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Volumn 54, Issue 4, 2011, Pages

22q11.2 microduplication in a family with recurrent fetal congenital heart disease

Author keywords

22q11.2 microduplication; ArrayCGH; Recurrent congenital heart disease

Indexed keywords

ADULT; AORTA ARCH INTERRUPTION; ARTICLE; CASE REPORT; CHROMOSOME 22Q11.2 MICRODUPLICATION; CHROMOSOME DELETION 22Q11; CHROMOSOME DUPLICATION; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL HEART DISEASE; FALLOT TETRALOGY; FEMALE; FETUS; FETUS ECHOGRAPHY; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC VARIABILITY; GENOME ANALYSIS; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HUMAN TISSUE; INHERITANCE; KARYOTYPING; MALE; MICROARRAY ANALYSIS; PATENT DUCTUS ARTERIOSUS; PREGNANCY TERMINATION; PREGNANT WOMAN; SHORT TANDEM REPEAT; TRICUSPID VALVE ATRESIA;

EID: 79960100640     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.03.009     Document Type: Article
Times cited : (15)

References (12)
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  • 10
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    • Microduplication 22q11.2: a benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance? - report of two families
    • Courtens W., Schramme I., Laridon A. Microduplication 22q11.2: a benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance? - report of two families. Am. J. Med. Genet. A 2008, 146A:758-763.
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  • 12
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    • Familial 22q11.2 duplication: a three-generation family with a 3-Mb duplication and a familial 1.5-Mb duplication
    • Yu S., Cox K., Friend K., Smith S., Buchheim R., Bain S., Liebelt J., Thompson E., Bratkovic D. Familial 22q11.2 duplication: a three-generation family with a 3-Mb duplication and a familial 1.5-Mb duplication. Clin. Genet. 2008, 73:160-164.
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    • Yu, S.1    Cox, K.2    Friend, K.3    Smith, S.4    Buchheim, R.5    Bain, S.6    Liebelt, J.7    Thompson, E.8    Bratkovic, D.9


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.