메뉴 건너뛰기




Volumn 15, Issue 1, 1997, Pages 21-29

Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT;

EID: 1842413728     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0197-21     Document Type: Review
Times cited : (783)

References (86)
  • 1
    • 0028798546 scopus 로고
    • Apart syndrome results from localized mutations of FGF2 and is allelic with Crouzon syndrome
    • Wilkie, A. O. M. et al. Apart syndrome results from localized mutations of FGF2 and is allelic with Crouzon syndrome. Nature Genet. 9, 165-172 (1995).
    • (1995) Nature Genet. , vol.9 , pp. 165-172
    • Wilkie, A.O.M.1
  • 2
    • 0027981524 scopus 로고
    • Mutations in the fibroblast growth-factor receptor-2 gene cause Crouzon syndrome
    • Reardon, W. et al. Mutations in the fibroblast growth-factor receptor-2 gene cause Crouzon syndrome. Nature Genet. 8. 95-97 (1994).
    • (1994) Nature Genet. , vol.8 , pp. 95-97
    • Reardon, W.1
  • 3
    • 0029798614 scopus 로고    scopus 로고
    • Identical mutations in three different fibroblast growth factor genes in autosomal dominant craniosynostosis syndrome
    • Bellus, G. A. et ai Identical mutations in three different fibroblast growth factor genes in autosomal dominant craniosynostosis syndrome. Nature Genet. 14, 174-176(1996).
    • (1996) Nature Genet. , vol.14 , pp. 174-176
    • Bellus, G.A.1
  • 4
    • 0030070052 scopus 로고    scopus 로고
    • Positional cloning of a gene involved in the pathogenesis of Treacher-Collins syndrome
    • Dixon, J. et aJ. Positional cloning of a gene involved in the pathogenesis of Treacher-Collins syndrome. Nature Genet. 12, 130-136 (1996)
    • (1996) Nature Genet. , vol.12 , pp. 130-136
    • Dixon, J.1
  • 5
    • 16144368562 scopus 로고    scopus 로고
    • Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly
    • Belloni, E. et aJ. Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. Nature Genet. 14, 353-360 (1996).
    • (1996) Nature Genet. , vol.14 , pp. 353-360
    • Belloni, E.1
  • 6
    • 0030294408 scopus 로고    scopus 로고
    • Mutations in the human Sonic hedgehog gene cause holoprosencephaly
    • Roessler, E. et al. Mutations in the human Sonic hedgehog gene cause holoprosencephaly. Nature Genet. 14, 357-360 (1996).
    • (1996) Nature Genet. , vol.14 , pp. 357-360
    • Roessler, E.1
  • 7
    • 0026602124 scopus 로고
    • Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene
    • Tassabehji, M. et al. Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature 355, 635-636 (1992).
    • (1992) Nature , vol.355 , pp. 635-636
    • Tassabehji, M.1
  • 8
    • 0026584439 scopus 로고
    • An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome
    • Baldwin, C. T. , Hoth, CF. , Amos, J. A. , da-Silva, E. O. & Milunsky, A. An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. Nature 355, 637-638(1992).
    • (1992) Nature , vol.355 , pp. 637-638
    • Baldwin, C.T.1    Hoth, C.F.2    Amos, J.A.3    Da-Silva, E.O.4    Milunsky, A.5
  • 9
    • 0026315044 scopus 로고
    • Positional cloning and characterization of a paired box- And homeobox-containing gene from the aniridia region
    • Ton, C. C. T. et dl. Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region. Cell 67, 1059-1074 (1991).
    • (1991) Cell , vol.67 , pp. 1059-1074
    • Ton, C.C.T.1
  • 10
    • 0029871929 scopus 로고    scopus 로고
    • Altered growth and branching pattern in synpolydactyly caused by mutations in HoxD13
    • Muragaki, Y. , Mundlos, S. , Upton, J. & Olsen, B. R. Altered growth and branching pattern in synpolydactyly caused by mutations in HoxD13. Science 272, 548-550 (1996).
    • (1996) Science , vol.272 , pp. 548-550
    • Muragaki, Y.1    Mundlos, S.2    Upton, J.3    Olsen, B.R.4
  • 11
    • 0028939603 scopus 로고
    • Mutations in a putative global transcriptional regulator cause X-linked mental retardation with ctthalassemia (ATR-X syndrome)
    • Gibbons, R. J. , Picketts, D. J. , Villard, L & Higgs, D. R. Mutations in a putative global transcriptional regulator cause X-linked mental retardation with ctthalassemia (ATR-X syndrome). Cell 80, 837-846 (1995).
    • (1995) Cell , vol.80 , pp. 837-846
    • Gibbons, R.J.1    Picketts, D.J.2    Villard, L.3    Higgs, D.R.4
  • 12
    • 0028126564 scopus 로고
    • Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene : A putative Rho/Rac guanine nucleotide exchange factor
    • Pasteris, N. G. et at. Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene : a putative Rho/Rac guanine nucleotide exchange factor. Cell 79, 669-678 (1994).
    • (1994) Cell , vol.79 , pp. 669-678
    • Pasteris, N.G.1
  • 13
    • 0028135336 scopus 로고
    • Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
    • Foster, J. W. etal. Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature 372, 525-530 (1994).
    • (1994) Nature , vol.372 , pp. 525-530
    • Foster, J.W.1
  • 14
    • 0025812172 scopus 로고
    • Gli3 zinc-finger gene interrupted by translocations in Greig syndrome families
    • Vortkamp, A. , Gessler, M. & Grezschik, K. H. Gli3 zinc-finger gene interrupted by translocations in Greig syndrome families. Nature 352, 539-540 (1991).
    • (1991) Nature , vol.352 , pp. 539-540
    • Vortkamp, A.1    Gessler, M.2    Grezschik, K.H.3
  • 15
    • 0027984390 scopus 로고
    • Do we understand development?
    • Wolpert, L. Do we understand development? Science 266, 571-572(1994).
    • (1994) Science , vol.266 , pp. 571-572
    • Wolpert, L.1
  • 17
    • 0029945149 scopus 로고    scopus 로고
    • Limbs: A model for pattern formation within the vertebrate body plan
    • Cohn, M. J. & Tickle. C. Limbs: a model for pattern formation within the vertebrate body plan. Trends Genet. 12, 253-257 (1996).
    • (1996) Trends Genet. , vol.12 , pp. 253-257
    • Cohn, M.J.1    Tickle, C.2
  • 18
    • 0029100040 scopus 로고
    • Vertebrate limb development
    • Tickle, C. Vertebrate limb development. Curr. Opin. Genet. Dev. 5, 478-484 (1995).
    • (1995) Curr. Opin. Genet. Dev. , vol.5 , pp. 478-484
    • Tickle, C.1
  • 19
    • 0028949149 scopus 로고
    • The initiation of the limb bud: Growth factors
    • Tabin, C. The initiation of the limb bud: growth factors, Hox genes and retinoids. CeHSO, 671-674(1995).
    • (1995) Hox Genes and Retinoids. CeHSO , pp. 671-674
    • Tabin, C.1
  • 20
    • 0030043669 scopus 로고    scopus 로고
    • Molecular pathways controlling heart development
    • Olsen, E. N. & Srivastava, D. Molecular pathways controlling heart development. Science 272, 671-676 (1996).
    • (1996) Science , vol.272 , pp. 671-676
    • Olsen, E.N.1    Srivastava, D.2
  • 21
    • 0029900006 scopus 로고    scopus 로고
    • Developmental genetics of the heart
    • Burn, J. & Goodship, J. Developmental genetics of the heart. Curr. Opin. Genet. Dev. 6, 322-326(1996).
    • (1996) Curr. Opin. Genet. Dev. , vol.6 , pp. 322-326
    • Burn, J.1    Goodship, J.2
  • 22
    • 0030218262 scopus 로고    scopus 로고
    • Vertebrate heart development
    • Lyons, G. E. Vertebrate heart development. Curr. Opin. Genet. Dev. 6, 454-460 (1996).
    • (1996) Curr. Opin. Genet. Dev. , vol.6 , pp. 454-460
    • Lyons, G.E.1
  • 23
    • 0000846120 scopus 로고
    • Familial heart disease with skeletal malformations
    • Holt, M. & Qram, S. Familial heart disease with skeletal malformations. Br. Heart J. 22, 236-242 (1960).
    • (1960) Br. Heart J. , vol.22 , pp. 236-242
    • Holt, M.1    Qram, S.2
  • 25
    • 0013656160 scopus 로고
    • The genetics of hand malformations
    • Temtamy, S. & McKusick, V. The genetics of hand malformations. Birth Defects 14, 241-244(1978).
    • (1978) Birth Defects , vol.14 , pp. 241-244
    • Temtamy, S.1    McKusick, V.2
  • 26
    • 0025282412 scopus 로고
    • Heart-hand syndrome II: A report of Tabatznik syndrome with new findings
    • Silengo, M. C, Biagioli, M. , Guala, A. , Lopez-Bell, G. & Lala, R. Heart-hand syndrome II: a report of Tabatznik syndrome with new findings. Clin. Genet. 38, 105-113(1990).
    • (1990) Clin. Genet. , vol.38 , pp. 105-113
    • Silengo, M.C.1    Biagioli, M.2    Guala, A.3    Lopez-Bell, G.4    Lala, R.5
  • 27
    • 0018820469 scopus 로고
    • Heart-hand syndrome III: A new syndrome in three generations
    • Ruiz de la Fuente, S. & Prieto, F. Heart-hand syndrome III: a new syndrome in three generations. Hum. Genet. 55, 43-47 (1980).
    • (1980) Hum. Genet. , vol.55 , pp. 43-47
    • De La Ruiz Fuente, S.1    Prieto, F.2
  • 29
    • 0028363797 scopus 로고
    • Holt-Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12q
    • Terrett, J. A. et al. Holt-Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12q. Nature Genet. 6, 401-404 (1994).
    • (1994) Nature Genet. , vol.6 , pp. 401-404
    • Terrett, J.A.1
  • 30
    • 0028264450 scopus 로고
    • A gene for Holt-Oram syndrome maps to the distal long arm of chromosome 12
    • Bonnet, D. etal. A gene for Holt-Oram syndrome maps to the distal long arm of chromosome 12. Nature Genet. 6, 405-408 (1994).
    • (1994) Nature Genet. , vol.6 , pp. 405-408
    • Bonnet, D.1
  • 31
    • 0028281469 scopus 로고
    • The clinical and genetic spectrum of the Holt-Oram syndrome(heart-hand syndrome I)
    • Basson, CT. et al. The clinical and genetic spectrum of the Holt-Oram syndrome(heart-hand syndrome I). NewEngl. J. Med. 330, 885-891 (1994).
    • (1994) NewEngl. J. Med. , vol.330 , pp. 885-891
    • Basson, C.T.1
  • 32
    • 19244362469 scopus 로고    scopus 로고
    • A translocation at 12q2 refines the interval containing the Holt-Oram syndrome 1 gene
    • Terrett, J. A. et al. A translocation at 12q2 refines the interval containing the Holt-Oram syndrome 1 gene. Am. J. Hum. Genet. 59, 1337-1342(1996).
    • (1996) Am. J. Hum. Genet. , vol.59 , pp. 1337-1342
    • Terrett, J.A.1
  • 33
    • 0027370519 scopus 로고
    • CDNA libraries from human tissues and cell lines. Cytogenet
    • Swaroop, A. & Xu, J. cDNA libraries from human tissues and cell lines. Cytogenet. Cell Genet. 64, 292-294 (1993).
    • (1993) Cell Genet. , vol.64 , pp. 292-294
    • Swaroop, A.1    Xu, J.2
  • 34
    • 0026342613 scopus 로고
    • An analysis of vertebrate mRNA sequences: Intimations of translational control
    • Kozak. M. An analysis of vertebrate mRNA sequences: intimations of translational control. J. CellBiol. 115, 887-903(1991).
    • (1991) J. CellBiol. , vol.115 , pp. 887-903
    • Kozak, M.1
  • 35
    • 0025219563 scopus 로고
    • The mouse Brachyury and mesoderm formation
    • Willison. K. The mouse Brachyury and mesoderm formation. Trends Genet. 6, 104-105(1990).
    • (1990) Trends Genet. , vol.6 , pp. 104-105
    • Willison, K.1
  • 36
    • 0028031460 scopus 로고
    • The T genes in embryogenesis
    • Herrmann, B. C. & Kispert, A. The T genes in embryogenesis. Trends Genet. 10, 280-286(1994).
    • (1994) Trends Genet. , vol.10 , pp. 280-286
    • Herrmann, B.C.1    Kispert, A.2
  • 37
    • 0025062325 scopus 로고
    • Cloning of the T gene required in mesoderm formation in the mouse
    • Herrmann, B. C. , Labeit, S. , Poustka, A. , King, T. R. & Lehrach, H. Cloning of the T gene required in mesoderm formation in the mouse. Nature 343, 617-622 (1990).
    • (1990) Nature , vol.343 , pp. 617-622
    • Herrmann, B.C.1    Labeit, S.2    Poustka, A.3    King, T.R.4    Lehrach, H.5
  • 38
    • 0029165111 scopus 로고
    • The T protein encoded by Brachyury Is a tissue-specific transcription factor
    • Kispert, A. , Koschorz, B. & Herrman, B. G. The T protein encoded by Brachyury Is a tissue-specific transcription factor. EMBOJ. 14, 4763-4772 (1995).
    • (1995) EMBOJ. , vol.14 , pp. 4763-4772
    • Kispert, A.1    Koschorz, B.2    Herrman, B.G.3
  • 39
    • 0029966604 scopus 로고    scopus 로고
    • The human homologuer of the mouse T(Brachyury) gene: Gene structure, cDNA sequence and assignment to chromosome 6q27
    • Edwards. Y. H. etal. The human homologuer of the mouse T(Brachyury) gene: gene structure, cDNA sequence and assignment to chromosome 6q27. Genome Res, 6, 226-233(1996).
    • (1996) Genome Res , vol.6 , pp. 226-233
    • Edwards, Y.H.1
  • 40
    • 0025942785 scopus 로고
    • Expression of a Xenopus homolog of Brachyury (7) is an immediate-early response to mesoderm induction
    • Smith, J. C. , Price, B. M. J. , Green, J. B. A. , Weigel, D. & Herrmann, B. G. Expression of a Xenopus homolog of Brachyury (7) is an immediate-early response to mesoderm induction. Cell 67, 79-87 (1991).
    • (1991) Cell , vol.67 , pp. 79-87
    • Smith, J.C.1    Price, B.M.J.2    Green, J.B.A.3    Weigel, D.4    Herrmann, B.G.5
  • 41
    • 0027423420 scopus 로고
    • Induction of muscle pioneers and floor plate is distinguished by the zebrafish no tail mutation
    • Halpern, M. E. , Ho, R. K. , Walker, C. & Kimmel, C. B. Induction of muscle pioneers and floor plate is distinguished by the zebrafish no tail mutation. Celt 75, 99111(1993).
    • (1993) Celt , vol.75 , pp. 99111
    • Halpern, M.E.1    Ho, R.K.2    Walker, C.3    Kimmel, C.B.4
  • 43
    • 0026530830 scopus 로고
    • The lethal(l)optomotor-blind gene locus in Drosophlla melanogaster is a major orgnaizer of optic lobe development : Isolation and characterization of the gene
    • Pflugfelder, G. O. et al. The lethal(l)optomotor-blind gene locus in Drosophlla melanogaster is a major orgnaizer of optic lobe development : isolation and characterization of the gene. Proa. Natl. Acad. Sei. USA 89, 1199-1203 (1992).
    • (1992) Proa. Natl. Acad. Sei. USA , vol.89 , pp. 1199-1203
    • Pflugfelder, G.O.1
  • 44
    • 0025123814 scopus 로고
    • Genetic and molecular characterization of the optomotor -blind gene locus in Drosophila melanogaster
    • Pflugfelder, G. O. et al. Genetic and molecular characterization of the optomotor -blind gene locus in Drosophila melanogaster. Genetics 126, 91-104 (1990).
    • (1990) Genetics , vol.126 , pp. 91-104
    • Pflugfelder, G.O.1
  • 45
    • 0027129773 scopus 로고
    • A homology domain shared between Drosophila optomotor -blind and mouse Brachyury is involved in DNA binding
    • Pflugfelder, G. O. , Roth, H. & Poeck, B. A homology domain shared between Drosophila optomotor -blind and mouse Brachyury is involved in DNA binding. Biochem. Biophy. Res. Com. 186, 918-925 (1992a).
    • (1992) Biochem. Biophy. Res. Com. , vol.186 , pp. 918-925
    • Pflugfelder, G.O.1    Roth, H.2    Poeck, B.3
  • 46
    • 0028241951 scopus 로고
    • An ancient family of embryonically expressed mouse genes sharing a conserved protein motif with the T locus
    • Bollag, R. J. et al. An ancient family of embryonically expressed mouse genes sharing a conserved protein motif with the T locus. Nature Genet. 7, 383-389 (1994).
    • (1994) Nature Genet. , vol.7 , pp. 383-389
    • Bollag, R.J.1
  • 47
    • 0028942173 scopus 로고
    • Conservation of the T-box gene family from Mus muscu/us to Caenornac//t/se/egans
    • Agulnik, S. I. , Bollag, R. J. & Silver, L. M. Conservation of the T-box gene family from Mus muscu/us to Caenornac//t/se/egans. Genom/cs 25, 214-219(1995).
    • (1995) Genom/cs , vol.25 , pp. 214-219
    • Agulnik, S.I.1    Bollag, R.J.2    Silver, L.M.3
  • 48
    • 0029743355 scopus 로고    scopus 로고
    • Evolution of mouse T-box genes by tandem duplication and cluster dispersion
    • Agulnik, S. I. et al. Evolution of mouse T-box genes by tandem duplication and cluster dispersion. Genetics 144, 249-254 (1996).
    • (1996) Genetics , vol.144 , pp. 249-254
    • Agulnik, S.I.1
  • 49
    • 0029977495 scopus 로고    scopus 로고
    • Evidence of a role for T-box genes in the evolution of limb morphogenesis and the specification of forelimb/hindlimb identity
    • Gibson-Brown, J. J. et al. Evidence of a role for T-box genes in the evolution of limb morphogenesis and the specification of forelimb/hindlimb identity. Mech. Dev. 56, 93-101(1996).
    • (1996) Mech. Dev. , vol.56 , pp. 93-101
    • Gibson-Brown, J.J.1
  • 50
    • 9244225669 scopus 로고    scopus 로고
    • Genetic mapping of the human homologue(T) of mouse T(Brachyury) and a search for allele association between human 7 and spina bifida. Hum
    • Morrison, K. et al. Genetic mapping of the human homologue(T) of mouse T(Brachyury) and a search for allele association between human 7 and spina bifida. Hum. Mol. Genet. 5. 669-674(1996).
    • (1996) Mol. Genet. , vol.5 , pp. 669-674
    • Morrison, K.1
  • 51
    • 0028983389 scopus 로고
    • T-brain-1: A homolog of Brachyury whose expression defines molecularly distinct domains within the cerebral-cortex
    • Bulfone, A. etal. T-brain-1: a homolog of Brachyury whose expression defines molecularly distinct domains within the cerebral-cortex. Neuron 15, 63-78 (1995).
    • (1995) Neuron , vol.15 , pp. 63-78
    • Bulfone, A.1
  • 52
    • 0029100025 scopus 로고
    • Cloning and mapping of a human gene (TBX2) sharing a highly conserved protein motif with the Drosophila
    • Campbell, C. , Goodrich, K. , Casey, G. & Beatty, B. Cloning and mapping of a human gene (TBX2) sharing a highly conserved protein motif with the Drosophila omb gene. Genom/cs 28, 255-260 (1995).
    • (1995) Omb Gene. Genom/cs , vol.28 , pp. 255-260
    • Campbell, C.1    Goodrich, K.2    Casey, G.3    Beatty, B.4
  • 53
    • 0029400966 scopus 로고
    • Identification, characterization, and localization to chromosome 17q21-22 of the human TBX2 homolog, member of a conserved developmental gene family
    • Law, D. J. , Gebühr, T. , Garvey, N. , Agulnik, S. I. & Silver, L. M. Identification, characterization, and localization to chromosome 17q21-22 of the human TBX2 homolog, member of a conserved developmental gene family. Mamm. Genome 6, 793-797(1995).
    • (1995) Mamm. Genome , vol.6 , pp. 793-797
    • Law, D.J.1    Gebühr, T.2    Garvey, N.3    Agulnik, S.I.4    Silver, L.M.5
  • 54
    • 0027282961 scopus 로고
    • The Brachyury gene encodes a novel DNA binding protein
    • Kispert, A. & Herrman, B. G. The Brachyury gene encodes a novel DNA binding protein. EMBO Journal 12, 3211-3220(1993).
    • (1993) EMBO Journal , vol.12 , pp. 3211-3220
    • Kispert, A.1    Herrman, B.G.2
  • 55
    • 0029977067 scopus 로고    scopus 로고
    • Sex reversal by loss of the C-terminal transactivation domain of human SOX9
    • Südbeck, P. , Schmilz, M. L. . Baeuerle, P. A. & Scherer, G. Sex reversal by loss of the C-terminal transactivation domain of human SOX9. Nature Genet. 13, 230-232 (1996).
    • (1996) Nature Genet. , vol.13 , pp. 230-232
    • Südbeck, P.1    Schmilz, M.L.2    Baeuerle, P.A.3    Scherer, G.4
  • 56
    • 0004293174 scopus 로고
    • Churchill Livingstone, New York
    • Larsen, W. J. Human Embryology. 479 (Churchill Livingstone, New York, 1993).
    • (1993) Human Embryology. , vol.479
    • Larsen, W.J.1
  • 57
    • 0342658137 scopus 로고    scopus 로고
    • Expression of the T-box family genes, Tbxt-TbxS, during early mouse development
    • Chapman, D. L. et al. Expression of the T-box family genes, Tbxt-TbxS, during early mouse development. Dev. Dyn. 206, 379-390(1996).
    • (1996) Dev. Dyn. , vol.206 , pp. 379-390
    • Chapman, D.L.1
  • 58
    • 0028137737 scopus 로고
    • Bone morphogenetic proteins and a signalling pathway that controls patterning in the developing limb bud
    • Francis, P. M. , Richardson, M. K. , Brickell, P. M. & Tickle, C. Bone morphogenetic proteins and a signalling pathway that controls patterning in the developing limb bud. Development 120, 209-218 (1994).
    • (1994) Development , vol.120 , pp. 209-218
    • Francis, P.M.1    Richardson, M.K.2    Brickell, P.M.3    Tickle, C.4
  • 59
    • 0029149656 scopus 로고
    • Bone morphogenetic protein-4 is required for mesoderm formation and patterning in the mouse
    • Winnier, G. , Blessing, M. , Labosky, P. A. & Hogan, B. L. M. Bone morphogenetic protein-4 is required for mesoderm formation and patterning in the mouse. Genes Dev. 9, 2105-2116(1995).
    • (1995) Genes Dev. , vol.9 , pp. 2105-2116
    • Winnier, G.1    Blessing, M.2    Labosky, P.A.3    Hogan, B.L.M.4
  • 61
    • 0028077697 scopus 로고
    • Mapping a gene for Noonan syndrome to the long arm of chromosome 12
    • Jamieson, C. R. et aJ. Mapping a gene for Noonan syndrome to the long arm of chromosome 12. Nature Genet. 8, 357-360 (1994).
    • (1994) Nature Genet. , vol.8 , pp. 357-360
    • Jamieson, C.R.1
  • 62
    • 0028788308 scopus 로고
    • A gene for ulnar-mammary syndrome maps to I2q23-24. 1
    • Bamshad, M. et aJ. A gene for ulnar-mammary syndrome maps to I2q23-24. 1. Hum. Mol. Genet. 4, 1973-1977 (1995).
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 1973-1977
    • Bamshad, M.1
  • 63
    • 0009554306 scopus 로고
    • Congenital heart diseases in infancy and childhood, in Heart
    • Friedman, W. F. Congenital heart diseases in infancy and childhood, in Heart Disesse: A Textbook of Cardiovascular Medicine Vol. 2 (ed. Braunwald, E. ) 865-887 (WB Saunders, Philadelphia, 1992).
    • (1992) Disesse: a Textbook of Cardiovascular Medicine , vol.2 , pp. 865-887
    • Friedman, W.F.1
  • 64
    • 0012020324 scopus 로고
    • Genetics and cardiovascular disease, in Heart
    • Pyeritz, R. E. Genetics and cardiovascular disease, in Heart Disease: A Textbook of Cardiovascular Medicine Vol. 2 (ed. Braunwald, E. ) 1622-1655 (WB Saunders, Philadelphia, 1992).
    • (1992) Disease: a Textbook of Cardiovascular Medicine , vol.2 , pp. 1622-1655
    • Pyeritz, R.E.1
  • 65
    • 0027723477 scopus 로고
    • A 1st-generation physical map of the human genome
    • Cohen, D. , Chumakov, I. & Wessenbach, J. A 1st-generation physical map of the human genome. Nature 366, 698-701 (1993).
    • (1993) Nature , vol.366 , pp. 698-701
    • Cohen, D.1    Chumakov, I.2    Wessenbach, J.3
  • 66
    • 0028318417 scopus 로고
    • A new bacteriophage Pi-derived vector for the propagation of large human DMA fragments
    • loannou, P. A. et al. A new bacteriophage Pi-derived vector for the propagation of large human DMA fragments. Nature Genet. 6, 84-89 (1994).
    • (1994) Nature Genet. , vol.6 , pp. 84-89
    • Loannou, P.A.1
  • 67
    • 33847483014 scopus 로고
    • Transcription and physical mapping of human chromosome 12
    • Stottler, C. J. etal. Transcription and physical mapping of human chromosome 12. Am. J. Hum. Genet. 57 Suppl. A56 (1995)
    • (1995) Am. J. Hum. Genet. , vol.57
    • Stottler, C.J.1
  • 69
    • 0025978949 scopus 로고
    • Getting started with yeast
    • Sherman. F. Getting started with yeast. Methods Enzymol. 194, 3-21 (1991).
    • (1991) Methods Enzymol. , vol.194 , pp. 3-21
    • Sherman, F.1
  • 70
    • 1842411555 scopus 로고
    • Modified method for large scale isolation of Ti plasmid
    • Li, Q. Y. , Wang, J. S. & Fang, Z. D. Modified method for large scale isolation of Ti plasmid. Chinese J. Plant Path. 18, 225-227 (1988).
    • (1988) Chinese J. Plant Path. , vol.18 , pp. 225-227
    • Li, Q.Y.1    Wang, J.S.2    Fang, Z.D.3
  • 71
    • 0028231090 scopus 로고
    • The 1993-1994 Généthon human genetic linkage map
    • Gyapay, G. etal. The 1993-1994 Généthon human genetic linkage map. Nature Genet. 7, 246-339 (1994).
    • (1994) Nature Genet. , vol.7 , pp. 246-339
    • Gyapay, G.1
  • 72
    • 0028349073 scopus 로고
    • Isolation of human simple repeat loci by hybridization selection
    • Armour, J. A. L, Neumann, R. , Gobert, S. & Jeffreys. A. J. Isolation of human simple repeat loci by hybridization selection. Hum. Mol. Genet. 3, 599-605 (1994).
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 599-605
    • Armour, J.A.L.1    Neumann, R.2    Gobert, S.3    Jeffreys, A.J.4
  • 74
    • 0025339588 scopus 로고
    • A novel, rapid method for the isolation of terminal sequences from yeast artificial chromosome (YAC) clones
    • Riley, J. et al. A novel, rapid method for the isolation of terminal sequences from yeast artificial chromosome (YAC) clones. Nucl. Adds Res. 18, 2887-2890 (1990).
    • (1990) Nucl. Adds Res. , vol.18 , pp. 2887-2890
    • Riley, J.1
  • 76
    • 0026314693 scopus 로고
    • Generation and fluorescent in situ hybridization mapping of yeast artificial chromosomes of 1p, 17p, 17q, and 19q from a hybrid cell-line by high density screening of an amplified library
    • Driesen, M. S. etal. Generation and fluorescent in situ hybridization mapping of yeast artificial chromosomes of 1p, 17p, 17q, and 19q from a hybrid cell-line by high density screening of an amplified library. Genom/cs 11, 1079-1087 (1991).
    • (1991) Genom/cs , vol.11 , pp. 1079-1087
    • Driesen, M.S.1
  • 77
    • 0020793569 scopus 로고
    • A technique for radiolabeling DNA restriction endonuclease fragments to high specificity activity
    • Feinberg, A. P. & Vogelstein, B. A technique for radiolabeling DNA restriction endonuclease fragments to high specificity activity. Anal. Biochem. 132, 6-13 (1983).
    • (1983) Anal. Biochem. , vol.132 , pp. 6-13
    • Feinberg, A.P.1    Vogelstein, B.2
  • 78
    • 0028352313 scopus 로고
    • Isolation of genes from complex sources of mammalian genomic DNA using exon amplification
    • Church, D. M. etal. Isolation of genes from complex sources of mammalian genomic DNA using exon amplification. Nature Genet. 6, 98-105 (1994).
    • (1994) Nature Genet. , vol.6 , pp. 98-105
    • Church, D.M.1
  • 79
    • 0029865519 scopus 로고    scopus 로고
    • The identification of exons from the MED/PSACH region of human chromosome 19
    • Li, Q. Y. , Lennon, G. G. & Brook, J. D. The identification of exons from the MED/PSACH region of human chromosome 19. Genom/cs 32, 218-224 (1996).
    • (1996) Genom/cs , vol.32 , pp. 218-224
    • Li, Q.Y.1    Lennon, G.G.2    Brook, J.D.3
  • 80
    • 0028274619 scopus 로고
    • First-trimester fetal necroscopy after ultrasound guided aspiration
    • Soothill, P. W. & Rodeck, C. H. First-trimester fetal necroscopy after ultrasound guided aspiration, lancet 343, 1096-1097 (1994).
    • (1994) Lancet , vol.343 , pp. 1096-1097
    • Soothill, P.W.1    Rodeck, C.H.2
  • 81
    • 0028926771 scopus 로고
    • Induction of abortion with mifepristome (RU489) and oral or vaginal misoprostol
    • el-Refaey, H. , Rajasekar, D. , Abdalla, M. , Calder, L. & Templeton, A. Induction of abortion with mifepristome (RU489) and oral or vaginal misoprostol. NewEngl. J. Meet. 332, 983-987 (1995).
    • (1995) NewEngl. J. Meet. , vol.332 , pp. 983-987
    • Refaey, H.1    Rajasekar, D.2    Abdalla, M.3    Calder, L.4    Templeton, A.5
  • 83
    • 0030032280 scopus 로고    scopus 로고
    • The establishment of the hepatic architecture is a prerequisite for the development of a lobular pattern of gene-expression
    • Notenboom, R. G. E. , de Boer, P. A. J. , Moorman, A. F. M. & Lamers, W. H. The establishment of the hepatic architecture is a prerequisite for the development of a lobular pattern of gene-expression. Development 122, 321-332 (1996).
    • (1996) Development , vol.122 , pp. 321-332
    • Notenboom, R.G.E.1    De Boer, P.A.J.2    Moorman, A.F.M.3    Lamers, W.H.4
  • 84
    • 0001091072 scopus 로고
    • Detection of mutations by single-strand conformation polymorphism analysis, in
    • Warren, W. Detection of mutations by single-strand conformation polymorphism analysis, in Current Protocols in Human Genetics Vol. 2 (eds Dracopoli, N. C etal. ) 7. 4. 1-7. 4. 6. (John Wiley, New York, 1995).
    • (1995) Current Protocols in Human Genetics , vol.2
    • Warren, W.1
  • 86
    • 33847436049 scopus 로고
    • Mutations detection by cycle sequencing
    • (eds Dracopoli, N. C. etal. ) 7. 7. 1-7. 7. 6. John Wiley, New York
    • Thierfelder, L. Mutations detection by cycle sequencing, in Current Protocols in Human Genetics Vol. 2 (eds Dracopoli, N. C. etal. ) 7. 7. 1-7. 7. 6. (John Wiley, New York, 1995).
    • (1995) Current Protocols in Human Genetics , vol.2
    • Thierfelder, L.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.