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Volumn 119 A, Issue 2, 2003, Pages 111-120

Genetic and clinical characterization of patients with an interstitial duplication 15q11-q13, emphasizing behavioral phenotype and response to treatment

Author keywords

Attention deficit hyperactivity disorder; Autism; Chromosomal duplication; Developmental delay

Indexed keywords

AMFEBUTAMONE; AMPHETAMINE; DNA; FLUOXETINE; METHYLPHENIDATE; PAROXETINE; QUETIAPINE; RISPERIDONE;

EID: 0041320864     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.10176     Document Type: Article
Times cited : (53)

References (27)
  • 4
    • 0032971379 scopus 로고    scopus 로고
    • Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13)
    • Christian SL, Fantes JA, Mewborn SK, Huang B, Ledbetter DH. 1999. Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13). Hum Mol Genet 8:1025-1037.
    • (1999) Hum Mol Genet , vol.8 , pp. 1025-1037
    • Christian, S.L.1    Fantes, J.A.2    Mewborn, S.K.3    Huang, B.4    Ledbetter, D.H.5
  • 5
    • 0027231008 scopus 로고
    • Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome
    • Clayton-Smith J, Webb T, Cheng XJ, Pembrey ME, Malcolm S. 1993. Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome. J Med Genet 30:529-531.
    • (1993) J Med Genet , vol.30 , pp. 529-531
    • Clayton-Smith, J.1    Webb, T.2    Cheng, X.J.3    Pembrey, M.E.4    Malcolm, S.5
  • 6
    • 0031441797 scopus 로고    scopus 로고
    • A new self-report scale for the assessment of adolescent psychopathology: Factor structure, reliability, validity and diagnostic sensitivity
    • Conners CK, Wells KC, Parker JDA, Sitarenios G, Diamond JM, Powell JW. 1997. A new self-report scale for the assessment of adolescent psychopathology: factor structure, reliability, validity and diagnostic sensitivity. J Abnorm Child Psychol 25:487-497.
    • (1997) J Abnorm Child Psychol , vol.25 , pp. 487-497
    • Conners, C.K.1    Wells, K.C.2    Parker, J.D.A.3    Sitarenios, G.4    Diamond, J.M.5    Powell, J.W.6
  • 8
    • 0031685279 scopus 로고    scopus 로고
    • Effects of fluoxetine treatment in young children with idiopathic autism
    • Delong GR, Teague LA, McSwain Kamran M. 1998. Effects of fluoxetine treatment in young children with idiopathic autism. Dev Med Child Neurol 40:551-562.
    • (1998) Dev Med Child Neurol , vol.40 , pp. 551-562
    • Delong, G.R.1    Teague, L.A.2    McSwain Kamran, M.3
  • 9
    • 0026595355 scopus 로고
    • Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13
    • Dittrich JB, Robinson WP, Knoblauch K, Buiting K, Schmidt G, Gillesen-Kaesbach B. 1992. Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13. Hum Genet 90:313-315.
    • (1992) Hum Genet , vol.90 , pp. 313-315
    • Dittrich, J.B.1    Robinson, W.P.2    Knoblauch, K.3    Buiting, K.4    Schmidt, G.5    Gillesen-Kaesbach, B.6
  • 11
    • 0025342495 scopus 로고
    • Proximal 15q variant as possible pitfall in the cytogenetic diagnosis of Prader-Willi syndrome
    • Hoo JJ, Chao MC, Samuel IP, Moargan AM. 1990. Proximal 15q variant as possible pitfall in the cytogenetic diagnosis of Prader-Willi syndrome. Clin Genet 37:161-166.
    • (1990) Clin Genet , vol.37 , pp. 161-166
    • Hoo, J.J.1    Chao, M.C.2    Samuel, I.P.3    Moargan, A.M.4
  • 12
    • 0028111687 scopus 로고
    • Form of 15q proximal duplication appears to be a normal euchromatic variant
    • Jalal SM, Lindor NM. 1994. Form of 15q proximal duplication appears to be a normal euchromatic variant. Am J Med Genet 52:495-497.
    • (1994) Am J Med Genet , vol.52 , pp. 495-497
    • Jalal, S.M.1    Lindor, N.M.2
  • 15
    • 0025954480 scopus 로고
    • Absence of predictable phenotypic expression in proximal 15q duplications
    • Ludowese CJ, Thompson KJ, Sekhon GS, Pauli RM. 1991. Absence of predictable phenotypic expression in proximal 15q duplications. Clin Genet 40:194-201.
    • (1991) Clin Genet , vol.40 , pp. 194-201
    • Ludowese, C.J.1    Thompson, K.J.2    Sekhon, G.S.3    Pauli, R.M.4
  • 16
  • 17
    • 0029960187 scopus 로고    scopus 로고
    • Clinical heterogeneity in 16 patients with inv dup 15 chromosome: Cytogenetic and molecular studies, search for an imprinting effect
    • Mignon C, Malzac P, Moncla A, Depetris D, Roeckel N, Croquette MF, Mattei MG. 1996. Clinical heterogeneity in 16 patients with inv dup 15 chromosome: Cytogenetic and molecular studies, search for an imprinting effect. Eur J Hum Genet 4(2):88-100.
    • (1996) Eur J Hum Genet , vol.4 , Issue.2 , pp. 88-100
    • Mignon, C.1    Malzac, P.2    Moncla, A.3    Depetris, D.4    Roeckel, N.5    Croquette, M.F.6    Mattei, M.G.7
  • 19
    • 0041658972 scopus 로고
    • Duplication of 15q11.2-15q13 in five cases with different phenotypes
    • Rausch LA, Nevin NC. 1991. Duplication of 15q11.2-15q13 in five cases with different phenotypes. J Med Genet 28:573-574.
    • (1991) J Med Genet , vol.28 , pp. 573-574
    • Rausch, L.A.1    Nevin, N.C.2
  • 20
    • 0032169436 scopus 로고    scopus 로고
    • Interstitial duplications of chromosome region 15q11q13: Clinical and molecular characterization
    • Repetto GM, White LM, Bader PJ, Johnson D, Knoll JHM. 1998. Interstitial duplications of chromosome region 15q11q13: Clinical and molecular characterization. Am J Med Genet 79:82-89.
    • (1998) Am J Med Genet , vol.79 , pp. 82-89
    • Repetto, G.M.1    White, L.M.2    Bader, P.J.3    Johnson, D.4    Knoll, J.H.M.5
  • 21
    • 0032424560 scopus 로고    scopus 로고
    • The evaluation of 15q proximal duplications by FISH
    • Riordan D, Dawson AJ. 1998. The evaluation of 15q proximal duplications by FISH. Clin Genet 54:517-521.
    • (1998) Clin Genet , vol.54 , pp. 517-521
    • Riordan, D.1    Dawson, A.J.2
  • 22
    • 0031876598 scopus 로고    scopus 로고
    • A large polymorphic repeat in the pericentromeric region of human chromosome 15q contains three partial gene duplications
    • Ritchie RJ, Mattie M-G, Lalande M. 1998. A large polymorphic repeat in the pericentromeric region of human chromosome 15q contains three partial gene duplications. Hum Mol Genet 7:1253-1260.
    • (1998) Hum Mol Genet , vol.7 , pp. 1253-1260
    • Ritchie, R.J.1    Mattie, M.-G.2    Lalande, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.