 1962. Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance. Circulation 27:1235-1240.
    • (1962) Circulation , vol.27 , pp. 1235-1240
    • Beuren, A.J.1    Apitz, J.2    Harmjanz, D.3
  • 5
    • 0001451071 scopus 로고
    • The syndrome of supravalvular aortic stenosis, peripheral pulmonic stenosis, mental retardation, and similar facial appearance
    • Beuren AJ, Schulze C, Eberle P, Harmjanz D, Apitz J. 1964. The syndrome of supravalvular aortic stenosis, peripheral pulmonic stenosis, mental retardation, and similar facial appearance. Am J Cardiol 13:471-482.
    • (1964) Am J Cardiol , vol.13 , pp. 471-482
    • Beuren, A.J.1    Schulze, C.2    Eberle, P.3    Harmjanz, D.4    Apitz, J.5
  • 6
    • 0001019721 scopus 로고
    • Association between aortic stenosis and facies of severe infantile hyercalcemia
    • Black JA, Carter REB. 1963. Association between aortic stenosis and facies of severe infantile hyercalcemia. Lancet 91:745-748.
    • (1963) Lancet , vol.91 , pp. 745-748
    • Black, J.A.1    Carter, R.E.B.2
  • 7
    • 58149288032 scopus 로고    scopus 로고
    • Congenital supravalvular aortic stenosi and sudden death associated with anesthesia: What's the mystery?
    • Burch TM, McGowan FX Jr, Kussman BD, Powell AJ, DiNardo JA. 2008. Congenital supravalvular aortic stenosi and sudden death associated with anesthesia: What's the mystery? Anesth Analg 107:1848-1854.
    • (2008) Anesth Analg , vol.107 , pp. 1848-1854
    • Burch, T.M.1    McGowan Jr., F.X.2    Kussman, B.D.3    Powell, A.J.4    DiNardo, J.A.5
  • 8
    • 0001227644 scopus 로고
    • Observations on the diseases of the orifice and valves of the aorta
    • Chevers N. 1842. Observations on the diseases of the orifice and valves of the aorta. Guys Hospital Rep 7:387-442.
    • (1842) Guys Hospital Rep , vol.7 , pp. 387-442
    • Chevers, N.1
  • 9
    • 77649191023 scopus 로고    scopus 로고
    • Long-term outcomes of patients with cardiovascular abnormalities and Williams syndrome
    • Collins RT, Kaplan P, Somes GW, Rome JJ. 2010. Long-term outcomes of patients with cardiovascular abnormalities and Williams syndrome. Am J Cardiol 105:874-878.
    • (2010) Am J Cardiol , vol.105 , pp. 874-878
    • Collins, R.T.1    Kaplan, P.2    Somes, G.W.3    Rome, J.J.4
  • 10
    • 0027403375 scopus 로고
    • The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis
    • DOI 10.1016/0092-8674(93)90168-P
    • Curran ME, Atkinson DL, Ewart AK, Morris CA, Leppert MF, Keating MT. 1993. the elastin gene is disrupted by a translocation associated wit supravalvular aortic stenosis. Cell 73:159-168. (Pubitemid 23115457)
    • (1993) Cell , vol.73 , Issue.1 , pp. 159-168
    • Curran, M.E.1    Atkinson, D.L.2    Ewart, A.K.3    Morris, C.A.4    Leppert, M.F.5    Keating, M.T.6
  • 12
    • 0029831686 scopus 로고    scopus 로고
    • Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome
    • Dutly F, Schinzel A. 1996. Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams- Beuren syndrome. Hum Mol Genet 5:1893-1898. (Pubitemid 26413631)
    • (1996) Human Molecular Genetics , vol.5 , Issue.12 , pp. 1893-1898
    • Dutly, F.1    Schinzel, A.2
  • 16
    • 77951348798 scopus 로고
    • Chronische Hypercalcaemie kombiniert mit Osteosklerose, Hyperazotaemie, Minderwuchs, und kongenitalen Missbildungen
    • Fanconi G, Giradet P, Schlesinger B, Butler N, Blade JS. 1952. Chronische Hypercalcaemie kombiniert mit Osteosklerose, Hyperazotaemie, Minderwuchs, und kongenitalen Missbildungen. Helv Paediatr Acta 7:314-334.
    • (1952) Helv Paediatr Acta , vol.7 , pp. 314-334
    • Fanconi, G.1    Giradet, P.2    Schlesinger, B.3    Butler, N.4    Blade, J.S.5
  • 17
    • 0013931781 scopus 로고
    • Vitamin D and the supravalvular aortic stenosis syndrome
    • Friedman W, Roberts W. 1966. Vitamin D and the supravalvular aortic stenosis syndrome. Circulation 34:77-86.
    • (1966) Circulation , vol.34 , pp. 77-86
    • Friedman, W.1    Roberts, W.2
  • 18
    • 34248174970 scopus 로고    scopus 로고
    • Evolution of Neurologic Features in Williams Syndrome
    • DOI 10.1016/j.pediatrneurol.2007.01.001, PII S0887899407000021
    • Gagliardi C, Martelli S, Burt MD, Borgatti R. 2007. Evolution of neurologic features in Williams syndrome. Pediatr Neurol 36:301-306. (Pubitemid 46726961)
    • (2007) Pediatric Neurology , vol.36 , Issue.5 , pp. 301-306
    • Gagliardi, C.1    Martelli, S.2    Burt, M.D.3    Borgatti, R.4
  • 19
  • 20
    • 58949083379 scopus 로고    scopus 로고
    • Sleep patterns and daytime sleepiness in adolescents and young adults with Williams syndrome
    • Goldman DE, Malow BA, Newman KD, Roof E, Dykens EM. 2009. Sleep patterns and daytime sleepiness in adolescents and young adults with Williams syndrome. J Intellect Disabil Res 53:182-188.
    • (2009) J Intellect Disabil Res , vol.53 , pp. 182-188
    • Goldman, D.E.1    Malow, B.A.2    Newman, K.D.3    Roof, E.4    Dykens, E.M.5
  • 21
    • 13144262719 scopus 로고
    • Observations concerning the evolution of the chronic form of idiopathic hypercalcemia of children
    • Hooft C, Vermassen A, Blancquaert A. 1963. Observations concerning the evolution of the chronic form of idiopathic hypercalcemia of children. Helv Paediat Acta 2:138-147.
    • (1963) Helv Paediat Acta , vol.2 , pp. 138-147
    • Hooft, C.1    Vermassen, A.2    Blancquaert, A.3
  • 22
    • 0016689490 scopus 로고
    • The Williams elfin facies syndrome
    • Jones KL, Smith DW. 1975. The Williams elfin facies syndrome. J Pediatr 86:718-723.
    • (1975) J Pediatr , vol.86 , pp. 718-723
    • Jones, K.L.1    Smith, D.W.2
  • 26
    • 0040286458 scopus 로고
    • Supravalvular aortic stenosis: Genetic and clinical Studies
    • abstract
    • Merritt DA, Palmar CG, Lurie PR, Petry EL. 1963. Supravalvular aortic stenosis: Genetic and clinical Studies (abstract). J Lab Clin Med 62:995.
    • (1963) J Lab Clin Med , vol.62 , pp. 995
    • Merritt, D.A.1    Palmar, C.G.2    Lurie, P.R.3    Petry, E.L.4
  • 27
    • 0002419239 scopus 로고    scopus 로고
    • Williams syndrome: Findings from an integrated program of research
    • Tager- Flusberg H, editor. Cambridge, MA: MIT Press
    • Mervis CB, Morris CA, Bertrand J, Robinson BF. 1999. Williams syndrome: Findings from an integrated program of research. In: Tager- Flusberg H, editor. Neurodevelopmental Disorders. Cambridge, MA: MIT Press.
    • (1999) Neurodevelopmental Disorders
    • Mervis, C.B.1    Morris, C.A.2    Bertrand, J.3    Robinson, B.F.4
  • 29
    • 81855216481 scopus 로고    scopus 로고
    • Williams syndrome
    • Cassidy SB, Allanson JE, editors. 3rd edition. Hoboken, NJ: Wiley
    • Morris CA. 2010.Williams syndrome. In: Cassidy SB, Allanson JE, editors. Management of genetic syndromes, 3rd edition. Hoboken, NJ: Wiley.
    • (2010) Management of Genetic Syndromes
    • Morris, C.A.1
  • 32
    • 0027292549 scopus 로고
    • Supravalvular aortic stenosis cosegregates with a familial 6;7 translocation which disrupts the elastin gene
    • Morris CA, Loker J, Ensing G, Stock AD. 1993a. Supravalvular aortic stenosis cosegregates with a familial 6:7 translocation which disrupts the elastin gene. Am J Med Genet 46:737-744. (Pubitemid 23208714)
    • (1993) American Journal of Medical Genetics , vol.46 , Issue.6 , pp. 737-744
    • Morris, C.A.1    Loker, J.2    Ensing, G.3    Stock, A.D.4
  • 35
    • 33745720230 scopus 로고    scopus 로고
    • Morris CA, Lenhoff HM, Wang PP, editors. Baltimore, MD: The Johns Hopkins University Press
    • Morris CA, Lenhoff HM, Wang PP, editors. 2006. Williams-Beuren syndrome, research, evaluation, and treatment. Baltimore, MD: The Johns Hopkins University Press.
    • (2006) Williams-Beuren Syndrome, Research, Evaluation, and Treatment
  • 36
    • 2442606543 scopus 로고    scopus 로고
    • Two pregnancies in a woman with Williams syndrome
    • Mulik VV, Temple KI, Howe DT. 2004. Two pregnancies in a woman with Williams syndrome. Br J Obstet Gynaecol 111:511-512.
    • (2004) Br J Obstet Gynaecol , vol.111 , pp. 511-512
    • Mulik, V.V.1    Temple, K.I.2    Howe, D.T.3
  • 37
    • 34250853976 scopus 로고    scopus 로고
    • Rearrangements of the Williams-Beuren syndrome locus: Molecular basis and implications for speech and language development
    • Osborne LR, Mervis CB. 2007. Rearrangements of the Williams-Beuren syndrome locus: Molecular basis and implications for speech and language development. Expert Rev Mol Med 9:1-16.
    • (2007) Expert Rev Mol Med , vol.9 , pp. 1-16
    • Osborne, L.R.1    Mervis, C.B.2
  • 39
    • 23344436674 scopus 로고    scopus 로고
    • Sigmoid diverticulitis in patients with Williams-Beuren syndrome: Relatively high prevalence and high complication rate in young adults with the syndrome
    • DOI 10.1002/ajmg.a.30865
    • Partsch CJ, Siebert R, Caliebe A, Gosch A,Wessel A, Pankau R. 2005. Sigmoid diverticulitis in patients with Williams-Beuren syndrome: Relatively high prevalence and high complication rate in young adults with the syndrome. Am J Med Genet Part A 137A:52-54. (Pubitemid 41105535)
    • (2005) American Journal of Medical Genetics , vol.137 A , Issue.1 , pp. 52-54
    • Partsch, C.J.1    Siebert, R.2    Caliebe, A.3    Gosch, A.4    Wessel, A.5    Pankau, R.6
  • 40
    • 74849117906 scopus 로고    scopus 로고
    • Williams-Beuren syndrome
    • Pober BR. 2010. Williams-Beuren syndrome. N Engl J Med 362:239-252.
    • (2010) N Engl J Med , vol.362 , pp. 239-252
    • Pober, B.R.1
  • 43
    • 33644596186 scopus 로고    scopus 로고
    • Voiding dysfunction and the Williams-Beuren syndrome: A clinical and urodynamic investigation
    • DOI 10.1016/S0022-5347(05)00666-X, PII S002253470500666X
    • Sammour ZM, Gomes CM, Duarte RJ, Trigo-Rocha FE, Srougi M. 2006. Voiding dysfunction and the Williams-Beuren syndrome: A clinical and urodynamic investigation. J Urol 175:1472-1476. (Pubitemid 43313045)
    • (2006) Journal of Urology , vol.175 , Issue.4 , pp. 1472-1476
    • Sammour, Z.M.1    Gomes, C.M.2    Duarte, R.J.3    Trigo-Rocha, F.E.4    Srougi, M.5
  • 44
    • 63449107365 scopus 로고    scopus 로고
    • The genomic basis of the Williams-Beuren syndrome
    • Schubert C. 2009. The genomic basis of the Williams-Beuren syndrome. Cell Mol Life Sci 66:1178-1197.
    • (2009) Cell Mol Life Sci , vol.66 , pp. 1178-1197
    • Schubert, C.1
  • 45
    • 59749098567 scopus 로고    scopus 로고
    • Emerging themes and new challenges in defining the role of structural variation in human disease
    • Sharp AJ. 2009. Emerging themes and new challenges in defining the role of structural variation in human disease. Hum Mutat 30:135-144.
    • (2009) Hum Mutat , vol.30 , pp. 135-144
    • Sharp, A.J.1
  • 47
    • 0039694614 scopus 로고
    • The pathogenesis of idiopathic hypercalcemia in infancy
    • Stapleton T, MacDonald WB, Lightwood R. 1957. The pathogenesis of idiopathic hypercalcemia in infancy. Am J Clin Nutr 5:533-542.
    • (1957) Am J Clin Nutr , vol.5 , pp. 533-542
    • Stapleton, T.1    MacDonald, W.B.2    Lightwood, R.3
  • 51
    • 76549147679 scopus 로고
    • Mental retardation related to hypercalcemia
    • Von Arnim G, Engel P. 1964. Mental retardation related to hypercalcemia. Dev Med Child Neurol 6:366-377.
    • (1964) Dev Med Child Neurol , vol.6 , pp. 366-377
    • Von Arnim, G.1    Engel, P.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.