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Volumn 112, Issue 1 SUPPL. 1, 1999, Pages

Molecular testing for inherited diseases

Author keywords

[No Author keywords available]

Indexed keywords

BETA 2 MICROGLOBULIN; DNA; HLA ANTIGEN; TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 0033493421     PISSN: 00029173     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (12)

References (121)
  • 1
    • 0020319318 scopus 로고
    • A sensitive new prenatal test for sickle-cell anemia
    • Chang JC, Kan YW. A sensitive new prenatal test for sickle-cell anemia. N Engl J Med. 1982;307:30-32.
    • (1982) N Engl J Med , vol.307 , pp. 30-32
    • Chang, J.C.1    Kan, Y.W.2
  • 2
    • 0019952648 scopus 로고
    • Improved detection of the sickle mutation by DNA analysis
    • Orkin SH, Little PF, Kazazian HH, et al. Improved detection of the sickle mutation by DNA analysis. N Engl J Med. 1982;307:32-36.
    • (1982) N Engl J Med , vol.307 , pp. 32-36
    • Orkin, S.H.1    Little, P.F.2    Kazazian, H.H.3
  • 4
    • 20644463092 scopus 로고    scopus 로고
    • Internet databases for clinical geneticists: An overview
    • van Steensel MAM, Winter RM. Internet databases for clinical geneticists: an overview. Clin Genet. 1998;54:33-40.
    • (1998) Clin Genet , vol.54 , pp. 33-40
    • Van Steensel, M.A.M.1    Winter, R.M.2
  • 5
    • 0032561249 scopus 로고    scopus 로고
    • New goals for the US Human Genome Project: 1998-2003
    • Collins FS, Patrinos A, Jordan E, et al. New goals for the US Human Genome Project: 1998-2003. Science. 1998;282:682-689.
    • (1998) Science , vol.282 , pp. 682-689
    • Collins, F.S.1    Patrinos, A.2    Jordan, E.3
  • 7
    • 0017381277 scopus 로고
    • Fragile sites on human chromosomes: Demonstration of their dependence on the type of tissue culture medium
    • Sutherland GR. Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium. Science. 1977;197:265-267.
    • (1977) Science , vol.197 , pp. 265-267
    • Sutherland, G.R.1
  • 8
    • 0025905795 scopus 로고
    • Identification of a gene (FMR-1) containing a CGG repeat coincident with breakpoint cluster region exhibiting length variation in fragile X syndrome
    • Verkerk AJMH, Pieretti M, Sutcliffe JS, et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell. 1991;65:905-914.
    • (1991) Cell , vol.65 , pp. 905-914
    • Verkerk, A.J.M.H.1    Pieretti, M.2    Sutcliffe, J.S.3
  • 9
    • 0029816723 scopus 로고    scopus 로고
    • The fragile X mental retardation protein is a ribonucleoprotein containing both nuclear localization and nuclear export signals
    • Eberhart DE, Malter HE, Feng Y, et al. The fragile X mental retardation protein is a ribonucleoprotein containing both nuclear localization and nuclear export signals. Hum Mol Genet. 1996;5:1083-1091.
    • (1996) Hum Mol Genet , vol.5 , pp. 1083-1091
    • Eberhart, D.E.1    Malter, H.E.2    Feng, Y.3
  • 10
    • 0026339303 scopus 로고
    • Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
    • Oberle I, Rousseau F, Heitz D, et al. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science. 1991;252:1097-1102.
    • (1991) Science , vol.252 , pp. 1097-1102
    • Oberle, I.1    Rousseau, F.2    Heitz, D.3
  • 11
    • 0025952727 scopus 로고
    • Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation
    • Rousseau F, Heitz D, Biancalana V, et al. Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. N Engl J Med. 1991;325:1673-1681.
    • (1991) N Engl J Med , vol.325 , pp. 1673-1681
    • Rousseau, F.1    Heitz, D.2    Biancalana, V.3
  • 12
    • 0025833298 scopus 로고
    • Absence of expression of the FMR-1 gene in fragile X syndrome
    • Pieretti M, Zhang F, Fu YH, et al. Absence of expression of the FMR-1 gene in fragile X syndrome. Cell. 1991;66:817-822.
    • (1991) Cell , vol.66 , pp. 817-822
    • Pieretti, M.1    Zhang, F.2    Fu, Y.H.3
  • 13
    • 0026922707 scopus 로고
    • DNA methylation represses FMR-1 transcription in fragile X syndrome
    • Sutcliffe JS, Nelson DL, Zhang F, et al. DNA methylation represses FMR-1 transcription in fragile X syndrome. Hum Mol Genet. 1992;1:397-400.
    • (1992) Hum Mol Genet , vol.1 , pp. 397-400
    • Sutcliffe, J.S.1    Nelson, D.L.2    Zhang, F.3
  • 14
    • 0021150428 scopus 로고
    • The marker (X) chromosome: A cytogenetic and genetic analysis
    • Sherman SL, Morton NE, Jacobs PA, et al. The marker (X) chromosome: a cytogenetic and genetic analysis. Ann Hum Genet. 1984;48:21-37.
    • (1984) Ann Hum Genet , vol.48 , pp. 21-37
    • Sherman, S.L.1    Morton, N.E.2    Jacobs, P.A.3
  • 15
    • 0026345716 scopus 로고
    • Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
    • Fu YH, Kuhl DPA, Pizzuti A, et al. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell. 1991;67:1047-1058.
    • (1991) Cell , vol.67 , pp. 1047-1058
    • Fu, Y.H.1    Kuhl, D.P.A.2    Pizzuti, A.3
  • 16
    • 0026462708 scopus 로고
    • Inheritance of the fragile X syndrome: Size of the fragile X premutation is a major determinant of the transition to full mutation
    • Heitz D, Devys D, Imbert G, et al. Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation. J Med Genet. 1992;29:794-801.
    • (1992) J Med Genet , vol.29 , pp. 794-801
    • Heitz, D.1    Devys, D.2    Imbert, G.3
  • 17
    • 0028168645 scopus 로고
    • Length of uninterrupted CGG repeats determines instability in the FMR1 gene
    • Eichler EE, Holden JJA, Popovich BW, et al. Length of uninterrupted CGG repeats determines instability in the FMR1 gene. Nat Genet. 1994;8:88-94.
    • (1994) Nat Genet , vol.8 , pp. 88-94
    • Eichler, E.E.1    Holden, J.J.A.2    Popovich, B.W.3
  • 18
    • 0030795653 scopus 로고    scopus 로고
    • The effect of FMR1 CGG repeat in interruption on mutation frequency as measured by sperm typing
    • Kunst CB, Leeflang EP, Iber JC, et al. The effect of FMR1 CGG repeat in interruption on mutation frequency as measured by sperm typing. J. Med Genet. 1997;34:627-631.
    • (1997) J. Med Genet , vol.34 , pp. 627-631
    • Kunst, C.B.1    Leeflang, E.P.2    Iber, J.C.3
  • 19
    • 0028242797 scopus 로고
    • Simple repeat DNA is not replicated simply
    • Richards RI, Sutherland GR. Simple repeat DNA is not replicated simply. Nat Genet. 1994;6:114-116.
    • (1994) Nat Genet , vol.6 , pp. 114-116
    • Richards, R.I.1    Sutherland, G.R.2
  • 20
    • 1842367311 scopus 로고    scopus 로고
    • Expand long PCR for fragile X mutation detection
    • Hecimovic S, Barisic I, Muller A, et al. Expand long PCR for fragile X mutation detection. Clil Genet. 1997;52:147-154.
    • (1997) Clil Genet , vol.52 , pp. 147-154
    • Hecimovic, S.1    Barisic, I.2    Muller, A.3
  • 21
    • 0030732314 scopus 로고    scopus 로고
    • Fragile X syndrome and deletions in FMR1: New case and review of the literature
    • Hammond LS, Macias MM, Tarleton JC, et al. Fragile X syndrome and deletions in FMR1: new case and review of the literature. Am J Med Genet. 1997;72:430-434.
    • (1997) Am J Med Genet , vol.72 , pp. 430-434
    • Hammond, L.S.1    Macias, M.M.2    Tarleton, J.C.3
  • 22
    • 0027480960 scopus 로고
    • A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
    • Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell. 1993;72:971-983.
    • (1993) Cell , vol.72 , pp. 971-983
  • 23
    • 0345384439 scopus 로고    scopus 로고
    • The fatal attraction of polyglutamine-containing proteins
    • Hackam AS, Wellington CL, Hayden MR. The fatal attraction of polyglutamine-containing proteins. Clin Genet. 1998;54:23-32.
    • (1998) Clin Genet , vol.54 , pp. 23-32
    • Hackam, A.S.1    Wellington, C.L.2    Hayden, M.R.3
  • 24
    • 0029055717 scopus 로고
    • Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes
    • Nasir J, Floresco SB, O'Kusky JR, et al. Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes. Cell. 1995;81:811-823.
    • (1995) Cell , vol.81 , pp. 811-823
    • Nasir, J.1    Floresco, S.B.2    O'Kusky, J.R.3
  • 25
    • 0029082383 scopus 로고
    • Inactivation of the mouse Huntington's disease gene homolog Hdh
    • Duyao MP, Auetbach AB, Ryan A, et al. Inactivation of the mouse Huntington's disease gene homolog Hdh. Science. 1995;269:407-410.
    • (1995) Science , vol.269 , pp. 407-410
    • Duyao, M.P.1    Auetbach, A.B.2    Ryan, A.3
  • 26
    • 0029997090 scopus 로고    scopus 로고
    • Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats
    • Rubinsztein DC, Leggo J, Coles R, et al. Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats. Am J Hum Genet. 1996;59:16-22.
    • (1996) Am J Hum Genet , vol.59 , pp. 16-22
    • Rubinsztein, D.C.1    Leggo, J.2    Coles, R.3
  • 27
    • 0029075558 scopus 로고    scopus 로고
    • Sex-dependent mechanisms for contractions of the CAG repeat on affected Huntington disease chromosomes
    • Kremer B, Almquist E, Theilmann J, et al. Sex-dependent mechanisms for contractions of the CAG repeat on affected Huntington disease chromosomes. Am J Hum Genet. 1996;57:343-350.
    • (1996) Am J Hum Genet , vol.57 , pp. 343-350
    • Kremer, B.1    Almquist, E.2    Theilmann, J.3
  • 28
    • 0028470671 scopus 로고
    • International Huntington Association and the World Federation of Neurology Research Group on Huntington's Chorea: Guidelines for the molecular genetics predictive test in Huntington's disease
    • International Huntington Association and the World Federation of Neurology Research Group on Huntington's Chorea: Guidelines for the molecular genetics predictive test in Huntington's disease. J Med Genet. 1994;31:555-559.
    • (1994) J Med Genet , vol.31 , pp. 555-559
  • 29
    • 0027164698 scopus 로고
    • Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
    • Orr HT, Chung MY, Banfi S, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet. 1993;4:221-226.
    • (1993) Nat Genet , vol.4 , pp. 221-226
    • Orr, H.T.1    Chung, M.Y.2    Banfi, S.3
  • 30
    • 0028143527 scopus 로고
    • CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
    • Kawaguchi Y, Okamoto T, Taniwaki M, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet. 1994;8:221-227.
    • (1994) Nat Genet , vol.8 , pp. 221-227
    • Kawaguchi, Y.1    Okamoto, T.2    Taniwaki, M.3
  • 31
    • 0031012399 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel
    • Zhuchenko O, Bailey J, Bonnen P, et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel. Nat Genet. 1997;15:62-69.
    • (1997) Nat Genet , vol.15 , pp. 62-69
    • Zhuchenko, O.1    Bailey, J.2    Bonnen, P.3
  • 32
    • 0030294345 scopus 로고    scopus 로고
    • Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
    • Imbert G, Saudou F, Yvert G, et al. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet. 1996;14:285-291.
    • (1996) Nat Genet , vol.14 , pp. 285-291
    • Imbert, G.1    Saudou, F.2    Yvert, G.3
  • 33
    • 16944364511 scopus 로고    scopus 로고
    • Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
    • David G, Abbas N, Stevanin G, et al. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet. 1997;17:65-70.
    • (1997) Nat Genet , vol.17 , pp. 65-70
    • David, G.1    Abbas, N.2    Stevanin, G.3
  • 34
    • 0031291722 scopus 로고    scopus 로고
    • Estimate contribution of known ataxia genes in ataxia patients undergoing DNA testing
    • Gunaratne PH, Richards CS. Estimate contribution of known ataxia genes in ataxia patients undergoing DNA testing. Genet Testing. 1997/98;1:275-278.
    • (1997) Genet Testing , vol.1 , pp. 275-278
    • Gunaratne, P.H.1    Richards, C.S.2
  • 35
    • 0024453308 scopus 로고
    • Identification of the cystic fibrosis gene: Chromosome walking and jumping
    • Rommens JM, Iannuzzi MC, Kerem BS, et al. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science. 1989;245:1059-1065.
    • (1989) Science , vol.245 , pp. 1059-1065
    • Rommens, J.M.1    Iannuzzi, M.C.2    Kerem, B.S.3
  • 36
    • 0024424270 scopus 로고
    • Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA
    • Riordan JR, Rommens JM, Kerem BS, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science. 1989;245:1066-1073.
    • (1989) Science , vol.245 , pp. 1066-1073
    • Riordan, J.R.1    Rommens, J.M.2    Kerem, B.S.3
  • 37
    • 0024423668 scopus 로고
    • Identification of the cystic fibrosis gene: Genetic analysis
    • Kerem BS, Rommens JM, Buchanan JA, et al. Identification of the cystic fibrosis gene: genetic analysis. Science. 1989;245:1073-1080.
    • (1989) Science , vol.245 , pp. 1073-1080
    • Kerem, B.S.1    Rommens, J.M.2    Buchanan, J.A.3
  • 38
    • 0026532895 scopus 로고
    • Purification and functional reconstitution of the cystic fibrosis transmembrane conductance regulator (CFTR)
    • Bear CE, Li C, Kartner N, et al. Purification and functional reconstitution of the cystic fibrosis transmembrane conductance regulator (CFTR). Cell. 1992;68:809-818.
    • (1992) Cell , vol.68 , pp. 809-818
    • Bear, C.E.1    Li, C.2    Kartner, N.3
  • 39
    • 0025931429 scopus 로고
    • Nucleoside triphosphates are required to open the CFTR chloride channel
    • Anderson MP, Berger HA, Rich DP, et al. Nucleoside triphosphates are required to open the CFTR chloride channel. Cell. 1991;67:775-784.
    • (1991) Cell , vol.67 , pp. 775-784
    • Anderson, M.P.1    Berger, H.A.2    Rich, D.P.3
  • 40
    • 0026649122 scopus 로고
    • An animal model for cystic fibrosis made by gene targeting
    • Snouwaert JN, Brigman KK, Latour AM, et al. An animal model for cystic fibrosis made by gene targeting. Science. 1992;257:1083-1088.
    • (1992) Science , vol.257 , pp. 1083-1088
    • Snouwaert, J.N.1    Brigman, K.K.2    Latour, A.M.3
  • 41
    • 0027172739 scopus 로고
    • Production of a severe cystic fibrosis mutation in mice by gene targeting
    • Ratcliff R, Evans MJ, Cuthbert AW, et al. Production of a severe cystic fibrosis mutation in mice by gene targeting. Nat Genet. 1992;4:35-41.
    • (1992) Nat Genet , vol.4 , pp. 35-41
    • Ratcliff, R.1    Evans, M.J.2    Cuthbert, A.W.3
  • 42
    • 0026640380 scopus 로고
    • Defective epithelial chloride transport in a gene-targeted mouse model of cystic fibrosis
    • Clarke LL, Grubb BR, Gabriel SE. et al. Defective epithelial chloride transport in a gene-targeted mouse model of cystic fibrosis. Science. 1992;257:1125-1128.
    • (1992) Science , vol.257 , pp. 1125-1128
    • Clarke, L.L.1    Grubb, B.R.2    Gabriel, S.E.3
  • 43
    • 0025241696 scopus 로고
    • The relationship between genotype and phenotype in cystic fibrosis: Analysis of the most common mutation (DF508)
    • Kerem E, Corey M, Kerem BS, et al. The relationship between genotype and phenotype in cystic fibrosis: analysis of the most common mutation (DF508). N Engl J Med. 1990;323:1517-1522.
    • (1990) N Engl J Med , vol.323 , pp. 1517-1522
    • Kerem, E.1    Corey, M.2    Kerem, B.S.3
  • 44
    • 13344282728 scopus 로고    scopus 로고
    • Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor
    • Rozmahel R, Wilschanski M, Matin A, et al. Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor. Nat Genet. 1996;12:280-287.
    • (1996) Nat Genet , vol.12 , pp. 280-287
    • Rozmahel, R.1    Wilschanski, M.2    Matin, A.3
  • 45
    • 0007048621 scopus 로고    scopus 로고
    • Toronto, Ont, Canada: The Hospital for Sick Children Web site. Accessed December
    • Tsui LC. Cystic fibrosis mutation data base. Toronto, Ont, Canada: The Hospital for Sick Children Web site. Available at: www.genet.sickkids.on.ca. Accessed December1998.
    • (1998) Cystic Fibrosis Mutation Data Base
    • Tsui, L.C.1
  • 46
    • 0028033069 scopus 로고
    • Population variation of common cystic fibrosis mutations
    • The Cystic Fibrosis Genetic Analysis Consortium. Population variation of common cystic fibrosis mutations. Hum Mutat. 1994;4:167-177.
    • (1994) Hum Mutat , vol.4 , pp. 167-177
  • 47
    • 0016020543 scopus 로고
    • Cystic fibrosis in blacks in Washington DC
    • Kulczycki LL, Schauf V. Cystic fibrosis in blacks in Washington DC. Am J Dis Child. 1974;127:64-67.
    • (1974) Am J Dis Child , vol.127 , pp. 64-67
    • Kulczycki, L.L.1    Schauf, V.2
  • 48
    • 0028175683 scopus 로고
    • Genetic analysis of Hispanic individuals with cystic fibrosis
    • Grebe TA, Seltzer WK, DeMarchi J, et al. Genetic analysis of Hispanic individuals with cystic fibrosis. Am J Hum Genet. 1994;54:443-446.
    • (1994) Am J Hum Genet , vol.54 , pp. 443-446
    • Grebe, T.A.1    Seltzer, W.K.2    DeMarchi, J.3
  • 49
    • 0026699908 scopus 로고
    • Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population
    • Abeliovich D, Lavon IP, Lerer I, et al. Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population. Am J Hum Genet. 1992;51:951-956.
    • (1992) Am J Hum Genet , vol.51 , pp. 951-956
    • Abeliovich, D.1    Lavon, I.P.2    Lerer, I.3
  • 50
    • 16944366526 scopus 로고    scopus 로고
    • Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%
    • Macek M, Mackova A, Hamosh A, et al. Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%. Am J Hum Genet. 1997;60:1122-1127.
    • (1997) Am J Hum Genet , vol.60 , pp. 1122-1127
    • Macek, M.1    Mackova, A.2    Hamosh, A.3
  • 51
    • 0026503640 scopus 로고
    • Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patient in Israel, with presentation of severe disease
    • Shoshani T, Augarten A, Gazit E, et al. Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patient in Israel, with presentation of severe disease. Am J Hum Genet. 1992;50:222-228.
    • (1992) Am J Hum Genet , vol.50 , pp. 222-228
    • Shoshani, T.1    Augarten, A.2    Gazit, E.3
  • 52
    • 0031057682 scopus 로고    scopus 로고
    • High throughput parallel analysis of hundreds of patient samples for more than 100 mutations in multiple disease genes
    • Shuber AP, Michalowsky LA, Nass GS, et al. High throughput parallel analysis of hundreds of patient samples for more than 100 mutations in multiple disease genes. Hum Molec Genet. 1997;6:337-347.
    • (1997) Hum Molec Genet , vol.6 , pp. 337-347
    • Shuber, A.P.1    Michalowsky, L.A.2    Nass, G.S.3
  • 53
    • 0031949094 scopus 로고    scopus 로고
    • Buccal cell DNA mutation analysis for diagnosis of cystic fibrosis in newborns and infants inaccessible to sweat chloride measurement
    • Parad RB. Buccal cell DNA mutation analysis for diagnosis of cystic fibrosis in newborns and infants inaccessible to sweat chloride measurement. Pediatrics. 1998;101:851-855.
    • (1998) Pediatrics , vol.101 , pp. 851-855
    • Parad, R.B.1
  • 54
    • 0027526217 scopus 로고
    • Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs
    • Richards B, Skoletsky J, Shuber AP, et al. Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs. Hum Molec Genet. 1993;2:159-163.
    • (1993) Hum Molec Genet , vol.2 , pp. 159-163
    • Richards, B.1    Skoletsky, J.2    Shuber, A.P.3
  • 55
    • 0031944810 scopus 로고    scopus 로고
    • Gene therapy for cystic fibrosis: Which postman, which box?
    • Middleton PG, Alton EWFW. Gene therapy for cystic fibrosis: which postman, which box? Thorax. 1998;53:197-199.
    • (1998) Thorax , vol.53 , pp. 197-199
    • Middleton, P.G.1    Alton, E.W.F.W.2
  • 56
    • 0025138268 scopus 로고
    • The American Society of Human Genetics statement on cystic fibrosis screening
    • Caskey CT, Kaback MM, Beaudet AL. The American Society of Human Genetics statement on cystic fibrosis screening. Am J Hum Genet. 1990;46:398.
    • (1990) Am J Hum Genet , vol.46 , pp. 398
    • Caskey, C.T.1    Kaback, M.M.2    Beaudet, A.L.3
  • 57
    • 0025340369 scopus 로고
    • The cystic fibrosis gene: Medical and social implications for heterozygote detection
    • Wilfond BS, Fost N. The cystic fibrosis gene: medical and social implications for heterozygote detection. JAMA. 1990;263:2777-2784.
    • (1990) JAMA , vol.263 , pp. 2777-2784
    • Wilfond, B.S.1    Fost, N.2
  • 58
    • 0026541535 scopus 로고
    • General population screening for cystic fibrosis is premature
    • Beisecker L, Bowles-Beisecker B, Collins F, et al. General population screening for cystic fibrosis is premature. Am J Hum Genet. 1992;50:438-439.
    • (1992) Am J Hum Genet , vol.50 , pp. 438-439
    • Beisecker, L.1    Bowles-Beisecker, B.2    Collins, F.3
  • 59
    • 0030051640 scopus 로고    scopus 로고
    • Lack of interest by nonpregnant couples found in population-based cytstic fibrosis carrier screening
    • Clayton EW, Hannig VL, Pfotenhauer JP, et al. Lack of interest by nonpregnant couples found in population-based cytstic fibrosis carrier screening. Am J Hum Genet. 1996;58:617-627.
    • (1996) Am J Hum Genet , vol.58 , pp. 617-627
    • Clayton, E.W.1    Hannig, V.L.2    Pfotenhauer, J.P.3
  • 60
    • 0029943005 scopus 로고    scopus 로고
    • Cystic fibrosis carrier population screening in the primary care setting
    • Loader S, Caldwell O, Kozyra A, et al. Cystic fibrosis carrier population screening in the primary care setting. Am J Hum Genet. 1996;59:234-247.
    • (1996) Am J Hum Genet , vol.59 , pp. 234-247
    • Loader, S.1    Caldwell, O.2    Kozyra, A.3
  • 61
    • 19144366332 scopus 로고    scopus 로고
    • Cystic fibrosis heterozygote screening in 5,161 pregnant women
    • Witt DR, Schaefer C, Hallam P, et al. Cystic fibrosis heterozygote screening in 5,161 pregnant women. Am J Hum Genet. 1996;58:823-835.
    • (1996) Am J Hum Genet , vol.58 , pp. 823-835
    • Witt, D.R.1    Schaefer, C.2    Hallam, P.3
  • 62
    • 20644434260 scopus 로고    scopus 로고
    • NIH Consensus Statement [pamphlet]
    • NIH Consensus Statement [pamphlet]. Genetic testing for cystic fibrosis. 1997;15(4).
    • (1997) Genetic Testing for Cystic Fibrosis , vol.15 , Issue.4
  • 63
    • 20644437214 scopus 로고    scopus 로고
    • Prenatal screening for cystic fibrosis carriers: Can we afford it?
    • Rowley PT, Loader S, Kaplan RM. Prenatal screening for cystic fibrosis carriers: Can we afford it? Am J Hum Genet. 1998;63:A13.
    • (1998) Am J Hum Genet. , vol.63
    • Rowley, P.T.1    Loader, S.2    Kaplan, R.M.3
  • 64
    • 20644453425 scopus 로고    scopus 로고
    • Cystic fibrosis and the NIH consensus statement: Are obstetrician-gynecologists ready to comply?
    • Kuller J, Baughman R, Biolsi C. Cystic fibrosis and the NIH consensus statement: Are obstetrician-gynecologists ready to comply? Am J Hum Genet. 1998;63:A202.
    • (1998) Am J Hum Genet , vol.63
    • Kuller, J.1    Baughman, R.2    Biolsi, C.3
  • 65
    • 20644465496 scopus 로고    scopus 로고
    • The impact of professional society statements on screening for cystic fibrosis (CF): A survey of Maryland obstetricians before and after the 1997 NIH Consensus Conference on CF
    • Doksum T, Bernhardt BA, Holtzman NA. The impact of professional society statements on screening for cystic fibrosis (CF): a survey of Maryland obstetricians before and after the 1997 NIH Consensus Conference on CF. Am J Hum Genet. 1998;63:A230.
    • (1998) Am J Hum Genet , vol.63
    • Doksum, T.1    Bernhardt, B.A.2    Holtzman, N.A.3
  • 67
    • 9344224529 scopus 로고    scopus 로고
    • A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
    • Feder JN, Gnirke A, Thomas W, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet. 1996;13:399-408.
    • (1996) Nat Genet , vol.13 , pp. 399-408
    • Feder, J.N.1    Gnirke, A.2    Thomas, W.3
  • 70
    • 17644434333 scopus 로고    scopus 로고
    • The hemochromatosis founder mutation in HLA-H disrupts β2-microglobulin interaction and cell surface expression
    • Feder JN, Tsuchihashi Z, Irrinki A, et al. The hemochromatosis founder mutation in HLA-H disrupts β2-microglobulin interaction and cell surface expression. J Biol Chem. 1997;272:14025-14028.
    • (1997) J Biol Chem , vol.272 , pp. 14025-14028
    • Feder, J.N.1    Tsuchihashi, Z.2    Irrinki, A.3
  • 71
    • 0032478524 scopus 로고    scopus 로고
    • Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor
    • Lebron JA, Bennett MJ, Vaughn DE, et al. Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor. Cell 1998;93:111-123.
    • (1998) Cell , vol.93 , pp. 111-123
    • Lebron, J.A.1    Bennett, M.J.2    Vaughn, D.E.3
  • 72
    • 13144282684 scopus 로고    scopus 로고
    • The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding
    • Feder JN, Penny DM, Irrinki A, et al. The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc Natl Acad Sci U S A. 1998;95:1472-1477.
    • (1998) Proc Natl Acad Sci U S A , vol.95 , pp. 1472-1477
    • Feder, J.N.1    Penny, D.M.2    Irrinki, A.3
  • 73
    • 0001376313 scopus 로고    scopus 로고
    • HFE gene knockout produces mouse model of hereditary hemochromatosis
    • Zhou XY, Tomatsu S, Fleming RE, et al. HFE gene knockout produces mouse model of hereditary hemochromatosis. Proc Natl Acad Sci USA. 1998;95:2492-2497.
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 2492-2497
    • Zhou, X.Y.1    Tomatsu, S.2    Fleming, R.E.3
  • 74
    • 0030827084 scopus 로고    scopus 로고
    • The significance of the 187G (H63D) mutation in hemochromatosis
    • Beutler E. The significance of the 187G (H63D) mutation in hemochromatosis. Am J Hum Genet. 1997;61:762-764.
    • (1997) Am J Hum Genet , vol.61 , pp. 762-764
    • Beutler, E.1
  • 75
    • 0031941121 scopus 로고    scopus 로고
    • Genotypic/phenotypic correlations in genetic hemochromatosis: Evolution of diagnostic criteria
    • Adams PC, Chakrabarti S. Genotypic/phenotypic correlations in genetic hemochromatosis: evolution of diagnostic criteria. Gastroenterology. 1998;114:319-323.
    • (1998) Gastroenterology , vol.114 , pp. 319-323
    • Adams, P.C.1    Chakrabarti, S.2
  • 76
    • 0031879555 scopus 로고    scopus 로고
    • Clinical characteristics of hereditary hemochromatosis patients who lack the C282Y mutation
    • Shaheen NJ, Bacon BR, Grimm IS. Clinical characteristics of hereditary hemochromatosis patients who lack the C282Y mutation. Hepatology. 1998;28:526-529.
    • (1998) Hepatology , vol.28 , pp. 526-529
    • Shaheen, N.J.1    Bacon, B.R.2    Grimm, I.S.3
  • 77
    • 0032496881 scopus 로고    scopus 로고
    • Hereditary hemochromatosis: Gene discovery and its implications for population-based screening
    • Burke W, Thomson E, Khoury MJ, et al. Hereditary hemochromatosis: gene discovery and its implications for population-based screening. JAMA. 1998;280:172-178.
    • (1998) JAMA , vol.280 , pp. 172-178
    • Burke, W.1    Thomson, E.2    Khoury, M.J.3
  • 78
    • 0023614271 scopus 로고
    • Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
    • Koenig M, Hoffman EP, Bertelson CJ, et al. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell. 1987;50:509-517.
    • (1987) Cell , vol.50 , pp. 509-517
    • Koenig, M.1    Hoffman, E.P.2    Bertelson, C.J.3
  • 79
    • 0023906647 scopus 로고
    • Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy
    • Hoffman EP, Fischbeck KH, Brown RH, et al. Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. N Engl J Med. 1988;318:1363-1368.
    • (1988) N Engl J Med , vol.318 , pp. 1363-1368
    • Hoffman, E.P.1    Fischbeck, K.H.2    Brown, R.H.3
  • 80
    • 0024466501 scopus 로고
    • The molecular basis for Duchenne versus Becker muscular dystrophy: Correlation of severity with type of deletion
    • Koenig M, Beggs AH, Moyer M, et al. The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet. 1989;45:498-506.
    • (1989) Am J Hum Genet , vol.45 , pp. 498-506
    • Koenig, M.1    Beggs, A.H.2    Moyer, M.3
  • 81
    • 0024245082 scopus 로고    scopus 로고
    • Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification
    • Chamberlain JS, Gibbs RA, Ranier JE, et al. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res. 1998;16:11141-11156.
    • (1998) Nucleic Acids Res , vol.16 , pp. 11141-11156
    • Chamberlain, J.S.1    Gibbs, R.A.2    Ranier, J.E.3
  • 82
    • 0025244924 scopus 로고
    • Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
    • Beggs AH, Koenig M, Boyce FM, et al. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet. 1990;86:45-48.
    • (1990) Hum Genet , vol.86 , pp. 45-48
    • Beggs, A.H.1    Koenig, M.2    Boyce, F.M.3
  • 83
    • 0027452418 scopus 로고
    • Base substitutions in the human dystrophin gene: Detection by using the single-strand conformation polymorphism (SSCP) technique
    • Tuffery S, Moine P, Demaille J, et al. Base substitutions in the human dystrophin gene: detection by using the single-strand conformation polymorphism (SSCP) technique. Hum Mutat. 1993;2:368-374.
    • (1993) Hum Mutat , vol.2 , pp. 368-374
    • Tuffery, S.1    Moine, P.2    Demaille, J.3
  • 84
    • 0030016131 scopus 로고    scopus 로고
    • Four novel dystrophin point mutations: Detection by protein truncation test and transcript and analysis in lymphocytes from Duchenne muscular dystrophy patients
    • Tuffery S, Bareil C, Demaille J, et al. Four novel dystrophin point mutations: detection by protein truncation test and transcript and analysis in lymphocytes from Duchenne muscular dystrophy patients. Eur J Hum Genet. 1996;4:143-152.
    • (1996) Eur J Hum Genet , vol.4 , pp. 143-152
    • Tuffery, S.1    Bareil, C.2    Demaille, J.3
  • 85
    • 0031955191 scopus 로고    scopus 로고
    • Dystrophin gene analysis on 130 patients with Duchenne muscular dystrophy with a special reference to muscle mRNA analysis
    • Ikezawa M, Minami N, Takahashi M, et al. Dystrophin gene analysis on 130 patients with Duchenne muscular dystrophy with a special reference to muscle mRNA analysis. Brain Dev. 1998;20:165-168.
    • (1998) Brain Dev , vol.20 , pp. 165-168
    • Ikezawa, M.1    Minami, N.2    Takahashi, M.3
  • 86
    • 0026785988 scopus 로고
    • Dystrophin at the plasma membrane from human muscle fibers shows a costameric localization
    • Minetti C, Beltrame F, Marcenaro G, et al. Dystrophin at the plasma membrane from human muscle fibers shows a costameric localization. Neuromusc Disord. 1992;2:99-109.
    • (1992) Neuromusc Disord , vol.2 , pp. 99-109
    • Minetti, C.1    Beltrame, F.2    Marcenaro, G.3
  • 87
    • 0024313863 scopus 로고
    • Germinal mosaicism increases the recurrence risk for "new" Duchenne muscular dystrophy mutations
    • Bakker E, Veenema H, Den Dunnen JT. et al. Germinal mosaicism increases the recurrence risk for "new" Duchenne muscular dystrophy mutations. J Med Genet. 1989;26:553-559.
    • (1989) J Med Genet , vol.26 , pp. 553-559
    • Bakker, E.1    Veenema, H.2    Den Dunnen, J.T.3
  • 88
    • 0031970998 scopus 로고    scopus 로고
    • Prader-Willi and Angelman syndromes: Disorders of genomic imprinting
    • Cassidy SB, Schwartz S. Prader-Willi and Angelman syndromes: disorders of genomic imprinting. Medicine. 1998;77:140-151.
    • (1998) Medicine , vol.77 , pp. 140-151
    • Cassidy, S.B.1    Schwartz, S.2
  • 89
    • 0031981973 scopus 로고    scopus 로고
    • The mechanisms involved in formation of deletions and duplications of 15q11-q13
    • Robinson WP, Dutly F, Nicholls RD, et al. The mechanisms involved in formation of deletions and duplications of 15q11-q13. J Med Genet. 1998;35:130-136.
    • (1998) J Med Genet , vol.35 , pp. 130-136
    • Robinson, W.P.1    Dutly, F.2    Nicholls, R.D.3
  • 90
    • 0024440608 scopus 로고
    • Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome
    • Nicholls RD, Knoll JHM, Butler MG, et al. Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome. Nature. 1989;342:281-285.
    • (1989) Nature , vol.342 , pp. 281-285
    • Nicholls, R.D.1    Knoll, J.H.M.2    Butler, M.G.3
  • 91
    • 0030957564 scopus 로고    scopus 로고
    • DNA methylation in genomic imprinting
    • Tycko B. DNA methylation in genomic imprinting. Mutat Res. 1997;386:131-140
    • (1997) Mutat Res , vol.386 , pp. 131-140
    • Tycko, B.1
  • 93
    • 0030890115 scopus 로고    scopus 로고
    • The E6-AP ubiquitin-protein ligase (UBE3A) gene is localised within a narrowed Angelman syndrome critical region
    • Sutcliffe JS, Jiang YH, Galjarrd RJ, et al. The E6-AP ubiquitin-protein ligase (UBE3A) gene is localised within a narrowed Angelman syndrome critical region. Genome Res. 1997;7:368-377.
    • (1997) Genome Res , vol.7 , pp. 368-377
    • Sutcliffe, J.S.1    Jiang, Y.H.2    Galjarrd, R.J.3
  • 94
    • 0031228039 scopus 로고    scopus 로고
    • The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain
    • Rougeulle C, Glatt H, Lalande M. The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain. Nat Genet. 1997;17:14-15.
    • (1997) Nat Genet , vol.17 , pp. 14-15
    • Rougeulle, C.1    Glatt, H.2    Lalande, M.3
  • 95
    • 0031230614 scopus 로고    scopus 로고
    • Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain
    • Vu TH, Hoffman AR. Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain. Nat Genet. 1997;17:12-13.
    • (1997) Nat Genet , vol.17 , pp. 12-13
    • Vu, T.H.1    Hoffman, A.R.2
  • 96
    • 0031012849 scopus 로고    scopus 로고
    • UBE3A/E6AP mutations cause Angelman syndrome
    • Kishino T, Lalande M, Wagstaff J. UBE3A/E6AP mutations cause Angelman syndrome. Nat Genet. 1997;15:70-73.
    • (1997) Nat Genet , vol.15 , pp. 70-73
    • Kishino, T.1    Lalande, M.2    Wagstaff, J.3
  • 97
    • 0031031570 scopus 로고    scopus 로고
    • De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
    • Matsuura T, Sutcliffe JS, Fang P, et al. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nat Genet. 1997;15:74-77.
    • (1997) Nat Genet , vol.15 , pp. 74-77
    • Matsuura, T.1    Sutcliffe, J.S.2    Fang, P.3
  • 98
    • 0028289468 scopus 로고
    • Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome
    • Reed ML, Leff SE. Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome. Nat Genet. 1994;6:163-167.
    • (1994) Nat Genet , vol.6 , pp. 163-167
    • Reed, M.L.1    Leff, S.E.2
  • 99
    • 0026647855 scopus 로고
    • The frequency of uniparental disomy in Prader-Willi syndrome
    • Mascari MJ, Gottlieb W, Rogan PK, et al. The frequency of uniparental disomy in Prader-Willi syndrome. N Engl J Med. 1992;326:1599-1607.
    • (1992) N Engl J Med , vol.326 , pp. 1599-1607
    • Mascari, M.J.1    Gottlieb, W.2    Rogan, P.K.3
  • 100
    • 0028939902 scopus 로고
    • Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15
    • Buiting K, Saitoh S, Gross S, et al. Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nat Genet. 1995;9:395-400.
    • (1995) Nat Genet , vol.9 , pp. 395-400
    • Buiting, K.1    Saitoh, S.2    Gross, S.3
  • 101
    • 0031055875 scopus 로고    scopus 로고
    • Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation
    • Saitoh S, Buiting K, Cassidy SB, et al. Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation. Am J Med Genet. 1997;68:195-206.
    • (1997) Am J Med Genet , vol.68 , pp. 195-206
    • Saitoh, S.1    Buiting, K.2    Cassidy, S.B.3
  • 102
    • 0031747932 scopus 로고    scopus 로고
    • A mouse model for Prader-Willi syndrome imprinting-centre mutations
    • Yang T, Adamson TE, Resnick JL, et al. A mouse model for Prader-Willi syndrome imprinting-centre mutations. Nat Genet. 1998;19:25-31.
    • (1998) Nat Genet , vol.19 , pp. 25-31
    • Yang, T.1    Adamson, T.E.2    Resnick, J.L.3
  • 103
    • 0032574634 scopus 로고    scopus 로고
    • Genetic counseling in Angelman syndrome: The challenges of multiple causes
    • Stalker HJ, Williams CA. Genetic counseling in Angelman syndrome: the challenges of multiple causes. Am J Med Genet. 1998;77:54-59.
    • (1998) Am J Med Genet , vol.77 , pp. 54-59
    • Stalker, H.J.1    Williams, C.A.2
  • 104
    • 0031133081 scopus 로고    scopus 로고
    • Methylation-specific PCR simplifies imprinting analysis
    • Kubota T, Das S, Christian SL, et al. Methylation-specific PCR simplifies imprinting analysis. Nat Genet. 1997;16:16-17.
    • (1997) Nat Genet , vol.16 , pp. 16-17
    • Kubota, T.1    Das, S.2    Christian, S.L.3
  • 105
    • 0030665282 scopus 로고    scopus 로고
    • Prader-Willi and Angelman syndromes: Diagnosis with a bisulfite-treated methylation-specific PCR method
    • Kosaki K, McGinniss MJ, Veraksa AN, et al. Prader-Willi and Angelman syndromes: diagnosis with a bisulfite-treated methylation-specific PCR method. Am J Med Genet. 1997;73:308-313.
    • (1997) Am J Med Genet , vol.73 , pp. 308-313
    • Kosaki, K.1    McGinniss, M.J.2    Veraksa, A.N.3
  • 106
    • 0025868571 scopus 로고
    • DNA duplication associated with Charcot-Marie-Tooth disease type 1A
    • Lupski JR, Montes de Oca-Luna R, Slaugenhaupt S, et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell. 1991;66:219-232.
    • (1991) Cell , vol.66 , pp. 219-232
    • Lupski, J.R.1    Montes De Oca-Luna, R.2    Slaugenhaupt, S.3
  • 107
    • 0028810444 scopus 로고
    • Analysis of the CMT1A-REP repeat: Mapping crossover breakpoints in CMT1A and HNPP
    • Kiyosawa H, Chance PF. Analysis of the CMT1A-REP repeat: mapping crossover breakpoints in CMT1A and HNPP. Hum Molec Genet. 1995;4:2327-2334.
    • (1995) Hum Molec Genet , vol.4 , pp. 2327-2334
    • Kiyosawa, H.1    Chance, P.F.2
  • 108
    • 0027017033 scopus 로고
    • Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit
    • Pentao L, Wise CA, Chinault AC, et al. Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nat Genet. 1992;2:292-300.
    • (1992) Nat Genet , vol.2 , pp. 292-300
    • Pentao, L.1    Wise, C.A.2    Chinault, A.C.3
  • 109
    • 15144351197 scopus 로고
    • The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A
    • Patel PI, Roa BB, Welcher AA, et al. The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Cell. 1993;72:143-151.
    • (1993) Cell , vol.72 , pp. 143-151
    • Patel, P.I.1    Roa, B.B.2    Welcher, A.A.3
  • 110
    • 0026734046 scopus 로고
    • Trisomy 17p associated with Charcot-Marie-Tooth type 1A phenotype: Evidence for gene dosage as a mechanism in CMT1A
    • Chance PF, Bird TD, Matsumami N, et al. Trisomy 17p associated with Charcot-Marie-Tooth type 1A phenotype: evidence for gene dosage as a mechanism in CMT1A. Neurology. 1992;42:2295-2299.
    • (1992) Neurology , vol.42 , pp. 2295-2299
    • Chance, P.F.1    Bird, T.D.2    Matsumami, N.3
  • 111
    • 0029843863 scopus 로고    scopus 로고
    • Impaired differentiation of Schwann cells in transgenic mice with increased PMP22 dosage
    • Magyar JP, Martini R, Ruelicke T, et al. Impaired differentiation of Schwann cells in transgenic mice with increased PMP22 dosage. J. Neurosci. 1996;16:5351-5360.
    • (1996) J. Neurosci , vol.16 , pp. 5351-5360
    • Magyar, J.P.1    Martini, R.2    Ruelicke, T.3
  • 112
    • 0031031995 scopus 로고    scopus 로고
    • Patients homozygous for the 17p11.2 duplication in Charcot-Marie-tooth type 1A disease
    • LeGuem E, Goiuder R, Mabin D, et al. Patients homozygous for the 17p11.2 duplication in Charcot-Marie-tooth type 1A disease. Ann Neuro. 1997;47:104-108.
    • (1997) Ann Neuro , vol.47 , pp. 104-108
    • LeGuem, E.1    Goiuder, R.2    Mabin, D.3
  • 113
    • 0027031611 scopus 로고
    • Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A
    • Valentijn LJ, Bass F, Wolterman RA, et al. Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A. Nat Genet. 1992;2:288-291.
    • (1992) Nat Genet , vol.2 , pp. 288-291
    • Valentijn, L.J.1    Bass, F.2    Wolterman, R.A.3
  • 114
    • 0031972929 scopus 로고    scopus 로고
    • Overloaded endoplasmic reticulum-Golgi compartments, as a possible pathomechanism of peripheral neuropathies caused by mutations of the peripheral myelin protein PMP22
    • D'Urso D, Prior R, Greiner-Petter R, et al. Overloaded endoplasmic reticulum-Golgi compartments, as a possible pathomechanism of peripheral neuropathies caused by mutations of the peripheral myelin protein PMP22. J Neurosci. 1998;18:731-740.
    • (1998) J Neurosci , vol.18 , pp. 731-740
    • D'Urso, D.1    Prior, R.2    Greiner-Petter, R.3
  • 115
    • 0021750055 scopus 로고
    • Characterization of the human factor VIII gene
    • Gitschier J, Wood WI, Goralka TM, et al. Characterization of the human factor VIII gene. Nature. 1984;312:326-330.
    • (1984) Nature , vol.312 , pp. 326-330
    • Gitschier, J.1    Wood, W.I.2    Goralka, T.M.3
  • 116
  • 117
    • 0027520025 scopus 로고
    • Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
    • Lakich D, Kazazian HH, Antonarakis SE, et al. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nat Genet. 1993;5:236-241.
    • (1993) Nat Genet , vol.5 , pp. 236-241
    • Lakich, D.1    Kazazian, H.H.2    Antonarakis, S.E.3
  • 118
    • 0028180964 scopus 로고
    • Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells
    • Rossiter JP, Young M, Kimberland ML, et al. Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells. Hum Molec Genet. 1994;3:1035-1039.
    • (1994) Hum Molec Genet , vol.3 , pp. 1035-1039
    • Rossiter, J.P.1    Young, M.2    Kimberland, M.L.3
  • 119
    • 0032529667 scopus 로고    scopus 로고
    • Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in hemophilia A
    • Liu Q, Nozari G, Sommer SS. Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in hemophilia A. Blood. 1998;92:1458-1459.
    • (1998) Blood , vol.92 , pp. 1458-1459
    • Liu, Q.1    Nozari, G.2    Sommer, S.S.3
  • 120
    • 0030056332 scopus 로고    scopus 로고
    • Analysis of factor VIII gene inversion mutations in 166 unrelated haemophilia A families: Frequency and utility in genetic counselling
    • Vnencak-Jones CL, Phillips JA, Janco RL, et al. Analysis of factor VIII gene inversion mutations in 166 unrelated haemophilia A families: frequency and utility in genetic counselling. Haemophilia. 1996;2:18-23.
    • (1996) Haemophilia , vol.2 , pp. 18-23
    • Vnencak-Jones, C.L.1    Phillips, J.A.2    Janco, R.L.3
  • 121
    • 0030769458 scopus 로고    scopus 로고
    • Prevalence of anti-FVIII antibodies in severe haemophilia A patients with inversion of intron 22
    • Vianello F, Radossi P, Tison T, et al. Prevalence of anti-FVIII antibodies in severe haemophilia A patients with inversion of intron 22. Br J Haematol. 1997;97:807-809.
    • (1997) Br J Haematol , vol.97 , pp. 807-809
    • Vianello, F.1    Radossi, P.2    Tison, T.3


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