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Volumn 129, Issue 3, 2011, Pages 295-305

Transcriptomic analysis of cell-free fetal RNA suggests a specific molecular phenotype in trisomy 18

Author keywords

[No Author keywords available]

Indexed keywords

ESTRIOL; GUANINE NUCLEOTIDE BINDING PROTEIN; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 2; PHOSPHOTRANSFERASE; RNA;

EID: 79953766193     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-010-0923-3     Document Type: Article
Times cited : (44)

References (43)
  • 5
    • 0027955660 scopus 로고
    • Natural history of trisomy 18 and trisomy 13: I. Growth, physical assessment, medical histories, survival, and recurrence risk
    • DOI 10.1002/ajmg.1320490204
    • Baty BJ, Blackburn BL, Carey JC (1994a) Natural history of trisomy 18 and trisomy 13: I. Growth, physical assessment, medical histories, survival, and recurrence risk. Am J Med Genet 49:175-188 (Pubitemid 24018129)
    • (1994) American Journal of Medical Genetics , vol.49 , Issue.2 , pp. 175-188
    • Baty, B.J.1    Blackburn, B.L.2    Carey, J.C.3
  • 7
    • 0001677717 scopus 로고
    • Controlling the false discovery rate: A practical and powerful approach to multiple testing
    • Benjamini Y, Hochberg Y (1995) Controlling the false discovery rate: a practical and powerful approach to multiple testing. J Roy Stat Soc Ser B 57:289-300
    • (1995) J Roy Stat Soc Ser B , vol.57 , pp. 289-300
    • Benjamini, Y.1    Hochberg, Y.2
  • 13
    • 61449172037 scopus 로고    scopus 로고
    • Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources
    • Huang da W, Sherman BT, Lempicki RA (2009) Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources. Nat Protoc 4:44-57
    • (2009) Nat Protoc , vol.4 , pp. 44-57
    • Huang Da, W.1    Sherman, B.T.2    Lempicki, R.A.3
  • 14
    • 79953731269 scopus 로고    scopus 로고
    • Cell-free fetal nucleic acids in amniotic Xuid
    • Update (Oct 5 epub ahead of print)
    • Hui L, Bianchi DW (2010) Cell-free fetal nucleic acids in amniotic Xuid. Hum Reprod Update (Oct 5 epub ahead of print)
    • (2010) Hum Reprod
    • Hui, L.1    Bianchi, D.W.2
  • 16
    • 0027270349 scopus 로고
    • Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome [12]
    • Irons M, Elias ER, Salen G, Tint GS, Batta AK (1993) Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. Lancet 341:1414 (Pubitemid 23160017)
    • (1993) Lancet , vol.341 , Issue.8857 , pp. 1414
    • Irons, M.1    Elias, E.R.2    Salen, G.3    Tint, G.S.4    Batta, A.K.5
  • 17
    • 0033982936 scopus 로고    scopus 로고
    • KEGG: Kyoto Encyclopedia of Genes and Genomes
    • Kanehisa M, Goto S (2000) KEGG: Kyoto Encyclopedia of Genes and Genomes. Nucleic Acids Res 28:27-30 (Pubitemid 30047706)
    • (2000) Nucleic Acids Research , vol.28 , Issue.1 , pp. 27-30
    • Kanehisa, M.1    Goto, S.2
  • 19
    • 0023319957 scopus 로고
    • Trisomy 18 mosaicism in an adult with normal intelligence
    • Kohn G, Shohat M (1987) Trisomy 18 mosaicism in an adult with normal intelligence. Am J Med Genet 26:929-931
    • (1987) Am J Med Genet , vol.26 , pp. 929-931
    • Kohn, G.1    Shohat, M.2
  • 21
    • 0031857290 scopus 로고    scopus 로고
    • Interaction of reactive oxygen species with ion transport mechanisms
    • Kourie JI (1998) Interaction of reactive oxygen species with ion transport mechanisms. Am J Physiol 275:C1-C4
    • (1998) Am J Physiol , vol.275
    • Kourie, J.I.1
  • 22
    • 33644865457 scopus 로고    scopus 로고
    • Decreased cholesterol synthesis as a possible aetiological factor in malformations of Trisomy 18
    • DOI 10.1016/j.ejmg.2005.05.011, PII S1769721205001102
    • Lam WW, Kirk J, Manning N, Reardon W, Kelley RI, Fitzpatrick D (2006) Decreased cholesterol synthesis as a possible aetiological factor in malformations of trisomy 18. Eur J Med Genet 49:195-199 (Pubitemid 43374824)
    • (2006) European Journal of Medical Genetics , vol.49 , Issue.2 , pp. 195-199
    • Lam, W.W.K.1    Kirk, J.2    Manning, N.3    Reardon, W.4    Kelley, R.I.5    FitzPatrick, D.6
  • 24
    • 0028863142 scopus 로고
    • A novel serine/threonine kinase binding the Ras-related RhoA GTPase which translocates the kinase to peripheral membranes
    • Leung T, Manser E, Tan L, Lim L (1985) A novel serine/threonine kinase binding the Ras-related RhoA GTPase which translocates the kinase to peripheral membranes. J Biol Chem 270:29051-29054
    • (1985) J Biol Chem , vol.270 , pp. 29051-29054
    • Leung, T.1    Manser, E.2    Tan, L.3    Lim, L.4
  • 27
    • 0019505194 scopus 로고
    • Trisomy 18q. A case report and review of karyotype-phenotype correlations
    • Matsuoka R, Matsuyama S, Yamamoto Y, Kuroki Y, Matsui I (1981) Trisomy 18q: a case report and review of karyotype-phenotype correlations. Hum Genet 57:78-82 (Pubitemid 11139915)
    • (1981) Human Genetics , vol.57 , Issue.1 , pp. 78-82
    • Matsuoka, R.1    Matsuyama, S.2    Yamamoto, Y.3
  • 30
    • 41849137305 scopus 로고    scopus 로고
    • The risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18
    • DOI 10.1002/ajmg.a.32220
    • Morris JK, Savva GM (2008) The risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18. Am J Med Genet A 46A:827-832 (Pubitemid 351499786)
    • (2008) American Journal of Medical Genetics, Part A , vol.146 , Issue.7 , pp. 827-832
    • Morris, J.K.1    Sawa, G.M.2
  • 33
    • 47249119738 scopus 로고    scopus 로고
    • ROCK1 expression is regulated by TGFbeta3 and ALK2 during valvuloseptal endocardial cushion formation
    • DOI 10.1002/ar.20708
    • Sakabe M, Sakata H, Matsui H, Ikeda K, Yamagishi T, Nakajima Y (2008) ROCK1 expression is regulated by TGFbeta3 and ALK2 during valvuloseptal endocardial cushion formation. Anat Rec 291:845-857 (Pubitemid 351991159)
    • (2008) Anatomical Record , vol.291 , Issue.7 , pp. 845-857
    • Sakabe, M.1    Sakata, H.2    Matsui, H.3    Ikeda, K.4    Yamagishi, T.5    Nakajima, Y.6
  • 34
    • 0031045614 scopus 로고    scopus 로고
    • Whither Down syndrome critical regions?
    • Shapiro BL (1997) Whither Down syndrome critical regions? Hum Genet 99:421-423
    • (1997) Hum Genet , vol.99 , pp. 421-423
    • Shapiro, B.L.1
  • 35
    • 67249088582 scopus 로고    scopus 로고
    • Functional genomic analysis of amniotic fluid cell-free mRNA suggests that oxidative stress is significant in Down syndrome fetuses
    • Slonim DK, Koide K, Johnson KL, Tantravahi U, Cowan JM, Jarrah Z, Bianchi DW (2009) Functional genomic analysis of amniotic fluid cell-free mRNA suggests that oxidative stress is significant in Down syndrome fetuses. Proc Natl Acad Sci USA 106:9425-9429
    • (2009) Proc Natl Acad Sci USA , vol.106 , pp. 9425-9429
    • Slonim, D.K.1    Koide, K.2    Johnson, K.L.3    Tantravahi, U.4    Cowan, J.M.5    Jarrah, Z.6    Bianchi, D.W.7
  • 36
    • 0012707794 scopus 로고
    • A new autosomal trisomy syndrome: Multiple congenital anomalies caused by an extra chromosome
    • Smith DW, Patau K, Therman E, Inhorn SL (1960) A new autosomal trisomy syndrome: multiple congenital anomalies caused by an extra chromosome. J Pediatr 57:338-345
    • (1960) J Pediatr , vol.57 , pp. 338-345
    • Smith, D.W.1    Patau, K.2    Therman, E.3    Inhorn, S.L.4
  • 39
    • 77949351357 scopus 로고    scopus 로고
    • Lack of nAChr activity depresses cochlear maturation and up-regulates GABA system components: Temporal profiling of gene expression in alpha9-null mice
    • Turcan S, Slonim D, Vetter D (2010) Lack of nAChr activity depresses cochlear maturation and up-regulates GABA system components: temporal profiling of gene expression in alpha9-null mice. PLoS One 5:e9058
    • (2010) PLoS One , vol.5
    • Turcan, S.1    Slonim, D.2    Vetter, D.3
  • 40
    • 0017757317 scopus 로고
    • Trisomy 18qter and trisomy mapping of chromosome 18
    • Turleau C, de Grouchy J (1977) Trisomy 18qter and trisomy mapping of chromosome 18. Clin Genet 12:361-371 (Pubitemid 8244589)
    • (1977) Clinical Genetics , vol.12 , Issue.6 , pp. 361-371
    • Turleau, C.1    De Grouchy, J.2
  • 41
    • 0021359775 scopus 로고
    • Adrenal hypofunction and trisomy 18
    • Turner M, O'Herlihy C (1984) Adrenal hypofunction and trisomy 18. Obstet Gynecol 6(Suppl 3):84-95
    • (1984) Obstet Gynecol , vol.6 , Issue.SUPPL. 3 , pp. 84-95
    • Turner, M.1    O'Herlihy, C.2
  • 42
    • 0025253081 scopus 로고
    • Clinical management considerations in long-term survivors with trisomy 18
    • Van Dyke DC, Allen M (1990) Clinical management in long-term survivors with trisomy 18. Pediatrics 85:753-759 (Pubitemid 20144848)
    • (1990) Pediatrics , vol.85 , Issue.5 , pp. 753-759
    • Van Dyke, D.C.1    Allen, M.2
  • 43
    • 4644305814 scopus 로고    scopus 로고
    • Rho-associated kinases play a role in endocardial cell differentiation and migration
    • DOI 10.1016/j.ydbio.2004.08.002, PII S0012160604005160
    • Zhao Z, Rivkees SA (2004) Rho-associated kinases play a role in endocardial cell differentiation and migration. Devel Biol 275:183-191 (Pubitemid 39298183)
    • (2004) Developmental Biology , vol.275 , Issue.1 , pp. 183-191
    • Zhao, Z.1    Rivkees, S.A.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.