논문KCI 등재
Isolated 9p Duplication With der(Y)t(Y;9)(q12;p13.2) in a Male Patient With Cardiac Defect and Mental Retardation Confirmed by Chromosomal Microarray
대한진단검사의학회 (Korean Society For Laboratory Medicine)|2016.03|Annals of Laboratory Medicine|제36권 제2호|pp. 191-193
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참고문헌 (10)
- Guilherme RS, "Duplication 9p and their implication to phenotype", BMC Med Genet, 15, pp.142~ (2014)
- Teraoka M, "Maternal origin of a unique extra chromosome, der(9)(pter→q13:: q13→q12:) in a girl with typical trisomy 9p syndrome", Am J Med Genet, 102, pp.25~28 (2001)
- Haddad BR, "Molecular cytogenetic characterisation of the first familial case of partial 9p duplication (p22p24)", J Med Genet, 33, pp.1045~1047 (1996)
- Martíinez-Jacobo L, "Clinical and molecular delineation of duplication 9p24.3q21.11 in a patient with psychotic behavior", Gene, 560, pp.124~127 (2015)
- Abu-Amero KK, "A de novo marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: genotype-phenotype correlation", BMC Med Genet, 11, pp.135~ (2010)
- Zhou YC, "A patient with unusual features and a 69.5 Mb duplication from a de novo extra der (9): a case report", Mol Med Rep, 12, pp.155~158 (2015)
- "Am J Med Genet", 1979, 155~174
- Cooper DN, "Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease", Hum Genet, 132, pp.1077~1130 (2013)
- 우광숙, "t(9;21)(q13;21) 균형전좌 아버지로부터 출생한 9번 염색체 단완 및장완의 부분세염색체증후군", Annals of Laboratory Medicine, 28(2), pp.155~159 (2008), 대한진단검사의학회
- Redon R, "Global variation in copy number in the human genome", Nature, 444, pp.444~454 (2006)
관련 논문AI추천
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