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Volumn 5, Issue 1, 2012, Pages

"Familial" versus "sporadic" intellectual disability: Contribution of common microdeletion and microduplication syndromes

Author keywords

Common Microdeletion and Microduplication Syndromes; Familial Intellectual Disability; Hereditary; Mental Retardation

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DISORDER; COMMON MICRODELETION AND MICRODUPLICATION SYNDROMES; CONTROLLED STUDY; FEMALE; HUMAN; INTELLECTUAL IMPAIRMENT; MAJOR CLINICAL STUDY; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PREVALENCE; PRIORITY JOURNAL; WILLIAMS BEUREN SYNDROME;

EID: 84856182566     PISSN: None     EISSN: 17558166     Source Type: Journal    
DOI: 10.1186/1755-8166-5-9     Document Type: Article
Times cited : (7)

References (15)
  • 5
    • 78650177637 scopus 로고    scopus 로고
    • The genetic basis of non-syndromic intellectual disability: A review
    • The genetic basis of non-syndromic intellectual disability: a review. Kaufman L, Ayub M, Vincent JB, J Neurodev Disord 2 182 209
    • J Neurodev Disord , vol.2 , pp. 182-209
    • Kaufman, L.1    Ayub, M.2    Vincent, J.B.3
  • 6
    • 77957968873 scopus 로고    scopus 로고
    • Genetics of early onset cognitive impairment
    • Genetics of early onset cognitive impairment. Ropers HH, Annu Rev Genomics Hum Genet 11 161 187
    • Annu Rev Genomics Hum Genet , vol.11 , pp. 161-187
    • Ropers, H.H.1
  • 7
    • 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
    • 10.1016/j.ejmg.2009.03.015 19362174
    • 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, Ruivenkamp C, Sikkema-Raddatz B, Smeets D, Poot M, Eur J Med Genet 2009 52 161 169 10.1016/j.ejmg.2009.03.015 19362174
    • (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    Ruivenkamp, C.7    Sikkema-Raddatz, B.8    Smeets, D.9    Poot, M.10
  • 10
    • 79960093690 scopus 로고    scopus 로고
    • Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries
    • Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries. Jehee FS, Takamori JT, Medeiros PF, Pordeus AC, Latini FR, Bertola DR, Kim CA, Passos-Bueno MR, Eur J Med Genet 54 425 432
    • Eur J Med Genet , vol.54 , pp. 5425-432
    • Jehee, F.S.1    Takamori, J.T.2    Medeiros, P.F.3    Pordeus, A.C.4    Latini, F.R.5    Bertola, D.R.6    Kim, C.A.7    Passos-Bueno, M.R.8
  • 11
    • 33846329439 scopus 로고    scopus 로고
    • MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions
    • DOI 10.1016/j.ejmg.2006.10.002, PII S1769721206001029
    • MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions. Kirchhoff M, Bisgaard AM, Bryndorf T, Gerdes T, Eur J Med Genet 2007 50 33 42 10.1016/j.ejmg.2006.10.002 17090394 (Pubitemid 46110981)
    • (2007) European Journal of Medical Genetics , vol.50 , Issue.1 , pp. 33-42
    • Kirchhoff, M.1    Bisgaard, A.-M.2    Bryndorf, T.3    Gerdes, T.4
  • 13
    • 44249121777 scopus 로고    scopus 로고
    • Novel microdeletion syndromes detected by chromosome microarrays
    • 10.1007/s00439-008-0513-9 18512078
    • Novel microdeletion syndromes detected by chromosome microarrays. Slavotinek AM, Hum Genet 2008 124 1 17 10.1007/s00439-008-0513-9 18512078
    • (2008) Hum Genet , vol.124 , pp. 1-17
    • Slavotinek, A.M.1
  • 14
    • 63449107365 scopus 로고    scopus 로고
    • The genomic basis of the Williams-Beuren syndrome
    • 10.1007/s00018-008-8401-y 19039520
    • The genomic basis of the Williams-Beuren syndrome. Schubert C, Cell Mol Life Sci 2009 66 1178 1197 10.1007/s00018-008-8401-y 19039520
    • (2009) Cell Mol Life Sci , vol.66 , pp. 1178-1197
    • Schubert, C.1
  • 15
    • 34548691008 scopus 로고    scopus 로고
    • The discovery of microdeletion syndromes in the post-genomic era: Review of the methodology and characterization of a new 1q41q42 microdeletion syndrome
    • DOI 10.1097/GIM.0b013e3181484b49, PII 0012581720070900000008
    • The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome. Shaffer LG, Theisen A, Bejjani BA, Ballif BC, Aylsworth AS, Lim C, McDonald M, Ellison JW, Kostiner D, Saitta S, Shaikh T, Genet Med 2007 9 607 616 10.1097/GIM.0b013e3181484b49 17873649 (Pubitemid 47415270)
    • (2007) Genetics in Medicine , vol.9 , Issue.9 , pp. 607-616
    • Shaffer, L.G.1    Theisen, A.2    Bejjani, B.A.3    Ballif, B.C.4    Aylsworth, A.S.5    Lim, C.6    McDonald, M.7    Ellison, J.W.8    Kostiner, D.9    Saitta, S.10    Shaikh, T.11


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.