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1p36单体综合征一例 被引量:1

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出处 《中华医学遗传学杂志》 CAS CSCD 北大核心 2005年第3期316-316,共1页 Chinese Journal of Medical Genetics
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  • 1Gajeeka M, Mackay KL, Shaffer LG. Mnosomy lp36 deletionsyndrome[J], Am J Med Genet C Semin Med Genet, 2007,145C(4):346-356.
  • 2Heilstedt HA,Ballif BC, Howard LA, et al. Population datasuggest that deletions of lp36 are a relatively commonchromosome abnormality [J ]. Clin Genet, 2003,64(4): 310-316.
  • 3Giannikou K, Fryssira H. Oikonomakis V,et al. Furtherdelineation of novel 1 p3 6 rearrangenicnt.s by array-C'GHanalysis: narrowing the breakpoints and clarifying the "exteiulcd" phenotype[J]. Gene. 2012, 506(2):360-368.
  • 4Bursztejn AC, Hronner M, Peudcnier S, et al. Molecularcharactvrizalion of a monosomy 1 p36 presenting as an Aicardisyndrome phenocopy[J]. Am J Med (icnot A,2009, 149A( 11):2493-2500.
  • 5Mefford Ht\ Eichlcr EK. Duplication hotspots, rare genomicdisorders. and common discase[J]. Curr ()pin Genet I)cv, 2009,19(3):196-204.
  • 6Miller I)T, Adam Ml), Aradhya S. et al. C'onscnsus statement:chromosomal microarray is a firsl-tier clinical diagnostic test forindividuals with developmenlal disabilities or congenilalanomalies[J]. Am J Hum Genet, 2010, 86(5):7.49-764.
  • 7Nakahara M,Shimozawa M, Nakamura Y, et al. A novelphospholipase C\ PLC(cta)2, is a neuron-specific isozyme[J]. JBiol Chem, 2005, 280(32):29128-29134.
  • 8Windpassingcr C, Kroisel PM, Wagner K, et al. I'he humangammci-aminobutyric acid 八 receptor delta ( (iAIilil)) ^ene:molecular characterisation and tissue-specific expression「J].Gene, 2002. 292( 1-2):25-31.
  • 9Colmcnares Heilstech HA, Shaffer IXi. el al. Loss of theSKI proto-oncogene in individuals affected with 1 p36 deletionsyndrome is predicted by strain dependent defects in Ski -'- micc[J]. Nat Gt'iiet. 2002, 30( 1) : 106-109.
  • 10Warren DS, Wolfe BO, Gould SJ. Phenotype-genotyperelationships in PEX10 -deficient peroxisome biogenesis disorderpatients[j]. Hum iMutat. 2000. 15(6) :509-521.

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