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Volumn 73, Issue 3, 2008, Pages 294-296

Three new patients with dup(17)(p11.2p11.2) without autism [3]

Author keywords

[No Author keywords available]

Indexed keywords

PERIPHERAL MYELIN PROTEIN 22;

EID: 38949126888     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2007.00959.x     Document Type: Letter
Times cited : (7)

References (11)
  • 1
    • 34147169956 scopus 로고    scopus 로고
    • Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype
    • Potocki L, Bi W, Treadwell-Deering D et al. Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet 2007: 80: 633-649.
    • (2007) Am J Hum Genet , vol.80 , pp. 633-649
    • Potocki, L.1    Bi, W.2    Treadwell-Deering, D.3
  • 8
    • 42149128720 scopus 로고    scopus 로고
    • Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay
    • Published online 2 March 2007 doi: 10.1002/ajmg.a.31636
    • Nakamine A, Ouchanov L, Jimenez P et al. Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay. Am J Med Genet A Published online 2 March 2007 doi: 10.1002/ajmg.a.31636.
    • Am J Med Genet A
    • Nakamine, A.1    Ouchanov, L.2    Jimenez, P.3
  • 9
    • 1642464639 scopus 로고    scopus 로고
    • Hereditary motor and sensory neuropathy (HMSN) IA, developmental delay and autism related disorder in a boy with duplication (17)(p11.2p12)
    • Moog U, Engelen JJ, Weber BW et al. Hereditary motor and sensory neuropathy (HMSN) IA, developmental delay and autism related disorder in a boy with duplication (17)(p11.2p12). Genet Couns 2004: 15: 73-80.
    • (2004) Genet Couns , vol.15 , pp. 73-80
    • Moog, U.1    Engelen, J.J.2    Weber, B.W.3
  • 11
    • 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.