메뉴 건너뛰기




Volumn 27, Issue 3, 2006, Pages 188-192

Cognitive and adaptive behavior profiles in Smith-Magenis syndrome

Author keywords

Adaptive behavior; Chromosome 17; Mental retardation; Microdeletion syndrome

Indexed keywords

ADAPTIVE BEHAVIOR; ADOLESCENT; ADULT; ARTICLE; BORDERLINE STATE; CHILD; CHROMOSOME 17P; CLINICAL PROTOCOL; COGNITION; DAILY LIFE ACTIVITY; DATA ANALYSIS; DEVELOPMENTAL DISORDER; DEVELOPMENTAL SCREENING; DISEASE SEVERITY; FEMALE; FUNCTIONAL ASSESSMENT; GENE DELETION; HUMAN; MAJOR CLINICAL STUDY; MENTAL DEFICIENCY; MOLECULAR GENETICS; PRIORITY JOURNAL; SMITH MAGENIS SYNDROME; SOCIALIZATION; WEAKNESS;

EID: 33748263765     PISSN: 0196206X     EISSN: None     Source Type: Journal    
DOI: 10.1097/00004703-200606000-00002     Document Type: Article
Times cited : (49)

References (35)
  • 1
    • 0022543280 scopus 로고
    • Interstitial deletion of (17)(p11.2p11.2) in nine patients
    • Smith ACM, McGavran L, Robinson J, et al. Interstitial deletion of (17)(p11.2p11.2) in nine patients. Am J Med Genet. 1986;24:393-414.
    • (1986) Am J Med Genet , vol.24 , pp. 393-414
    • Smith, A.C.M.1    McGavran, L.2    Robinson, J.3
  • 2
    • 0022477656 scopus 로고
    • Interstitial deletion of (17)(p11.2p11.2): Report of six additional patients with a new chromosome deletion syndrome
    • Stratton RF, Dobyns WB, Greenberg F, et al. Interstitial deletion of (17)(p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome. Am J Med Genet. 1986;24:421-432.
    • (1986) Am J Med Genet , vol.24 , pp. 421-432
    • Stratton, R.F.1    Dobyns, W.B.2    Greenberg, F.3
  • 3
    • 0026347929 scopus 로고
    • Molecular analysis of the Smith-Magenis syndrome: A possible contiguous gene syndrome associated with del(17)(p11.2)
    • Greenberg F, Guzzetta V, Montes de Oca-Luna R, et al. Molecular analysis of the Smith-Magenis syndrome: a possible contiguous gene syndrome associated with del(17)(p11.2). Am J Hum Genet. 1991;49:1207-1218.
    • (1991) Am J Hum Genet , vol.49 , pp. 1207-1218
    • Greenberg, F.1    Guzzetta, V.2    Montes De Oca-Luna, R.3
  • 4
    • 0000477117 scopus 로고    scopus 로고
    • The Smith-Magenis syndrome [del(17)p11.2]: Clinical review and molecular advances
    • Chen K-S, Potocki L, Lupski JR. The Smith-Magenis syndrome [del(17)p11.2]: clinical review and molecular advances. Ment Retard Dev Disabil Res Rev. 1996;2:122-129.
    • (1996) Ment Retard Dev Disabil Res Rev , vol.2 , pp. 122-129
    • Chen, K.-S.1    Potocki, L.2    Lupski, J.R.3
  • 5
    • 0030881588 scopus 로고    scopus 로고
    • Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome
    • Chen K-S, Manian P, Koeuth T, et al. Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nat Genet. 1997;17:159-162.
    • (1997) Nat Genet , vol.17 , pp. 159-162
    • Chen, K.-S.1    Manian, P.2    Koeuth, T.3
  • 6
    • 0344466705 scopus 로고    scopus 로고
    • Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]
    • Potocki L, Shaw CJ, Stankiewicz P, et al. Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]. Genet Med. 2003;5:430-434.
    • (2003) Genet Med , vol.5 , pp. 430-434
    • Potocki, L.1    Shaw, C.J.2    Stankiewicz, P.3
  • 7
    • 0344177207 scopus 로고    scopus 로고
    • Mutations in RAI1 associated with Smith-Magenis syndrome
    • Slager RE, Newton TL, Vlangos CN, et al. Mutations in RAI1 associated with Smith-Magenis syndrome. Nat Genet. 2003;33:1-3.
    • (2003) Nat Genet , vol.33 , pp. 1-3
    • Slager, R.E.1    Newton, T.L.2    Vlangos, C.N.3
  • 8
    • 8444228597 scopus 로고    scopus 로고
    • Mutations of RAI1, a PHD-containing protein in nondeletion patients with Smith-Magenis syndrome
    • Bi W, Saifi GM, Shaw CJ, et al. Mutations of RAI1, a PHD-containing protein in nondeletion patients with Smith-Magenis syndrome. Hum Genet. 2004;115:515-524.
    • (2004) Hum Genet , vol.115 , pp. 515-524
    • Bi, W.1    Saifi, G.M.2    Shaw, C.J.3
  • 9
    • 27744540813 scopus 로고    scopus 로고
    • RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions
    • Girirajan S, Elsas LJ, Devriendt K. RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions. J Med Genet. 2005;42:820-828.
    • (2005) J Med Genet , vol.42 , pp. 820-828
    • Girirajan, S.1    Elsas, L.J.2    Devriendt, K.3
  • 10
    • 0029920807 scopus 로고    scopus 로고
    • Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)
    • Greenberg F, Lewis RA, Potocki L, et al. Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2). Am J Med Genet. 1996;62:247-254.
    • (1996) Am J Med Genet , vol.62 , pp. 247-254
    • Greenberg, F.1    Lewis, R.A.2    Potocki, L.3
  • 11
    • 0032928069 scopus 로고    scopus 로고
    • The face of Smith-Magenis syndrome: A subjective and objective study
    • Allanson JE, Greenberg F, Smith ACM. The face of Smith-Magenis syndrome: a subjective and objective study. J Med Genet. 1999;36:394-397.
    • (1999) J Med Genet , vol.36 , pp. 394-397
    • Allanson, J.E.1    Greenberg, F.2    Smith, A.C.M.3
  • 12
    • 0038182204 scopus 로고    scopus 로고
    • The hand in Smith-Magenis syndrome (deletion 17p11.2): Evaluation by metacarpophalangeal pattern profile analysis
    • Schlesinger AE, Potocki L, Poznanski AK, et al. The hand in Smith-Magenis syndrome (deletion 17p11.2): evaluation by metacarpophalangeal pattern profile analysis. Pediatr Radiol. 2003;33:173-176.
    • (2003) Pediatr Radiol , vol.33 , pp. 173-176
    • Schlesinger, A.E.1    Potocki, L.2    Poznanski, A.K.3
  • 13
    • 0027509150 scopus 로고
    • Eye abnormalities in the Smith-Magenis contiguous gene deletion syndrome
    • Finucane BM, Jaeger ER, Kurtz MB, et al. Eye abnormalities in the Smith-Magenis contiguous gene deletion syndrome. Am J Med Genet. 1993;45:443-446.
    • (1993) Am J Med Genet , vol.45 , pp. 443-446
    • Finucane, B.M.1    Jaeger, E.R.2    Kurtz, M.B.3
  • 14
    • 0030005549 scopus 로고    scopus 로고
    • Ophthalmologic manifestations of Smith-Magenis syndrome
    • Chen RM, Lupski JR, Greenberg F, et al. Ophthalmologic manifestations of Smith-Magenis syndrome. Ophthalmology. 1996;103:1084-1091.
    • (1996) Ophthalmology , vol.103 , pp. 1084-1091
    • Chen, R.M.1    Lupski, J.R.2    Greenberg, F.3
  • 15
    • 33646830599 scopus 로고    scopus 로고
    • Epilepsy and chromosomal rearrangements in Smith-Magenis syndrome [del(17)(p11.2p11.2)]
    • Goldman L, Potocki L, Walz K, et al. Epilepsy and chromosomal rearrangements in Smith-Magenis syndrome [del(17)(p11.2p11.2)]. J Child Neurol. 2006;21:93-98.
    • (2006) J Child Neurol , vol.21 , pp. 93-98
    • Goldman, L.1    Potocki, L.2    Walz, K.3
  • 16
    • 0034042539 scopus 로고    scopus 로고
    • Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome
    • Potocki L, Glaze D, Tan D-X, et al. Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome. J Med Genet. 2000;37:428-433.
    • (2000) J Med Genet , vol.37 , pp. 428-433
    • Potocki, L.1    Glaze, D.2    Tan, D.-X.3
  • 17
    • 0032574468 scopus 로고    scopus 로고
    • Behavioral phenotype of Smith-Magenis syndrome (del 17p11.2)
    • Smith ACM, Dykens E, Greenberg F. Behavioral phenotype of Smith-Magenis syndrome (del 17p11.2). Am J Med Genet. 1998;81:179-185.
    • (1998) Am J Med Genet , vol.81 , pp. 179-185
    • Smith, A.C.M.1    Dykens, E.2    Greenberg, F.3
  • 18
    • 0035114739 scopus 로고    scopus 로고
    • Characterization of self-injurious behaviors in children and adults with Smith-Magenis syndrome
    • Finucane B, Dirrigl KH, Simon EW. Characterization of self-injurious behaviors in children and adults with Smith-Magenis syndrome. Am J Ment Retard. 2001;106:52-58.
    • (2001) Am J Ment Retard , vol.106 , pp. 52-58
    • Finucane, B.1    Dirrigl, K.H.2    Simon, E.W.3
  • 19
    • 0028123806 scopus 로고
    • The spasmodic upper-body squeeze: A characteristic behavior in Smith-Magenis syndrome
    • Finucane BM, Konar D, Hass-Givler B, et al. The spasmodic upper-body squeeze: a characteristic behavior in Smith-Magenis syndrome. Dev Med Child Neurol. 1994;36:78-83.
    • (1994) Dev Med Child Neurol , vol.36 , pp. 78-83
    • Finucane, B.M.1    Konar, D.2    Hass-Givler, B.3
  • 20
    • 0034968956 scopus 로고    scopus 로고
    • Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome
    • De Leersnyder H, de Blois MC, Claustrat B, et al. Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome. J Pediatr. 2001;139:111-116.
    • (2001) J Pediatr , vol.139 , pp. 111-116
    • De Leersnyder, H.1    De Blois, M.C.2    Claustrat, B.3
  • 21
    • 0032457871 scopus 로고    scopus 로고
    • Distinctiveness and correlates of maladaptive behaviour in children and adolescents with Smith-Magenis syndrome
    • Dykens EM, Smith ACM. Distinctiveness and correlates of maladaptive behaviour in children and adolescents with Smith-Magenis syndrome. J Intellect Disabil Res. 1998;42:481-489.
    • (1998) J Intellect Disabil Res , vol.42 , pp. 481-489
    • Dykens, E.M.1    Smith, A.C.M.2
  • 22
    • 0031115936 scopus 로고    scopus 로고
    • Brief report: Cognitive and behavioral profiles in persons with Smith-Magenis syndrome
    • Dykens EM, Finucane BM, Gayley C. Brief report: cognitive and behavioral profiles in persons with Smith-Magenis syndrome. J Autism Dev Disord. 1997;27:203-210.
    • (1997) J Autism Dev Disord , vol.27 , pp. 203-210
    • Dykens, E.M.1    Finucane, B.M.2    Gayley, C.3
  • 23
    • 0035207224 scopus 로고    scopus 로고
    • Abilities and attainment in Smith-Magenis syndrome
    • Udwin O, Webber C, Horn I. Abilities and attainment in Smith-Magenis syndrome. Dev Med Child Neurol. 2001;43:823-828.
    • (2001) Dev Med Child Neurol , vol.43 , pp. 823-828
    • Udwin, O.1    Webber, C.2    Horn, I.3
  • 26
  • 30
    • 0003499725 scopus 로고
    • San Antonio, TX: The Psychological Corporation, Harcourt Brace and Company
    • Bayley N. Bayley Scales of Infant Development, 2nd ed. San Antonio, TX: The Psychological Corporation, Harcourt Brace and Company; 1993.
    • (1993) Bayley Scales of Infant Development, 2nd Ed.
    • Bayley, N.1
  • 32
    • 3042641616 scopus 로고    scopus 로고
    • Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates
    • Shaw CJ, Withers MA, Lupski JR. Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates. Am J Hum Genet. 2004;75:75-81.
    • (2004) Am J Hum Genet , vol.75 , pp. 75-81
    • Shaw, C.J.1    Withers, M.A.2    Lupski, J.R.3
  • 33
    • 0038067849 scopus 로고    scopus 로고
    • Genome architecture catalyzes nonrecurrent chromosomal rearrangements
    • Stankiewicz P, Shaw CJ, Dapper JD, et al. Genome architecture catalyzes nonrecurrent chromosomal rearrangements. Am J Hum Genet. 2003:1101-1116.
    • (2003) Am J Hum Genet , pp. 1101-1116
    • Stankiewicz, P.1    Shaw, C.J.2    Dapper, J.D.3
  • 34
    • 1242330479 scopus 로고    scopus 로고
    • Behavioral characterization of mouse models for Smith-Magenis syndrome and dup(17)(p11.2p11.2)
    • Walz K, Spencer C, Kaasik K, et al. Behavioral characterization of mouse models for Smith-Magenis syndrome and dup(17)(p11.2p11.2). Hum Mol Genet. 2004;13:367-378.
    • (2004) Hum Mol Genet , vol.13 , pp. 367-378
    • Walz, K.1    Spencer, C.2    Kaasik, K.3
  • 35
    • 17744388353 scopus 로고    scopus 로고
    • Inactivation of RAI1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome
    • Bi W, Ohyama T, Nakamura H, et al. Inactivation of RAI1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome. Hum Mol Genet. 2005;14:983-995.
    • (2005) Hum Mol Genet , vol.14 , pp. 983-995
    • Bi, W.1    Ohyama, T.2    Nakamura, H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.