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Volumn 24, Issue 3, 2011, Pages 217-236

Update on Clinical Features and Brain Abnormalities in Neurogenetics Syndromes

Author keywords

Down syndrome; Fragile X syndrome; Prader Willi syndrome; Rett syndrome; Velocardiofacial syndrome; Williams syndrome

Indexed keywords


EID: 79954539272     PISSN: 13602322     EISSN: 14683148     Source Type: Journal    
DOI: 10.1111/j.1468-3148.2010.00603.x     Document Type: Article
Times cited : (3)

References (176)
  • 1
    • 0031461901 scopus 로고    scopus 로고
    • Voice, speech and language characteristics of children with Prader-Willi syndrome
    • Akefeldt A., Akefeldt B. & Gillberg C. (1997) Voice, speech and language characteristics of children with Prader-Willi syndrome. Journal of Intellectual Disability Research 41 (Pt 4), 302-311.
    • (1997) Journal of Intellectual Disability Research , vol.41 , Issue.PART. 4 , pp. 302-311
    • Akefeldt, A.1    Akefeldt, B.2    Gillberg, C.3
  • 2
    • 7744229511 scopus 로고    scopus 로고
    • Brain anatomy in adults with velocardiofacial syndrome with and without schizophrenia: preliminary results of a structural magnetic resonance imaging study
    • van Amelsvoort T., Daly E., Henry J., Robertson D., Ng V., Owen M., Murphy K. C. & Murphy D. G. (2004) Brain anatomy in adults with velocardiofacial syndrome with and without schizophrenia: preliminary results of a structural magnetic resonance imaging study. Archives of General Psychiatry 61, 1085-1096.
    • (2004) Archives of General Psychiatry , vol.61 , pp. 1085-1096
    • van Amelsvoort, T.1    Daly, E.2    Henry, J.3    Robertson, D.4    Ng, V.5    Owen, M.6    Murphy, K.C.7    Murphy, D.G.8
  • 3
    • 0032830639 scopus 로고    scopus 로고
    • Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
    • Amir R. E., Van den Veyver I. B., Wan M., Tran C. Q., Francke U. & Zoghbi H. Y. (1999) Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nature Genetics 23, 185-188.
    • (1999) Nature Genetics , vol.23 , pp. 185-188
    • Amir, R.E.1    Van den Veyver, I.B.2    Wan, M.3    Tran, C.Q.4    Francke, U.5    Zoghbi, H.Y.6
  • 4
    • 61349149897 scopus 로고    scopus 로고
    • A cross-syndrome study of the development of holistic face recognition in children with autism, Down syndrome, and Williams syndrome
    • Annaz D., Karmiloff-Smith A., Johnson M. H. & Thomas M. S. (2009) A cross-syndrome study of the development of holistic face recognition in children with autism, Down syndrome, and Williams syndrome. Journal of Experimental Child Psychology 102, 456-486.
    • (2009) Journal of Experimental Child Psychology , vol.102 , pp. 456-486
    • Annaz, D.1    Karmiloff-Smith, A.2    Johnson, M.H.3    Thomas, M.S.4
  • 6
    • 17144376823 scopus 로고    scopus 로고
    • 22q11.2 deletion syndrome: genetics, neuroanatomy and cognitive/behavioral features keywords
    • Antshel K. M., Kates W. R., Roizen N., Fremont W. & Shprintzen R. J. (2005) 22q11.2 deletion syndrome: genetics, neuroanatomy and cognitive/behavioral features keywords. Child Neuropsychology 11, 5-19.
    • (2005) Child Neuropsychology , vol.11 , pp. 5-19
    • Antshel, K.M.1    Kates, W.R.2    Roizen, N.3    Fremont, W.4    Shprintzen, R.J.5
  • 9
    • 33846952861 scopus 로고    scopus 로고
    • Correlative study of the cognitive impairment, regional cerebral blood flow, and electroencephalogram abnormalities in children with Down's syndrome
    • Aydin M., Kabakus N., Balci T. A. & Ayar A. (2007) Correlative study of the cognitive impairment, regional cerebral blood flow, and electroencephalogram abnormalities in children with Down's syndrome. International Journal of Neuroscience 117, 327-336.
    • (2007) International Journal of Neuroscience , vol.117 , pp. 327-336
    • Aydin, M.1    Kabakus, N.2    Balci, T.A.3    Ayar, A.4
  • 14
    • 0642371334 scopus 로고    scopus 로고
    • Investigation of white matter structure in velocardiofacial syndrome: a diffusion tensor imaging study
    • Barnea-Goraly N., Menon V., Krasnow B., Ko A., Reiss A. & Eliez S. (2003b) Investigation of white matter structure in velocardiofacial syndrome: a diffusion tensor imaging study. American Journal of Psychiatry 160, 1863-1869.
    • (2003) American Journal of Psychiatry , vol.160 , pp. 1863-1869
    • Barnea-Goraly, N.1    Menon, V.2    Krasnow, B.3    Ko, A.4    Reiss, A.5    Eliez, S.6
  • 15
  • 16
    • 0030162959 scopus 로고    scopus 로고
    • Microstructural and physiological features of tissues elucidated by quantitative-diffusion-tensor MRI
    • Basser P. J. & Pierpaoli (1996) Microstructural and physiological features of tissues elucidated by quantitative-diffusion-tensor MRI. Journal of Magnetic Resonance B 111, 209-219.
    • (1996) Journal of Magnetic Resonance B , vol.111 , pp. 209-219
    • Basser, P.J.1    Pierpaoli2
  • 17
    • 0028223951 scopus 로고
    • A behavioral neurogenetics approach to developmental disabilities: gene-brain-behavior associations
    • Baumgardner T. L., Green K. E. & Reiss A. L. (1994) A behavioral neurogenetics approach to developmental disabilities: gene-brain-behavior associations. Current Opinion in Neurology 7, 172-178.
    • (1994) Current Opinion in Neurology , vol.7 , pp. 172-178
    • Baumgardner, T.L.1    Green, K.E.2    Reiss, A.L.3
  • 20
    • 0033519597 scopus 로고    scopus 로고
    • Towards the neural basis for hypersociability in a genetic syndrome
    • Bellugi U., Adolphs R., Cassady C. & Chiles M. (1999) Towards the neural basis for hypersociability in a genetic syndrome. Neuroreport 10, 1653-1657.
    • (1999) Neuroreport , vol.10 , pp. 1653-1657
    • Bellugi, U.1    Adolphs, R.2    Cassady, C.3    Chiles, M.4
  • 21
    • 0034043290 scopus 로고    scopus 로고
    • I. The neurocognitive profile of Williams syndrome: a complex pattern of strengths and weaknesses
    • Bellugi U., Lichtenberger L., Jones W., Lai Z. & St George M. (2000) I. The neurocognitive profile of Williams syndrome: a complex pattern of strengths and weaknesses. Journal of Cognitive Neuroscience 12(Suppl. 1), 7-29.
    • (2000) Journal of Cognitive Neuroscience , vol.12 , Issue.SUPPL. 1 , pp. 7-29
    • Bellugi, U.1    Lichtenberger, L.2    Jones, W.3    Lai, Z.4    St George, M.5
  • 23
    • 73049153622 scopus 로고
    • The diagnosis and evaluation of different forms of supravalvular aortic stenosis
    • Beuren A. J., Apitz J. & Koncz J. (1962) The diagnosis and evaluation of different forms of supravalvular aortic stenosis. Zeitschrift für Kreislaufforschung 51, 829-838.
    • (1962) Zeitschrift für Kreislaufforschung , vol.51 , pp. 829-838
    • Beuren, A.J.1    Apitz, J.2    Koncz, J.3
  • 31
    • 35648978121 scopus 로고    scopus 로고
    • The story of Rett syndrome: from clinic to neurobiology
    • Chahrour M. & Zoghbi H. Y. (2007) The story of Rett syndrome: from clinic to neurobiology. Neuron 56, 422-437.
    • (2007) Neuron , vol.56 , pp. 422-437
    • Chahrour, M.1    Zoghbi, H.Y.2
  • 33
    • 0027474136 scopus 로고
    • Clinical research on Angelman syndrome in the United Kingdom: observations on 82 affected individuals
    • Clayton-Smith J. (1993) Clinical research on Angelman syndrome in the United Kingdom: observations on 82 affected individuals. American Journal of Medical Genetics 46, 12-15.
    • (1993) American Journal of Medical Genetics , vol.46 , pp. 12-15
    • Clayton-Smith, J.1
  • 34
    • 0037328861 scopus 로고    scopus 로고
    • Angelman syndrome: a review of the clinical and genetic aspects
    • Clayton-Smith J. & Laan L. (2003) Angelman syndrome: a review of the clinical and genetic aspects. Journal of Medical Genetics 40, 87-95.
    • (2003) Journal of Medical Genetics , vol.40 , pp. 87-95
    • Clayton-Smith, J.1    Laan, L.2
  • 36
    • 1642420437 scopus 로고    scopus 로고
    • Do women with fragile X syndrome have problems in switching attention: preliminary findings from ERP and fMRI
    • Cornish K., Swainson R., Cunnington R., Wilding J., Morris P. & Jackson G. (2004) Do women with fragile X syndrome have problems in switching attention: preliminary findings from ERP and fMRI. Brain and Cognition 54, 235-239.
    • (2004) Brain and Cognition , vol.54 , pp. 235-239
    • Cornish, K.1    Swainson, R.2    Cunnington, R.3    Wilding, J.4    Morris, P.5    Jackson, G.6
  • 38
    • 67650116706 scopus 로고    scopus 로고
    • Brain function and gaze fixation during facial-emotion processing in fragile X and autism
    • Dalton K. M., Holsen L., Abbeduto L. & Davidson R. J. (2008) Brain function and gaze fixation during facial-emotion processing in fragile X and autism. Autism Research 1, 231-239.
    • (2008) Autism Research , vol.1 , pp. 231-239
    • Dalton, K.M.1    Holsen, L.2    Abbeduto, L.3    Davidson, R.J.4
  • 39
    • 70350349099 scopus 로고    scopus 로고
    • Angelman syndrome: current understanding and research prospects
    • Dan B. (2009) Angelman syndrome: current understanding and research prospects. Epilepsia 50, 2331-2339.
    • (2009) Epilepsia , vol.50 , pp. 2331-2339
    • Dan, B.1
  • 40
  • 41
    • 37849038398 scopus 로고    scopus 로고
    • Hippocampal volume reduction in children with chromosome 22q11.2 deletion syndrome is associated with cognitive impairment
    • DeBoer T., Wu Z., Lee A. & Simon T. (2007) Hippocampal volume reduction in children with chromosome 22q11.2 deletion syndrome is associated with cognitive impairment. Behavior and Brain Functions 3, 54.
    • (2007) Behavior and Brain Functions , vol.3 , pp. 54
    • DeBoer, T.1    Wu, Z.2    Lee, A.3    Simon, T.4
  • 43
    • 53949084203 scopus 로고    scopus 로고
    • Food-related neural circuitry in Prader-Willi syndrome: response to high- versus low-calorie foods
    • Dimitropoulos A. & Schultz R. T. (2008) Food-related neural circuitry in Prader-Willi syndrome: response to high- versus low-calorie foods. Journal of Autism and Developmental Disorders 38, 1642-1653.
    • (2008) Journal of Autism and Developmental Disorders , vol.38 , pp. 1642-1653
    • Dimitropoulos, A.1    Schultz, R.T.2
  • 44
    • 0035201345 scopus 로고    scopus 로고
    • Neurons and neuronal systems involved in the pathophysiologies of Rett syndrome
    • Dunn H. G. (2001) Neurons and neuronal systems involved in the pathophysiologies of Rett syndrome. Brain & Development 23, S99-S100.
    • (2001) Brain & Development , vol.23
    • Dunn, H.G.1
  • 45
    • 12144288558 scopus 로고    scopus 로고
    • Maladaptive and compulsive behavior in Prader-Willi syndrome: new insights from older adults
    • Dykens E. M. (2004) Maladaptive and compulsive behavior in Prader-Willi syndrome: new insights from older adults. American Journal of Mental Retardation 109, 142-153.
    • (2004) American Journal of Mental Retardation , vol.109 , pp. 142-153
    • Dykens, E.M.1
  • 47
    • 0034064651 scopus 로고    scopus 로고
    • Children and adolescents with velocardiofacial syndrome: a volumetric MRI study
    • Eliez S., Schmitt J. E., White C. D. & Reiss A. L. (2000) Children and adolescents with velocardiofacial syndrome: a volumetric MRI study. American Journal of Psychiatry 157, 409-415.
    • (2000) American Journal of Psychiatry , vol.157 , pp. 409-415
    • Eliez, S.1    Schmitt, J.E.2    White, C.D.3    Reiss, A.L.4
  • 48
    • 0035176185 scopus 로고    scopus 로고
    • Parental origin of the deletion 22q11.2 and brain development in velocardiofacial syndrome: a preliminary study
    • Eliez S., Antonarakis S. E., Morris M. A., Dahoun S. P. & Reiss A. L. (2001a) Parental origin of the deletion 22q11.2 and brain development in velocardiofacial syndrome: a preliminary study. Archives of General Psychiatry 58, 64-68.
    • (2001) Archives of General Psychiatry , vol.58 , pp. 64-68
    • Eliez, S.1    Antonarakis, S.E.2    Morris, M.A.3    Dahoun, S.P.4    Reiss, A.L.5
  • 49
    • 0035095617 scopus 로고    scopus 로고
    • Velocardiofacial syndrome: are structural changes in the temporal and mesial temporal regions related to schizophrenia?
    • Eliez S., Blasey C. M., Schmitt E. J., White C. D., Hu D. & Reiss A. L. (2001b) Velocardiofacial syndrome: are structural changes in the temporal and mesial temporal regions related to schizophrenia? American Journal of Psychiatry 158, 447-453.
    • (2001) American Journal of Psychiatry , vol.158 , pp. 447-453
    • Eliez, S.1    Blasey, C.M.2    Schmitt, E.J.3    White, C.D.4    Hu, D.5    Reiss, A.L.6
  • 50
    • 0035836010 scopus 로고    scopus 로고
    • Rett syndrome: clinical characteristics and recent genetic advances
    • Ellaway C. & Christodoulou J. (2001) Rett syndrome: clinical characteristics and recent genetic advances. Disability and Rehabilitation 23, 98-106.
    • (2001) Disability and Rehabilitation , vol.23 , pp. 98-106
    • Ellaway, C.1    Christodoulou, J.2
  • 56
    • 0028931795 scopus 로고
    • The neuropathology of Williams syndrome. Report of a 35-year-old man with presenile beta/A4 amyloid plaques and neurofibrillary tangles
    • Golden J. A., Nielsen G. P., Pober B. R. & Hyman B. T. (1995) The neuropathology of Williams syndrome. Report of a 35-year-old man with presenile beta/A4 amyloid plaques and neurofibrillary tangles. Archives of Neurology 52, 209-212.
    • (1995) Archives of Neurology , vol.52 , pp. 209-212
    • Golden, J.A.1    Nielsen, G.P.2    Pober, B.R.3    Hyman, B.T.4
  • 61
    • 44149125060 scopus 로고    scopus 로고
    • Genes, brain development and psychiatric phenotypes in velo-cardio-facial syndrome
    • Gothelf D., Schaer M. & Eliez S. (2008b) Genes, brain development and psychiatric phenotypes in velo-cardio-facial syndrome. Developmental Disabilities Research Reviews 14, 59-68.
    • (2008) Developmental Disabilities Research Reviews , vol.14 , pp. 59-68
    • Gothelf, D.1    Schaer, M.2    Eliez, S.3
  • 62
    • 0035192560 scopus 로고    scopus 로고
    • Magnetic resonance imaging and clinical findings examined in adulthood-studies on three adults with Rett syndrome
    • Gotoh H., Suzuki I., Maruki K., Mitomo M., Hirasawa K. & Sasaki N. (2001) Magnetic resonance imaging and clinical findings examined in adulthood-studies on three adults with Rett syndrome. Brain and Development 23(Suppl. 1), S118-S121.
    • (2001) Brain and Development , vol.23 , Issue.SUPPL. 1
    • Gotoh, H.1    Suzuki, I.2    Maruki, K.3    Mitomo, M.4    Hirasawa, K.5    Sasaki, N.6
  • 63
    • 0024757378 scopus 로고
    • Williams syndrome
    • Greenberg F. (1989) Williams syndrome. Pediatrics 84, 922-923.
    • (1989) Pediatrics , vol.84 , pp. 922-923
    • Greenberg, F.1
  • 64
    • 0037398374 scopus 로고    scopus 로고
    • Neuroimaging in developmental disorders
    • Greicius M. D. (2003) Neuroimaging in developmental disorders. Current Opinion in Neurology 16, 143-146.
    • (2003) Current Opinion in Neurology , vol.16 , pp. 143-146
    • Greicius, M.D.1
  • 69
    • 0022460194 scopus 로고
    • Rett syndrome: a suggested staging system for describing impairment profile with increasing age towards adolescence
    • Hagberg B. & Witt-Engerstrom I. (1986) Rett syndrome: a suggested staging system for describing impairment profile with increasing age towards adolescence. American Journal of Medical Genetics. Supplement 1, 47-59.
    • (1986) American Journal of Medical Genetics. Supplement , vol.1 , pp. 47-59
    • Hagberg, B.1    Witt-Engerstrom, I.2
  • 70
    • 0020507697 scopus 로고
    • A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases
    • Hagberg B., Aicardi J., Dias K. & Ramos O. (1983) A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases. Annals of Neurology 14, 471-479.
    • (1983) Annals of Neurology , vol.14 , pp. 471-479
    • Hagberg, B.1    Aicardi, J.2    Dias, K.3    Ramos, O.4
  • 71
    • 50049086691 scopus 로고    scopus 로고
    • The fragile X prevalence paradox
    • Hagerman P. J. (2008) The fragile X prevalence paradox. Journal of Medical Genetics 45, 498-499.
    • (2008) Journal of Medical Genetics , vol.45 , pp. 498-499
    • Hagerman, P.J.1
  • 74
    • 35948971820 scopus 로고    scopus 로고
    • More is not always better: increased fractional anisotropy of superior longitudinal fasciculus associated with poor visuospatial abilities in Williams syndrome
    • Hoeft F., Barnea-Goraly N., Haas B. W., Golarai G., Ng D., Mills D., Korenberg J., Bellugi U., Galaburda A. & Reiss A. L. (2007) More is not always better: increased fractional anisotropy of superior longitudinal fasciculus associated with poor visuospatial abilities in Williams syndrome. Journal of Neuroscience 27, 11960-11965.
    • (2007) Journal of Neuroscience , vol.27 , pp. 11960-11965
    • Hoeft, F.1    Barnea-Goraly, N.2    Haas, B.W.3    Golarai, G.4    Ng, D.5    Mills, D.6    Korenberg, J.7    Bellugi, U.8    Galaburda, A.9    Reiss, A.L.10
  • 75
    • 50949100442 scopus 로고    scopus 로고
    • Morphometric spatial patterns differentiating boys with fragile X syndrome, typically developing boys, and developmentally delayed boys aged 1 to 3years
    • Hoeft F., Lightbody A. A., Hazlett H. C., Patnaik S., Piven J. & Reiss A. L. (2008) Morphometric spatial patterns differentiating boys with fragile X syndrome, typically developing boys, and developmentally delayed boys aged 1 to 3years. Archives of General Psychiatry 65, 1087-1097.
    • (2008) Archives of General Psychiatry , vol.65 , pp. 1087-1097
    • Hoeft, F.1    Lightbody, A.A.2    Hazlett, H.C.3    Patnaik, S.4    Piven, J.5    Reiss, A.L.6
  • 76
    • 0037208057 scopus 로고    scopus 로고
    • Behavioural phenotypes associated with specific genetic disorders: evidence from a population-based study of people with Prader-Willi syndrome
    • Holland A. J., Whittington J. E., Butler J., Webb T., Boer H. & Clarke D. (2003) Behavioural phenotypes associated with specific genetic disorders: evidence from a population-based study of people with Prader-Willi syndrome. Psychological Medicine 33, 141-153.
    • (2003) Psychological Medicine , vol.33 , pp. 141-153
    • Holland, A.J.1    Whittington, J.E.2    Butler, J.3    Webb, T.4    Boer, H.5    Clarke, D.6
  • 80
    • 17644423458 scopus 로고    scopus 로고
    • Foreshortened dorsal extension of the central sulcus in Williams syndrome
    • Jackowski A. P. & Schultz R. T. (2005) Foreshortened dorsal extension of the central sulcus in Williams syndrome. Cortex 41, 282-290.
    • (2005) Cortex , vol.41 , pp. 282-290
    • Jackowski, A.P.1    Schultz, R.T.2
  • 82
    • 0025260871 scopus 로고
    • Anomalous brain morphology on magnetic resonance images in Williams syndrome and Down syndrome
    • Jernigan T. L. & Bellugi U. (1990) Anomalous brain morphology on magnetic resonance images in Williams syndrome and Down syndrome. Archives of Neurology 47, 529-533.
    • (1990) Archives of Neurology , vol.47 , pp. 529-533
    • Jernigan, T.L.1    Bellugi, U.2
  • 86
    • 0028306111 scopus 로고
    • Magnetic resonance imaging analysis of age-related changes in the brains of individuals with Down's syndrome
    • Kesslak J. P., Nagata S. F., Lott I. & Nalcioglu O. (1994) Magnetic resonance imaging analysis of age-related changes in the brains of individuals with Down's syndrome. Neurology 44, 1039-1045.
    • (1994) Neurology , vol.44 , pp. 1039-1045
    • Kesslak, J.P.1    Nagata, S.F.2    Lott, I.3    Nalcioglu, O.4
  • 87
    • 0036216036 scopus 로고    scopus 로고
    • Magnetic resonance spectroscopy and analysis of MECP2 in Rett syndrome
    • Khong P. L., Lam C. W., Ooi C. G., Ko C. H. & Wong V. C. (2002) Magnetic resonance spectroscopy and analysis of MECP2 in Rett syndrome. Pediatric Neurology, 26, 205-209.
    • (2002) Pediatric Neurology , vol.26 , pp. 205-209
    • Khong, P.L.1    Lam, C.W.2    Ooi, C.G.3    Ko, C.H.4    Wong, V.C.5
  • 91
    • 33845232989 scopus 로고    scopus 로고
    • Neuroanatomical, molecular genetic, and behavioral correlates of fragile X syndrome
    • Koukoui S. D. & Chaudhuri A. (2007) Neuroanatomical, molecular genetic, and behavioral correlates of fragile X syndrome. Brain Research Reviews 53, 27-38.
    • (2007) Brain Research Reviews , vol.53 , pp. 27-38
    • Koukoui, S.D.1    Chaudhuri, A.2
  • 92
    • 0036368653 scopus 로고    scopus 로고
    • Relation of medial temporal lobe volumes to age and memory function in nondemented adults with Down's syndrome: implications for the prodromal phase of Alzheimer's disease
    • Krasuski J. S., Alexander G. E., Horwitz B., Rapoport S. I. & Schapiro M. B. (2002) Relation of medial temporal lobe volumes to age and memory function in nondemented adults with Down's syndrome: implications for the prodromal phase of Alzheimer's disease. American Journal of Psychiatry 159, 74-81.
    • (2002) American Journal of Psychiatry , vol.159 , pp. 74-81
    • Krasuski, J.S.1    Alexander, G.E.2    Horwitz, B.3    Rapoport, S.I.4    Schapiro, M.B.5
  • 93
    • 12744253284 scopus 로고    scopus 로고
    • Angelman syndrome: is there a characteristic EEG?
    • Laan L. A. & Vein A. A. (2005) Angelman syndrome: is there a characteristic EEG? Brain and Development 27, 80-87.
    • (2005) Brain and Development , vol.27 , pp. 80-87
    • Laan, L.A.1    Vein, A.A.2
  • 97
    • 33745172090 scopus 로고    scopus 로고
    • Object recognition with severe spatial deficits in Williams syndrome: sparing and breakdown
    • Landau B., Hoffman J. E. & Kurz N. (2006) Object recognition with severe spatial deficits in Williams syndrome: sparing and breakdown. Cognition 100, 483-510.
    • (2006) Cognition , vol.100 , pp. 483-510
    • Landau, B.1    Hoffman, J.E.2    Kurz, N.3
  • 100
    • 73849141236 scopus 로고    scopus 로고
    • Gene, brain, and behavior relationships in fragile X syndrome: evidence from neuroimaging studies
    • Lightbody A. A. & Reiss A. L. (2009) Gene, brain, and behavior relationships in fragile X syndrome: evidence from neuroimaging studies. Developmental Disabilities Research Reviews 15, 343-352.
    • (2009) Developmental Disabilities Research Reviews , vol.15 , pp. 343-352
    • Lightbody, A.A.1    Reiss, A.L.2
  • 101
    • 0029835883 scopus 로고    scopus 로고
    • Velo-cardio-facial and partial DiGeorge phenotype in a child with interstitial deletion at 10p13 - implications for cytogenetics and molecular biology
    • Lipson A., Fagan K., Colley A., Colley P., Sholler G., Issacs D. & Oates R. K. (1996) Velo-cardio-facial and partial DiGeorge phenotype in a child with interstitial deletion at 10p13 - implications for cytogenetics and molecular biology. American Journal of Medical Genetics 65, 304-308.
    • (1996) American Journal of Medical Genetics , vol.65 , pp. 304-308
    • Lipson, A.1    Fagan, K.2    Colley, A.3    Colley, P.4    Sholler, G.5    Issacs, D.6    Oates, R.K.7
  • 104
    • 0036406902 scopus 로고    scopus 로고
    • The brain in Down syndrome (TRISOMY 21)
    • Lubec G. & Engidawork E. (2002) The brain in Down syndrome (TRISOMY 21). Journal of Neurology 249, 1347-1356.
    • (2002) Journal of Neurology , vol.249 , pp. 1347-1356
    • Lubec, G.1    Engidawork, E.2
  • 108
    • 51749115116 scopus 로고    scopus 로고
    • Specific entities affecting the craniocervical region: osteogenesis imperfecta and related osteochondrodysplasias: medical and surgical management of basilar impression
    • Menezes A. H. (2008) Specific entities affecting the craniocervical region: osteogenesis imperfecta and related osteochondrodysplasias: medical and surgical management of basilar impression. Childs Nervous System 24, 1169-1172.
    • (2008) Childs Nervous System , vol.24 , pp. 1169-1172
    • Menezes, A.H.1
  • 112
    • 33745698871 scopus 로고    scopus 로고
    • Neural mechanisms in Williams syndrome: a unique window to genetic influences on cognition and behaviour
    • Meyer-Lindenberg A., Mervis C. B. & Berman K. F. (2006) Neural mechanisms in Williams syndrome: a unique window to genetic influences on cognition and behaviour. Nature Reviews. Neuroscience 7, 380-393.
    • (2006) Nature Reviews. Neuroscience , vol.7 , pp. 380-393
    • Meyer-Lindenberg, A.1    Mervis, C.B.2    Berman, K.F.3
  • 113
    • 0030034236 scopus 로고    scopus 로고
    • MR of the pituitary in patients with Prader-Willi syndrome: size determination and imaging findings
    • Miller L., Angulo M., Price D. & Taneja S. (1996) MR of the pituitary in patients with Prader-Willi syndrome: size determination and imaging findings. Pediatric Radiology 26, 43-47.
    • (1996) Pediatric Radiology , vol.26 , pp. 43-47
    • Miller, L.1    Angulo, M.2    Price, D.3    Taneja, S.4
  • 119
    • 2542641023 scopus 로고    scopus 로고
    • Anomalous brain activation during face and gaze processing in Williams syndrome
    • Mobbs D., Garrett A. S., Menon V., Rose F. E., Bellugi U. & Reiss A. L. (2004) Anomalous brain activation during face and gaze processing in Williams syndrome. Neurology 62, 2070-2076.
    • (2004) Neurology , vol.62 , pp. 2070-2076
    • Mobbs, D.1    Garrett, A.S.2    Menon, V.3    Rose, F.E.4    Bellugi, U.5    Reiss, A.L.6
  • 121
    • 40649127477 scopus 로고    scopus 로고
    • Genetic evaluation of intellectual disabilities
    • Moeschler J. B. (2008) Genetic evaluation of intellectual disabilities. Seminars in Pediatric Neurology 15, 2-9.
    • (2008) Seminars in Pediatric Neurology , vol.15 , pp. 2-9
    • Moeschler, J.B.1
  • 128
    • 0037007981 scopus 로고    scopus 로고
    • Face and place processing in Williams syndrome: evidence for a dorsal-ventral dissociation
    • Paul B. M., Stiles J., Passarotti A., Bavar N. & Bellugi U. (2002) Face and place processing in Williams syndrome: evidence for a dorsal-ventral dissociation. Neuroreport 13, 1115-1119.
    • (2002) Neuroreport , vol.13 , pp. 1115-1119
    • Paul, B.M.1    Stiles, J.2    Passarotti, A.3    Bavar, N.4    Bellugi, U.5
  • 130
    • 47849125828 scopus 로고    scopus 로고
    • Behavior and neuropsychiatric manifestations in Angelman syndrome
    • Pelc K., Cheron G. & Dan B. (2008) Behavior and neuropsychiatric manifestations in Angelman syndrome. Neuropsychiatric Disease and Treatment 4, 577-584.
    • (2008) Neuropsychiatric Disease and Treatment , vol.4 , pp. 577-584
    • Pelc, K.1    Cheron, G.2    Dan, B.3
  • 131
    • 0035836647 scopus 로고    scopus 로고
    • Amygdala and hippocampal volumes in children with Down syndrome: a high-resolution MRI study
    • Pinter J. D., Brown W. E., Eliez S., Schmitt J. E., Capone G. T. & Reiss A. L. (2001a) Amygdala and hippocampal volumes in children with Down syndrome: a high-resolution MRI study. Neurology 56, 972-974.
    • (2001) Neurology , vol.56 , pp. 972-974
    • Pinter, J.D.1    Brown, W.E.2    Eliez, S.3    Schmitt, J.E.4    Capone, G.T.5    Reiss, A.L.6
  • 133
    • 64549102099 scopus 로고    scopus 로고
    • Assessment and care of the newborn with Down syndrome
    • Ranweiler R. (2009) Assessment and care of the newborn with Down syndrome. Advances in Neonatal Care 9, 17-24.
    • (2009) Advances in Neonatal Care , vol.9 , pp. 17-24
    • Ranweiler, R.1
  • 135
    • 34249001084 scopus 로고    scopus 로고
    • Behavioral and emotional symptoms of children and adolescents with Prader-Willi Syndrome
    • Reddy L. A. & Pfeiffer S. I. (2007) Behavioral and emotional symptoms of children and adolescents with Prader-Willi Syndrome. Journal of Autism and Developmental Disorders 37, 830-839.
    • (2007) Journal of Autism and Developmental Disorders , vol.37 , pp. 830-839
    • Reddy, L.A.1    Pfeiffer, S.I.2
  • 137
    • 0028070159 scopus 로고
    • Neuroanatomy of fragile X syndrome: the temporal lobe
    • Reiss A.L., Lee J. & Freund L. (1994) Neuroanatomy of fragile X syndrome: the temporal lobe. Neurology 44, 1317-1324.
    • (1994) Neurology , vol.44 , pp. 1317-1324
    • Reiss, A.L.1    Lee, J.2    Freund, L.3
  • 141
    • 27644487802 scopus 로고    scopus 로고
    • Motion processing specialization in Williams syndrome
    • Reiss J. E., Hoffman J. E. & Landau B. (2005) Motion processing specialization in Williams syndrome. Vision Research 45, 3379-3390.
    • (2005) Vision Research , vol.45 , pp. 3379-3390
    • Reiss, J.E.1    Hoffman, J.E.2    Landau, B.3
  • 142
    • 0032129473 scopus 로고    scopus 로고
    • Angelman syndrome: how many genes to remain silent?
    • Rougeulle C. & Lalande M. (1998) Angelman syndrome: how many genes to remain silent? Neurogenetics 1, 229-237.
    • (1998) Neurogenetics , vol.1 , pp. 229-237
    • Rougeulle, C.1    Lalande, M.2
  • 143
    • 34249951021 scopus 로고    scopus 로고
    • From genes to brain: understanding brain development in neurogenetic disorders using neuroimaging techniques
    • Schaer M. & Eliez S. (2007) From genes to brain: understanding brain development in neurogenetic disorders using neuroimaging techniques. Child and Adolescent Psychiatric clinics of Noth America 16, 557-579.
    • (2007) Child and Adolescent Psychiatric clinics of Noth America , vol.16 , pp. 557-579
    • Schaer, M.1    Eliez, S.2
  • 151
    • 0035883948 scopus 로고    scopus 로고
    • Health care management of adults with Down syndrome
    • Smith D. S. (2001) Health care management of adults with Down syndrome. American Family Physician 64, 1031-1038.
    • (2001) American Family Physician , vol.64 , pp. 1031-1038
    • Smith, D.S.1
  • 152
    • 0029012018 scopus 로고
    • Comparison of high resolution cytogenetics, fluorescence in situ hybridisation, and DNA studies to validate the diagnosis of Prader-Willi and Angelman's syndromes
    • Smith A., Prasad M., Deng Z. M., Robson L., Woodage T. & Trent R. J. (1995) Comparison of high resolution cytogenetics, fluorescence in situ hybridisation, and DNA studies to validate the diagnosis of Prader-Willi and Angelman's syndromes. Archives of Disease in Childhood 72, 397-402.
    • (1995) Archives of Disease in Childhood , vol.72 , pp. 397-402
    • Smith, A.1    Prasad, M.2    Deng, Z.M.3    Robson, L.4    Woodage, T.5    Trent, R.J.6
  • 154
    • 0037135296 scopus 로고    scopus 로고
    • Multi-modal P3 deflation of event-related brain activity in Prader-Willi syndrome
    • Stauder J. E., Brinkman M. J. & Curfs L. M. (2002) Multi-modal P3 deflation of event-related brain activity in Prader-Willi syndrome. Neuroscience Letters 327, 99-102.
    • (2002) Neuroscience Letters , vol.327 , pp. 99-102
    • Stauder, J.E.1    Brinkman, M.J.2    Curfs, L.M.3
  • 155
    • 0018422382 scopus 로고
    • X-linked mental retardation with macro-orchidism and the fragile site at Xq 27 or 28
    • Sutherland G. R. & Ashforth P. L. C. (1979) X-linked mental retardation with macro-orchidism and the fragile site at Xq 27 or 28. Human Genetics 48, 117-220.
    • (1979) Human Genetics , vol.48 , pp. 117-220
    • Sutherland, G.R.1    Ashforth, P.L.C.2
  • 156
    • 47349099529 scopus 로고    scopus 로고
    • Model syndromes for investigating social cognitive and affective neuroscience: a comparison of Autism and Williams syndrome
    • Tager-Flusberg H., Skwerer D. P. & Joseph R. M. (2006) Model syndromes for investigating social cognitive and affective neuroscience: a comparison of Autism and Williams syndrome. Social Cognitive and Affective Neuroscience 1, 175-182.
    • (2006) Social Cognitive and Affective Neuroscience , vol.1 , pp. 175-182
    • Tager-Flusberg, H.1    Skwerer, D.P.2    Joseph, R.M.3
  • 157
    • 71649104326 scopus 로고    scopus 로고
    • Meta-analysis of magnetic resonance imaging studies in chromosome 22q11.2 deletion syndrome (velocardiofacial syndrome)
    • Tan G. M., Arnone D., McIntosh A. M. & Ebmeier K. P. (2009) Meta-analysis of magnetic resonance imaging studies in chromosome 22q11.2 deletion syndrome (velocardiofacial syndrome). Schizophrenia Research 115, 173-181.
    • (2009) Schizophrenia Research , vol.115 , pp. 173-181
    • Tan, G.M.1    Arnone, D.2    McIntosh, A.M.3    Ebmeier, K.P.4
  • 159
    • 1842683970 scopus 로고    scopus 로고
    • Age-related cortical grey matter reductions in non-demented Down's syndrome adults determined by MRI with voxel-based morphometry
    • Teipel S. J., Alexander G. E., Schapiro M. B., Moller H. J., Rapoport S. I. & Hampel H. (2004) Age-related cortical grey matter reductions in non-demented Down's syndrome adults determined by MRI with voxel-based morphometry. Brain 127, 811-824.
    • (2004) Brain , vol.127 , pp. 811-824
    • Teipel, S.J.1    Alexander, G.E.2    Schapiro, M.B.3    Moller, H.J.4    Rapoport, S.I.5    Hampel, H.6
  • 162
  • 168
    • 73849089533 scopus 로고    scopus 로고
    • Insights into brain development from neurogenetic syndromes: evidence from fragile X syndrome, Williams syndrome, Turner syndrome and velocardiofacial syndrome
    • Walter E., Mazaika P. K. & Reiss A. L. (2009) Insights into brain development from neurogenetic syndromes: evidence from fragile X syndrome, Williams syndrome, Turner syndrome and velocardiofacial syndrome. Neuroscience 164, 257-271.
    • (2009) Neuroscience , vol.164 , pp. 257-271
    • Walter, E.1    Mazaika, P.K.2    Reiss, A.L.3
  • 169
    • 0027520462 scopus 로고
    • Williams syndrome, Down syndrome, and cognitive neuroscience
    • Wang P. P. & Bellugi U. (1993) Williams syndrome, Down syndrome, and cognitive neuroscience. American Journal of Diseases of Children 147, 1246-1251.
    • (1993) American Journal of Diseases of Children , vol.147 , pp. 1246-1251
    • Wang, P.P.1    Bellugi, U.2
  • 171
    • 0025876197 scopus 로고
    • Down syndrome: MR quantification of brain structures and comparison with normal control subjects
    • Weis S., Weber G., Neuhold A. & Rett A. (1991) Down syndrome: MR quantification of brain structures and comparison with normal control subjects. AJNR. American Journal of Neuroradiology 12, 1207-1211.
    • (1991) AJNR. American Journal of Neuroradiology , vol.12 , pp. 1207-1211
    • Weis, S.1    Weber, G.2    Neuhold, A.3    Rett, A.4
  • 172
    • 0141758248 scopus 로고    scopus 로고
    • A voxel-based morphometric study of nondemented adults with Down Syndrome
    • White N. S., Alkire M. T. & Haier R. J. (2003) A voxel-based morphometric study of nondemented adults with Down Syndrome. Neuroimage 20, 393-403.
    • (2003) Neuroimage , vol.20 , pp. 393-403
    • White, N.S.1    Alkire, M.T.2    Haier, R.J.3
  • 174
    • 12744269033 scopus 로고    scopus 로고
    • Neurological aspects of the Angelman syndrome
    • Williams C. A. (2005) Neurological aspects of the Angelman syndrome. Brain and Development 27, 88-94.
    • (2005) Brain and Development , vol.27 , pp. 88-94
    • Williams, C.A.1
  • 175
    • 33748419822 scopus 로고    scopus 로고
    • Brain developmental abnormalities in Prader-Willi syndrome detected by diffusion tensor imaging
    • Yamada K., Matsuzawa H., Uchiyama M., Kwee I. L. & Nakada T. (2006) Brain developmental abnormalities in Prader-Willi syndrome detected by diffusion tensor imaging. Pediatrics 118, e442-e448.
    • (2006) Pediatrics , vol.118
    • Yamada, K.1    Matsuzawa, H.2    Uchiyama, M.3    Kwee, I.L.4    Nakada, T.5
  • 176
    • 17144415267 scopus 로고    scopus 로고
    • Neuropsychological profile and neuroimaging in patients with 22Q11.2 Deletion Syndrome: a review
    • Zinkstok J. & van Amelsvoort T. (2005) Neuropsychological profile and neuroimaging in patients with 22Q11.2 Deletion Syndrome: a review. Child Neuropsychology 11, 21-37.
    • (2005) Child Neuropsychology , vol.11 , pp. 21-37
    • Zinkstok, J.1    van Amelsvoort, T.2


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