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Volumn 52, Issue 2-3, 2009, Pages 75-76

Emerging microdeletion and microduplication syndromes; the counseling paradigm

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME 16P; CHROMOSOME 22Q; CHROMOSOME 2Q; CHROMOSOME 3Q; CHROMOSOME 7Q; CHROMOSOME 8P; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DISORDER; CHROMOSOME DUPLICATION; CHROMOSOME MICRODELETION; CHROMOSOME MICRODUPLICATION; CLINICAL ASSESSMENT; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL DIAPHRAGM HERNIA; CONGENITAL MALFORMATION; DNA POLYMORPHISM; EDITORIAL; GENETIC COUNSELING; GENOTYPE PHENOTYPE CORRELATION; HIGH RESOLUTION COMPUTER TOMOGRAPHY; HUMAN; KARYOTYPE; MENTAL DEFICIENCY; PATIENT INFORMATION; PHENOTYPE; SYNDROME; VELOCARDIOFACIAL SYNDROME; WILLIAMS BEUREN SYNDROME;

EID: 67349167236     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2009.03.007     Document Type: Editorial
Times cited : (7)

References (18)
  • 5
    • 25144445260 scopus 로고    scopus 로고
    • Announcing "chromosomal imbalance letter"
    • Devriendt K. Announcing "chromosomal imbalance letter". Eur. J. Med. Genet. 48 (2005) 353-354
    • (2005) Eur. J. Med. Genet. , vol.48 , pp. 353-354
    • Devriendt, K.1
  • 9
    • 67349164801 scopus 로고    scopus 로고
    • A 785 kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosis
    • Pariani M.J., Spencer A., Graham Jr. J.M., and Rimoin D.L. A 785 kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosis. Eur. J. Med. Genet. 52 (2009)
    • (2009) Eur. J. Med. Genet. , vol.52
    • Pariani, M.J.1    Spencer, A.2    Graham Jr., J.M.3    Rimoin, D.L.4
  • 11
    • 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. 52 (2009)
    • (2009) Eur. J. Med. Genet. , vol.52
    • Portnoï, M.F.1
  • 15
    • 67349149182 scopus 로고    scopus 로고
    • Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome
    • Van Esch H., Backx L., Pijkels E., and Fryns J.P. Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome. Eur. J. Med. Genet. 52 (2009)
    • (2009) Eur. J. Med. Genet. , vol.52
    • Van Esch, H.1    Backx, L.2    Pijkels, E.3    Fryns, J.P.4
  • 17
    • 25144489055 scopus 로고    scopus 로고
    • From chromosomes to molecular kayotyping
    • Vermeesch J.R. From chromosomes to molecular kayotyping. Eur. J. Med. Genet. 48 (2005) 211-213
    • (2005) Eur. J. Med. Genet. , vol.48 , pp. 211-213
    • Vermeesch, J.R.1
  • 18
    • 67349088574 scopus 로고    scopus 로고
    • Clinical and molecular characterization of two patients with a 6,75 Mb overlapping 8p12-p21 deletion suggests two candidate loci for congenital heart defects in proximal 8p deletions
    • Willemsen M., de Leeuw N., Pfundt R., de Vries B., and Kleefstra T. Clinical and molecular characterization of two patients with a 6,75 Mb overlapping 8p12-p21 deletion suggests two candidate loci for congenital heart defects in proximal 8p deletions. Eur. J. Med. Genet. 52 (2009)
    • (2009) Eur. J. Med. Genet. , vol.52
    • Willemsen, M.1    de Leeuw, N.2    Pfundt, R.3    de Vries, B.4    Kleefstra, T.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.