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Volumn 527, Issue 2, 2013, Pages 694-697

Clinical and molecular description of the prenatal diagnosis of a fetus with a maternally inherited microduplication 22q11.2 of 2.5Mb

Author keywords

22q11.2; Array CGH; Microduplication; MLPA; Prenatal

Indexed keywords

ANTIBIOTIC AGENT;

EID: 84881541530     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.02.044     Document Type: Article
Times cited : (8)

References (5)
  • 1
    • 67649196114 scopus 로고    scopus 로고
    • A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review
    • (Jun 2)
    • Fernández L., et al. A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review. BMC Med. Genet. 2009, 10:48. (Jun 2).
    • (2009) BMC Med. Genet. , vol.10 , pp. 48
    • Fernández, L.1
  • 2
    • 84859408954 scopus 로고    scopus 로고
    • Co-existence of other copy number variations with 22q11.2 deletion or duplication: a modifier for variable phenotypes of the syndrome?
    • (9)
    • Li D., Tekin M., Buch M., Fan Y.S. Co-existence of other copy number variations with 22q11.2 deletion or duplication: a modifier for variable phenotypes of the syndrome?. Mol. Cytogenet. 2012, 5(1):18. (9).
    • (2012) Mol. Cytogenet. , vol.5 , Issue.1 , pp. 18
    • Li, D.1    Tekin, M.2    Buch, M.3    Fan, Y.S.4
  • 3
    • 67349189512 scopus 로고    scopus 로고
    • Microduplication 22q11.2: a new chromosomal syndrome
    • Portnoï M.F. Microduplication 22q11.2: a new chromosomal syndrome. Eur. J. Med. Genet. 2009, 52(2-3):88-93.
    • (2009) Eur. J. Med. Genet. , vol.52 , Issue.2-3 , pp. 88-93
    • Portnoï, M.F.1
  • 4
    • 80955141227 scopus 로고    scopus 로고
    • Molecular characterization of microduplication 22q11.2 in a girl with hypernasal speech
    • (21)
    • Soysal Y., Vermeesch J., Davani N.A., Şensoy N., Hekimler K., Imirzalioǧlu N. Molecular characterization of microduplication 22q11.2 in a girl with hypernasal speech. Genet. Mol. Res. 2011, 10(3):2148-2154. (21).
    • (2011) Genet. Mol. Res. , vol.10 , Issue.3 , pp. 2148-2154
    • Soysal, Y.1    Vermeesch, J.2    Davani, N.A.3    Şensoy, N.4    Hekimler, K.5    Imirzalioǧlu, N.6
  • 5
    • 84864424160 scopus 로고    scopus 로고
    • Microduplication 22q11.2: a description of the clinical, developmental and behavioral characteristics during childhood
    • Van Campenhout S., et al. Microduplication 22q11.2: a description of the clinical, developmental and behavioral characteristics during childhood. Genet. Couns. 2012, 23(2):135-148.
    • (2012) Genet. Couns. , vol.23 , Issue.2 , pp. 135-148
    • Van Campenhout, S.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.