메뉴 건너뛰기




Volumn 135, Issue 10, 2012, Pages 3101-3114

Atypical face shape and genomic structural variants in epilepsy

Author keywords

dense surface models; dysmorphism; epilepsy; genomics; structural variants

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BIOINFORMATICS; BRAIN DEVELOPMENT; CHILD; CHROMOSOME ANALYSIS; CONTROLLED STUDY; DEMOGRAPHY; EPILEPSY; FACE; FACE DYSMORPHIA; FACE INJURY; FACIAL EXPRESSION; FEMALE; FOREBRAIN; GENE EXPRESSION; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; INTELLECTUAL IMPAIRMENT; MAJOR CLINICAL STUDY; MALE; MICROARRAY ANALYSIS; PREDICTIVE VALUE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SENSITIVITY AND SPECIFICITY; STEREOPHOTOGRAMMETRY;

EID: 84867700318     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/aws232     Document Type: Article
Times cited : (21)

References (71)
  • 1
    • 79954672317 scopus 로고    scopus 로고
    • Genome structural variation discovery and genotyping
    • Alkan C, Coe BP, Eichler EE. Genome structural variation discovery and genotyping. Nat Rev Genet 2011; 12: 363-76.
    • (2011) Nat Rev Genet , vol.12 , pp. 363-376
    • Alkan, C.1    Coe, B.P.2    Eichler, E.E.3
  • 2
    • 70350617664 scopus 로고    scopus 로고
    • Challenges for CNV interpretation in clinical molecular karyotyping: Lessons learned from a 1001 sample experience
    • Buysse K, Delle Chiaie B, Van Coster R, Loeys B, De Paepe A, Mortier G, et al. Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience. Eur J Med Genet 2009; 52: 398-403.
    • (2009) Eur J Med Genet , vol.52 , pp. 398-403
    • Buysse, K.1    Delle Chiaie, B.2    Van Coster, R.3    Loeys, B.4    De Paepe, A.5    Mortier, G.6
  • 3
    • 79960925707 scopus 로고    scopus 로고
    • Genomic microdeletions associated with epilepsy: Not a contraindication to resective surgery
    • Catarino CB, Kasperavic? iute-D, Thom M, Cavalleri GL, Martinian L, Heinzen EL, et al. Genomic microdeletions associated with epilepsy: not a contraindication to resective surgery. Epilepsia 2011; 52: 1388-92.
    • (2011) Epilepsia , vol.52 , pp. 1388-1392
    • Catarino, C.B.1    Kasperaviciute-d2    Thom, M.3    Cavalleri, G.L.4    Martinian, L.5    Heinzen, E.L.6
  • 5
    • 0024206733 scopus 로고
    • Collaborative Group for Epidemiology of EpilepsyAdverse reactions to antiepileptic drugs: A follow-up study of 355 patients with chronic antiepileptic drug treatment
    • Collaborative Group for Epidemiology of EpilepsyAdverse reactions to antiepileptic drugs: a follow-up study of 355 patients with chronic antiepileptic drug treatment. Epilepsia 1988; 29: 787-93.
    • (1988) Epilepsia , vol.29 , pp. 787-793
  • 6
    • 52949093111 scopus 로고    scopus 로고
    • Systematic assessment of copy number variant detection via genome-wide single nucleotide polymorphism genotyping
    • Cooper GM, Zerr T, Kidd JM, Eichler EE, Nickerson DA. Systematic assessment of copy number variant detection via genome-wide single nucleotide polymorphism genotyping. Nat Genet 2008; 40: 1199-203.
    • (2008) Nat Genet , vol.40 , pp. 1199-1203
    • Cooper, G.M.1    Zerr, T.2    Kidd, J.M.3    Eichler, E.E.4    Nickerson, D.A.5
  • 7
    • 79251475596 scopus 로고    scopus 로고
    • Cranial neural crest cells on the move: Their roles in craniofacial development
    • Cordero DR, Brugmann S, Chu Y, Bajpai R, Jame M, Helms JA. Cranial neural crest cells on the move: their roles in craniofacial development. Am J Med Genet A 2011; 155A: 270-9.
    • (2011) Am J Med Genet A , vol.155 , Issue.A , pp. 270-279
    • Cordero, D.R.1    Brugmann, S.2    Chu, Y.3    Bajpai, R.4    Jame, M.5    Helms, J.A.6
  • 9
    • 77950405093 scopus 로고    scopus 로고
    • Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
    • Craddock N, Hurles ME, Cardin N, Pearson RD, Plagnol V, Robson S, et al. Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature 2010; 464: 713-20.
    • (2010) Nature , vol.464 , pp. 713-720
    • Craddock, N.1    Hurles, M.E.2    Cardin, N.3    Pearson, R.D.4    Plagnol, V.5    Robson, S.6
  • 10
    • 74249088463 scopus 로고    scopus 로고
    • Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies
    • de Kovel CG, Trucks H, Helbig I, Mefford HC, Baker C, Leu C, et al. Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain 2009; 133: 23-32.
    • (2009) Brain , vol.133 , pp. 23-32
    • De Kovel, C.G.1    Trucks, H.2    Helbig, I.3    Mefford, H.C.4    Baker, C.5    Leu, C.6
  • 11
    • 70350774172 scopus 로고    scopus 로고
    • Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: Precedent for disorders with complex inheritance
    • Dibbens LM, Mullen S, Helbig I, Mefford HC, Bayly MA, Bellows S, et al. Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance. Hum Mol Genet 2009; 18: 3626-31.
    • (2009) Hum Mol Genet , vol.18 , pp. 3626-3631
    • Dibbens, L.M.1    Mullen, S.2    Helbig, I.3    Mefford, H.C.4    Bayly, M.A.5    Bellows, S.6
  • 13
    • 79960080588 scopus 로고    scopus 로고
    • The Deciphering Developmental Disorders (DDD) study
    • Firth HV, Wright CF, DDD Study. The Deciphering Developmental Disorders (DDD) study. Dev Med Child Neurol 2011; 53: 702-3.
    • (2011) Dev Med Child Neurol , vol.53 , pp. 702-703
    • Firth, H.V.1    Wright, C.F.2
  • 14
    • 84862212038 scopus 로고    scopus 로고
    • Array comparative genomic hybridization: Results from an adult population with drug-resistant epilepsy and co-morbidities
    • Galizia EC, Srikantha M, Palmer R, Waters JJ, Lench N, Ogilvie CM, et al. Array comparative genomic hybridization: results from an adult population with drug-resistant epilepsy and co-morbidities. Eur J Med Genet 2012; 55: 342-8.
    • (2012) Eur J Med Genet , vol.55 , pp. 342-348
    • Galizia, E.C.1    Srikantha, M.2    Palmer, R.3    Waters, J.J.4    Lench, N.5    Ogilvie, C.M.6
  • 15
    • 78650808443 scopus 로고    scopus 로고
    • Phenotypic variability and genetic susceptibility to genomic disorders
    • Girirajan S, Eichler EE. Phenotypic variability and genetic susceptibility to genomic disorders. Hum Mol Genet 2010; 19: R176-87.
    • (2010) Hum Mol Genet , vol.19
    • Girirajan, S.1    Eichler, E.E.2
  • 16
    • 33749626657 scopus 로고    scopus 로고
    • Reproducibility of soft tissue landmarks on three-dimensional facial scans
    • Gwilliam JR, Cunningham SJ, Hutton T. Reproducibility of soft tissue landmarks on three-dimensional facial scans. Eur J Orthod 2006; 28: 408-15.
    • (2006) Eur J Orthod , vol.28 , pp. 408-415
    • Gwilliam, J.R.1    Cunningham, S.J.2    Hutton, T.3
  • 17
    • 84864376164 scopus 로고    scopus 로고
    • Large-scale objective phenotyping of 3D facial morphology
    • Hammond P, Suttie M. Large-scale objective phenotyping of 3D facial morphology. Hum Mutat 2012; 33: 817-25.
    • (2012) Hum Mutat , vol.33 , pp. 817-825
    • Hammond, P.1    Suttie, M.2
  • 19
    • 36849077170 scopus 로고    scopus 로고
    • The use of 3D face shape modelling in dysmorphology
    • Hammond P. The use of 3D face shape modelling in dysmorphology. Arch Dis Child 2007; 92: 1120-6.
    • (2007) Arch Dis Child , vol.92 , pp. 1120-1126
    • Hammond, P.1
  • 23
    • 84859981667 scopus 로고    scopus 로고
    • A microdeletion proximal of the critical deletion region is associated with mild Wolf-Hirschhorn syndrome
    • Hannes F, Hammond P, Quarrell O, Fryns JP, Devriendt K, Vermeesch Jr. A microdeletion proximal of the critical deletion region is associated with mild Wolf-Hirschhorn syndrome. Am J Med Genet A 2012; 158A: 996-1004.
    • (2012) Am J Med Genet A , vol.158 , Issue.A , pp. 996-1004
    • Hannes, F.1    Hammond, P.2    Quarrell, O.3    Fryns, J.P.4    Devriendt, K.5    Vermeesch, J.R.6
  • 24
    • 70350338202 scopus 로고    scopus 로고
    • Genetic studies of craniofacial anomalies: Clinical implications and applications
    • Hart TC, Hart PS. Genetic studies of craniofacial anomalies: clinical implications and applications. Orthod Craniofac Res 2009; 12: 212-20.
    • (2009) Orthod Craniofac Res , vol.12 , pp. 212-220
    • Hart, T.C.1    Hart, P.S.2
  • 25
    • 77955491676 scopus 로고    scopus 로고
    • 3D digital stereophotogrammetry: A practical guide to facial image acquisition
    • Heike CL, Upson K, Stuhaug E, Weinberg SM. 3D digital stereophotogrammetry: a practical guide to facial image acquisition. Head Face Med 2010; 6: 18.
    • (2010) Head Face Med , vol.6 , pp. 18
    • Heike, C.L.1    Upson, K.2    Stuhaug, E.3    Weinberg, S.M.4
  • 29
    • 84864360759 scopus 로고    scopus 로고
    • Next-generation sequencing demands next-generation phenotyping
    • Hennekam RC, Biesecker LG. Next-generation sequencing demands next-generation phenotyping. Hum Mutat 2012; 33: 884-6.
    • (2012) Hum Mutat , vol.33 , pp. 884-886
    • Hennekam, R.C.1    Biesecker, L.G.2
  • 30
    • 34247612980 scopus 로고    scopus 로고
    • Three-dimensional laser surface imaging and geometric morphometrics resolve frontonasal dysmorphology in schizophrenia
    • Hennessy RJ, Baldwin PA, Browne DJ, Kinsella A, Waddington JL. Three-dimensional laser surface imaging and geometric morphometrics resolve frontonasal dysmorphology in schizophrenia. Biol Psychiatry 2007; 61: 1187-94.
    • (2007) Biol Psychiatry , vol.61 , pp. 1187-1194
    • Hennessy, R.J.1    Baldwin, P.A.2    Browne, D.J.3    Kinsella, A.4    Waddington, J.L.5
  • 31
    • 77956187052 scopus 로고    scopus 로고
    • Frontonasal dysmorphology in bipolar disorder by 3D laser surface imaging and geometric morphometrics: Comparisons with schizophrenia
    • Hennessy RJ, Baldwin PA, Browne DJ, Kinsella A, Waddington JL. Frontonasal dysmorphology in bipolar disorder by 3D laser surface imaging and geometric morphometrics: comparisons with schizophrenia. Schizophr Res 2010; 122: 63-71.
    • (2010) Schizophr Res , vol.122 , pp. 63-71
    • Hennessy, R.J.1    Baldwin, P.A.2    Browne, D.J.3    Kinsella, A.4    Waddington, J.L.5
  • 32
    • 67650659089 scopus 로고    scopus 로고
    • Array analysis and karyotyping: Workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands
    • Hochstenbach R, van Binsbergen E, Engelen J, Nieuwint A, Polstra A, Poddighe P, et al. Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands. Eur J Med Genet 2009; 52: 161-9.
    • (2009) Eur J Med Genet , vol.52 , pp. 161-169
    • Hochstenbach, R.1    Van Binsbergen, E.2    Engelen, J.3    Nieuwint, A.4    Polstra, A.5    Poddighe, P.6
  • 33
    • 0020757171 scopus 로고
    • The analysis of errors in orthodontic measurements
    • Houston WJ. The analysis of errors in orthodontic measurements. Am J Orthod 1983; 83: 382-90.
    • (1983) Am J Orthod , vol.83 , pp. 382-390
    • Houston, W.J.1
  • 34
    • 0042674015 scopus 로고    scopus 로고
    • Estimating average growth trajectories in shape-space using kernel smoothing
    • Hutton TJ, Buxton BF, Hammond P, Potts HW. Estimating average growth trajectories in shape-space using kernel smoothing. IEEE Trans Med Imaging 2003; 22: 747-53.
    • (2003) IEEE Trans Med Imaging , vol.22 , pp. 747-753
    • Hutton, T.J.1    Buxton, B.F.2    Hammond, P.3    Potts, H.W.4
  • 35
    • 62649088108 scopus 로고    scopus 로고
    • Population analysis of large copy number variants and hotspots of human genetic disease
    • Itsara A, Cooper GM, Baker C, Girirajan S, Li J, Absher D, et al. Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet 2009; 84: 148-61.
    • (2009) Am J Hum Genet , vol.84 , pp. 148-161
    • Itsara, A.1    Cooper, G.M.2    Baker, C.3    Girirajan, S.4    Li, J.5    Absher, D.6
  • 36
    • 84866369095 scopus 로고    scopus 로고
    • Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease
    • Advance Access published on Jun 26, 2012 doi: 10.1093/brain/aws161
    • Johnson JO, Gibbs JR, Megarbane A, Urtizberea JA, Hernandez DG, Foley AR, et al. Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease. Brain 2012. Advance Access published on Jun 26, 2012. doi: 10.1093/brain/aws161.
    • (2012) Brain
    • Johnson, J.O.1    Gibbs, J.R.2    Megarbane, A.3    Urtizberea, J.A.4    Hernandez, D.G.5    Foley, A.R.6
  • 37
    • 84888474837 scopus 로고    scopus 로고
    • Uncovering genomic causes of co-morbidity in epilepsy: Gene-driven phenotypic characterization of rare microdeletions
    • Kasperaviciute D, Catarino CB, Chinthapalli K, Clayton LM, Thom M, Martinian L, et al. Uncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletions. PLoS One 2011; 6: e23182.
    • (2011) PLoS One , vol.6
    • Kasperaviciute, D.1    Catarino, C.B.2    Chinthapalli, K.3    Clayton, L.M.4    Thom, M.5    Martinian, L.6
  • 39
    • 0043266332 scopus 로고
    • The role of genetics in craniofacial morphology and growth
    • Kohn L. The role of genetics in craniofacial morphology and growth. Annu Rev Anthropol 1991; 20: 261-78.
    • (1991) Annu Rev Anthropol , vol.20 , pp. 261-278
    • Kohn, L.1
  • 41
    • 79954599478 scopus 로고    scopus 로고
    • Mechanisms that underlie co-variation of the brain and face
    • Marcucio RS, Young NM, Hu D, Hallgrimsson B. Mechanisms that underlie co-variation of the brain and face. Genesis 2011; 49: 177-89.
    • (2011) Genesis , vol.49 , pp. 177-189
    • Marcucio, R.S.1    Young, N.M.2    Hu, D.3    Hallgrimsson, B.4
  • 45
  • 46
    • 65949085347 scopus 로고    scopus 로고
    • Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders
    • Miller DT, Shen Y, Weiss LA, Korn J, Anselm I, Bridgemohan C, et al. Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J Med Genet 2009; 46: 242-8.
    • (2009) J Med Genet , vol.46 , pp. 242-248
    • Miller, D.T.1    Shen, Y.2    Weiss, L.A.3    Korn, J.4    Anselm, I.5    Bridgemohan, C.6
  • 50
    • 84862777475 scopus 로고    scopus 로고
    • Genome-wide association study of threedimensional facial morphology identifies a variant in PAX3 associated with nasion position
    • Paternoster L, Zhurov AI, Toma Arshed M, Kemp JP, St Pourcain B, Timpson NJ, et al. Genome-wide association study of threedimensional facial morphology identifies a variant in PAX3 associated with nasion position. Am J Hum Genet 2012; 90: 478-85.
    • (2012) Am J Hum Genet , vol.90 , pp. 478-485
    • Paternoster, L.1    Zhurov, A.I.2    Toma Arshed, M.3    Kemp, J.P.4    St Pourcain, B.5    Timpson, N.J.6
  • 54
    • 63449115513 scopus 로고    scopus 로고
    • Array comparative genomic hybridization in patients with learning disability (mental retardation) and congenital anomalies: Updated systematic review and meta-analysis of 19 studies and 13,926 subjects
    • Sagoo GS, Butterworth AS, Sanderson S, Shaw-Smith C, Higgins JP, Burton H. Array comparative genomic hybridization in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects. Genet Med 2009; 11: 139-46.
    • (2009) Genet Med , vol.11 , pp. 139-146
    • Sagoo, G.S.1    Butterworth, A.S.2    Sanderson, S.3    Shaw-Smith, C.4    Higgins, J.P.5    Burton, H.6
  • 55
    • 80155139463 scopus 로고    scopus 로고
    • Intellectual developmental disorders: Towards a new name, definition and framework for "mental retardation/intellectual disability" in ICD-11
    • Salvador-Carulla L, Reed GM, Vaez-Azizi LM, Cooper SA, Martinez-Leal R, Bertelli M, et al. Intellectual developmental disorders: towards a new name, definition and framework for "mental retardation/intellectual disability" in ICD-11. World Psychiatry 2011; 10: 175-80.
    • (2011) World Psychiatry , vol.10 , pp. 175-180
    • Salvador-Carulla, L.1    Reed, G.M.2    Vaez-Azizi, L.M.3    Cooper, S.A.4    Martinez-Leal, R.5    Bertelli, M.6
  • 56
    • 39749154724 scopus 로고    scopus 로고
    • A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
    • Sharp AJ, Mefford HC, Li K, Baker C, Skinner C, Stevenson RE, et al. A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet 2008; 40: 322-8.
    • (2008) Nat Genet , vol.40 , pp. 322-328
    • Sharp, A.J.1    Mefford, H.C.2    Li, K.3    Baker, C.4    Skinner, C.5    Stevenson, R.E.6
  • 57
    • 79953042323 scopus 로고    scopus 로고
    • Genetic contribution to common epilepsies
    • Sisodiya SM, Mefford HC. Genetic contribution to common epilepsies. Curr Opin Neurol 2011; 24: 140-5.
    • (2011) Curr Opin Neurol , vol.24 , pp. 140-145
    • Sisodiya, S.M.1    Mefford, H.C.2
  • 58
    • 44249121777 scopus 로고    scopus 로고
    • Novel microdeletion syndromes detected by chromosome microarrays
    • Slavotinek AM. Novel microdeletion syndromes detected by chromosome microarrays. Hum Genet 2008; 124: 1-17.
    • (2008) Hum Genet , vol.124 , pp. 1-17
    • Slavotinek, A.M.1
  • 60
    • 84858602053 scopus 로고    scopus 로고
    • Clinical significance of rare copy number variations in epilepsy: A case-control survey using microarray-based comparative genomic hybridization
    • Striano P, Coppola A, Paravidino R, Malacarne M, Gimelli S, Robbiano A, et al. Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization. Arch Neurol 2012; 69: 322-30.
    • (2012) Arch Neurol , vol.69 , pp. 322-330
    • Striano, P.1    Coppola, A.2    Paravidino, R.3    Malacarne, M.4    Gimelli, S.5    Robbiano, A.6
  • 62
    • 44349147745 scopus 로고    scopus 로고
    • Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome
    • Tobin JL, Di Franco M, Eichers E, May-Simera H, Garcia M, Yan J, et al. Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome. Proc Natl Acad Sci USA 2008; 105: 6714-19.
    • (2008) Proc Natl Acad Sci USA , vol.105 , pp. 6714-6719
    • Tobin, J.L.1    Di Franco, M.2    Eichers, E.3    May-Simera, H.4    Garcia, M.5    Yan, J.6
  • 63
    • 64749091184 scopus 로고    scopus 로고
    • Reproducibility of facial soft tissue landmarks on 3D laser-scanned facial images
    • Toma AM, Zhurov A, Playle R, Ong E, Richmond S. Reproducibility of facial soft tissue landmarks on 3D laser-scanned facial images. Orthod Craniofac Res 2009; 12: 33-42.
    • (2009) Orthod Craniofac Res , vol.12 , pp. 33-42
    • Toma, A.M.1    Zhurov, A.2    Playle, R.3    Ong, E.4    Richmond, S.5
  • 64
    • 3042599203 scopus 로고    scopus 로고
    • Accidents in patients with epilepsy: Types, circumstances, and complications: A European cohort study
    • van den Broek M, Beghi E. Accidents in patients with epilepsy: types, circumstances, and complications: a European cohort study. Epilepsia 2004; 45: 667-72.
    • (2004) Epilepsia , vol.45 , pp. 667-672
    • Van Den Broek, M.1    Beghi, E.2
  • 66
    • 0032744665 scopus 로고    scopus 로고
    • Early cerebro-craniofacial dysmorphogenesis in schizophrenia: A lifetime trajectory model from neurodevelopmental basis to "neuroprogressive" process
    • Waddington JL, Lane A, Scully P, Meagher D, Quinn J, Larkin C, et al. Early cerebro-craniofacial dysmorphogenesis in schizophrenia: a lifetime trajectory model from neurodevelopmental basis to "neuroprogressive" process. J Psychiatr Res 1999; 33: 477-89.
    • (1999) J Psychiatr Res , vol.33 , pp. 477-489
    • Waddington, J.L.1    Lane, A.2    Scully, P.3    Meagher, D.4    Quinn, J.5    Larkin, C.6
  • 67
    • 33747612866 scopus 로고    scopus 로고
    • Anthropometric precision and accuracy of digital three-dimensional photogrammetry: Comparing the Genex and 3dMD imaging systems with one another and with direct anthropometry
    • Weinberg SM, Naidoo S, Govier DP, Martin RA, Kane AA, Marazita ML. Anthropometric precision and accuracy of digital three-dimensional photogrammetry: comparing the Genex and 3dMD imaging systems with one another and with direct anthropometry. J Craniofac Surg 2006; 17: 477-83.
    • (2006) J Craniofac Surg , vol.17 , pp. 477-483
    • Weinberg, S.M.1    Naidoo, S.2    Govier, D.P.3    Martin, R.A.4    Kane, A.A.5    Marazita, M.L.6
  • 68
    • 34548064335 scopus 로고    scopus 로고
    • Adult dysmorphology: Perspectives on approach to diagnosis and care
    • Williams MS. Adult dysmorphology: perspectives on approach to diagnosis and care. Am J Med Genet C Semin Med Genet 2007; 145C: 227-9.
    • (2007) Am J Med Genet C Semin Med Genet , vol.145 , Issue.C , pp. 227-229
    • Williams, M.S.1
  • 69
    • 0030031950 scopus 로고    scopus 로고
    • What's in a face?
    • Winter RM. What's in a face? Nat Genet 1996; 12: 124-9.
    • (1996) Nat Genet , vol.12 , pp. 124-129
    • Winter, R.M.1
  • 70
    • 84867727870 scopus 로고
    • F70-F79 mental retardation. In: The ICD-10 classification of mental and behavioural disorders: Clinical descriptions and diagnostic guidelines
    • World Health Organization
    • World Health Organization. F70-F79 mental retardation. In: The ICD-10 classification of mental and behavioural disorders: clinical descriptions and diagnostic guidelines. Geneva: World Health Organization; 1992. p. 174-80.
    • (1992) Geneva: World Health Organization , pp. 174-180
  • 71
    • 77649121644 scopus 로고    scopus 로고
    • Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: A multicenter experience of 1499 clinical cases
    • Xiang B, Zhu H, Shen Y, Miller DT, Lu K, Hu X, et al. Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: a multicenter experience of 1499 clinical cases. J Mol Diagn 2010; 12: 204-12.
    • (2010) J Mol Diagn , vol.12 , pp. 204-212
    • Xiang, B.1    Zhu, H.2    Shen, Y.3    Miller, D.T.4    Lu, K.5    Hu, X.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.