메뉴 건너뛰기




Volumn , Issue , 2006, Pages 58-73

Molecular genetic findings in prader-willi syndrome

Author keywords

[No Author keywords available]

Indexed keywords


EID: 41849085475     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-0-387-33536-0_3     Document Type: Chapter
Times cited : (8)

References (77)
  • 1
    • 0033361765 scopus 로고    scopus 로고
    • Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints
    • Amos-Landgraf JM, Ji Y, Gottlieb W, et al. Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints. American Journal of Human Genetics. 1999;65:370-386.
    • (1999) American Journal of Human Genetics , vol.65 , pp. 370-386
    • Amos-Landgraf, J.M.1    Ji, Y.2    Gottlieb, W.3
  • 2
    • 0034103656 scopus 로고    scopus 로고
    • De novo deletions of the SNRPN exon 1 region in early human and mouse embryos result in a paternal to maternal imprint switch
    • Bielinska B, Blaydes SM, Buiting K, et al. De novo deletions of the SNRPN exon 1 region in early human and mouse embryos result in a paternal to maternal imprint switch. Nature Genetics. 2000;25:74-78.
    • (2000) Nature Genetics , vol.25 , pp. 74-78
    • Bielinska, B.1    Blaydes, S.M.2    Buiting, K.3
  • 3
    • 0042828957 scopus 로고    scopus 로고
    • Microarray analysis of gene/transcript expression in Prader-Willi syndrome: Deletion versus UPD
    • Bittel DC, Kibiryeva N, Talebizadeh Z, Butler MG. Microarray analysis of gene/transcript expression in Prader-Willi syndrome: deletion versus UPD. Journal of Medical Genetics. 2003;40:568-574.
    • (2003) Journal of Medical Genetics , vol.40 , pp. 568-574
    • Bittel, D.C.1    Kibiryeva, N.2    Talebizadeh, Z.3    Butler, M.G.4
  • 4
    • 10644257888 scopus 로고    scopus 로고
    • Microarray analysis of gene/transcript expression in Angelman syndrome: Deletion versus UPD
    • Bittel DC, Kibiryeva N, Talebizadeh Z, Driscoll DJ, Butler MG. Microarray analysis of gene/transcript expression in Angelman syndrome: deletion versus UPD. Genomics. 2005;85:85-91.
    • (2005) Genomics , vol.85 , pp. 85-91
    • Bittel, D.C.1    Kibiryeva, N.2    Talebizadeh, Z.3    Driscoll, D.J.4    Butler, M.G.5
  • 7
    • 0034931032 scopus 로고    scopus 로고
    • The SNRPN promoter is not required for genomic imprinting of the Prader-Willi/Angelman domain in mice
    • Bressler J, Tsai TF, Wu MY, et al. The SNRPN promoter is not required for genomic imprinting of the Prader-Willi/Angelman domain in mice. Nature Genetics. 2001;28:232-240.
    • (2001) Nature Genetics , vol.28 , pp. 232-240
    • Bressler, J.1    Tsai, T.F.2    Wu, M.Y.3
  • 8
    • 0031568864 scopus 로고    scopus 로고
    • Identification of novel exons 3' of the human SNRPN gene
    • Buiting K, Dittrich B, Endele S, Horsthemke B. Identification of novel exons 3' of the human SNRPN gene. Genomics. 1997;40:132-137.
    • (1997) Genomics , vol.40 , pp. 132-137
    • Buiting, K.1    Dittrich, B.2    Endele, S.3    Horsthemke, B.4
  • 9
    • 0032231460 scopus 로고    scopus 로고
    • Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: Implications for imprint-switch models, genetic counseling, and prenatal diagnosis
    • Buiting K, Dittrich B, Groß S, et al. Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis. American Journal of Human Genetics. 1998;63:170-180.
    • (1998) American Journal of Human Genetics , vol.63 , pp. 170-180
    • Buiting, K.1    Dittrich, B.2    Groß, S.3
  • 10
    • 0033819865 scopus 로고    scopus 로고
    • Imprinting centre deletions in two PWS families: Implications for diagnostic testing and genetic counseling
    • Buiting K, Färber C, Kroisel P, et al. Imprinting centre deletions in two PWS families: implications for diagnostic testing and genetic counseling. Clinical Genetics. 2000;58:284-290.
    • (2000) Clinical Genetics , vol.58 , pp. 284-290
    • Buiting, K.1    Färber, C.2    Kroisel, P.3
  • 11
    • 0026636630 scopus 로고
    • A putative gene family in 15q11-13 and 16p11.2: Possible implications for Prader-Willi and Angelman syndromes
    • Buiting K, Greger V, Brownstein BH, et al. A putative gene family in 15q11-13 and 16p11.2: possible implications for Prader-Willi and Angelman syndromes. Proceedings of the National Academy of Science USA. 1992;89:5457-5461.
    • (1992) Proceedings of the National Academy of Science USA , vol.89 , pp. 5457-5461
    • Buiting, K.1    Greger, V.2    Brownstein, B.H.3
  • 12
    • 0031663726 scopus 로고    scopus 로고
    • Expressed copies of the MN7 (D15S37) gene family map close to the common deletion breakpoints in the Prader-Willi/Angelman syndromes
    • Buiting K, Groß S, Ji Y, Senger G, Nicholls RD, Horsthemke B. Expressed copies of the MN7 (D15S37) gene family map close to the common deletion breakpoints in the Prader-Willi/Angelman syndromes. Cytogenetics and Cell Genetics. 1998;81:247-253.
    • (1998) Cytogenetics and Cell Genetics , vol.81 , pp. 247-253
    • Buiting, K.1    Groß, S.2    Ji, Y.3    Senger, G.4    Nicholls, R.D.5    Horsthemke, B.6
  • 14
    • 0033396274 scopus 로고    scopus 로고
    • A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp
    • Buiting K, Lich C, Cottrell S, Barnicoat A, Horsthemke B. A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp. Human Genetic. 1999;105:665-666.
    • (1999) Human Genetic , vol.105 , pp. 665-666
    • Buiting, K.1    Lich, C.2    Cottrell, S.3    Barnicoat, A.4    Horsthemke, B.5
  • 16
    • 0028939902 scopus 로고
    • Nature Genetics. 1995;9:395-400.
    • (1995) Nature Genetics , vol.9 , pp. 395-400
  • 17
    • 0037101850 scopus 로고    scopus 로고
    • Familial interstitial 570 kbp deletion of the UBE3A gene region causing Angelman syndrome but not Prader-Willi syndrome
    • Bürger J, Horn D, Tonnies H, Neitzel H, Reis A. Familial interstitial 570 kbp deletion of the UBE3A gene region causing Angelman syndrome but not Prader-Willi syndrome. American Journal of Medical Genetics. 2002;111:233-237.
    • (2002) American Journal of Medical Genetics , vol.111 , pp. 233-237
    • Bürger, J.1    Horn, D.2    Tonnies, H.3    Neitzel, H.4    Reis, A.5
  • 18
    • 0025181455 scopus 로고
    • Prader-Willi syndrome: Current understanding of cause and diagnosis
    • Butler MG. Prader-Willi syndrome: current understanding of cause and diagnosis. American Journal of Medical Genetics. 1990;35:319-332.
    • (1990) American Journal of Medical Genetics , vol.35 , pp. 319-332
    • Butler, M.G.1
  • 19
    • 1442323876 scopus 로고    scopus 로고
    • Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy
    • Butler MG, Bittel DC, Kibiryeva N, Talebizadeh Z, Thompson T. Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy. Pediatrics. 2004;113:565-573.
    • (2004) Pediatrics , vol.113 , pp. 565-573
    • Butler, M.G.1    Bittel, D.C.2    Kibiryeva, N.3    Talebizadeh, Z.4    Thompson, T.5
  • 20
    • 0021094659 scopus 로고
    • Parental origin of chromosome 15 deletion in Prader-Willi syndrome
    • Butler MG, Palmer CG. Parental origin of chromosome 15 deletion in Prader-Willi syndrome. Lancet. 1983;1:1285-1286.
    • (1983) Lancet , vol.1 , pp. 1285-1286
    • Butler, M.G.1    Palmer, C.G.2
  • 21
    • 0030863574 scopus 로고    scopus 로고
    • Inter-and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome
    • Carrozzo R, Rossi E, Christian SL, et al. Inter-and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome. American Journal of Human Genetics. 1997;61:228-230.
    • (1997) American Journal of Human Genetics , vol.61 , pp. 228-230
    • Carrozzo, R.1    Rossi, E.2    Christian, S.L.3
  • 22
    • 0027017879 scopus 로고
    • A candidate mouse model for Prader-Willi syndrome which shows an absence of SNRPN expression
    • Cattanach BM, Barr JA, Evans EP, et al. A candidate mouse model for Prader-Willi syndrome which shows an absence of SNRPN expression. Nature Genetics. 1992;2:270-274.
    • (1992) Nature Genetics , vol.2 , pp. 270-274
    • Cattanach, B.M.1    Barr, J.A.2    Evans, E.P.3
  • 23
    • 0034687740 scopus 로고    scopus 로고
    • Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization
    • Cavaillé J, Buiting K, Kiefmann M, et al. Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization. Proceedings of the National Academy of Science USA. 2000;7:14311-14316.
    • (2000) Proceedings of the National Academy of Science USA , vol.7 , pp. 14311-14316
    • Cavaillé, J.1    Buiting, K.2    Kiefmann, M.3
  • 24
    • 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
    • Chai JH, Locke DP, Greally JM, et al. 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. American Journal of Human Genetics. 2003;73:898-925.
    • (2003) American Journal of Human Genetics , vol.73 , pp. 898-925
    • Chai, J.H.1    Locke, D.P.2    Greally, J.M.3
  • 25
    • 9744241653 scopus 로고    scopus 로고
    • Evidence for genetic modifiers of postnatal lethality in PWS-IC deletion mice
    • Chamberlain SJ, Johnstone KA, DuBose AJ, et al. Evidence for genetic modifiers of postnatal lethality in PWS-IC deletion mice. Human Molecular Genetics. 2004;13(23):2971-2977.
    • (2004) Human Molecular Genetics , vol.13 , Issue.23 , pp. 2971-2977
    • Chamberlain, S.J.1    Johnstone, K.A.2    DuBose, A.J.3
  • 26
    • 0032971379 scopus 로고    scopus 로고
    • Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13)
    • Christian SL, Fantes JA, Mewborn SK, Huang B, Ledbetter DH. Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13). Human Molecular Genetics. 1999;8:1025-1037.
    • (1999) Human Molecular Genetics , vol.8 , pp. 1025-1037
    • Christian, S.L.1    Fantes, J.A.2    Mewborn, S.K.3    Huang, B.4    Ledbetter, D.H.5
  • 27
    • 0029011991 scopus 로고
    • Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients
    • Christian SL, Robinson WP, Huang B. et al. Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients. American Journal of Human Genetics. 1995;57:40-48.
    • (1995) American Journal of Human Genetics , vol.57 , pp. 40-48
    • Christian, S.L.1    Robinson, W.P.2    Huang, B.3
  • 28
    • 0028821373 scopus 로고
    • Supernumerary marker 15 chromosomes: A clinical, molecular and FISH approach to diagnosis and prognosis
    • Crolla JA, Harvey JF, Slitch LF, Dennis NR. Supernumerary marker 15 chromosomes: a clinical, molecular and FISH approach to diagnosis and prognosis. Human Genetics. 1995;95:161-170.
    • (1995) Human Genetics , vol.95 , pp. 161-170
    • Crolla, J.A.1    Harvey, J.F.2    Slitch, L.F.3    Dennis, N.R.4
  • 29
    • 0030761243 scopus 로고    scopus 로고
    • Balanced translocation 46, XY, t (2;15) (q37.2;q11.2) associated with atypical Prader-Willi syndrome
    • Conroy JM, Grebe TA, Becker LA, et al. Balanced translocation 46, XY, t (2;15) (q37.2;q11.2) associated with atypical Prader-Willi syndrome. American Journal of Human Genetics. 1997;61:388-394.
    • (1997) American Journal of Human Genetics , vol.61 , pp. 388-394
    • Conroy, J.M.1    Grebe, T.A.2    Becker, L.A.3
  • 30
    • 10144234124 scopus 로고    scopus 로고
    • Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene
    • Dittrich B, Buiting K, Korn B, et al. Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene. Nature Genetics. 1996;14:163-170.
    • (1996) Nature Genetics , vol.14 , pp. 163-170
    • Dittrich, B.1    Buiting, K.2    Korn, B.3
  • 31
    • 0035090961 scopus 로고    scopus 로고
    • Maternal methylation imprints on human chromosome 15 are established during or after fertilization
    • El-Maarri O, Buiting K, Peery EG. Maternal methylation imprints on human chromosome 15 are established during or after fertilization. Nature Genetics. 2001;27:341-344.
    • (2001) Nature Genetics , vol.27 , pp. 341-344
    • El-Maarri, O.1    Buiting, K.2    Peery, E.G.3
  • 32
    • 17144438935 scopus 로고    scopus 로고
    • The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion
    • Färber C, Dittrich B, Buiting K, Horsthemke B. The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion. Human Molecular Genetics. 1999;8:337-343.
    • (1999) Human Molecular Genetics , vol.8 , pp. 337-343
    • Färber, C.1    Dittrich, B.2    Buiting, K.3    Horsthemke, B.4
  • 33
    • 0033529801 scopus 로고    scopus 로고
    • A transgene insertion creating a heritable chromosome deletion mouse model of Prader-Willi and Angelman syndromes
    • Gabriel J, Merchant M, Ohta T, et al. A transgene insertion creating a heritable chromosome deletion mouse model of Prader-Willi and Angelman syndromes. Proceedings of the National Academy of Sciences USA. 1999;96:9258-9263.
    • (1999) Proceedings of the National Academy of Sciences USA , vol.96 , pp. 9258-9263
    • Gabriel, J.1    Merchant, M.2    Ohta, T.3
  • 34
    • 0345062183 scopus 로고    scopus 로고
    • Disruption of the mouse Necdin gene results in early post-natal lethality
    • Gerard M, Hernandez L, Wevrick R, Stewart CL. Disruption of the mouse Necdin gene results in early post-natal lethality. Nature Genetics. 1999;23:199-202.
    • (1999) Nature Genetics , vol.23 , pp. 199-202
    • Gerard, M.1    Hernandez, L.2    Wevrick, R.3    Stewart, C.L.4
  • 36
    • 0026348029 scopus 로고
    • DNA deletion and its parental origin in Angelman syndrome patients
    • Hamabe J, Kuroki Y, Imaizumi K, et al. DNA deletion and its parental origin in Angelman syndrome patients. American Journal of Medical Genetics. 1991;41(1):64-68.
    • (1991) American Journal of Medical Genetics , vol.41 , Issue.1 , pp. 64-68
    • Hamabe, J.1    Kuroki, Y.2    Imaizumi, K.3
  • 37
    • 0034991011 scopus 로고    scopus 로고
    • The human aminophospholipidtransporting ATPase gene ATP10C maps adjacent to UBE3A and exhibits similar imprinted expression
    • Herzing LB, Kim SJ, Cook EH, Ledbetter DH. The human aminophospholipidtransporting ATPase gene ATP10C maps adjacent to UBE3A and exhibits similar imprinted expression. American Journal of Human Genetics. 2001;68:1501-1505.
    • (2001) American Journal of Human Genetics , vol.68 , pp. 1501-1505
    • Herzing, L.B.1    Kim, S.J.2    Cook, E.H.3    Ledbetter, D.H.4
  • 38
    • 0142185334 scopus 로고    scopus 로고
    • Somatic mosaicism for maternal uniparental disomy 15 in a girl with Prader-Willi syndrome: Confirmation by cell cloning and identification of candidate downstream genes
    • Horsthemke B, Nazlican H, Hüsing J, et al. Somatic mosaicism for maternal uniparental disomy 15 in a girl with Prader-Willi syndrome: confirmation by cell cloning and identification of candidate downstream genes. Human Molecular Genetics. 2003;12:2723-2732.
    • (2003) Human Molecular Genetics , vol.12 , pp. 2723-2732
    • Horsthemke, B.1    Nazlican, H.2    Hüsing, J.3
  • 39
    • 16944363776 scopus 로고    scopus 로고
    • The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region
    • Jay P, Rougeulle C, Massacrier A, et al. The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region. Nature Genetics. 1997;17:357-361.
    • (1997) Nature Genetics , vol.17 , pp. 357-361
    • Jay, P.1    Rougeulle, C.2    Massacrier, A.3
  • 40
    • 0033016617 scopus 로고    scopus 로고
    • The ancestral gene for transcribed, lowcopy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking that is deficient in mice with neuromuscular and spermiogenic abnormalities
    • Ji Y, Walkowicz M, Buiting K, et al. The ancestral gene for transcribed, lowcopy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking that is deficient in mice with neuromuscular and spermiogenic abnormalities. Human Molecular Genetics. 1999;8:533-542.
    • (1999) Human Molecular Genetics , vol.8 , pp. 533-542
    • Ji, Y.1    Walkowicz, M.2    Buiting, K.3
  • 41
    • 0032896919 scopus 로고    scopus 로고
    • A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region
    • Jong M T C, Gray TA, Ji Y, et al. A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region. Human Molecular Genetics. 1999;8:783-793.
    • (1999) Human Molecular Genetics , vol.8 , pp. 783-793
    • Jong, M.T.C.1    Gray, T.A.2    Ji, Y.3
  • 42
    • 0031012849 scopus 로고    scopus 로고
    • UBE3A/E6-AP mutations cause Angelman syndrome
    • Kishino T, Lalande M, Wagstaff J. UBE3A/E6-AP mutations cause Angelman syndrome. Nature Genetics. 1997;15:70-73.
    • (1997) Nature Genetics , vol.15 , pp. 70-73
    • Kishino, T.1    Lalande, M.2    Wagstaff, J.3
  • 43
    • 0025292716 scopus 로고
    • Angelman syndrome: Three molecular classes identified with chromosome 15q11q13-specific DNA markers
    • Knoll JH, Nicholls RD, Magenis RE, Glatt K. Angelman syndrome: Three molecular classes identified with chromosome 15q11q13-specific DNA markers. American Journal of Human Genetics. 1990;47:149-155.
    • (1990) American Journal of Human Genetics , vol.47 , pp. 149-155
    • Knoll, J.H.1    Nicholls, R.D.2    Magenis, R.E.3    Glatt, K.4
  • 45
    • 0026920425 scopus 로고
    • Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis
    • Kuwano A, Mutirangura A, Dittrich B, et al. Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis. Human Molecular Genetics. 1992;1:417-425.
    • (1992) Human Molecular Genetics , vol.1 , pp. 417-425
    • Kuwano, A.1    Mutirangura, A.2    Dittrich, B.3
  • 47
    • 0033852735 scopus 로고    scopus 로고
    • Expression and imprinting of MAGEL2 suggest a role in Prader-Willi syndrome and the homologous murine imprinting phenotype
    • Lee S, Kozlov S, Hernandez L, et al. Expression and imprinting of MAGEL2 suggest a role in Prader-Willi syndrome and the homologous murine imprinting phenotype. Human Molecular Genetics. 2000;9:1813-1819.
    • (2000) Human Molecular Genetics , vol.9 , pp. 1813-1819
    • Lee, S.1    Kozlov, S.2    Hernandez, L.3
  • 48
    • 0030773594 scopus 로고    scopus 로고
    • The necdin gene is deleted in Prader-Willi syndrome and is imprinted in human and mouse
    • MacDonald H, Wevrick, R. The necdin gene is deleted in Prader-Willi syndrome and is imprinted in human and mouse. Human Molecular Genetics. 1997;11:1873-1878.
    • (1997) Human Molecular Genetics , vol.11 , pp. 1873-1878
    • MacDonald, H.1    Wevrick, R.2
  • 49
    • 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. Nature Genetics. 1997;5:74-77.
    • (1997) Nature Genetics , vol.5 , pp. 74-77
    • Matsuura, T.1    Sutcliffe, J.S.2    Fang, P.3
  • 50
    • 0035039122 scopus 로고    scopus 로고
    • A novel maternally expressed gene, ATP10C encodes a putative aminophospholipid translocase associated with Angelman syndrome
    • Meguro M, Kashiwagi A, Mitsuya K, et al. A novel maternally expressed gene, ATP10C encodes a putative aminophospholipid translocase associated with Angelman syndrome. Nature Genetics. 2001;28:19-20.
    • (2001) Nature Genetics , vol.28 , pp. 19-20
    • Meguro, M.1    Kashiwagi, A.2    Mitsuya, K.3
  • 51
    • 0034642301 scopus 로고    scopus 로고
    • Disruption of the mouse Necdin gene results in hypothalamic and behavioral alteration reminiscent of the human Prader-Willi syndrome
    • Muscatelli F, Abrous DN, Massacrier A, et al. Disruption of the mouse Necdin gene results in hypothalamic and behavioral alteration reminiscent of the human Prader-Willi syndrome. Human Molecular Genetics. 2000;9:3101-3110.
    • (2000) Human Molecular Genetics , vol.9 , pp. 3101-3110
    • Muscatelli, F.1    Abrous, D.N.2    Massacrier, A.3
  • 52
    • 0027787530 scopus 로고
    • A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene
    • Mutirangura A, Jayakumar A, Sutcliffe JS, et al. A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene. Genomics. 1993;18:546-552.
    • (1993) Genomics , vol.18 , pp. 546-552
    • Mutirangura, A.1    Jayakumar, A.2    Sutcliffe, J.S.3
  • 53
    • 0024440608 scopus 로고
    • Genetic imprinting suggested by maternal uniparental heterodisomy in nondeletion Prader-Willi syndrome
    • Nicholls RD, Knoll JH, Butler MG, Karam S, Lalande M. Genetic imprinting suggested by maternal uniparental heterodisomy in nondeletion Prader-Willi syndrome. Nature. 1989;342:281-285.
    • (1989) Nature , vol.342 , pp. 281-285
    • Nicholls, R.D.1    Knoll, J.H.2    Butler, M.G.3    Karam, S.4    Lalande, M.5
  • 54
    • 0027026716 scopus 로고
    • Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region
    • Özcelik T, Leff S, Robinson W, et al. Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region. Nature Genetics. 1992;2:265-269.
    • (1992) Nature Genetics , vol.2 , pp. 265-269
    • Özcelik, T.1    Leff, S.2    Robinson, W.3
  • 57
    • 0037335439 scopus 로고    scopus 로고
    • Absence of Ndn, encoding the Prader-Willi syndrome-deleted gene necdin, results in congenital deficiency of central respiratory drive in neonatal mice
    • Ren J, Lee S, Pagliardini S, et al. Absence of Ndn, encoding the Prader-Willi syndrome-deleted gene necdin, results in congenital deficiency of central respiratory drive in neonatal mice. Journal of Neuroscience. 2003;23:1569-1573.
    • (2003) Journal of Neuroscience , vol.23 , pp. 1569-1573
    • Ren, J.1    Lee, S.2    Pagliardini, S.3
  • 58
    • 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. Journal of Medical Genetics. 1998;35:130-136.
    • (1998) Journal of Medical Genetics , vol.35 , pp. 130-136
    • Robinson, W.P.1    Dutly, F.2    Nicholls, R.D.3
  • 59
    • 0027241262 scopus 로고
    • Deletion breakpoints associated with the Prader-Willi and Angelman syndromes (15q11-q13) are not sites of high homologous recombination
    • Robinson WP, Spiegel R, Schinzel AA. Deletion breakpoints associated with the Prader-Willi and Angelman syndromes (15q11-q13) are not sites of high homologous recombination. Human Genetics. 1993;91:181-184.
    • (1993) Human Genetics , vol.91 , pp. 181-184
    • Robinson, W.P.1    Spiegel, R.2    Schinzel, A.A.3
  • 60
    • 0035509699 scopus 로고    scopus 로고
    • The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A
    • Runte M, Hüttenhofer A, Groß S, Kiefmann M, Horsthemke B, Buiting K. The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A. Human Molecular Genetics. 2001;10:2687-2700.
    • (2001) Human Molecular Genetics , vol.10 , pp. 2687-2700
    • Runte, M.1    Hüttenhofer, A.2    Groß, S.3    Kiefmann, M.4    Horsthemke, B.5    Buiting, K.6
  • 61
    • 16044365355 scopus 로고    scopus 로고
    • Minimal definition of the imprinting center and fixation of a chromosome 15q11-q13 epigenotype by imprinting mutations
    • Saitoh S, Buiting K, Rogan PK, et al. Minimal definition of the imprinting center and fixation of a chromosome 15q11-q13 epigenotype by imprinting mutations. Proceedings of the National Academy of Science USA. 1996;93:7811-7815.
    • (1996) Proceedings of the National Academy of Science USA , vol.93 , pp. 7811-7815
    • Saitoh, S.1    Buiting, K.2    Rogan, P.K.3
  • 62
    • 0027207188 scopus 로고
    • Secretoneurin releases dopamine from rat striatal slices: A biological effect of a peptide derived from secretograninII (chromograninC)
    • Saria A, Troger J, Kirchmair R, Fischer-Colbrie R, Hogue-Angeletti R, Winkler H. Secretoneurin releases dopamine from rat striatal slices: a biological effect of a peptide derived from secretograninII (chromograninC). Neuroscience. 1993;54:1-4.
    • (1993) Neuroscience , vol.54 , pp. 1-4
    • Saria, A.1    Troger, J.2    Kirchmair, R.3    Fischer-Colbrie, R.4    Hogue-Angeletti, R.5    Winkler, H.6
  • 65
    • 0030922598 scopus 로고    scopus 로고
    • Hypopigmentation in the Prader-Willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele
    • Spritz RA, Bailin T, Nicholls RD, et al. Hypopigmentation in the Prader-Willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele. American Journal of Medical Genetics. 1997;71:57-62.
    • (1997) American Journal of Medical Genetics , vol.71 , pp. 57-62
    • Spritz, R.A.1    Bailin, T.2    Nicholls, R.D.3
  • 66
    • 0028133293 scopus 로고
    • Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region
    • Sutcliffe JS, Nakao M, Christian S, et al. Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Nature Genetics. 1994;8:52-58.
    • (1994) Nature Genetics , vol.8 , pp. 52-58
    • Sutcliffe, J.S.1    Nakao, M.2    Christian, S.3
  • 68
    • 0032963667 scopus 로고    scopus 로고
    • Necdin-deficient mice do not show lethality or the obesity and infertility of Prader-Willi syndrome
    • Tsai TF, Armstrong D, Beaudet AL. Necdin-deficient mice do not show lethality or the obesity and infertility of Prader-Willi syndrome. Nature Genetics. 1999;22:15-16.
    • (1999) Nature Genetics , vol.22 , pp. 15-16
    • Tsai, T.F.1    Armstrong, D.2    Beaudet, A.L.3
  • 69
    • 0032837539 scopus 로고    scopus 로고
    • Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome
    • Tsai TF, Jiang Y, Bressler J, Armstrong D, Beaudet AL. Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome. Human Molecular Genetics. 1999;8:1357-1364.
    • (1999) Human Molecular Genetics , vol.8 , pp. 1357-1364
    • Tsai, T.F.1    Jiang, Y.2    Bressler, J.3    Armstrong, D.4    Beaudet, A.L.5
  • 70
    • 0035798931 scopus 로고    scopus 로고
    • Brain dopamine and obesity
    • Wang GJ, Volkow ND, Logan J, et al. Brain dopamine and obesity. Lancet. 2001;357:354-357.
    • (2001) Lancet , vol.357 , pp. 354-357
    • Wang, G.J.1    Volkow, N.D.2    Logan, J.3
  • 71
    • 0028128302 scopus 로고
    • Inv dup (15) supernumerary marker chromosomes
    • Webb T. Inv dup (15) supernumerary marker chromosomes. Journal of Medical Genetics. 1994;31:585-594.
    • (1994) Journal of Medical Genetics , vol.31 , pp. 585-594
    • Webb, T.1
  • 72
    • 0028124726 scopus 로고
    • Identification of a novel paternally expressed gene in the Prader-Willi syndrome region
    • Wevrick R, Kerns JA, Francke U. Identification of a novel paternally expressed gene in the Prader-Willi syndrome region. Human Molecular Genetics. 1994;3:1877-1882.
    • (1994) Human Molecular Genetics , vol.3 , pp. 1877-1882
    • Wevrick, R.1    Kerns, J.A.2    Francke, U.3
  • 73
    • 84892345919 scopus 로고    scopus 로고
    • A behavioral and correlated neurochemical mouse phenotype related to the absence of Snrpn, a locus associated with Prader-Willi syndrome
    • White RA, Vorontosova E, Chen R, et al. A behavioral and correlated neurochemical mouse phenotype related to the absence of Snrpn, a locus associated with Prader-Willi syndrome. American Journal of Human Genetics Supplement. 2002;71:467.
    • (2002) American Journal of Human Genetics Supplement , vol.71 , pp. 467
    • White, R.A.1    Vorontosova, E.2    Chen, R.3
  • 74
    • 0035253445 scopus 로고    scopus 로고
    • A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15
    • Wirth J, Back E, Hüttenhofer A, et al. A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15. Human Molecular Genetics. 2001;10:201-210.
    • (2001) Human Molecular Genetics , vol.10 , pp. 201-210
    • Wirth, J.1    Back, E.2    Hüttenhofer, A.3
  • 75
    • 0037013706 scopus 로고    scopus 로고
    • "Nonhedonic" food motivation in humans involves dopamine in the dorsal striatum and methylphenidate amplifies this effect
    • Volkow ND, Wang GJ, Fowler JS, et al. "Nonhedonic" food motivation in humans involves dopamine in the dorsal striatum and methylphenidate amplifies this effect. Synapse. 2002;44:175-180.
    • (2002) Synapse , vol.44 , pp. 175-180
    • Volkow, N.D.1    Wang, G.J.2    Fowler, J.S.3
  • 77
    • 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. Nature Genetics. 1998;19:25-31.
    • (1998) Nature Genetics , vol.19 , pp. 25-31
    • Yang, T.1    Adamson, T.E.2    Resnick, J.L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.