메뉴 건너뛰기




Volumn 63, Issue 2, 1998, Pages 506-516

Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34, by genome scan using five affected individuals

Author keywords

[No Author keywords available]

Indexed keywords

AKINESIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOMAL LOCALIZATION; CHROMOSOME 9Q; FETUS; FETUS DEATH; FETUS DISEASE; FETUS HYDROPS; GENE LINKAGE DISEQUILIBRIUM; GENETIC LINKAGE; HAPLOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; JOINT CONTRACTURE; LETHAL CONGENITAL CONTRACTURE SYNDROME; MOTONEURON; NERVE CELL DEGENERATION; PHENOTYPE; PRIORITY JOURNAL; SPINAL CORD DISEASE;

EID: 1642633543     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301968     Document Type: Article
Times cited : (49)

References (45)
  • 2
    • 0028065442 scopus 로고
    • Molecular cloning and expression of a cDNA encoding NGAL: A lipocalin expressed in human neutrophils
    • Bundgaard JR, Sengelov H, Borregaard N, Kjeldsen L (1994); Molecular cloning and expression of a cDNA encoding NGAL: a lipocalin expressed in human neutrophils. Biochem Biophys Res Commun 202:1468-1475
    • (1994) Biochem Biophys Res Commun , vol.202 , pp. 1468-1475
    • Bundgaard, J.R.1    Sengelov, H.2    Borregaard, N.3    Kjeldsen, L.4
  • 3
    • 9544255675 scopus 로고    scopus 로고
    • Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association
    • Burglen L, Amiel J, Viollet L, Lefebvre S, Burlet P, Clermont O, Raclin V, et al (1996) Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association. J Clin Invest 98:1130-1132
    • (1996) J Clin Invest , vol.98 , pp. 1130-1132
    • Burglen, L.1    Amiel, J.2    Viollet, L.3    Lefebvre, S.4    Burlet, P.5    Clermont, O.6    Raclin, V.7
  • 4
    • 0023552582 scopus 로고
    • Nonrandom chromosome abnormality in childhood B-cell precursor acute lymphoblastic leukemia: A pediatric Oncology Group Study
    • Carroll AJ, Raimondi SC, Williams DL, Behm FG, Borowitz M, Castleberry RP, Harris MB, et al (1987) Nonrandom chromosome abnormality in childhood B-cell precursor acute lymphoblastic leukemia: a pediatric Oncology Group Study. Blood 70:1962-1965
    • (1987) Blood , vol.70 , pp. 1962-1965
    • Carroll, A.J.1    Raimondi, S.C.2    Williams, D.L.3    Behm, F.G.4    Borowitz, M.5    Castleberry, R.P.6    Harris, M.B.7
  • 5
    • 0028136235 scopus 로고
    • Comparative mapping of lipacalin genes in human and mouse: Four genes for complement C8 gamma chain, prostaglandin-D-synthase, oncogene-24P3 and prostagem-associated endometrial protein map to HSA9 and MMU2
    • Chan P, Simon-Chazottes D, Mattel MG, Guenet JL, Salier JP (1994) Comparative mapping Of lipacalin genes in human and mouse: four genes for complement C8 gamma chain, prostaglandin-D-synthase, oncogene-24P3 and prostagem-associated endometrial protein map to HSA9 and MMU2. Genomics 23:145-150
    • (1994) Genomics , vol.23 , pp. 145-150
    • Chan, P.1    Simon-Chazottes, D.2    Mattel, M.G.3    Guenet, J.L.4    Salier, J.P.5
  • 6
    • 0028989016 scopus 로고
    • Notch 1 is required for the coordinate segmentation of somites
    • Conlon RA, Reaume AG, Rossant J (1995) Notch 1 is required for the coordinate segmentation of somites. Development 121:1533-1545
    • (1995) Development , vol.121 , pp. 1533-1545
    • Conlon, R.A.1    Reaume, A.G.2    Rossant, J.3
  • 7
    • 0031260224 scopus 로고    scopus 로고
    • Molecular characterization and pattern of tissue expression of the gene for neutrophil gelatinase-associated lipocalin from humans
    • Cowland JB, Borregaard N (1997) Molecular characterization and pattern of tissue expression of the gene for neutrophil gelatinase-associated lipocalin from humans. Genomics 45: 17-23
    • (1997) Genomics , vol.45 , pp. 17-23
    • Cowland, J.B.1    Borregaard, N.2
  • 8
    • 0027507885 scopus 로고
    • Disease mapping in isolated human populations: The example of Finland
    • de la Chapelle A (1993) Disease mapping in isolated human populations: the example of Finland. J Med Genet 30: 857-865
    • (1993) J Med Genet , vol.30 , pp. 857-865
    • De La Chapelle, A.1
  • 10
    • 0025856717 scopus 로고
    • TAN-1, the human homolog of the Drosophila notch gene, is broken by chromosomal translocations in T lymphoblastic neoplasms
    • Ellisen LW, Bird J, West DC, Soreng AL, Reynolds TC, Smith SD, Sklar J (1991) TAN-1, the human homolog of the Drosophila notch gene, is broken by chromosomal translocations in T lymphoblastic neoplasms. Cell 66:649-661
    • (1991) Cell , vol.66 , pp. 649-661
    • Ellisen, L.W.1    Bird, J.2    West, D.C.3    Soreng, A.L.4    Reynolds, T.C.5    Smith, S.D.6    Sklar, J.7
  • 11
    • 0028102760 scopus 로고
    • The lipocalin protein family: A role in cell regulation
    • Flower D (1994) The lipocalin protein family: a role in cell regulation. FEBS Lett 354:7-11
    • (1994) FEBS Lett , vol.354 , pp. 7-11
    • Flower, D.1
  • 12
    • 0026949420 scopus 로고
    • Linkage disequilibrium mapping in isolated founder populations: Diastrophic dysplasia in Finland
    • erratum, Nat Genet 2:343 [1992]
    • Hästbacka J, de la Chapelle A, Kaitila I, Sistonen P, Weaver A, Lander E (1992) Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. Nat Genet 2:204-211 (erratum, Nat Genet 2:343 [1992])
    • (1992) Nat Genet , vol.2 , pp. 204-211
    • Hästbacka, J.1    De La Chapelle, A.2    Kaitila, I.3    Sistonen, P.4    Weaver, A.5    Lander, E.6
  • 13
    • 0029935686 scopus 로고    scopus 로고
    • Fiber-FISH: Experiences and a refined protocol
    • Heiskanen M, Kallioniemi O, Palotie A (1996) Fiber-FISH: experiences and a refined protocol. Genet Anal 12(5-6): 179-184
    • (1996) Genet Anal , vol.12 , Issue.5-6 , pp. 179-184
    • Heiskanen, M.1    Kallioniemi, O.2    Palotie, A.3
  • 14
    • 0028036668 scopus 로고
    • High resolution mapping using fluorescence in situ hybridization (FISH) to extended DNA fibers prepared from agarose-embedded cells
    • Heiskanen M, Karhu R, Hellsten E, Peltonen L, Kallioniemi OP, Palotie A (1994) High resolution mapping using fluorescence in situ hybridization (FISH) to extended DNA fibers prepared from agarose-embedded cells. Biotechniques 17: 928-934
    • (1994) Biotechniques , vol.17 , pp. 928-934
    • Heiskanen, M.1    Karhu, R.2    Hellsten, E.3    Peltonen, L.4    Kallioniemi, O.P.5    Palotie, A.6
  • 15
    • 0027315230 scopus 로고
    • Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLN1) locus at 1p32: Incorporation of linkage disequilibrium in multipoint analysis
    • Hellsten E, Vesa J, Speer MC, Makela TP, Jarvela I, Alitalo K, Ott J, et al (1993) Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLN1) locus at 1p32: incorporation of linkage disequilibrium in multipoint analysis. Genomics 16:720-725
    • (1993) Genomics , vol.16 , pp. 720-725
    • Hellsten, E.1    Vesa, J.2    Speer, M.C.3    Makela, T.P.4    Jarvela, I.5    Alitalo, K.6    Ott, J.7
  • 16
    • 0023855138 scopus 로고
    • A syndrome of multiple congenital contractures: Neuropathological analysis on five fetal cases
    • Herva R, Conradi NG, Kalimo H, Leisti J, Sourander P (1988) A syndrome of multiple congenital contractures: neuropathological analysis on five fetal cases. Am J Med Genet 29:67-76
    • (1988) Am J Med Genet , vol.29 , pp. 67-76
    • Herva, R.1    Conradi, N.G.2    Kalimo, H.3    Leisti, J.4    Sourander, P.5
  • 17
    • 0021915345 scopus 로고
    • A lethal autosomal recessive syndrome of multiple congenital contractures
    • Herva R, Leisti J, Kirkinen P, Seppanen U (1985) A lethal autosomal recessive syndrome of multiple congenital contractures. Am J Med Genet 20:431-439
    • (1985) Am J Med Genet , vol.20 , pp. 431-439
    • Herva, R.1    Leisti, J.2    Kirkinen, P.3    Seppanen, U.4
  • 20
    • 0028143269 scopus 로고
    • Analysis of changes in DNA sequence copy number by comparative genomic hybridization in archival paraffin-embedded tumor samples
    • Isola J, De Vries S, Chu L, Ghazvini S, Waldman F (1994) Analysis of changes in DNA sequence copy number by comparative genomic hybridization in archival paraffin-embedded tumor samples. Am J Pathol 145:1301-1308
    • (1994) Am J Pathol , vol.145 , pp. 1301-1308
    • Isola, J.1    De Vries, S.2    Chu, L.3    Ghazvini, S.4    Waldman, F.5
  • 22
    • 0028605515 scopus 로고
    • The human NOTCH1, 2, and 3 genes are located at chromosome positions 9q34, 1p13-p11, and 19p13.2-p13.1 in regions of neoplasia-associated translocation
    • Larsson C, Lardelli M, White I, Lendahl U (1994) The human NOTCH1, 2, and 3 genes are located at chromosome positions 9q34, 1p13-p11, and 19p13.2-p13.1 in regions of neoplasia-associated translocation. Genomics 24:253-258
    • (1994) Genomics , vol.24 , pp. 253-258
    • Larsson, C.1    Lardelli, M.2    White, I.3    Lendahl, U.4
  • 23
    • 0021344005 scopus 로고
    • Easy calculations of lod scores and genetic risks on small computers
    • Lathrop GM, Lalouel JM (1984) Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 36:460-465
    • (1984) Am J Hum Genet , vol.36 , pp. 460-465
    • Lathrop, G.M.1    Lalouel, J.M.2
  • 25
    • 0022646961 scopus 로고
    • Construction of human linkage maps: Likelihood calculations for multilocus linkage analysis
    • Lathrop GM, Lalouel JM, White RL (1986) Construction of human linkage maps: likelihood calculations for multilocus linkage analysis. Genet Epidemiol 3:39-52
    • (1986) Genet Epidemiol , vol.3 , pp. 39-52
    • Lathrop, G.M.1    Lalouel, J.M.2    White, R.L.3
  • 26
    • 0027386233 scopus 로고
    • Antineurogenic phenotypes induced by truncated Notch proteins indicate a role of signal transduction and may point to novel a function for Notch in nuclei
    • Lieber T, Kidd S, Alcamo V, Corbin M, Young MW (1993) Antineurogenic phenotypes induced by truncated Notch proteins indicate a role of signal transduction and may point to novel a function for Notch in nuclei. Genes Dev 7: 1949-1965
    • (1993) Genes Dev , vol.7 , pp. 1949-1965
    • Lieber, T.1    Kidd, S.2    Alcamo, V.3    Corbin, M.4    Young, M.W.5
  • 27
    • 0001641514 scopus 로고
    • Mutations of bacteria from virus sensitivity to virus resistance
    • Luria SE, Delbrück M (1943) Mutations of bacteria from virus sensitivity to virus resistance. Genetics 28:491-511
    • (1943) Genetics , vol.28 , pp. 491-511
    • Luria, S.E.1    Delbrück, M.2
  • 28
    • 0028949919 scopus 로고
    • Random search for shared chromosomal regions in four affected individuals: The assignment of a new hereditary ataxia locus
    • Nikali K, Suomalainen A, Terwilliger J, Koskinen T, Weissenbach J, Peltonen L (1995) Random search for shared chromosomal regions in four affected individuals: the assignment of a new hereditary ataxia locus. Am J Hum Genet 56: 1088-1095
    • (1995) Am J Hum Genet , vol.56 , pp. 1088-1095
    • Nikali, K.1    Suomalainen, A.2    Terwilliger, J.3    Koskinen, T.4    Weissenbach, J.5    Peltonen, L.6
  • 29
    • 0015858194 scopus 로고
    • Hereditary diseases in Finland; rare flora in rare soil
    • Norio R, Nevanlinna HR, Perheentupa J (1973) Hereditary diseases in Finland; rare flora in rare soil. Ann Clin Res 5: 109-141
    • (1973) Ann Clin Res , vol.5 , pp. 109-141
    • Norio, R.1    Nevanlinna, H.R.2    Perheentupa, J.3
  • 30
    • 0022919732 scopus 로고
    • Linkage probability and its approximate confidence interval under possible heterogeneity
    • Ott J (1986) linkage probability and its approximate confidence interval under possible heterogeneity. Genet Epidemiol Suppl 1:251-257
    • (1986) Genet Epidemiol Suppl , vol.1 , pp. 251-257
    • Ott, J.1
  • 31
    • 0039513062 scopus 로고
    • Computer-simulation methods in human linkage analysis
    • Ott J (1989) Computer-simulation methods in human linkage analysis. Proc Nad Acad Sci USA 86:4175-4178
    • (1989) Proc Nad Acad Sci USA , vol.86 , pp. 4175-4178
    • Ott, J.1
  • 34
    • 0029926857 scopus 로고    scopus 로고
    • Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: Further delineation on the basis of SMN gene deletion findings
    • Rudnik-Schoneborn S, Forkert R, Hahnen E, Wirth B, Zerres K (1996) Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings. Neuropediatrics 27:8-15
    • (1996) Neuropediatrics , vol.27 , pp. 8-15
    • Rudnik-Schoneborn, S.1    Forkert, R.2    Hahnen, E.3    Wirth, B.4    Zerres, K.5
  • 36
    • 0028865860 scopus 로고
    • A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps
    • Sheffield V, Weber J, Buetow K, Murray J, Viles K, Gastier J (1995) A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps. Hum Mol Genet 4:1837-1844
    • (1995) Hum Mol Genet , vol.4 , pp. 1837-1844
    • Sheffield, V.1    Weber, J.2    Buetow, K.3    Murray, J.4    Viles, K.5    Gastier, J.6
  • 37
    • 0002489085 scopus 로고
    • Climatic conditions for the cultivation of rye with reference to the history of settlement in Finland
    • Solantie R (1988) Climatic conditions for the cultivation of rye with reference to the history of settlement in Finland. Fennoscandia Archaelogia 5:3-20
    • (1988) Fennoscandia Archaelogia , vol.5 , pp. 3-20
    • Solantie, R.1
  • 38
    • 0024437865 scopus 로고
    • Direct sequencing of affinity-captured amplified human DNA: Application to the detection of apolipoprotein e polymorphism
    • Syvänen A-C, Sajantila A, Aalto-Setälä K, Kontula K, Söderlung H (1989) Direct sequencing of affinity-captured amplified human DNA: application to the detection of apolipoprotein E polymorphism. FEBS Lett 258:71-72
    • (1989) FEBS Lett , vol.258 , pp. 71-72
    • Syvänen, A.-C.1    Sajantila, A.2    Aalto-Setälä, K.3    Kontula, K.4    Söderlung, H.5
  • 39
    • 0028968329 scopus 로고
    • A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci
    • Terwilliger JD (1995) A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci. Am J Hum Genet 56: 777-787
    • (1995) Am J Hum Genet , vol.56 , pp. 777-787
    • Terwilliger, J.D.1
  • 40
    • 0029812169 scopus 로고    scopus 로고
    • Tracing an ancestral mutation: Genealogical and haplotype analysis of the infantile onset spinocerebellar ataxia locus
    • Varilo T, Nikali K, Suomalainen A, Lonnqvist T, Peltonen L (1996a) Tracing an ancestral mutation: genealogical and haplotype analysis of the infantile onset spinocerebellar ataxia locus. Genome Res 6:870-875
    • (1996) Genome Res , vol.6 , pp. 870-875
    • Varilo, T.1    Nikali, K.2    Suomalainen, A.3    Lonnqvist, T.4    Peltonen, L.5
  • 41
    • 0030028560 scopus 로고    scopus 로고
    • The age of human mutation: Genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population
    • Varilo T, Savukoski M, Norio R, Santavuori P, Peltonen L, Järvelä I (1996b) The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population. Am J Hum Genet 58:506-512
    • (1996) Am J Hum Genet , vol.58 , pp. 506-512
    • Varilo, T.1    Savukoski, M.2    Norio, R.3    Santavuori, P.4    Peltonen, L.5    Järvelä, I.6
  • 42
    • 0028338608 scopus 로고
    • Lethal congenital contracture syndrome: Further delineation and genetic aspects
    • Vuopala K, Herva R (1994) Lethal congenital contracture syndrome: further delineation and genetic aspects. J Med Genet 31:521-527
    • (1994) J Med Genet , vol.31 , pp. 521-527
    • Vuopala, K.1    Herva, R.2
  • 43
    • 0028603613 scopus 로고
    • Lethal arthrogryposis in Finland - A clinicopathological study of 83 cases during thirteen years
    • Vuopala K, Leisti J, Herva R (1994) Lethal arthrogryposis in Finland - a clinicopathological study of 83 cases during thirteen years. Neuropediatrics 25:308-315
    • (1994) Neuropediatrics , vol.25 , pp. 308-315
    • Vuopala, K.1    Leisti, J.2    Herva, R.3
  • 44
    • 0028950530 scopus 로고
    • Lethal congenital contracture syndrome (LCCS), a fetal anterior horn cell disease, is not linked to the SMa 5q locus
    • Vuopala K, Makela-Bengs P, Suomalainen A, Herva R, Leisti J, Peltonen L (1995) Lethal congenital contracture syndrome (LCCS), a fetal anterior horn cell disease, is not linked to the SMA 5q locus. J Med Genet 32:36-38
    • (1995) J Med Genet , vol.32 , pp. 36-38
    • Vuopala, K.1    Makela-Bengs, P.2    Suomalainen, A.3    Herva, R.4    Leisti, J.5    Peltonen, L.6
  • 45
    • 0000801438 scopus 로고
    • SLINK: A general simulation program for linkage analysis
    • Weeks DE, Ott J, Lathrop GM (1990) SLINK: a general simulation program for linkage analysis. Am J Hum Genet Suppl 47:A204
    • (1990) Am J Hum Genet Suppl , vol.47
    • Weeks, D.E.1    Ott, J.2    Lathrop, G.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.