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Volumn 140, Issue 18, 2006, Pages 1950-1954

High cognitive functioning and behavioral phenotype in Pallister-Killian syndrome

Author keywords

Autism spectrum disorder; Isochromosome 12p; Normal development; Pallister Killian

Indexed keywords

ADOLESCENT; ARTICLE; AUTISM; BEHAVIOR; CASE REPORT; CHROMOSOME 12P; CHROMOSOME ANALYSIS; COGNITION; DEVELOPMENTAL DISORDER; FACIES; HUMAN; MACROSTOMIA; PALLISTER KILLIAN SYNDROME; PRIORITY JOURNAL; SKIN PIGMENTATION; SUPERNUMERARY CHROMOSOME;

EID: 33748629138     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31403     Document Type: Article
Times cited : (18)

References (7)
  • 1
    • 0029967022 scopus 로고    scopus 로고
    • Pallister-Killian syndrome: A mild case diagnosed by fluorescence in situ hybridization. Review of the literature and expansion of the phenotype
    • Bielanska MM, Khalifa MM, Duncan AM. 1996. Pallister-Killian syndrome: A mild case diagnosed by fluorescence in situ hybridization. Review of the literature and expansion of the phenotype. Am J Med Genet 65:104-108.
    • (1996) Am J Med Genet , vol.65 , pp. 104-108
    • Bielanska, M.M.1    Khalifa, M.M.2    Duncan, A.M.3
  • 3
    • 0033918550 scopus 로고    scopus 로고
    • The Pallister-Killian syndrome is reliable diagnosed by FISH of the buccal mucosa
    • Manasse BF, Lekgate N, Pfaffenzeller WM, de Ravel TJ. 2000. The Pallister-Killian syndrome is reliable diagnosed by FISH of the buccal mucosa. Clin Dysmorphol 9:163-165.
    • (2000) Clin Dysmorphol , vol.9 , pp. 163-165
    • Manasse, B.F.1    Lekgate, N.2    Pfaffenzeller, W.M.3    De Ravel, T.J.4
  • 4
    • 0027506864 scopus 로고
    • New diagnostic method for Pallister-Killian syndromedetection of i(12p) in interphase nuclei of buccal mucosa by fluorescence in situ hybridization
    • Ohashi H, Ishikiriyama S, Fukushima Y. 1993. New diagnostic method for Pallister-Killian syndromedetection of i(12p) in interphase nuclei of buccal mucosa by fluorescence in situ hybridization. Am J Med Genet 45:123-128.
    • (1993) Am J Med Genet , vol.45 , pp. 123-128
    • Ohashi, H.1    Ishikiriyama, S.2    Fukushima, Y.3
  • 6
    • 0026087355 scopus 로고
    • Tetrasomy 12p (Pallister-Killian syndrome)
    • Schinzel A. 1991. Tetrasomy 12p (Pallister-Killian syndrome). J Med Genet 28:122-125.
    • (1991) J Med Genet , vol.28 , pp. 122-125
    • Schinzel, A.1
  • 7
    • 0242266949 scopus 로고    scopus 로고
    • A rapid and noninvasive method for detecting tissue limited mosaicism: Detection of i(12)(p10) in buccal smear from a child with Pallister-Killian syndrome
    • Velagaleti GVN, Tapper JK, Rampy BA, Zhang S, Hawkins JC, Lockhart LH. 2003. A rapid and noninvasive method for detecting tissue limited mosaicism: Detection of i(12)(p10) in buccal smear from a child with Pallister-Killian syndrome. Gene Test 7:219-223.
    • (2003) Gene Test , vol.7 , pp. 219-223
    • Velagaleti, G.V.N.1    Tapper, J.K.2    Rampy, B.A.3    Zhang, S.4    Hawkins, J.C.5    Lockhart, L.H.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.