메뉴 건너뛰기




Volumn 98, Issue 4, 2002, Pages 233-239

Molecular genetic delineation of a deletion of chromosome 13q12→q13 in a patient with autism and auditory processing deficits

Author keywords

[No Author keywords available]

Indexed keywords

CALMODULIN KINASE; DOUBLECORTIN; NERVE PROTEIN; NEURON SPECIFIC PROTEIN KINASE A ANCHOR PROTEIN; PROTEIN; SMAD PROTEIN; UNCLASSIFIED DRUG;

EID: 0037810302     PISSN: 14248581     EISSN: None     Source Type: Journal    
DOI: 10.1159/000071040     Document Type: Article
Times cited : (45)

References (32)
  • 1
    • 0024550269 scopus 로고
    • The autistic child's theory of mind: A case of specific developmental delay
    • Baron-Cohen S: The autistic child's theory of mind: A case of specific developmental delay. J Child Psychol Psychiatry 30:285-297 (1989).
    • (1989) J Child Psychol Psychiatry , vol.30 , pp. 285-297
    • Baron-Cohen, S.1
  • 2
    • 0022142647 scopus 로고
    • Does the autistic child have a theory of mind?
    • Baron-Cohen S, Leslie AM, Frith U: Does the autistic child have a theory of mind? Cognition 21:37-46 (1985).
    • (1985) Cognition , vol.21 , pp. 37-46
    • Baron-Cohen, S.1    Leslie, A.M.2    Frith, U.3
  • 4
    • 0023432567 scopus 로고
    • Assessing assessment: The Goldman-Fristoe-Woodcock auditory skills battery
    • Brown JR: Assessing assessment: the Goldman-Fristoe-Woodcock Auditory Skills Battery. Ear Hear 5:262-269 (1987).
    • (1987) Ear Hear , vol.5 , pp. 262-269
    • Brown, J.R.1
  • 5
    • 0034533439 scopus 로고    scopus 로고
    • Doublecortin-like kinase is associated with microtubules in neuronal growth cones
    • Burgess HA, Reiner O: Doublecortin-like kinase is associated with microtubules in neuronal growth cones. Mol Cell Neurosci 5:529-541 (2000).
    • (2000) Mol Cell Neurosci , vol.5 , pp. 529-541
    • Burgess, H.A.1    Reiner, O.2
  • 6
    • 0037328861 scopus 로고    scopus 로고
    • Angelman syndrome: A review of the clinical and genetic aspects
    • Clayton-Smith J, Laan L: Angelman syndrome: a review of the clinical and genetic aspects. J med Genet 40:87-95 (2003).
    • (2003) J Med Genet , vol.40 , pp. 87-95
    • Clayton-Smith, J.1    Laan, L.2
  • 8
    • 0034787899 scopus 로고    scopus 로고
    • Detection of parent-of-origin effects for atopy by model-free and model-based linkage analyses
    • Demenais F, Chaudru V, Martinez M: Detection of parent-of-origin effects for atopy by model-free and model-based linkage analyses. Genet Epidemiol 21 Suppl 1:S186-191 (2001).
    • (2001) Genet Epidemiol , vol.21 , Issue.1 SUPPL.
    • Demenais, F.1    Chaudru, V.2    Martinez, M.3
  • 9
    • 73649175004 scopus 로고
    • The Token Test: A sensitive test to detect receptive disturbances in aphasics
    • DeRenzi E, Vignolo L: The Token Test: A sensitive test to detect receptive disturbances in aphasics. Brain 85:665-678 (1962).
    • (1962) Brain , vol.85 , pp. 665-678
    • DeRenzi, E.1    Vignolo, L.2
  • 11
    • 0028058986 scopus 로고
    • Human haploinsufficiency - One for sorrow, two for joy
    • Fisher E, Scambler P: Human haploinsufficiency - one for sorrow, two for joy. Nature Genet 7:5-7 (1994).
    • (1994) Nature Genet , vol.7 , pp. 5-7
    • Fisher, E.1    Scambler, P.2
  • 17
    • 0027997172 scopus 로고
    • Autism Diagnostic Interview-Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders
    • Lord C, Rutter M, Le Couteur A: Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord 24:659-685 (1994).
    • (1994) J Autism Dev Disord , vol.24 , pp. 659-685
    • Lord, C.1    Rutter, M.2    Le Couteur, A.3
  • 19
    • 0037313644 scopus 로고    scopus 로고
    • Wnts and TGF beta in synaptogenesis: Old friends signalling at new places
    • Packard M, Mathew D, Budnik V: Wnts and TGF beta in synaptogenesis: old friends signalling at new places. Nature Rev Neurosci 4:113-120 (2003).
    • (2003) Nature Rev Neurosci , vol.4 , pp. 113-120
    • Packard, M.1    Mathew, D.2    Budnik, V.3
  • 22
    • 0034277141 scopus 로고
    • Three-year-olds' difficulty with the appearance-reality distinction: Is it real or is it apparent?
    • Sapp F, Lee K, Muir D: Three-year-olds' difficulty with the appearance-reality distinction: Is it real or is it apparent? Develop Psychol 36:547-560 (1988).
    • (1988) Develop Psychol , vol.36 , pp. 547-560
    • Sapp, F.1    Lee, K.2    Muir, D.3
  • 24
    • 0033557797 scopus 로고    scopus 로고
    • DCAMKL1, a brain-specific transmembrane protein on 13q12.3 that is similar to doublecortin (DCX)
    • Sossey-Alaoui K, Srivastava AK: DCAMKL1, a brain-specific transmembrane protein on 13q12.3 that is similar to doublecortin (DCX). Genomics 56:121-126 (1999).
    • (1999) Genomics , vol.56 , pp. 121-126
    • Sossey-Alaoui, K.1    Srivastava, A.K.2
  • 28
    • 0035425584 scopus 로고    scopus 로고
    • Trisomy 4pter→q12 and monosomy of chromosome 13pter→q12 in a male with deficiency of all blood lymphocyte populations
    • Velagaleti GV, Lockhart LH, Schmalstieg FC, Gold-(man AS: Trisomy 4pter→q12 and monosomy of chromosome 13pter→q12 in a male with deficiency of all blood lymphocyte populations. Am J med Genet 102:139-145 (2001).
    • (2001) Am J Med Genet , vol.102 , pp. 139-145
    • Velagaleti, G.V.1    Lockhart, L.H.2    Schmalstieg, F.C.3    Goldman, A.S.4
  • 30
    • 0034548872 scopus 로고    scopus 로고
    • Neurobeachin: A protein kinase A-anchoring, beige/Chediak-higashi protein homolog implicated in neuronal membrane traffic
    • Wang X, Herberg FW, Laue MM, Wullner C, Hu B, Petrasch-Parwez E, Kilimann MW: Neurobeachin: A protein kinase A-anchoring, beige/Chediak-higashi protein homolog implicated in neuronal membrane traffic. J Neurosci 20: 8551-8565 (2000).
    • (2000) J Neurosci , vol.20 , pp. 8551-8565
    • Wang, X.1    Herberg, F.W.2    Laue, M.M.3    Wullner, C.4    Hu, B.5    Petrasch-Parwez, E.6    Kilimann, M.W.7
  • 31
    • 0002514832 scopus 로고
    • Against the Cartesian view on mind: Young children's difficulty with own false beliefs
    • Wimmer H, Hartl M: Against the Cartesian view on mind: Young children's difficulty with own false beliefs. Brit J Dev Psych 9:125-138 (1991).
    • (1991) Brit J Dev Psych , vol.9 , pp. 125-138
    • Wimmer, H.1    Hartl, M.2
  • 32
    • 0032821763 scopus 로고    scopus 로고
    • Developmental expression of Mab21l2 during mouse embryogenesis
    • Wong RL, Chan KK, Chow KL: Developmental expression of Mab21l2 during mouse embryogenesis. Mech Dev 87:185-188 (1999).
    • (1999) Mech Dev , vol.87 , pp. 185-188
    • Wong, R.L.1    Chan, K.K.2    Chow, K.L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.