메뉴 건너뛰기




Volumn 26, Issue 2, 2000, Pages 244-253

Linee guida per la sindrome di Williams

Author keywords

[No Author keywords available]

Indexed keywords


EID: 26944454990     PISSN: 03925161     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (4)

References (42)
  • 1
    • 84990742317 scopus 로고    scopus 로고
    • Siipravalvular aortic stenosis: a complex syndrome with and without mental retardation. 1972;Vlll(5):45-56.
    • Beuren AJ. Siipravalvular aortic stenosis: a complex syndrome with and without mental retardation. Birth Defects Original Article Series 1972;Vlll(5):45-56.
    • Birth Defects Original Article Series
    • Beuren, A.J.1
  • 2
    • 85119461723 scopus 로고    scopus 로고
    • Billman GF, Lacro RV, Spicer RL, Jariwala LK, Hoyme HE, et al. Sudden death in Williams syndrome. 1996; 129:926-931.
    • Bird LM, Billman GF, Lacro RV, Spicer RL, Jariwala LK, Hoyme HE, et al. Sudden death in Williams syndrome. JPediat 1996; 129:926-931.
    • JPediat
    • Bird, L.M.1
  • 3
    • 0032999601 scopus 로고    scopus 로고
    • Novelli G, Mari A, Novelli A, Sabani M, Korenberg J, et al. Detection of an atypical 7qll.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes. 1999;36:478-480.
    • Botta A, Novelli G, Mari A, Novelli A, Sabani M, Korenberg J, et al. Detection of an atypical 7qll.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes. J Med Genet 1999;36:478-480.
    • J Med Genet
    • Botta, A.1
  • 4
    • 0022521057 scopus 로고    scopus 로고
    • Williams syndrome. 1986;23:389-395.
    • Burn J. Williams syndrome. J Med Genet 1986;23:389-395.
    • J Med Genet
    • Burn, J.1
  • 5
    • 84866966385 scopus 로고    scopus 로고
    • Qeyras A, Capirci O, Digilio MC, Vicari S, Giannotti A, et al. Identiβcazione e caratterizzazione della sindrome di Williams. 1997;97/20.
    • Calamandrei G, Qeyras A, Capirci O, Digilio MC, Vicari S, Giannotti A, et al. Identiβcazione e caratterizzazione della sindrome di Williams. ISS, Rapporti ISTISAN 1997;97/20.
    • ISS, Rapporti ISTISAN
    • Calamandrei, G.1
  • 6
    • 0030070557 scopus 로고    scopus 로고
    • du Plessis A, Pober BR. Neurologic findings in children and adults with Williams syndrome. 1996;11:63-65.
    • Chapman ÇA, du Plessis A, Pober BR. Neurologic findings in children and adults with Williams syndrome. J Child Neurol 1996;11:63-65.
    • J Child Neurol
    • Chapman, Ç.A.1
  • 7
    • 0018934205 scopus 로고    scopus 로고
    • Taysi K, Hartmann AF. Familial Williams syndrome. 1980:18:173-176.
    • Cortada X, Taysi K, Hartmann AF. Familial Williams syndrome. Clin Genet 1980:18:173-176.
    • Clin Genet
    • Cortada, X.1
  • 8
    • 0029831686 scopus 로고    scopus 로고
    • Schinzel A. Unequal interchromosomal rearrangements may results in elastin gene deletions causing the Williams-Beuren syndrome. 1996;5:1893-1898.
    • Dutly F, Schinzel A. Unequal interchromosomal rearrangements may results in elastin gene deletions causing the Williams-Beuren syndrome. Hum Mol Genet 1996;5:1893-1898.
    • Hum Mol Genet
    • Dutly, F.1
  • 9
    • 0027185655 scopus 로고    scopus 로고
    • Morris CA, Atkinson D, Jin W, Sternes K, Spallone P, étal. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. 1993;5:11-16.
    • Ewart AK, Morris CA, Atkinson D, Jin W, Sternes K, Spallone P, étal. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet 1993;5:11-16.
    • Nat Genet
    • Ewart, A.K.1
  • 10
    • 77951348798 scopus 로고    scopus 로고
    • Girardet P, Schlesinger H, Butler N, Black JA. Chronische Hypercalcaemie, kombiniert mit Osteosklemse, Hyperazotemie, Mindermtchs und kongenitalen Missbildungen. 1952;7:314-334.
    • Fanconi G, Girardet P, Schlesinger H, Butler N, Black JA. Chronische Hypercalcaemie, kombiniert mit Osteosklemse, Hyperazotemie, Mindermtchs und kongenitalen Missbildungen. HelvPaedActa 1952;7:314-334.
    • HelvPaedActa
    • Fanconi, G.1
  • 11
    • 0032837598 scopus 로고    scopus 로고
    • Williams-Beuren syndrome: genes and mechanisms. 1999:8:1947-1954.
    • Francke U. Williams-Beuren syndrome: genes and mechanisms. Hum Mol Genet 1999:8:1947-1954.
    • Hum Mol Genet
    • Francke, U.1
  • 12
    • 15844375659 scopus 로고    scopus 로고
    • Ewart AK, Morris CA, Mervis CB, Bertrand J, Robinson BF, et al. UM-klnasel hemizygosity implicated in impaired visuospatial constructive cognition. 1996:86:59-69.
    • Frangiskakis JM, Ewart AK, Morris CA, Mervis CB, Bertrand J, Robinson BF, et al. UM-klnasel hemizygosity implicated in impaired visuospatial constructive cognition. Cell 1996:86:59-69.
    • Cell
    • Frangiskakis, J.M.1
  • 14
    • 0024206463 scopus 로고    scopus 로고
    • Lewis RA. The Williams syndrome: spectrum and significance of ocular features. 1988;95:1608-1612.
    • Greenberg F, Lewis RA. The Williams syndrome: spectrum and significance of ocular features. Ophthalmol 1988;95:1608-1612.
    • Ophthalmol
    • Greenberg, F.1
  • 16
    • 0023939477 scopus 로고    scopus 로고
    • Karas S. Cardiac anomalies in Williams-Benren syndrome. 1988;63:809-813.
    • Hallidie-Smith KA, Karas S. Cardiac anomalies in Williams-Benren syndrome. Arch Dis Child 1988;63:809-813.
    • Arch Dis Child
    • Hallidie-Smith, K.A.1
  • 17
    • 0024394272 scopus 로고    scopus 로고
    • Kirschner M, Watters G, Costa T. Contractures in patients with Williams syndrome. 1989;84:895-899.
    • Kaplan P, Kirschner M, Watters G, Costa T. Contractures in patients with Williams syndrome. Pediatr 1989;84:895-899.
    • Pediatr
    • Kaplan, P.1
  • 18
    • 85120518029 scopus 로고    scopus 로고
    • Maurice M, McGillivray B, Friedman JM. Williams syndrome in adults. 1992;44:720-729.
    • Lopez-Rangel E, Maurice M, McGillivray B, Friedman JM. Williams syndrome in adults. Am J Med Genêt 1992;44:720-729.
    • Am J Med Genêt
    • Lopez-Rangel, E.1
  • 19
    • 85177017153 scopus 로고    scopus 로고
    • Morris ÇA, Ewart A, Brothman LJ, Zhu XL, Léonard CO, et al. Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients. 1995;57:49-53.
    • Lowery M, Morris ÇA, Ewart A, Brothman LJ, Zhu XL, Léonard CO, et al. Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients. Am J Med Genet 1995;57:49-53.
    • Am J Med Genet
    • Lowery, M.1
  • 20
    • 0029130680 scopus 로고    scopus 로고
    • Amati F, Mingarelli R, Giannotti A, Sebastio G, Colloridi V, et al. Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome. 1995;96:444-448.
    • Mari A, Amati F, Mingarelli R, Giannotti A, Sebastio G, Colloridi V, et al. Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome. Hum Genet 1995;96:444-448.
    • Hum Genet
    • Mari, A.1
  • 21
    • 0023688145 scopus 로고    scopus 로고
    • Dilts C, Dempsey SA, Leonard CO, Blackburn B. The natural history of Williams syndrome: physical characteristics. 1988;113:318-326.
    • Morris CA, Dilts C, Dempsey SA, Leonard CO, Blackburn B. The natural history of Williams syndrome: physical characteristics. JPediat 1988;113:318-326.
    • JPediat
    • Morris, C.A.1
  • 22
    • 0025093815 scopus 로고    scopus 로고
    • Leonard CO, Dilts C, Demsey SA. Adults with Williams syndrome. 1990;Suppl 6:102-107.
    • Morris CA, Leonard CO, Dilts C, Demsey SA. Adults with Williams syndrome. Am J Med Genet 1990;Suppl 6:102-107.
    • Am J Med Genet
    • Morris, C.A.1
  • 23
    • 85120509833 scopus 로고    scopus 로고
    • Thomas IT, Greenberg F. Williams syndrome: aiitosoinal dominant inheritance. 1993;47:478-481.
    • Morris CA, Thomas IT, Greenberg F. Williams syndrome: aiitosoinal dominant inheritance. Am J Med Genet 1993;47:478-481.
    • Am J Med Genet
    • Morris, C.A.1
  • 24
    • 0030249984 scopus 로고    scopus 로고
    • Martindale D, Scherer SW, Shi XM, Huizenga J, Heng HQ, et al. Identification of genes from a 500 Kb region at 7qll.23 that is commonly deleted in Williams syndrome patients. 1996;36:328-336.
    • Osborne LR, Martindale D, Scherer SW, Shi XM, Huizenga J, Heng HQ, et al. Identification of genes from a 500 Kb region at 7qll.23 that is commonly deleted in Williams syndrome patients. Genomics 1996;36:328-336.
    • Genomics
    • Osborne, L.R.1
  • 25
    • 85032591716 scopus 로고    scopus 로고
    • Soder S, Shi XM, Pober B, Costa T, Scherer SW, et al. Hemizygous deletion of the syntaxin 1A gene in individuals with Williams syndrome. 1997;61:444-448.
    • Osborne LR, Soder S, Shi XM, Pober B, Costa T, Scherer SW, et al. Hemizygous deletion of the syntaxin 1A gene in individuals with Williams syndrome. Am J Hum Genet 1997;61:444-448.
    • Am J Hum Genet
    • Osborne, L.R.1
  • 26
    • 0029931944 scopus 로고    scopus 로고
    • Partsch CJ, Winter M, Gösch A, Wessel A. Incidence and spectrum of renal abnormalities in Williams-Beuren syndrome. 1996;63:301-304.
    • Pankau R, Partsch CJ, Winter M, Gösch A, Wessel A. Incidence and spectrum of renal abnormalities in Williams-Beuren syndrome. Am J Med Genet 1996;63:301-304.
    • Am J Med Genet
    • Pankau, R.1
  • 27
    • 0029948577 scopus 로고    scopus 로고
    • Pérez-Jurado LA, Wang YK, Kaplan P, Francke U. The gene for replication factor C subiinit 2 (RFC2) is within the 7qll.23 Williams syndrome deletion. 1996;58:1370-1373.
    • Peoples R, Pérez-Jurado LA, Wang YK, Kaplan P, Francke U. The gene for replication factor C subiinit 2 (RFC2) is within the 7qll.23 Williams syndrome deletion. Am J Hum Genet 1996;58:1370-1373.
    • Am J Hum Genet
    • Peoples, R.1
  • 28
    • 0031886974 scopus 로고    scopus 로고
    • Wang YK, Peoples R, Coloma A, Cruces J, Francke U. A duplicated gene in the breakpoint regions of the 7q11.23 Williains-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK.
    • Perez-Jurado LA, Wang YK, Peoples R, Coloma A, Cruces J, Francke U. A duplicated gene in the breakpoint regions of the 7q11.23 Williains-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK. Hum Mol Genet 7:325-334.
    • Hum Mol Genet 7:325-334.
    • Perez-Jurado, L.A.1
  • 30
    • 0028942218 scopus 로고    scopus 로고
    • Filiano JJ. Association of Chiari I malformation and Williams syndrome. 1995;12:84-88.
    • Pober BR, Filiano JJ. Association of Chiari I malformation and Williams syndrome. PediatNeurol 1995;12:84-88.
    • PediatNeurol
    • Pober, B.R.1
  • 31
    • 85120510223 scopus 로고    scopus 로고
    • Lacro RV, Rice C, Mandell V, Teele RL. Renal findings in 40 individuals with Williams syndrome. 1993;46:271-274.
    • Pober BR, Lacro RV, Rice C, Mandell V, Teele RL. Renal findings in 40 individuals with Williams syndrome. Am J Med Genet 1993;46:271-274.
    • Am J Med Genet
    • Pober, B.R.1
  • 32
    • 85120515219 scopus 로고    scopus 로고
    • Robinson LK, Verdaasdonk KR, Gingell R. The Williams syndrome: evidence for possible autosomal dominant inheritance. 1993;47:468-470.
    • Sadler LS, Robinson LK, Verdaasdonk KR, Gingell R. The Williams syndrome: evidence for possible autosomal dominant inheritance. Am J Med Genet 1993;47:468-470.
    • Am J Med Genet
    • Sadler, L.S.1
  • 33
    • 0033366703 scopus 로고    scopus 로고
    • Metcalfe K, Karmiloff-Smith A, Carette MJ, Grant J, Dennis N, et al. Williams syndrome: use of chromosomal micmdeletions as a tool to dissect cognitive and physical phenotypes. 1999;64:118-125.
    • Tassebehji MT, Metcalfe K, Karmiloff-Smith A, Carette MJ, Grant J, Dennis N, et al. Williams syndrome: use of chromosomal micmdeletions as a tool to dissect cognitive and physical phenotypes. Am J Hum Genet 1999;64:118-125.
    • Am J Hum Genet
    • Tassebehji, M.T.1
  • 34
    • 0029798778 scopus 로고    scopus 로고
    • Helms C, Fekete G, Csiszar K, Bonnet D, Munnich A, et al. 7qll.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover. 1996;59:958-962.
    • Urban Z, Helms C, Fekete G, Csiszar K, Bonnet D, Munnich A, et al. 7qll.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover. Am J Hum Genet 1996;59:958-962.
    • Am J Hum Genet
    • Urban, Z.1
  • 35
    • 0029789458 scopus 로고    scopus 로고
    • Brizzolara D, Carlesimo GA, Pezzini G, Volterra V. Memory abilities in children with Williams syndrome. 1996;32:503-514.
    • Vicari S, Brizzolara D, Carlesimo GA, Pezzini G, Volterra V. Memory abilities in children with Williams syndrome. Cortex 1996;32:503-514.
    • Cortex
    • Vicari, S.1
  • 37
    • 0030480151 scopus 로고    scopus 로고
    • Capirci O, Pezzini G, Sabbadini L, Vicari S. Linguistic abilities in Italian children with Williams syndrome. 1996;32:663-667.
    • Volterra V, Capirci O, Pezzini G, Sabbadini L, Vicari S. Linguistic abilities in Italian children with Williams syndrome. Cortex 1996;32:663-667.
    • Cortex
    • Volterra, V.1
  • 38
    • 0032768895 scopus 로고    scopus 로고
    • Longobardi E, Pezzini G, Vicari S, Antenore C. Visuospatial and linguistic abilities in a ftvin with Williams syndrome. 1999;43:294-305.
    • Volterra V, Longobardi E, Pezzini G, Vicari S, Antenore C. Visuospatial and linguistic abilities in a ftvin with Williams syndrome. International J Intellectual Abilities 1999;43:294-305.
    • International J Intellectual Abilities
    • Volterra, V.1
  • 39
    • 0026794990 scopus 로고    scopus 로고
    • Hesselink JR, Jernigan TL, Doherty S, Bellugi U. Specific neurobehavioral profile of Williams syndrome is associated with neocerebellar hemispheric presentation. 1992;42:1999-2002.
    • Wang PP, Hesselink JR, Jernigan TL, Doherty S, Bellugi U. Specific neurobehavioral profile of Williams syndrome is associated with neocerebellar hemispheric presentation. Neurol 1992;42:1999-2002.
    • Neurol
    • Wang, P.P.1
  • 40
    • 0031043863 scopus 로고    scopus 로고
    • Harryman Samos C, Peoples R, Pérez-Jurado LA, Nusse R, Frankle U. A novel human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at 7qll.23. 1997;6:465-472.
    • Wang YK, Harryman Samos C, Peoples R, Pérez-Jurado LA, Nusse R, Frankle U. A novel human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at 7qll.23. Hum Mol Genet 1997;6:465-472.
    • Hum Mol Genet
    • Wang, Y.K.1
  • 41
    • 0001312219 scopus 로고    scopus 로고
    • Barratt-Boyes BG, Löwe JB. Supravalviilar aortic stenosis. 1961;24:1311.
    • Williams JCP, Barratt-Boyes BG, Löwe JB. Supravalviilar aortic stenosis. Circulation 1961;24:1311.
    • Circulation
    • Williams, J.C.P.1
  • 42
    • 0031811718 scopus 로고    scopus 로고
    • Reid Sutton V, Nickerson E, Lupski JR, Potocki L, Korenberg JR, et al. Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin. 1998;78:82-89.
    • Wu YQ, Reid Sutton V, Nickerson E, Lupski JR, Potocki L, Korenberg JR, et al. Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin. Am J Med Genet 1998;78:82-89.
    • Am J Med Genet
    • Wu, Y.Q.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.