메뉴 건너뛰기




Volumn 48, Issue 3, 2005, Pages 339-345

Interstitial 6q deletion: Clinical and array CGH characterisation of a new patient

Author keywords

6q; Array CGH; Interstitial deletion; Submicroscopic

Indexed keywords

ANAMNESIS; ARTICLE; CASE REPORT; CHROMOSOME 6Q; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME BAND; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; FACE DYSMORPHIA; FEMALE; GENETIC COUNSELING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; INTERSTITIAL CHROMOSOME DELETION; KARYOTYPING; LABORATORY TEST; MEDICAL CARE; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; PRESCHOOL CHILD;

EID: 25144508032     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2005.04.010     Document Type: Article
Times cited : (20)

References (21)
  • 1
    • 0242281980 scopus 로고    scopus 로고
    • Bioconductor R packages for exploratory analysis and normalization of cDNA microarray data
    • G. Parmigiani E. Garett R.A. Irizarry S.L. Zeger Springer New York
    • S. Dudoit, and Y.H. Yang Bioconductor R packages for exploratory analysis and normalization of cDNA microarray data G. Parmigiani E. Garett R.A. Irizarry S.L. Zeger The Analysis of Gene Expression Data: Methods and Software 2003 Springer New York 73 101
    • (2003) The Analysis of Gene Expression Data: Methods and Software , pp. 73-101
    • Dudoit, S.1    Yang, Y.H.2
  • 4
    • 0033951792 scopus 로고    scopus 로고
    • Interstitial 6q deletion with a Prader-Willi-like phenotype: A new case and review of the literature
    • H.J. Gilhuis, C.M. van Ravenswaaij, B.J. Hamel, and F.J. Gabreels Interstitial 6q deletion with a Prader-Willi-like phenotype: a new case and review of the literature Eur. J. Paediatr. Neurol. 4 2000 39 43
    • (2000) Eur. J. Paediatr. Neurol. , vol.4 , pp. 39-43
    • Gilhuis, H.J.1    Van Ravenswaaij, C.M.2    Hamel, B.J.3    Gabreels, F.J.4
  • 6
    • 0034016043 scopus 로고    scopus 로고
    • Profound obesity associated with a balanced translocation that disrupts the SIM1 gene
    • J.L. Holder Jr., N.F. Butte, and A.R. Zinn Profound obesity associated with a balanced translocation that disrupts the SIM1 gene Hum. Mol. Genet. 9 2000 101 108
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 101-108
    • Holder Jr., J.L.1    Butte, N.F.2    Zinn, A.R.3
  • 10
    • 2442666390 scopus 로고    scopus 로고
    • Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages
    • A.J. Schaeffer, J. Chung, K. Heretis, A. Wong, D.H. Ledbetter, and C. Lese Martin Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages Am. J. Hum. Genet. 74 2004 1168 1174
    • (2004) Am. J. Hum. Genet. , vol.74 , pp. 1168-1174
    • Schaeffer, A.J.1    Chung, J.2    Heretis, K.3    Wong, A.4    Ledbetter, D.H.5    Lese Martin, C.6
  • 11
    • 11144356173 scopus 로고    scopus 로고
    • Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features
    • C. Shaw-Smith, R. Redon, L. Rickman, M. Rio, L. Willatt, H. Fiegler, H. Firth, D. Sanlaville, R. Winter, L. Colleaux, M. Bobrow, and N.P. Carter Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features J. Med. Genet. 41 2004 241 248
    • (2004) J. Med. Genet. , vol.41 , pp. 241-248
    • Shaw-Smith, C.1    Redon, R.2    Rickman, L.3    Rio, M.4    Willatt, L.5    Fiegler, H.6    Firth, H.7    Sanlaville, D.8    Winter, R.9    Colleaux, L.10    Bobrow, M.11    Carter, N.P.12
  • 17
    • 0142217951 scopus 로고    scopus 로고
    • Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: A mosaic formed by a meiotic error at the 8p or gene and an independent terminal deletion event
    • J.R. Vermeesch, R. Thoelen, I. Salden, M. Raes, G. Matthijs, and J.P. Fryns Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: a mosaic formed by a meiotic error at the 8p OR gene and an independent terminal deletion event J. Med. Genet. 40 2003 e93
    • (2003) J. Med. Genet. , vol.40 , pp. 93
    • Vermeesch, J.R.1    Thoelen, R.2    Salden, I.3    Raes, M.4    Matthijs, G.5    Fryns, J.P.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.