메뉴 건너뛰기




Volumn 155, Issue 1, 2011, Pages 1-8

Neocortical and hippocampal volume loss in a human ciliopathy: A quantitative MRI study in Bardet-Biedl syndrome

Author keywords

Bardet Biedl syndrome; Ciliopathy; Hippocampus; Learning disability; MRI

Indexed keywords

ADOLESCENT; ADULT; ANATOMICAL VARIATION; ARTICLE; BARDET BIEDL SYNDROME; BEHAVIOR DISORDER; BRAIN SIZE; BRAIN VENTRICLE DILATATION; CEREBROSPINAL FLUID LEVEL; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GRAY MATTER; HIPPOCAMPUS; HUMAN; IMAGE DISPLAY; LEARNING DISORDER; MALE; MEDIAL LONGITUDINAL FASCICULUS; NEOCORTEX; NEUROANATOMY; NUCLEAR MAGNETIC RESONANCE IMAGING; ORBITAL CORTEX; PATHOLOGICAL ANATOMY; PRIORITY JOURNAL; QUALITATIVE ANALYSIS; QUANTITATIVE ANALYSIS; TEMPORAL LOBE; VOXEL BASED MORPHOMETRY; WHITE MATTER;

EID: 78650657113     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33773     Document Type: Article
Times cited : (47)

References (40)
  • 1
    • 43649099502 scopus 로고    scopus 로고
    • Recent advances in the molecular pathology, cell biology and genetics of ciliopathies
    • Adams M, Smith UM, Logan CV, Johnson CA. 2008. Recent advances in the molecular pathology, cell biology and genetics of ciliopathies. J Med Genet 45:257-267.
    • (2008) J Med Genet , vol.45 , pp. 257-267
    • Adams, M.1    Smith, U.M.2    Logan, C.V.3    Johnson, C.A.4
  • 3
    • 0011883960 scopus 로고
    • The development of a short questionnaire for use in epidemiological studies of depression in children and adolescents
    • Angold A, Costello EJ, Messer SC, Pickles A, Winder F, Silver D. 1995. The development of a short questionnaire for use in epidemiological studies of depression in children and adolescents. Int J Method Psychiatr Res 5:237-249.
    • (1995) Int J Method Psychiatr Res , vol.5 , pp. 237-249
    • Angold, A.1    Costello, E.J.2    Messer, S.C.3    Pickles, A.4    Winder, F.5    Silver, D.6
  • 5
    • 70449625440 scopus 로고    scopus 로고
    • Making sense of cilia in disease: The human ciliopathies
    • Baker K, Beales PL. 2009. Making sense of cilia in disease: The human ciliopathies. Am J Med Genet Part C 151C:281-295.
    • (2009) Am J Med Genet Part C , vol.151 C , pp. 281-295
    • Baker, K.1    Beales, P.L.2
  • 7
    • 0035261154 scopus 로고    scopus 로고
    • The autism-spectrum quotient (AQ): Evidence from Asperger syndrome/high-functioning autism, males and females, scientists and mathematicians
    • Baron-Cohen S, Wheelwright S, Skinner R, Martin J, Clubley E. 2001. The autism-spectrum quotient (AQ): Evidence from Asperger syndrome/high-functioning autism, males and females, scientists and mathematicians. J Autism Dev Disord 31:5-17.
    • (2001) J Autism Dev Disord , vol.31 , pp. 5-17
    • Baron-Cohen, S.1    Wheelwright, S.2    Skinner, R.3    Martin, J.4    Clubley, E.5
  • 9
    • 0033062278 scopus 로고    scopus 로고
    • New criteria for improved diagnosis of Bardet-Biedl syndrome: Results of a population survey
    • Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA. 1999. New criteria for improved diagnosis of Bardet-Biedl syndrome: Results of a population survey. J Med Genet 36:437-446.
    • (1999) J Med Genet , vol.36 , pp. 437-446
    • Beales, P.L.1    Elcioglu, N.2    Woolf, A.S.3    Parker, D.4    Flinter, F.A.5
  • 11
    • 38049092146 scopus 로고    scopus 로고
    • Type III adenylyl cyclase localizes to primary cilia throughout the adult mouse brain
    • Bishop GA, Berbari NF, Lewis J, Mykytyn K. 2007. Type III adenylyl cyclase localizes to primary cilia throughout the adult mouse brain. J Comp Neurol 505:562-571.
    • (2007) J Comp Neurol , vol.505 , pp. 562-571
    • Bishop, G.A.1    Berbari, N.F.2    Lewis, J.3    Mykytyn, K.4
  • 12
    • 72649100212 scopus 로고    scopus 로고
    • Imaging studies in congenital anophthalmia reveal preservation of brain architecture in 'visual' cortex
    • Bridge H, Cowey A, Ragge N, Watkins K. 2009. Imaging studies in congenital anophthalmia reveal preservation of brain architecture in 'visual' cortex. Brain 132:3467-3480.
    • (2009) Brain , vol.132 , pp. 3467-3480
    • Bridge, H.1    Cowey, A.2    Ragge, N.3    Watkins, K.4
  • 14
    • 35349012073 scopus 로고    scopus 로고
    • Intracranial arachnoid cysts: Current concepts and treatment alternatives
    • Cincu R, Agrawal A, Eiras J. 2007. Intracranial arachnoid cysts: Current concepts and treatment alternatives. Clin Neurol Neurosurg 109:837-843.
    • (2007) Clin Neurol Neurosurg , vol.109 , pp. 837-843
    • Cincu, R.1    Agrawal, A.2    Eiras, J.3
  • 16
    • 33748696963 scopus 로고    scopus 로고
    • A spatially unbiased atlas template of the human cerebellum
    • Diedrichsen J. 2006. A spatially unbiased atlas template of the human cerebellum. Neuroimage 33:127-138.
    • (2006) Neuroimage , vol.33 , pp. 127-138
    • Diedrichsen, J.1
  • 18
    • 20344401528 scopus 로고    scopus 로고
    • Incidental findings in brain computed tomography scans of 3000 head trauma patients
    • Eskandary H, Sabba M, Khajehpour F, Eskandari M. 2005. Incidental findings in brain computed tomography scans of 3000 head trauma patients. Surg Neurol 63:550-553.
    • (2005) Surg Neurol , vol.63 , pp. 550-553
    • Eskandary, H.1    Sabba, M.2    Khajehpour, F.3    Eskandari, M.4
  • 19
    • 1342281718 scopus 로고    scopus 로고
    • Neuronal primary cilia: A review
    • Fuchs JL, Schwark HD. 2004. Neuronal primary cilia: A review. Cell Biol Int 28:111-118.
    • (2004) Cell Biol Int , vol.28 , pp. 111-118
    • Fuchs, J.L.1    Schwark, H.D.2
  • 20
    • 34848889944 scopus 로고    scopus 로고
    • Developmental trajectories of brain structure in adolescents with 22q11.2 deletion syndrome: A longitudinal study
    • Gothelf D, Penniman L, Gu E, Eliez S, Reiss AL. 2007. Developmental trajectories of brain structure in adolescents with 22q11.2 deletion syndrome: A longitudinal study. Schizophr Res 96:72-81.
    • (2007) Schizophr Res , vol.96 , pp. 72-81
    • Gothelf, D.1    Penniman, L.2    Gu, E.3    Eliez, S.4    Reiss, A.L.5
  • 23
    • 77951208687 scopus 로고    scopus 로고
    • The role of primary cilia in neuronal function
    • Lee JH, Gleeson JG. 2010. The role of primary cilia in neuronal function. Neurobiol Dis 38:167-172.
    • (2010) Neurobiol Dis , vol.38 , pp. 167-172
    • Lee, J.H.1    Gleeson, J.G.2
  • 25
    • 0003402844 scopus 로고    scopus 로고
    • Atlas of the Human Brain
    • San Diego, USA, Academic Press.
    • Mai JK, Assheuer J, Paxinos G. 1997. Atlas of the Human Brain. San Diego, USA: Academic Press.
    • (1997)
    • Mai, J.K.1    Assheuer, J.2    Paxinos, G.3
  • 26
    • 33746528106 scopus 로고    scopus 로고
    • Cilia: Tuning in to the cell's antenna
    • Marshall WF, Nonaka S. 2006. Cilia: Tuning in to the cell's antenna. Curr Biol 16:R604-R614.
    • (2006) Curr Biol , vol.16
    • Marshall, W.F.1    Nonaka, S.2
  • 29
    • 34447571891 scopus 로고    scopus 로고
    • Progressive atrophy in the optic pathway and visual cortex of early blind Chinese adults: A voxel-based morphometry magnetic resonance imaging study
    • Pan WJ, Wu G, Li CX, Lin F, Sun J, Lei H. 2007. Progressive atrophy in the optic pathway and visual cortex of early blind Chinese adults: A voxel-based morphometry magnetic resonance imaging study. Neuroimage 37:212-220.
    • (2007) Neuroimage , vol.37 , pp. 212-220
    • Pan, W.J.1    Wu, G.2    Li, C.X.3    Lin, F.4    Sun, J.5    Lei, H.6
  • 30
    • 0029905766 scopus 로고    scopus 로고
    • Brain development, gender and IQ in children. A volumetric imaging study
    • Reiss AL, Abrams MT, Singer HS, Ross JL, Denckla MB. 1996. Brain development, gender and IQ in children. A volumetric imaging study. Brain 119:1763-1774.
    • (1996) Brain , vol.119 , pp. 1763-1774
    • Reiss, A.L.1    Abrams, M.T.2    Singer, H.S.3    Ross, J.L.4    Denckla, M.B.5
  • 36
    • 34249978500 scopus 로고    scopus 로고
    • Bardet-Biedl syndrome: Beyond the cilium
    • Tobin JL, Beales PL. 2007. Bardet-Biedl syndrome: Beyond the cilium. Pediatr Nephrol 22:926-936.
    • (2007) Pediatr Nephrol , vol.22 , pp. 926-936
    • Tobin, J.L.1    Beales, P.L.2
  • 37
    • 0003662802 scopus 로고    scopus 로고
    • Wechsler Abbreviated Scale of Intelligence (WASI)
    • San Antonio, TX, The Psychological Corporation.
    • Wechsler D. 1999. Wechsler Abbreviated Scale of Intelligence (WASI). San Antonio, TX: The Psychological Corporation.
    • (1999)
    • Wechsler, D.1
  • 39
    • 23744433732 scopus 로고    scopus 로고
    • Screening adults for Asperger syndrome using the AQ: A preliminary study of its diagnostic validity in clinical practice
    • Woodbury-Smith MR, Robinson J, Wheelwright S, Baron-Cohen S. 2005. Screening adults for Asperger syndrome using the AQ: A preliminary study of its diagnostic validity in clinical practice. J Autism Dev Disord 35:331-335.
    • (2005) J Autism Dev Disord , vol.35 , pp. 331-335
    • Woodbury-Smith, M.R.1    Robinson, J.2    Wheelwright, S.3    Baron-Cohen, S.4
  • 40
    • 65649147891 scopus 로고    scopus 로고
    • Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy
    • Zaghloul NA, Katsanis N. 2009. Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. J Clin Invest 119:428-437.
    • (2009) J Clin Invest , vol.119 , pp. 428-437
    • Zaghloul, N.A.1    Katsanis, N.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.