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Volumn 39, Issue 2, 2009, Pages 322-329

A novel 6.14 Mb duplication of chromosome 8p21 in a patient with autism and self mutilation

Author keywords

Array comparative genomic hybridization; Autism spectrum disorder; Developmental delay; DPYSL2; Fluorescent in situ hybridization; Self mutilation; STMN4

Indexed keywords

COLLAPSIN RESPONSE MEDIATOR PROTEIN 2;

EID: 58549104711     PISSN: 01623257     EISSN: 15733432     Source Type: Journal    
DOI: 10.1007/s10803-008-0627-x     Document Type: Article
Times cited : (10)

References (28)
  • 1
    • 33645949077 scopus 로고    scopus 로고
    • Pre-linguistic autism diagnostic observation schedule adapted for older individuals with severe to profound mental retardation: A pilot study
    • 6. 10.1007/s10803-005-0027-4
    • SK Berument E Starr A Pickles K Papanikolauou C Lord 2005 Pre-linguistic autism diagnostic observation schedule adapted for older individuals with severe to profound mental retardation: a pilot study Journal of Autism and Developmental Disorders 35 6 821 829 10.1007/s10803-005-0027-4
    • (2005) Journal of Autism and Developmental Disorders , vol.35 , pp. 821-829
    • Berument, S.K.1    Starr, E.2    Pickles, A.3    Papanikolauou, K.4    Lord, C.5
  • 2
    • 3543049569 scopus 로고    scopus 로고
    • Interrelationship between autism diagnostic observation schedule-generic (ADOS-G), autism diagnostic interview-revised (ADI-R), and the diagnostic and statistical manual of mental disorders (DSM-IV-TR) classification in children and adolescents with mental retardation
    • 2. 10.1023/B:JADD.0000022604.22374.5f
    • A de Bildt S Sytema C Ketelaars D Kraijer E Mulder F Volkmar 2004 Interrelationship between autism diagnostic observation schedule-generic (ADOS-G), autism diagnostic interview-revised (ADI-R), and the diagnostic and statistical manual of mental disorders (DSM-IV-TR) classification in children and adolescents with mental retardation Journal of Autism and Developmental Disorders 34 2 129 137 10.1023/B:JADD.0000022604.22374.5f
    • (2004) Journal of Autism and Developmental Disorders , vol.34 , pp. 129-137
    • De Bildt, A.1    Sytema, S.2    Ketelaars, C.3    Kraijer, D.4    Mulder, E.5    Volkmar, F.6
  • 4
    • 34147123692 scopus 로고    scopus 로고
    • The autism diagnostic observation schedule: Revised algorithms for improved diagnostic validity
    • 4. 10.1007/s10803-006-0280-1
    • K Gotham S Risi A Pickles C Lord 2007 The autism diagnostic observation schedule: Revised algorithms for improved diagnostic validity Journal of Autism and Developmental Disorders 37 4 613 627 10.1007/s10803-006-0280-1
    • (2007) Journal of Autism and Developmental Disorders , vol.37 , pp. 613-627
    • Gotham, K.1    Risi, S.2    Pickles, A.3    Lord, C.4
  • 5
    • 0141744652 scopus 로고    scopus 로고
    • Deciphering the cellular functions of the Op18/Stathmin family of microtubule-regulators by plasma membrane-targeted localization
    • 9. 10.1091/mbc.E03-03-0126
    • P Holmfeldt K Brannstrom S Stenmark M Gullberg 2003 Deciphering the cellular functions of the Op18/Stathmin family of microtubule-regulators by plasma membrane-targeted localization Molecular Biology of the Cell 14 9 3716 3729 10.1091/mbc.E03-03-0126
    • (2003) Molecular Biology of the Cell , vol.14 , pp. 3716-3729
    • Holmfeldt, P.1    Brannstrom, K.2    Stenmark, S.3    Gullberg, M.4
  • 6
    • 35348897165 scopus 로고    scopus 로고
    • Molecular karyotyping in patients with mental retardation using 100 K single-nucleotide polymorphism arrays
    • 10. 10.1136/jmg.2007.050914
    • J Hoyer A Dreweke C Becker I Gohring CT Thiel MM Peippo 2007 Molecular karyotyping in patients with mental retardation using 100 K single-nucleotide polymorphism arrays Journal of Medical Genetics 44 10 629 636 10.1136/jmg.2007.050914
    • (2007) Journal of Medical Genetics , vol.44 , pp. 629-636
    • Hoyer, J.1    Dreweke, A.2    Becker, C.3    Gohring, I.4    Thiel, C.T.5    Peippo, M.M.6
  • 7
    • 33751257500 scopus 로고    scopus 로고
    • Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders
    • 11. 10.1136/jmg.2006.043166
    • ML Jacquemont D Sanlaville O Raoul V Cormier-Daire S Lyonnet 2006 Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders Journal of Medical Genetics 43 11 843 849 10.1136/jmg.2006.043166
    • (2006) Journal of Medical Genetics , vol.43 , pp. 843-849
    • Jacquemont, M.L.1    Sanlaville, D.2    Raoul, O.3    Cormier-Daire, V.4    Lyonnet, S.5
  • 8
    • 34147145963 scopus 로고    scopus 로고
    • Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation
    • 3-4. 10.1007/s00439-006-0284-0
    • VM Kalscheuer D FitzPatrick N Tommerup M Bugge E Niebuhr LM Neumann 2007 Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation Human Genetics 121 3-4 501 509 10.1007/s00439-006-0284-0
    • (2007) Human Genetics , vol.121 , pp. 501-509
    • Kalscheuer, V.M.1    Fitzpatrick, D.2    Tommerup, N.3    Bugge, M.4    Niebuhr, E.5    Neumann, L.M.6
  • 9
    • 1242286110 scopus 로고    scopus 로고
    • Associated medical disorders and disabilities in children with autistic disorder: A population-based study
    • 1. 10.1177/1362361304040638
    • M Kielinen H Rantala E Timonen SL Linna I Moilanen 2004 Associated medical disorders and disabilities in children with autistic disorder: a population-based study Autism 8 1 49 60 10.1177/1362361304040638
    • (2004) Autism , vol.8 , pp. 49-60
    • Kielinen, M.1    Rantala, H.2    Timonen, E.3    Linna, S.L.4    Moilanen, I.5
  • 10
    • 34248143695 scopus 로고    scopus 로고
    • FISH on chromosome preparations of peripheral blood
    • Springer Berlin
    • Liehr, T., & Claussen, U. (2002). FISH on chromosome preparations of peripheral blood. In B. Rautenstrauss & T. Liehr (Eds.), FISH technology (pp. 73-81). Berlin: Springer.
    • (2002) FISH Technology , pp. 73-81
    • Liehr, T.1    Claussen, U.2    Rautenstrauss, B.3    Liehr, T.4
  • 11
    • 0033802632 scopus 로고    scopus 로고
    • The autism diagnostic observation schedule-generic: A standard measure of social and communication deficits associated with the spectrum of autism
    • 3. 10.1023/A:1005592401947
    • C Lord S Risi L Lambrecht EH Cook BL Leventhal PC DiLavore 2000 The autism diagnostic observation schedule-generic: A standard measure of social and communication deficits associated with the spectrum of autism Journal of Autism and Developmental Disorders 30 3 205 223 10.1023/A:1005592401947
    • (2000) Journal of Autism and Developmental Disorders , vol.30 , pp. 205-223
    • Lord, C.1    Risi, S.2    Lambrecht, L.3    Cook, E.H.4    Leventhal, B.L.5    Dilavore, P.C.6
  • 12
    • 0027997172 scopus 로고
    • Autism diagnostic interview-revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders
    • 5. 10.1007/BF02172145
    • C Lord M Rutter A Le Couteur 1994 Autism diagnostic interview-revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders Journal of Autism and Developmental Disorders 24 5 659 685 10.1007/BF02172145
    • (1994) Journal of Autism and Developmental Disorders , vol.24 , pp. 659-685
    • Lord, C.1    Rutter, M.2    Le Couteur, A.3
  • 13
    • 24744457321 scopus 로고    scopus 로고
    • O-glycosylation of the tail domain of neurofilament protein M in human neurons and in spinal cord tissue of a rat model of amyotrophic lateral sclerosis (ALS)
    • 36. 10.1074/jbc.M504395200
    • N Ludemann A Clement VH Hans J Leschik C Behl R Brandt 2005 O-glycosylation of the tail domain of neurofilament protein M in human neurons and in spinal cord tissue of a rat model of amyotrophic lateral sclerosis (ALS) The Journal of Biological Chemistry 280 36 31648 31658 10.1074/jbc.M504395200
    • (2005) The Journal of Biological Chemistry , vol.280 , pp. 31648-31658
    • Ludemann, N.1    Clement, A.2    Hans, V.H.3    Leschik, J.4    Behl, C.5    Brandt, R.6
  • 16
    • 10744229245 scopus 로고    scopus 로고
    • Dense linkage disequilibrium mapping in the 15q11-q13 maternal expression domain yields evidence for association in autism
    • Nurmi, E. L., Amin, T., Olson, L. M., Jacobs, M. M., McCauley, J. L., Lam, A. Y., et al. (2003). Dense linkage disequilibrium mapping in the 15q11-q13 maternal expression domain yields evidence for association in autism. Molecular Psychiatry, 8(6), 624-634, 570.
    • (2003) Molecular Psychiatry , vol.8 , Issue.6 , pp. 624-634
    • Nurmi, E.L.1    Amin, T.2    Olson, L.M.3    Jacobs, M.M.4    McCauley, J.L.5    Lam, A.Y.6
  • 18
    • 33746314832 scopus 로고    scopus 로고
    • Searching for ways out of the autism maze: Genetic, epigenetic and environmental clues
    • 7. 10.1016/j.tins.2006.05.010
    • AM Persico T Bourgeron 2006 Searching for ways out of the autism maze: genetic, epigenetic and environmental clues Trends in Neurosciences 29 7 349 358 10.1016/j.tins.2006.05.010
    • (2006) Trends in Neurosciences , vol.29 , pp. 349-358
    • Persico, A.M.1    Bourgeron, T.2
  • 19
    • 1642401199 scopus 로고    scopus 로고
    • Insight into tubulin regulation from a complex with colchicine and a stathmin-like domain
    • 6979. 10.1038/nature02393
    • RB Ravelli B Gigant PA Curmi I Jourdain S Lachkar A Sobel 2004 Insight into tubulin regulation from a complex with colchicine and a stathmin-like domain Nature 428 6979 198 202 10.1038/nature02393
    • (2004) Nature , vol.428 , pp. 198-202
    • Ravelli, R.B.1    Gigant, B.2    Curmi, P.A.3    Jourdain, I.4    Lachkar, S.5    Sobel, A.6
  • 24
    • 34247481814 scopus 로고    scopus 로고
    • Strong association of de novo copy number mutations with autism
    • 5823. 10.1126/science.1138659
    • J Sebat B Lakshmi D Malhotra J Troge C Lese-Martin T Walsh 2007 Strong association of de novo copy number mutations with autism Science 316 5823 445 449 10.1126/science.1138659
    • (2007) Science , vol.316 , pp. 445-449
    • Sebat, J.1    Lakshmi, B.2    Malhotra, D.3    Troge, J.4    Lese-Martin, C.5    Walsh, T.6
  • 25
    • 9144240478 scopus 로고    scopus 로고
    • Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities
    • 6. 10.1086/379977
    • LE Vissers BB de Vries K Osoegawa IM Janssen T Feuth CO Choy 2003 Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities American Journal of Human Genetics 73 6 1261 1270 10.1086/379977
    • (2003) American Journal of Human Genetics , vol.73 , pp. 1261-1270
    • Vissers, L.E.1    De Vries, B.B.2    Osoegawa, K.3    Janssen, I.M.4    Feuth, T.5    Choy, C.O.6
  • 26
    • 32844460507 scopus 로고    scopus 로고
    • Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism
    • 1. 10.1038/sj.mp.4001781
    • JA Vorstman WG Staal E van Daalen H van Engeland PF Hochstenbach L Franke 2006 Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism Molecular Psychiatry 11 1 1 18-28 10.1038/sj.mp.4001781
    • (2006) Molecular Psychiatry , vol.11
    • Vorstman, J.A.1    Staal, W.G.2    Van Daalen, E.3    Van Engeland, H.4    Hochstenbach, P.F.5    Franke, L.6
  • 27
    • 33847219669 scopus 로고    scopus 로고
    • A review of gene linkage, association and expression studies in autism and an assessment of convergent evidence
    • 2. 10.1016/j.ijdevneu.2006.12.002
    • MS Yang M Gill 2007 A review of gene linkage, association and expression studies in autism and an assessment of convergent evidence International Journal of Developmental Neuroscience 25 2 69 85 10.1016/j.ijdevneu.2006.12.002
    • (2007) International Journal of Developmental Neuroscience , vol.25 , pp. 69-85
    • Yang, M.S.1    Gill, M.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.