메뉴 건너뛰기




Volumn 8, Issue 3, 2013, Pages

CNV Analysis in Tourette Syndrome Implicates Large Genomic Rearrangements in COL8A1 and NRXN1

(29)  Nag, Abhishek a   Bochukova, Elena G b   Kremeyer, Barbara a   Campbell, Desmond D a   Muller, Heike a   Valencia Duarte, Ana V c,d   Cardona, Julio c   Rivas, Isabel C c   Mesa, Sandra C c   Cuartas, Mauricio c   Garcia, Jharley c   Bedoya, Gabriel c   Cornejo, William c,d   Herrera, Luis D e   Romero, Roxana e   Fournier, Eduardo e   Reus, Victor I f   Lowe, Thomas L f   Farooqi, I Sadaf b   Mathews, Carol A f   more..


Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; COL8A1 GENE; CONTROLLED STUDY; COPY NUMBER VARIATION; FOLLOW UP; GENE; GENE DELETION; GENE DUPLICATION; GENE FUNCTION; GENE IDENTIFICATION; GENE LOCATION; GENE REARRANGEMENT; GENETIC ASSOCIATION; GENETIC VARIABILITY; GILLES DE LA TOURETTE SYNDROME; HUMAN; MAJOR CLINICAL STUDY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; NRXN1 GENE; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84875299901     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0059061     Document Type: Article
Times cited : (65)

References (32)
  • 1
    • 84870469320 scopus 로고    scopus 로고
    • American Psychiatric Association, Washington, DC: American Psychiatric Association
    • American Psychiatric Association (2000) Diagnostic and Statistical Manual of Mental Disorders. Washington, DC: American Psychiatric Association.
    • (2000) Diagnostic and Statistical Manual of Mental Disorders
  • 3
    • 22244463243 scopus 로고    scopus 로고
    • Tourette syndrome and chronic tics in a sample of children and adolescents
    • Saccomani L, Fabiana V, Manuela B, Giambattista R, (2005) Tourette syndrome and chronic tics in a sample of children and adolescents. Brain Dev 27: 349-352.
    • (2005) Brain Dev , vol.27 , pp. 349-352
    • Saccomani, L.1    Fabiana, V.2    Manuela, B.3    Giambattista, R.4
  • 6
    • 77957912870 scopus 로고    scopus 로고
    • The genetics of child psychiatric disorders: focus on autism and Tourette syndrome
    • State MW, (2010) The genetics of child psychiatric disorders: focus on autism and Tourette syndrome. Neuron 68: 254-269.
    • (2010) Neuron , vol.68 , pp. 254-269
    • State, M.W.1
  • 7
    • 79957627230 scopus 로고    scopus 로고
    • The genetics of Tourette disorder
    • State MW, (2011) The genetics of Tourette disorder. Curr Opin Genet Dev 21: 302-309.
    • (2011) Curr Opin Genet Dev , vol.21 , pp. 302-309
    • State, M.W.1
  • 9
    • 0038278610 scopus 로고    scopus 로고
    • CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder
    • Verkerk AJ, Mathews CA, Joosse M, Eussen BH, Heutink P, et al. (2003) CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder. Genomics 82: 1-9.
    • (2003) Genomics , vol.82 , pp. 1-9
    • Verkerk, A.J.1    Mathews, C.A.2    Joosse, M.3    Eussen, B.H.4    Heutink, P.5
  • 10
    • 26844498125 scopus 로고    scopus 로고
    • Sequence variants in SLITRK1 are associated with Tourette's syndrome
    • Abelson JF, Kwan KY, O'Roak BJ, Baek DY, Stillman AA, et al. (2005) Sequence variants in SLITRK1 are associated with Tourette's syndrome. Science 310: 317-320.
    • (2005) Science , vol.310 , pp. 317-320
    • Abelson, J.F.1    Kwan, K.Y.2    O'Roak, B.J.3    Baek, D.Y.4    Stillman, A.A.5
  • 12
    • 77952503974 scopus 로고    scopus 로고
    • Tourette syndrome is associated with recurrent exonic copy number variants
    • Sundaram SK, Huq AM, Wilson BJ, Chugani HT, (2010) Tourette syndrome is associated with recurrent exonic copy number variants. Neurology 74: 1583-1590.
    • (2010) Neurology , vol.74 , pp. 1583-1590
    • Sundaram, S.K.1    Huq, A.M.2    Wilson, B.J.3    Chugani, H.T.4
  • 13
    • 84858737859 scopus 로고    scopus 로고
    • Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism
    • Fernandez TV, Sanders SJ, Yurkiewicz IR, Ercan-Sencicek AG, Kim YS, et al. (2012) Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism. Biol Psychiatry 71: 392-402.
    • (2012) Biol Psychiatry , vol.71 , pp. 392-402
    • Fernandez, T.V.1    Sanders, S.J.2    Yurkiewicz, I.R.3    Ercan-Sencicek, A.G.4    Kim, Y.S.5
  • 14
    • 0038143616 scopus 로고    scopus 로고
    • Genetic demography of Antioquia (Colombia) and the Central Valley of Costa Rica
    • Carvajal-Carmona LG, Ophoff R, (2003) Service S, Hartiala J, Molina J, et al (2003) Genetic demography of Antioquia (Colombia) and the Central Valley of Costa Rica. Hum Genet 112: 534-541.
    • (2003) Hum Genet , vol.112 , pp. 534-541
    • Carvajal-Carmona, L.G.1    Ophoff, R.2    Service, S.3    Hartiala, J.4    Molina, J.5
  • 15
    • 33646375453 scopus 로고    scopus 로고
    • Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies
    • Service S, Deyoung J, Karayiorgou M, Roos JL, Pretorious H, et al (2006) Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies. Nat Genet 38: 556-560.
    • (2006) Nat Genet , vol.38 , pp. 556-560
    • Service, S.1    Deyoung, J.2    Karayiorgou, M.3    Roos, J.L.4    Pretorious, H.5
  • 16
    • 77954888136 scopus 로고    scopus 로고
    • Association of DRD2 variants and Gilles de la Tourette syndrome in a family-based sample from a South American population isolate
    • Herzberg I, Valencia-Duarte AV, Kay VA, White DJ, Muller H, et al. (2010) Association of DRD2 variants and Gilles de la Tourette syndrome in a family-based sample from a South American population isolate. Psychiatr Genet 20: 179-183.
    • (2010) Psychiatr Genet , vol.20 , pp. 179-183
    • Herzberg, I.1    Valencia-Duarte, A.V.2    Kay, V.A.3    White, D.J.4    Muller, H.5
  • 17
    • 33750209746 scopus 로고    scopus 로고
    • Convergent linkage evidence from two Latin American population isolates supports the presence of a susceptibility locus for bipolar disorder in 5q31-34
    • Herzberg I, Jasinska A, Garcia J, Jawaheer D, (2006) Service S, et al (2006) Convergent linkage evidence from two Latin American population isolates supports the presence of a susceptibility locus for bipolar disorder in 5q31-34. Hum Mol Genet 15: 3146-3153.
    • (2006) Hum Mol Genet , vol.15 , pp. 3146-3153
    • Herzberg, I.1    Jasinska, A.2    Garcia, J.3    Jawaheer, D.4    Service, S.5
  • 18
    • 41949133594 scopus 로고    scopus 로고
    • Geographic patterns of genome admixture in Latin American Mestizos
    • Wang S, Ray N, Rojas W, Parra MV, Bedoya G, et al. (2008) Geographic patterns of genome admixture in Latin American Mestizos. PLoS Genet 4: e1000037.
    • (2008) PLoS Genet , vol.4
    • Wang, S.1    Ray, N.2    Rojas, W.3    Parra, M.V.4    Bedoya, G.5
  • 19
    • 35948984173 scopus 로고    scopus 로고
    • PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data
    • Wang K, Li M, Hadley D, Liu R, Glessner J, et al. (2007) PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res 17: 1665-1674.
    • (2007) Genome Res , vol.17 , pp. 1665-1674
    • Wang, K.1    Li, M.2    Hadley, D.3    Liu, R.4    Glessner, J.5
  • 21
    • 33747820896 scopus 로고    scopus 로고
    • A patient with both Gilles de la Tourette's syndrome and chromosome 22q11 deletion syndrome: clue to the genetics of Gilles de la Tourette's syndrome?
    • Robertson MM, Shelley BP, Dalwai S, Brewer C, Critchley HD, (2006) A patient with both Gilles de la Tourette's syndrome and chromosome 22q11 deletion syndrome: clue to the genetics of Gilles de la Tourette's syndrome? J Psychosom Res 61: 365-368.
    • (2006) J Psychosom Res , vol.61 , pp. 365-368
    • Robertson, M.M.1    Shelley, B.P.2    Dalwai, S.3    Brewer, C.4    Critchley, H.D.5
  • 22
    • 79957595178 scopus 로고    scopus 로고
    • Tourette syndrome and klippel-feil anomaly in a child with chromosome 22q11 duplication
    • Clarke RA, Fang ZM, Diwan AD, Gilbert DL, (2009) Tourette syndrome and klippel-feil anomaly in a child with chromosome 22q11 duplication. Case Report Med 2009: 361518.
    • (2009) Case Report Med , vol.2009 , pp. 361518
    • Clarke, R.A.1    Fang, Z.M.2    Diwan, A.D.3    Gilbert, D.L.4
  • 25
    • 46249093584 scopus 로고    scopus 로고
    • Strong association of de novo copy number mutations with sporadic schizophrenia
    • Xu B, Roos JL, Levy S, van Rensburg EJ, Gogos JA, et al. (2008) Strong association of de novo copy number mutations with sporadic schizophrenia. Nat Genet 40: 880-885.
    • (2008) Nat Genet , vol.40 , pp. 880-885
    • Xu, B.1    Roos, J.L.2    Levy, S.3    van Rensburg, E.J.4    Gogos, J.A.5
  • 26
    • 77952544476 scopus 로고    scopus 로고
    • Copy number variation in Tourette syndrome: another case of neurodevelopmental generalist genes?
    • Scharf JM, Mathews CA, (2010) Copy number variation in Tourette syndrome: another case of neurodevelopmental generalist genes? Neurology 74: 1564-1565.
    • (2010) Neurology , vol.74 , pp. 1564-1565
    • Scharf, J.M.1    Mathews, C.A.2
  • 27
    • 70449724778 scopus 로고    scopus 로고
    • Copy-number variants in neurodevelopmental disorders: promises and challenges
    • Merikangas AK, Corvin AP, Gallagher L, (2009) Copy-number variants in neurodevelopmental disorders: promises and challenges. Trends Genet 25: 536-544.
    • (2009) Trends Genet , vol.25 , pp. 536-544
    • Merikangas, A.K.1    Corvin, A.P.2    Gallagher, L.3
  • 28
    • 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, et al. (2009) Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet 84: 148-161.
    • (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
  • 30
    • 67349182343 scopus 로고    scopus 로고
    • Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
    • Glessner JT, Wang K, Cai G, Korvatska O, Kim CE, et al. (2009) Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature 459: 569-573.
    • (2009) Nature , vol.459 , pp. 569-573
    • Glessner, J.T.1    Wang, K.2    Cai, G.3    Korvatska, O.4    Kim, C.E.5
  • 31
    • 50849107027 scopus 로고    scopus 로고
    • Novel roles for collagens in wiring the vertebrate nervous system
    • Fox MA, (2008) Novel roles for collagens in wiring the vertebrate nervous system. Curr Opin Cell Biol 20: 508-513.
    • (2008) Curr Opin Cell Biol , vol.20 , pp. 508-513
    • Fox, M.A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.