메뉴 건너뛰기




Volumn 34, Issue 8, 2012, Pages 700-703

Searching for Potocki-Lupski syndrome phenotype: A patient with language impairment and no autism

Author keywords

17p11.2; Inv(8)(q21.3 q24.1); Language and speech impairment; Potocki Lupski syndrome

Indexed keywords

ACADEMIC ACHIEVEMENT; ADAPTIVE BEHAVIOR; ARTICLE; CASE REPORT; CHILD; CHILD DEVELOPMENT; CHROMOSOME 17P; CHROMOSOME DUPLICATION; CLINICAL FEATURE; FUNCTIONAL MAGNETIC RESONANCE IMAGING; GENETIC DISORDER; HUMAN; INTELLIGENCE; LANGUAGE DEVELOPMENT; LANGUAGE DISABILITY; MALE; MALFORMATION SYNDROME; POTOCKI LUPSKI SYNDROME; SCHOOL CHILD;

EID: 84864753368     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2011.11.003     Document Type: Article
Times cited : (11)

References (10)
  • 2
    • 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., Carvalho C.M., Eifert A., Friedman E.M., 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    Carvalho, C.M.4    Eifert, A.5    Friedman, E.M.6
  • 3
    • 48249149836 scopus 로고    scopus 로고
    • Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome
    • Molina J., Carmona-Mora P., Chrast J., Krall P.M., Canales C.P., Lupski J.R., et al. Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome. Hum Mol Genet 2008, 17:2486-2495.
    • (2008) Hum Mol Genet , vol.17 , pp. 2486-2495
    • Molina, J.1    Carmona-Mora, P.2    Chrast, J.3    Krall, P.M.4    Canales, C.P.5    Lupski, J.R.6
  • 4
    • 76849117308 scopus 로고    scopus 로고
    • Cognitive and behavioral characterization of the Potocki-Lupski syndrome (duplication 17p11.2)
    • Treadwell-Deering D.E., Powell M.P., Potocki L. Cognitive and behavioral characterization of the Potocki-Lupski syndrome (duplication 17p11.2). J Dev Behav Pediatr 2010, 31:137-143.
    • (2010) J Dev Behav Pediatr , vol.31 , pp. 137-143
    • Treadwell-Deering, D.E.1    Powell, M.P.2    Potocki, L.3
  • 5
    • 18644368306 scopus 로고    scopus 로고
    • Neonatal feeding performance as a predictor of neurodevelopmental outcome at 18months
    • Mizuno K., Ueda A. Neonatal feeding performance as a predictor of neurodevelopmental outcome at 18months. Dev Med Child Neurol 2005, 47:299-304.
    • (2005) Dev Med Child Neurol , vol.47 , pp. 299-304
    • Mizuno, K.1    Ueda, A.2
  • 6
    • 33845726173 scopus 로고    scopus 로고
    • Clinical implications of cross-system interactions
    • McFarland D.H., Tremblay P. Clinical implications of cross-system interactions. Semin Speech Lang 2006, 27:300-309.
    • (2006) Semin Speech Lang , vol.27 , pp. 300-309
    • McFarland, D.H.1    Tremblay, P.2
  • 7
    • 33847073472 scopus 로고    scopus 로고
    • EFCBP1/NECAB1, a brain-specifically expressed gene with highest abundance in temporal lobe, encodes a protein containing EF-hand and antibiotic biosynthesis monooxygenase domains
    • Wu H., Li D., Shan Y., Wan B., Hexige S., Guo J., et al. EFCBP1/NECAB1, a brain-specifically expressed gene with highest abundance in temporal lobe, encodes a protein containing EF-hand and antibiotic biosynthesis monooxygenase domains. DNA Seq 2007, 18:73-79.
    • (2007) DNA Seq , vol.18 , pp. 73-79
    • Wu, H.1    Li, D.2    Shan, Y.3    Wan, B.4    Hexige, S.5    Guo, J.6
  • 8
    • 1542465849 scopus 로고    scopus 로고
    • Analyses of beta-1 syntrophin, syndecan 2 and gem GTPase as candidates for chicken muscular dystrophy
    • Yoshizawa K., Inaba K., Mannen H., Kikuchi T., Mizutani M., Tsuji S. Analyses of beta-1 syntrophin, syndecan 2 and gem GTPase as candidates for chicken muscular dystrophy. Exp Anim 2003, 52:391-396.
    • (2003) Exp Anim , vol.52 , pp. 391-396
    • Yoshizawa, K.1    Inaba, K.2    Mannen, H.3    Kikuchi, T.4    Mizutani, M.5    Tsuji, S.6
  • 9
    • 77649122250 scopus 로고    scopus 로고
    • A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
    • Girirajan S., Rosenfeld J.A., Cooper G.M., Antonacci F., Siswara P., Itsara A., et al. A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet 2010, 42:203-209.
    • (2010) Nat Genet , vol.42 , pp. 203-209
    • Girirajan, S.1    Rosenfeld, J.A.2    Cooper, G.M.3    Antonacci, F.4    Siswara, P.5    Itsara, A.6
  • 10
    • 33746855174 scopus 로고    scopus 로고
    • Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3
    • Chan W.M., Traboulsi E.I., Arthur B., Friedman N., Andrews C., Engle E.C. Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3. J Med Genet 2006, 43:e11.
    • (2006) J Med Genet , vol.43
    • Chan, W.M.1    Traboulsi, E.I.2    Arthur, B.3    Friedman, N.4    Andrews, C.5    Engle, E.C.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.