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Volumn 838, Issue , 2012, Pages 29-75

Microdeletion and microduplication syndromes

Author keywords

Contiguous gene deletion duplication syndrome; Copy number variation; DNA microhomology; Genomic disorders; Higher order genomic structure; MMBIR; NAHR; NHEJ; Recurrent and nonrecurrent genomic rearrangements

Indexed keywords

ARTICLE; ASPIRATION PNEUMONIA; AUTISM; CHROMOSOME ABERRATION; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; DNA SEQUENCE; EPILEPSY; GENE DELETION; GENE DOSAGE; GENE DUPLICATION; GENE REARRANGEMENT; GENETIC PREDISPOSITION; GENETICS; HUMAN; HUMAN GENOME; INTELLECTUAL IMPAIRMENT; METHODOLOGY; OBESITY; PHENOTYPE; REPRODUCIBILITY; SCHIZOPHRENIA; SINGLE NUCLEOTIDE POLYMORPHISM; SYNDROME;

EID: 84856280414     PISSN: 10643745     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-61779-507-7_2     Document Type: Article
Times cited : (58)

References (230)
  • 1
    • 0031731487 scopus 로고    scopus 로고
    • Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits
    • DOI 10.1016/S0168-9525(98)01555-8
    • Lupski, J.R. (1998) Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet 14, 417-22. (Pubitemid 28505586)
    • (1998) Trends in Genetics , vol.14 , Issue.10 , pp. 417-422
    • Lupski, J.R.1
  • 2
    • 67649973564 scopus 로고    scopus 로고
    • Genomic disorders ten years on
    • Lupski, J.R. (2009) Genomic disorders ten years on. Genome Med 24, 1-42.
    • (2009) Genome Med , vol.24 , pp. 1-42
    • Lupski, J.R.1
  • 8
    • 34249680839 scopus 로고    scopus 로고
    • Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation
    • DOI 10.1016/j.gde.2007.04.009, PII S0959437X07000743
    • Stankiewicz, P., Beaudet, A.L. (2007) Use of arrayCGHin the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. Curr Opin Genet Dev 17, 182-92. (Pubitemid 46843553)
    • (2007) Current Opinion in Genetics and Development , vol.17 , Issue.3 , pp. 182-192
    • Stankiewicz, P.1    Beaudet, A.L.2
  • 9
    • 44249121777 scopus 로고    scopus 로고
    • Novel microdeletion syndromes detected by chromosome microarrays
    • Slavotinek, A.M. (2008) Novel microdeletion syndromes detected by chromosome microarrays. Hum Genet 124, 1-17.
    • (2008) Hum Genet , vol.124 , pp. 1-17
    • Slavotinek, A.M.1
  • 10
    • 77949831756 scopus 로고    scopus 로고
    • Structural variation in the human genome and its role in disease
    • Stankiewicz, P., Lupski, J.R. (2010) Structural variation in the human genome and its role in disease. Annu Rev Med 61, 437-55.
    • (2010) Annu Rev Med , vol.61 , pp. 437-55
    • Stankiewicz, P.1    Lupski, J.R.2
  • 11
    • 76549100511 scopus 로고    scopus 로고
    • Evolution in Health and Medicine Sackler Colloquium : Genomic disorders: A window into human gene and genome evolution
    • Carvalho, C.M.B., Zhang, F., Lupski JR. (2010) Evolution in Health and Medicine Sackler Colloquium : Genomic disorders: A window into human gene and genome evolution. PNAS 107, 1765-71.
    • (2010) PNAS , vol.107 , pp. 1765-71
    • Carvalho, C.M.B.1    Zhang, F.2    Lupski, J.R.3
  • 12
    • 0036468807 scopus 로고    scopus 로고
    • Genome architecture, rearrangements and genomic disorders
    • DOI 10.1016/S0168-9525(02)02592-1, PII S0168952501025926
    • Stankiewicz, P., Lupski, J.R. (2002) Genome architecture, rearrangements and genomic disorders. Trends Genet 18, 74-82. (Pubitemid 34127806)
    • (2002) Trends in Genetics , vol.18 , Issue.2 , pp. 74-82
    • Stankiewicz, P.1    Lupski, J.R.2
  • 13
    • 0034831138 scopus 로고    scopus 로고
    • Segmental duplications: Organization and impact within the current human genome project assembly
    • DOI 10.1101/gr.GR-1871R
    • Bailey, J.A., Yavor, A.M., Massa, H.F., Trask, B.J., Eichler, E.E. (2001) Segmental duplications: organization and impact within the current Human Genome Project assembly. Genome Res 11, 1005-17. (Pubitemid 32834546)
    • (2001) Genome Research , vol.11 , Issue.6 , pp. 1005-1017
    • Bailey, J.A.1    Yavor, A.M.2    Massa, H.F.3    Trask, B.J.4    Eichler, E.E.5
  • 14
    • 0035500899 scopus 로고    scopus 로고
    • Recent duplication, domain accretion and the dynamic mutation of the human genome
    • DOI 10.1016/S0168-9525(01)02492-1, PII S0168952501024921
    • Eichler, E.E. (2001) Recent duplication, domain accretion and the dynamic mutation of the human genome. Trends Genet 17, 661-9. (Pubitemid 32973826)
    • (2001) Trends in Genetics , vol.17 , Issue.11 , pp. 661-669
    • Eichler, E.E.1
  • 16
    • 37349109667 scopus 로고    scopus 로고
    • A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders
    • DOI 10.1016/j.cell.2007.11.037, PII S0092867407015413
    • Lee, J.A., Carvalho, C.M., Lupski, J.R. (2007) A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell 131, 1235-47. (Pubitemid 350297419)
    • (2007) Cell , vol.131 , Issue.7 , pp. 1235-1247
    • Lee, J.A.1    Carvalho, C.M.B.2    Lupski, J.R.3
  • 17
    • 59249105978 scopus 로고    scopus 로고
    • A microhomology-mediated break-induced replication model for the origin of human copy number variation
    • Hastings, P.J., Ira, G., Lupski, J.R. (2009) A microhomology-mediated break-induced replication model for the origin of human copy number variation. PLoS Genet 5, e1000327.
    • (2009) PLoS Genet , vol.5
    • Hastings, P.J.1    Ira, G.2    Lupski, J.R.3
  • 18
    • 0022916035 scopus 로고
    • Contiguous gene syndromes: A component of recognizable syndromes
    • Schmickel, R.D. (1986) Contiguous gene syndromes: a component of recognizable syndromes. J Pediatr 109, 231-41. (Pubitemid 16032516)
    • (1986) Journal of Pediatrics , vol.109 , Issue.2 , pp. 231-241
    • Schmickel, R.D.1
  • 22
    • 0033855389 scopus 로고    scopus 로고
    • Mechanisms of DNA double-strand break repair and their potential to induce chromosomal aberrations
    • Pfeiffer, P., Goedecke, W., Obe, G. (2000) Mechanisms of DNA double-strand break repair and their potential to induce chromosomal aberrations. Mutagenesis 15, 289-302. (Pubitemid 30612188)
    • (2000) Mutagenesis , vol.15 , Issue.4 , pp. 289-302
    • Pfeiffer, P.1    Goedecke, W.2    Obe, G.3
  • 23
    • 67649878596 scopus 로고    scopus 로고
    • The DNA replication FoSTeS/MMBIR mechanism can generate human genomic, genic, and exonic complex rearrangements
    • Zhang, F., Khajavi, M., Connolly, A.M., Towne, C.F., Batish, S.D., Lupski, J.R. (2009) The DNA replication FoSTeS/MMBIR mechanism can generate human genomic, genic, and exonic complex rearrangements. Nat Genet 41, 849-53.
    • (2009) Nat Genet , vol.41 , pp. 849-53
    • Zhang, F.1    Khajavi, M.2    Connolly, A.M.3    Towne, C.F.4    Batish, S.D.5    Lupski, J.R.6
  • 27
    • 65549090043 scopus 로고    scopus 로고
    • Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome
    • Yatsenko, S.A., Brundage, E.K., Roney, E.K., Cheung, S.W., Chinault, A.C., Lupski, J.R. (2009) Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome. Hum Mol Genet 18, 1924-36.
    • (2009) Hum Mol Genet , vol.18 , pp. 1924-36
    • Yatsenko, S.A.1    Brundage, E.K.2    Roney, E.K.3    Cheung, S.W.4    Chinault, A.C.5    Lupski, J.R.6
  • 29
    • 0034513406 scopus 로고    scopus 로고
    • Molecular mechanisms for constitutional chromosomal rearragements in humans
    • DOI 10.1146/annurev.genet.34.1.297
    • Shaffer, L.G., and Lupski J.R. (2000) Molecular mechanisms for constitutional chromosomal rearrangements in humans. Annu Rev Genet 34, 297-329. (Pubitemid 32065924)
    • (2000) Annual Review of Genetics , vol.34 , pp. 297-329
    • Shaffer, L.G.1    Lupski, J.R.2
  • 30
    • 34347349069 scopus 로고    scopus 로고
    • Genomic rearrangements and sporadic disease
    • DOI 10.1038/ng2084, PII NG2084
    • Lupski, J.R. (2007) Genomic rearrangements and sporadic disease. Nat Genet 39, S43-7. (Pubitemid 47014475)
    • (2007) Nature Genetics , vol.39 , Issue.SUPPL. 1
    • Lupski, J.R.1
  • 40
    • 0032830639 scopus 로고    scopus 로고
    • Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl- CpG-binding protein 2
    • DOI 10.1038/13810
    • Amir, R.E., Van den Veyver, I.B., Wan, M., Tran, C.Q., Francke, U., Zoghbi, H.Y. (1999) Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpGbinding protein 2. Nat Genet 23, 185-8. (Pubitemid 29455390)
    • (1999) Nature Genetics , vol.23 , Issue.2 , pp. 185-188
    • Amir, R.E.1    Van Den Veyver, I.B.2    Wan, M.3    Tran, C.Q.4    Francke, U.5    Zoghbi, H.Y.6
  • 42
    • 0344177207 scopus 로고    scopus 로고
    • Mutations in RAI1 associated with Smith-Magenis syndrome
    • DOI 10.1038/ng1126
    • Slager, R.E., Newton, T.L., Vlangos, C.N., Finucane, B., Elsea, S.H. (2003) Mutations in RAI1 associated with Smith-Magenis syndrome. Nat Genet 33, 466-8. (Pubitemid 36390007)
    • (2003) Nature Genetics , vol.33 , Issue.4 , pp. 466-468
    • Slager, R.E.1    Newton, T.L.2    Vlangos, C.N.3    Finucane, B.4    Elsea, S.H.5
  • 45
    • 2642565901 scopus 로고    scopus 로고
    • NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome
    • DOI 10.1038/ng1363
    • Tonkin, E. T., Wang, T.-J., Lisgo, S., Bamshad, M. J., Strachan, T. (2004) NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fl y Nipped-B, is mutated in Cornelia de Lange syndrome. Nat Genet 36, 636-41. (Pubitemid 38715993)
    • (2004) Nature Genetics , vol.36 , Issue.6 , pp. 636-641
    • Tonkin, E.T.1    Wang, T.-J.2    Lisgo, S.3    Bamshad, M.J.4    Strachan, T.5
  • 49
    • 24944478689 scopus 로고    scopus 로고
    • Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH)
    • DOI 10.1136/jmg.2004.029637
    • Schoumans, J., Ruivenkamp, C., Holmberg, E., Kyllerman, M., Anderlid, B.M., Nordenskjold, M. (2005) Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH). J Med Genet 42, 699-705. (Pubitemid 41306060)
    • (2005) Journal of Medical Genetics , vol.42 , Issue.9 , pp. 699-705
    • Schoumans, J.1    Ruivenkamp, C.2    Holmberg, E.3    Kyllerman, M.4    Anderlid, B.-M.5    Nordenskjold, M.6
  • 53
    • 51649107017 scopus 로고    scopus 로고
    • Rare chromosomal deletions and duplications increase risk of schizophrenia
    • International Schizophrenia Consortium
    • International Schizophrenia Consortium. (2008) Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 455, 237-41.
    • (2008) Nature , vol.455 , pp. 237-41
  • 69
    • 70350336003 scopus 로고    scopus 로고
    • Genomic sister-disorders of neurodevelopment: An evolutionary approach
    • Crespi, B., Summers, K., Dorus, S. (2009) Genomic sister-disorders of neurodevelopment: an evolutionary approach. Evolutionary Applications 2, 81-100.
    • (2009) Evolutionary Applications , vol.2 , pp. 81-100
    • Crespi, B.1    Summers, K.2    Dorus, S.3
  • 70
    • 76549129054 scopus 로고    scopus 로고
    • Evolution in health and medicine sackler colloquium: Comparative genomics of autism and schizophrenia
    • Crespi, B., Stead, P., Elliot, M. (2010) Evolution in health and medicine sackler colloquium: comparative genomics of autism and schizophrenia. Proc Natl Acad Sci USA 107, Suppl: 1736-41.
    • (2010) Proc Natl Acad Sci USA , vol.107 , Issue.SUPPL. , pp. 1736-1741
    • Crespi, B.1    Stead, P.2    Elliot, M.3
  • 74
    • 4644236043 scopus 로고    scopus 로고
    • Causal relation between α-synuclein gene duplication and familial Parkinson's disease
    • DOI 10.1016/S0140-6736(04)17104-3, PII S0140673604171043
    • Ibáñez, P., Bonnet, A.M., Debarges, B., Lohmann, E., Tison, F., Pollak, P., Agid, Y., Dürr, A., Brice, A. (2004) Causal relation between alpha-synuclein gene duplication and familial Parkinsons disease. Lancet 364, 1169-71. (Pubitemid 39296605)
    • (2004) Lancet , vol.364 , Issue.9440 , pp. 1169-1171
    • Ibanez, P.1    Bonnet, A.-M.2    Debarges, B.3    Lohmann, E.4    Tison, F.5    Pollak, P.6    Agid, Y.7    Durr, A.8    Brice, P.A.9
  • 75
    • 33751546259 scopus 로고    scopus 로고
    • Hereditary pancreatitis caused by triplication of the trypsinogen locus
    • DOI 10.1038/ng1904, PII NG1904
    • Le Maréchal, C., Masson, E., Chen, J.M., Morel, F., Ruszniewski, P., Levy, P., Férec, C. (2006) Hereditary pancreatitis caused by triplication of the trypsinogen locus. Nat Genet 38, 1372-4. (Pubitemid 44837557)
    • (2006) Nature Genetics , vol.38 , Issue.12 , pp. 1372-1374
    • Le Marechal, C.1    Masson, E.2    Chen, J.-M.3    Morel, F.4    Ruszniewski, P.5    Levy, P.6    Ferec, C.7
  • 81
    • 0027366552 scopus 로고
    • Inherited primary peripheral neuropathies: Molecular genetics and clinical implications of CMT1A and HNPP
    • DOI 10.1001/jama.270.19.2326
    • Lupski, J.R., Chance, P.F., Garcia, C.A. (1993) Inherited primary peripheral neuropathies. Molecular genetics and clinical implications of CMT1A and HNPP. JAMA 270, 2326-30. (Pubitemid 23335324)
    • (1993) Journal of the American Medical Association , vol.270 , Issue.19 , pp. 2326-2330
    • Lupski, J.R.1    Chance, P.F.2    Garcia, C.A.3
  • 82
    • 34547664096 scopus 로고    scopus 로고
    • Genomic disorder mechanisms elucidated by breakpoint analysis of 17p rearrangements
    • Lupski, J.R., Stankiewicz, P. (2005) Genomic disorder mechanisms elucidated by breakpoint analysis of 17p rearrangements. PLoS Genet 1, e49.
    • (2005) PLoS Genet , vol.1
    • Lupski, J.R.1    Stankiewicz, P.2
  • 84
    • 0026580019 scopus 로고
    • A chimaeric 11-beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension
    • Lifton, R.P., Dluhy, R.G., Powers, M., Rich, G.M., Cook, S., Ulick, S., Lalouel, J.-M. (1992) A chimaeric 11-beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension. Nature 355, 262-5.
    • (1992) Nature , vol.355 , pp. 262-5
    • Lifton, R.P.1    Dluhy, R.G.2    Powers, M.3    Rich, G.M.4    Cook, S.5    Ulick, S.6    Lalouel, J.-M.7
  • 87
    • 2342530409 scopus 로고    scopus 로고
    • Screening of the 1 Mb SOX9 5 control region by arrayCGH identifi es a large deletion in a case of campomelic dysplasia with XY sex reversal
    • Pop, R., Conz, C., Lindenberg, K.S., Blesson, S., Schmalenberger, B., Briault, S., Pfeifer, D., Scherer, G. (2004) Screening of the 1 Mb SOX9 5 control region by arrayCGH identifi es a large deletion in a case of campomelic dysplasia with XY sex reversal. J Med Genet 41, e47.
    • (2004) J Med Genet , vol.41
    • Pop, R.1    Conz, C.2    Lindenberg, K.S.3    Blesson, S.4    Schmalenberger, B.5    Briault, S.6    Pfeifer, D.7    Scherer, G.8
  • 89
    • 11144339384 scopus 로고    scopus 로고
    • Long-range control of gene expression: Emerging mechanisms and disruption in disease
    • DOI 10.1086/426833
    • Kleinjan, D.A., van Heyningen, V. (2005) Long-Range Control of Gene Expression. Emerging Mechanisms and Disruption in Disease. Am J Hum Genet 76, 8-32. (Pubitemid 40023762)
    • (2005) American Journal of Human Genetics , vol.76 , Issue.1 , pp. 8-32
    • Kleinjan, D.A.1    Van Heyningen, V.2
  • 90
    • 45249110444 scopus 로고    scopus 로고
    • A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome
    • DOI 10.1136/jmg.2007.055699
    • Klopocki, E., Ott, C. E., Benatar, N., Ullmann, R., Mundlos, S., Lehmann, L. (2008) A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome. J Med Genet 45, 370-5. (Pubitemid 351839478)
    • (2008) Journal of Medical Genetics , vol.45 , Issue.6 , pp. 370-375
    • Klopocki, E.1    Ott, C.-E.2    Benatar, N.3    Ullmann, R.4    Mundlos, S.5    Lehmann, K.6
  • 94
    • 0024761064 scopus 로고
    • The proximity of DNA sequences in interphase cell nuclei is correlated to genomic distance and permits ordering of cosmids spanning 250 kilobase pairs
    • Trask, B., Pinkel, D., Van den Engh, G.J. (1989) The proximity of DNA sequences in interphase cell nuclei is correlated to genomic distance and permits ordering of cosmids spanning 250 kilobase pairs. Genomics 5, 710-7.
    • (1989) Genomics , vol.5 , pp. 710-7
    • Trask, B.1    Pinkel, D.2    Van Den Engh, G.J.3
  • 95
    • 0026737923 scopus 로고
    • Estimating genomic distance from DNA sequence location in cell nuclei by a random walk model
    • Van den Engh, G., Van den Sachs, R., Trask, B.J. (1992) Estimating genomic distance from DNA sequence location in cell nuclei by a random walk model. Science 257, 1410-2.
    • (1992) Science , vol.257 , pp. 1410-2
    • Van Den Engh, G.1    Van Den Sachs, R.2    Trask, B.J.3
  • 96
    • 0242662461 scopus 로고    scopus 로고
    • Evolutionary Discrimination of Mammalian Conserved Non-Genic Sequences (CNGs)
    • DOI 10.1126/science.1087047
    • Dermitzakis, E.T., Reymond, A., Scamuffa, N., Ucla, C., Kirkness, E., Rossier, C., Antonarakis, S.E. (2003) Evolutionary discrimination of mammalian conserved nongenic sequences (CNGs). Science 302, 1033-5. (Pubitemid 37386193)
    • (2003) Science , vol.302 , Issue.5647 , pp. 1033-1035
    • Dermitzakis, E.T.1    Reymond, A.2    Scamuffa, N.3    Ucla, C.4    Kirkness, E.5    Rossier, C.6    Antonarakis, S.E.7
  • 97
    • 13144295005 scopus 로고    scopus 로고
    • Conserved non-genic sequences - An unexpected feature of mammalian genomes
    • DOI 10.1038/nrg1527
    • Dermitzakis, E.T., Reymond, A., Antonarakis, S.E. (2005) Conserved non-genic sequences -an unexpected feature of mammalian genomes. Nat Rev Genet 6, 151-7. (Pubitemid 40179538)
    • (2005) Nature Reviews Genetics , vol.6 , Issue.2 , pp. 151-157
    • Dermitzakis, E.T.1    Reymond, A.2    Antonarakis, S.E.3
  • 99
    • 0037372327 scopus 로고    scopus 로고
    • A significant fraction of conserved noncoding DNA in human and mouse consists of predicted matrix attachment regions
    • DOI 10.1016/S0168-9525(03)00016-7
    • Glazko, G.V., Koonin, E.V., Rogozin, I.B., Shabalina, S.A. (2003). A Significant fraction of conserved noncoding DNA in human and mouse consists of predicted matrix attachment regions. Trends Genet 19, 119-24. (Pubitemid 36279175)
    • (2003) Trends in Genetics , vol.19 , Issue.3 , pp. 119-124
    • Glazko, G.V.1    Koonin, E.V.2    Rogozin, I.B.3    Shabalina, S.A.4
  • 100
    • 0021014396 scopus 로고
    • B-Globin gene inactivation by DNA translocation in b-thalassaemia
    • Kioussis, D., Vanin, E., deLange, T., Flavell, R.A., Grosveld, F.G. (1983) b -globin gene inactivation by DNA traslocation un g -b -thalassaemia. Nature 306, 662-6. (Pubitemid 14201849)
    • (1983) Nature , vol.306 , Issue.5944 , pp. 662-666
    • Kioussis, D.1    Vanin, E.2    DeLange, T.3
  • 106
    • 52949096084 scopus 로고    scopus 로고
    • Next-generation DNA sequencing methods
    • Mardis, E.R. (2008) Next-generation DNA sequencing methods. Annu Rev Genomics Hum Genet 9, 387-402.
    • (2008) Annu Rev Genomics Hum Genet , vol.9 , pp. 387-402
    • Mardis, E.R.1
  • 115
    • 33947220222 scopus 로고    scopus 로고
    • Structural variation in the human genome
    • Lupski, J.R. (2007) Structural variation in the human genome. N Engl J Med 356, 1169-7.
    • (2007) N Engl J Med , vol.356 , pp. 1169-7
    • Lupski, J.R.1
  • 116
    • 8444223551 scopus 로고    scopus 로고
    • Origins of chromosomal rearrangement hotspots in the human genome: Evidence from the AZFa deletion hotspots
    • Hurles, M.E., Willey, D., Matthews, L., Hussain, S.S. (2004) Origins of chromosomal rearrangement hotspots in the human genome: evidence from the AZFa deletion hotspots. Genome Biol 5, R55.
    • (2004) Genome Biol , vol.5
    • Hurles, M.E.1    Willey, D.2    Matthews, L.3    Hussain, S.S.4
  • 123
    • 0142027581 scopus 로고    scopus 로고
    • Identification of Four Highly Conserved Genes between Breakpoint Hotspots BP1 and BP2 of the Prader-Willi/Angelman Syndromes Deletion Region That Have Undergone Evolutionary Transposition Mediated by Flanking Duplicons
    • DOI 10.1086/378816
    • Chai, J.H., Locke, D.P., Greally, J.M., Knoll, J.H., Ohta, T., Dunai, J., Yavor, A., Eichler, E.E. (2003) Nicholls RD Identifi cation of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by fl anking duplicons. Am J Hum Genet 73, 898-925. (Pubitemid 37271892)
    • (2003) American Journal of Human Genetics , vol.73 , Issue.4 , pp. 898-925
    • Chai, J.-H.1    Locke, D.P.2    Greally, J.M.3    Knoll, J.H.M.4    Ohta, T.5    Dunai, J.6    Yavor, A.7    Eichler, E.E.8    Nicholls, R.D.9
  • 125
    • 0344466705 scopus 로고    scopus 로고
    • Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]
    • DOI 10.1097/01.GIM.0000095625.14160.AB
    • Potocki, L., Shaw, C.J., Stankiewicz, P., Lupski, J.R. (2003) Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome (del(17) (p11.2p11.2)). Genet Med 5, 430-4. (Pubitemid 37483411)
    • (2003) Genetics in Medicine , vol.5 , Issue.6 , pp. 430-434
    • Potocki, L.1    Shaw, C.J.2    Stankiewicz, P.3    Lupski, J.R.4
  • 129
    • 0141960163 scopus 로고    scopus 로고
    • Williams-Beuren syndrome: A challenge for genotype-phenotype correlations
    • Tassabehji, M. (2003) Williams-Beuren syndrome: a challenge for genotype-phenotype correlations. Hum Mol Genet 2, R229-37. (Pubitemid 37259337)
    • (2003) Human Molecular Genetics , vol.12 , Issue.REV. ISS. 2
    • Tassabehji, M.1
  • 141
  • 154
    • 45349105098 scopus 로고    scopus 로고
    • Deletion 22q13.3 syndrome
    • Phelan, M.C. (2008) Deletion 22q13.3 syndrome. Orphanet J Rare Dis 3, 14.
    • (2008) Orphanet J Rare Dis , vol.3 , pp. 14
    • Phelan, M.C.1
  • 156
    • 34548691008 scopus 로고    scopus 로고
    • The discovery of microdeletion syndromes in the post-genomic era: Review of the methodology and characterization of a new 1q41q42 microdeletion syndrome
    • DOI 10.1097/GIM.0b013e3181484b49, PII 0012581720070900000008
    • Shaffer, L.G., Theisen, A., Bejjani, B.A., Ballif, B.C., Aylsworth, A.S., Lim, C., McDonald, M., Ellison, J.W., Kostiner, D., Saitta, S., Shaikh, T. (2007) The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome. Genet Med 9, 607-16. (Pubitemid 47415270)
    • (2007) Genetics in Medicine , vol.9 , Issue.9 , pp. 607-616
    • Shaffer, L.G.1    Theisen, A.2    Bejjani, B.A.3    Ballif, B.C.4    Aylsworth, A.S.5    Lim, C.6    McDonald, M.7    Ellison, J.W.8    Kostiner, D.9    Saitta, S.10    Shaikh, T.11
  • 163
    • 0033127026 scopus 로고    scopus 로고
    • A Microdeletion within DAX-1 in X-Linked Adrenal Hypoplasia Congenita and Hypogonadotrophic Hypogonadism
    • Wang, J., Killinger, D. W., Hegele, R. A. (1999) A microdeletion within DAX-1 in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism. J Invest Med 47, 232-5. (Pubitemid 129576368)
    • (1999) Journal of Investigative Medicine , vol.47 , Issue.5 , pp. 232-235
    • Wang, J.1    Killinger, D.W.2    Hegele, R.A.3
  • 168
    • 2642566992 scopus 로고    scopus 로고
    • Branchio-oto-renal syndrome: The mutation spectrum in EYA1 and its phenotypic consequences
    • DOI 10.1002/humu.20048
    • Chang, E.H., Menezes, M., Meyer, N.C., Cucci, R.A., Vervoort, V.S., Schwartz, C.E., Smith, R.J. (2004) Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences. Hum Mutat 23, 582-9. (Pubitemid 38720610)
    • (2004) Human Mutation , vol.23 , Issue.6 , pp. 582-589
    • Chang, E.H.1    Menezes, M.2    Meyer, N.C.3    Cucci, R.A.4    Vervoort, V.S.5    Schwartz, C.E.6    Smith, R.J.H.7
  • 171
    • 0022479573 scopus 로고
    • Characterization of the supernumerary chromosome in cat eye syndrome
    • McDermid, H.E., Duncan, A.M.V., Brasch, K.R., Holden, J.J.A., Magenis, E., Sheehy, R., Burn, J., Kardon, N., Noel, B., Schinzel, A., Teshima, I., White, B.N. (1986) Characterization of the supernumerary chromosome in cat eye syndrome. Science 232, 646-8. (Pubitemid 16061976)
    • (1986) Science , vol.232 , Issue.4750 , pp. 646-648
    • McDermid, H.E.1    Duncan, A.M.V.2    Brasch, K.R.3
  • 182
    • 0025812172 scopus 로고
    • GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families
    • Vortkamp, A., Gessler, M., Grzeschik, K.-H. (1991) GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families. Nature 352, 539-40. (Pubitemid 21912379)
    • (1991) Nature , vol.352 , Issue.6335 , pp. 539-540
    • Vortkamp, A.1    Gessler, M.2    Grzeschik, K.-H.3
  • 186
    • 0022589841 scopus 로고
    • X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome
    • Ballabio, A., Parenti, G., Tippett, P., Mondello, C., Di Maio, S., Tenore, A., Andria,G. (1986) X-linked ichthyosis, due to steroid sulphatase defi ciency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome. Hum Genet 72, 237-40. (Pubitemid 16128859)
    • (1986) Human Genetics , vol.72 , Issue.3 , pp. 237-240
    • Ballabio, A.1    Parenti, G.2    Tippett, P.3
  • 191
    • 0032498306 scopus 로고    scopus 로고
    • Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein
    • DOI 10.1016/S0092-8674(00)80899-5
    • Gleeson, J.G., Allen, K.M., Fox, J.W., Lamperti, E.D., Berkovic, S., Scheffer, I., Cooper, E.C., Dobyns, W.B., Minnerath, S.R., Ross, M.E., Walsh, C.A. (1998) Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. Cell 92, 63-72. (Pubitemid 28053298)
    • (1998) Cell , vol.92 , Issue.1 , pp. 63-72
    • Gleeson, J.G.1    Allen, K.M.2    Fox, J.W.3    Lamperti, E.D.4    Berkovic, S.5    Scheffer, I.6    Cooper, E.C.7    Dobyns, W.B.8    Minnerath, S.R.9    Ross, M.E.10    Walsh, C.A.11
  • 192
    • 0033066987 scopus 로고    scopus 로고
    • XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28
    • DOI 10.1002/(SICI)1096-8628(19990730)85:3<243::AID-AJMG11>3.0.CO;2- E
    • Lubs, H., Abidi, F., Bier, J. A. B., Abuelo, D., Ouzts, L., Voeller, K., Fennell, E., Stevenson, R. E., Schwartz, C. E., Arena, F. (1999) XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28. Am J Med Genet 85, 243-8. (Pubitemid 29288317)
    • (1999) American Journal of Medical Genetics , vol.85 , Issue.3 , pp. 243-248
    • Lubs, H.1    Abidi, F.2    Bier, J.-A.B.3    Abuelo, D.4    Ouzts, L.5    Voeller, K.6    Fennell, E.7    Stevenson, R.E.8    Schwartz, C.E.9    Arena, F.10
  • 193
    • 0023807094 scopus 로고
    • Microdeletion syndromes, balanced translocations, and gene mapping
    • Schinzel, A. (1988) Microdeletion syndromes, balanced translocations, and gene mapping. J Med Genet 25, 454-62.
    • (1988) J Med Genet , vol.25 , pp. 454-62
    • Schinzel, A.1
  • 195
    • 0031800728 scopus 로고    scopus 로고
    • Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome
    • DOI 10.1038/ng0598-47
    • Dreyer, S. D., Zhou, G., Baldini, A., Winterpacht, A., Zabel, B., Cole, W., Johnson, R. L., Lee, B. (1998) Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. Nat Genet 19, 47-50. (Pubitemid 28242021)
    • (1998) Nature Genetics , vol.19 , Issue.1 , pp. 47-50
    • Dreyer, S.D.1    Zhou, G.2    Baldini, A.3    Winterpacht, A.4    Zabel, B.5    Cole, W.6    Johnson, R.L.7    Lee, B.8
  • 198
    • 33847715562 scopus 로고    scopus 로고
    • MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: Twenty-nine novel mutations identifi ed
    • Ferrentino, R., Bassi, M.T., Chitayat, D., Tabolacci, E., Meroni, G. (2007) MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: twenty-nine novel mutations identifi ed. Hum Mutat 28, 206-7.
    • (2007) Hum Mutat , vol.28 , pp. 206-7
    • Ferrentino, R.1    Bassi, M.T.2    Chitayat, D.3    Tabolacci, E.4    Meroni, G.5
  • 199
    • 0030039992 scopus 로고    scopus 로고
    • Relative frequency of mutations causing ornithine transcarbamylase deficiency in 78 families
    • DOI 10.1007/BF02185751
    • Tuchman, M., Plante, R.J., Garcia-Perez, M.A., Rubio, V. (1996) Relative frequency of mutations causing ornithine transcarbamylase defi ciency in 78 families. Hum Genet 97, 274-6. (Pubitemid 26057019)
    • (1996) Human Genetics , vol.97 , Issue.3 , pp. 274-276
    • Tuchman, M.1    Plante, R.J.2    Garcia-Perez, M.A.3    Rubio, V.4
  • 200
    • 0026087355 scopus 로고
    • Tetrasomy 12p (Pallister-Killian syndrome)
    • Schinzel, A. (1991) Tetrasomy 12p (Pallister-Killian syndrome). J Med Genet 28, 122-5. (Pubitemid 21901916)
    • (1991) Journal of Medical Genetics , vol.28 , Issue.2 , pp. 122-125
    • Schinzel, A.1
  • 202
    • 15444363703 scopus 로고    scopus 로고
    • PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2
    • DOI 10.1007/s10048-004-0207-y
    • Inoue K. (2005) PLP1 -related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Neurogenetics 6, 1-16. (Pubitemid 40394825)
    • (2005) Neurogenetics , vol.6 , Issue.1 , pp. 1-16
    • Inoue, K.1
  • 204
    • 0029878404 scopus 로고    scopus 로고
    • Interstitial deletion of 11(p11.2p12): A newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses ( EXT2 )
    • Potocki, L., Shaffer, L. G. (1996) Interstitial deletion of 11(p11.2p12): a newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses ( EXT2 ). Am J Med Genet 62, 319-25.
    • (1996) Am J Med Genet , vol.62 , pp. 319-25
    • Potocki, L.1    Shaffer, L.G.2
  • 205
    • 0024382804 scopus 로고
    • Preferential germline mutation of the paternal allele in retinoblastoma
    • DOI 10.1038/340312a0
    • Zhu, X., Dunn, J. M., Phillips, R. A., Goddard, A. D., Paton, K. E., Becker, A., Gallie, B. L. (1989) Preferential germline mutation of the paternal allele in retinoblastoma. Nature 340, 312-3. (Pubitemid 19189692)
    • (1989) Nature , vol.340 , Issue.6231 , pp. 312-313
    • Zhu, X.1    Dunn, J.M.2    Phillips, R.A.3    Goddard, A.D.4    Paton, K.E.5    Becker, A.6    Gallie, B.L.7
  • 211
    • 0031963876 scopus 로고    scopus 로고
    • Mutations in the SALL1 putative transcription factor gene cause Townes- Brocks syndrome
    • DOI 10.1038/ng0198-81
    • Kohlhase, J., Wischermann, A., Reichenbach, H., Froster, U., Engel, W. (1998) Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. Nat Genet 18, 81-3. (Pubitemid 28027886)
    • (1998) Nature Genetics , vol.18 , Issue.1 , pp. 81-83
    • Kohlhase, J.1    Wischermann, A.2    Reichenbach, H.3    Froster, U.4    Engel, W.5
  • 213
    • 0030696314 scopus 로고    scopus 로고
    • Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis
    • DOI 10.1093/hmg/6.12.2155
    • Jones, A. C., Daniells, C. E., Snell, R.G., Tachataki, M., Idziaszczyk, S.A., Krawczak, M., Sampson, J.R., Cheadle, J.P. (1997) Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis. Hum Molec Genet 6, 2155-61. (Pubitemid 27477959)
    • (1997) Human Molecular Genetics , vol.6 , Issue.12 , pp. 2155-2161
    • Jones, A.C.1    Daniells, C.E.2    Snell, R.G.3    Tachataki, M.4    Idziaszczyk, S.A.5    Krawczak, M.6    Sampson, J.R.7    Cheadle, J.P.8
  • 214
    • 33751350666 scopus 로고    scopus 로고
    • Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28Mb deletion encompassing the TBX3 gene
    • DOI 10.1038/sj.ejhg.5201696, PII 5201696
    • Klopocki, E., Neumann, L. M., Tonnies, H., Ropers, H.-H., Mundlos, S., Ullmann, R. (2006) Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene. Eur J Hum Genet 14, 1274-9. (Pubitemid 44804034)
    • (2006) European Journal of Human Genetics , vol.14 , Issue.12 , pp. 1274-1279
    • Klopocki, E.1    Neumann, L.M.2    Tonnies, H.3    Ropers, H.-H.4    Mundlos, S.5    Ullmann, R.6
  • 218
    • 0034331249 scopus 로고    scopus 로고
    • Correlation of mutations of the SH2D1A gene and epstein-barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease
    • Sumegi, J., Huang, D., Lanyi, A., Davis, J.D., Seemayer, T.A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H., Purtilo, D.T., Gross, T.G. (2000) Correlation of mutations of the SH2D1A gene and epstein-barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease. Blood 96, 3118-25.
    • (2000) Blood , vol.96 , pp. 3118-25
    • Sumegi, J.1    Huang, D.2    Lanyi, A.3    Davis, J.D.4    Seemayer, T.A.5    Maeda, A.6    Klein, G.7    Seri, M.8    Wakiguchi, H.9    Purtilo, D.T.10    Gross, T.G.11
  • 219
    • 16644384244 scopus 로고    scopus 로고
    • IL1RAPL1 is associated with mental retardation in patients with complex glycerol kinase defi ciency who have deletions extending telomeric of DAX1
    • Zhang, Y.H., Huang, B.L., Niakan, K.K., McCabe, L.L., McCabe, E.R., Dipple, K.M. (2004) IL1RAPL1 is associated with mental retardation in patients with complex glycerol kinase defi ciency who have deletions extending telomeric of DAX1. Hum Mutat 24, 273.
    • (2004) Hum Mutat , vol.24 , pp. 273
    • Zhang, Y.H.1    Huang, B.L.2    Niakan, K.K.3    McCabe, L.L.4    McCabe, E.R.5    Dipple, K.M.6
  • 222
    • 80755187820 scopus 로고    scopus 로고
    • Human copy number variation and complex genetic disease
    • Girirajan, S., Campbell, C.D., Eichler, E. E. (2011) Human copy number variation and complex genetic disease. Annu Rev Genet 45, 203-26.
    • (2011) Annu Rev Genet , vol.45 , pp. 203-26
    • Girirajan, S.1    Campbell, C.D.2    Eichler, E.E.3


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