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Volumn 129, Issue 4, 2001, Pages 367-374

Methylation, cytogenetic and FISH tests in the molecular diagnosis of Prader-Willi and Angelman syndromes;Diagnóstico molecular de los síndromes de Prader-Willi y de Angelman: Análisis de metilación, citogenética y FISH

Author keywords

Angelman syndrome Cytogenetics; Mutation; Prader Willi syndrome

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; DNA METHYLATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETICS; HAPPY PUPPET SYNDROME; HUMAN; INFANT; KARYOTYPING; MALE; MUTATION; POLYMERASE CHAIN REACTION; PRADER WILLI SYNDROME; PRESCHOOL CHILD;

EID: 0035318985     PISSN: 00349887     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (9)

References (36)
  • 1
    • 0024440608 scopus 로고
    • Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome
    • NICHOLLS RD, KNOLL JHM, BUTLER MG, KARAM S, LALANDE M. Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome. Nature 1989; 342: 281-5.
    • (1989) Nature , vol.342 , pp. 281-285
    • Nicholls, R.D.1    Knoll, J.H.M.2    Butler, M.G.3    Karam, S.4    Lalande, M.5
  • 2
    • 0026595355 scopus 로고
    • Molecular diagnosis of the Prader Willi and Angelman syndromes by detection of parent-of-origin specific DMA methylation in 15q11-13
    • DITTRICH B, ROBINSON WP, KNOBLAUCH H, BUITING K, GILLESON-KAESBACH G, HORSTHEMKE. B. Molecular diagnosis of the Prader Willi and Angelman syndromes by detection of parent-of-origin specific DMA methylation in 15q11-13. Hum Genet 1992; 90; 313-5.
    • (1992) Hum Genet , vol.90 , pp. 313-315
    • Dittrich, B.1    Robinson, W.P.2    Knoblauch, H.3    Buiting, K.4    Gilleson-Kaesbach, G.5    Horsthemke, B.6
  • 3
    • 0025033807 scopus 로고
    • Prevalence study of Prader-Willi syndrome in North Dakota
    • BURD L, VESELY B, MARTSOLF J, KERBESHIAN J. Prevalence study of Prader-Willi syndrome in North Dakota. Am J Med Genet. 1990; 37: 97-9.
    • (1990) Am J Med Genet , vol.37 , pp. 97-99
    • Burd, L.1    Vesely, B.2    Martsolf, J.3    Kerbeshian, J.4
  • 5
    • 0025181455 scopus 로고
    • Prader-Willi syndrome: Current understanding of cause and diagnosis
    • BUTLER MG. Prader-Willi syndrome: Current understanding of cause and diagnosis. Am J Med Genet 1990; 35:319-32.
    • (1990) Am J Med Genet , vol.35 , pp. 319-332
    • Butler, M.G.1
  • 7
    • 84995191751 scopus 로고
    • "Puppet" children: A report on three cases
    • ANGELMAN H, "Puppet" children: a report on three cases. Dev Med Child Neurol 1965; 7: 681-8.
    • (1965) Dev Med Child Neurol , vol.7 , pp. 681-688
    • Angelman, H.1
  • 8
    • 0024619007 scopus 로고
    • Angelman and Prader-Willi Syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion
    • KNOLL JHM, NICHOLS RD, MAGENIS RE, GRAHAM JM, LALANDE M, LATT SA. Angelman and Prader-Willi Syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion. Am J Med Genet 1989; 32: 285-90.
    • (1989) Am J Med Genet , vol.32 , pp. 285-290
    • Knoll, J.H.M.1    Nichols, R.D.2    Magenis, R.E.3    Graham, J.M.4    Lalande, M.5    Latt, S.A.6
  • 11
    • 0034677204 scopus 로고    scopus 로고
    • Mosaicism in Prader- Willi syndrome
    • NICHOLLS RD. Mosaicism in Prader-Willi syndrome. Am J Med Genet 2000; 90:175-6.
    • (2000) Am J Med Genet , vol.90 , pp. 175-176
    • Nicholls, R.D.1
  • 12
    • 0027473988 scopus 로고
    • Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region(15q11-q13): Molecular diagnosis and mechanism on uniparental disomy
    • MUTIRANGURA A, GREENBERG F, BUTLER MG, MALCOLM S, NICHOLLS RD, CHAKRAVARTI A, ET AL. Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region(15q11-q13): Molecular diagnosis and mechanism on uniparental disomy. Hum Mol Genet 1993; 2:143-51.
    • (1993) Hum Mol Genet , vol.2 , pp. 143-151
    • Mutirangura, A.1    Greenberg, F.2    Butler, M.G.3    Malcolm, S.4    Nicholls, R.D.5    Chakravarti, A.6
  • 13
    • 0027290868 scopus 로고
    • Genomic imprinting and candidate genes in Prader-Willi and Angelman syndromes
    • NICHOLLS RD. Genomic imprinting and candidate genes in Prader-Willi and Angelman syndromes. Curr Opin Genet Den 1993; 3:445-56.
    • (1993) Curr Opin Genet Den , vol.3 , pp. 445-456
    • Nicholls, R.D.1
  • 14
    • 0032076307 scopus 로고    scopus 로고
    • Imprinting in Prader-Willi and Angelman syndromes
    • NICHOLLS RD, SAITOH S, HORSTHEMKE B. Imprinting in Prader-Willi and Angelman syndromes. Trends Genet 1998;14:194-200.
    • (1998) Trends Genet , vol.14 , pp. 194-200
    • Nicholls, R.D.1    Saitoh, S.2    Horsthemke, B.3
  • 16
    • 0027787530 scopus 로고
    • A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and redefined localization of the SNRPN gene
    • MUTIRANGURA A, JAYAKUMAR A, SUTCLIFFE JS, NAKAO M, MC KINNEY MJ, BUITING K, ET AL. A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and redefined localization of the SNRPN gene, Genomics 1993; 18: 546-52.
    • (1993) Genomics , vol.18 , pp. 546-552
    • Mutirangura, A.1    Jayakumar, A.2    Sutcliffe, J.S.3    Nakao, M.4    Mc Kinney, M.J.5    Buiting, K.6
  • 18
    • 0031012076 scopus 로고    scopus 로고
    • FISH characterization of small supernumerary marker chromosomes in two Prader - Willi patients
    • BETTIO D, RIZZI N, GIARDINO D, GURRIERI F, SILVESTRI G, GRUGNI G, ET AL. FISH characterization of small supernumerary marker chromosomes in two Prader - Willi patients. Am J Genet 1997; 68: 99-104.
    • (1997) Am J Genet , vol.68 , pp. 99-104
    • Bettio, D.1    Rizzi, N.2    Giardino, D.3    Gurrieri, F.4    Silvestri, G.5    Grugni, G.6
  • 19
    • 0030665282 scopus 로고    scopus 로고
    • Prader-Willi and Angelman syndromes: Diagnosis with a bisulfite-treated methylation-specific PCR method
    • KOSAKI K, MC GINNIS MJ, VERAKSA AN, Mc GINNIS WJ, JONES KL. Prader-Willi and Angelman syndromes: diagnosis with a bisulfite-treated methylation-specific PCR method. Am J Med Genet 1997; 73:308-13.
    • (1997) Am J Med Genet , vol.73 , pp. 308-313
    • Kosaki, K.1    Mc Ginnis, M.J.2    Veraksa, A.N.3    Mc Ginnis, W.J.4    Jones, K.L.5
  • 21
    • 0031726365 scopus 로고    scopus 로고
    • Methylation PCR analysis of Prader-Willi syndrome, Angelman syndrome, and control subjects
    • MURALIDHAR B, BUTLER M. Methylation PCR analysis of Prader-Willi syndrome, Angelman syndrome, and control subjects, Am J Med Genet 1998; 80:253-65.
    • (1998) Am J Med Genet , vol.80 , pp. 253-265
    • Muralidhar, B.1    Butler, M.2
  • 22
    • 0031799831 scopus 로고    scopus 로고
    • A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes
    • CHOTAI KA, PAYNE SJ. A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes, J Med Genet 1998; 35: 472-5.
    • (1998) J Med Genet , vol.35 , pp. 472-475
    • Chotai, K.A.1    Payne, S.J.2
  • 23
    • 0032248495 scopus 로고    scopus 로고
    • Análisis molecular directo de mutaciones en el gen FMR-len pacientes con síndrome Xq frágil y sus familias
    • ALLIENDE MA, URZÚA B, VALIENTE A, CUROTTO B, CORTÉS F, ROJAS C. Análisis molecular directo de mutaciones en el gen FMR-len pacientes con síndrome Xq frágil y sus familias. Rev Méd Chil 1998; 126:1435-46.
    • (1998) Rev Méd Chil , vol.126 , pp. 1435-1446
    • Alliende, M.A.1    Urzúa, B.2    Valiente, A.3    Curotto, B.4    Cortés, F.5    Rojas, C.6
  • 24
    • 0029843950 scopus 로고    scopus 로고
    • Methylation-specific PCR: A novel PCR assay for methylation status of CpG islands
    • HERMAN J, GRAFF J, MYÖHÄGEN S, NEKIN B, BANGLIN S. Methylation-specific PCR: a novel PCR assay for methylation status of CpG islands. Proc Natl Acad Sci USA 1996, 93:9821-6.
    • (1996) Proc Natl Acad Sci USA , vol.93 , pp. 9821-9826
    • Herman, J.1    Graff, J.2    Myöhägen, S.3    Nekin, B.4    Banglin, S.5
  • 26
    • 0346586948 scopus 로고
    • Citogenética clínica: Métodos de laboratorio
    • ALLIENDE MA, CUROTTO B. Citogenética clínica: métodos de laboratorio. Rev Chil Ped 1993; 64: 9-12.
    • (1993) Rev Chil Ped , vol.64 , pp. 9-12
    • Alliende, M.A.1    Curotto, B.2
  • 28
    • 0031015938 scopus 로고    scopus 로고
    • Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15
    • CASSIDY SB, FORSYTHE M, HEEGER S, NICHOLLS RD, SCHORK N, BENN P, SCHAWRTZ S. Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15. Am J Med Genet 1997; 68:433-40.
    • (1997) Am J Med Genet , vol.68 , pp. 433-440
    • Cassidy, S.B.1    Forsythe, M.2    Heeger, S.3    Nicholls, R.D.4    Schork, N.5    Benn, P.6    Schawrtz, S.7
  • 29
    • 0034686464 scopus 로고    scopus 로고
    • Paternal UDP15: Further genetic and clinical studies in four Angelman syndrome patients
    • FRIDMAN C, VARELA MC, KOK F, DIAMENT A, KOIFFMANN CP. Paternal UDP15: further genetic and clinical studies in four Angelman syndrome patients. Am J Med Genet 2000; 92:322-7.
    • (2000) Am J Med Genet , vol.92 , pp. 322-327
    • Fridman, C.1    Varela, M.C.2    Kok, F.3    Diament, A.4    Koiffmann, C.P.5
  • 30
    • 0034640677 scopus 로고    scopus 로고
    • Third Prader-Willi syndrome phenotype due to maternal uniparental disomy 15 with mosaic trisomy 15
    • OLANDER E, STAMBERG J, STEIMBERG L, WULLFSBERG EA. Third Prader-Willi syndrome phenotype due to maternal uniparental disomy 15 with mosaic trisomy 15. Am J Med Genet 2000; 93: 215-8.
    • (2000) Am J Med Genet , vol.93 , pp. 215-218
    • Olander, E.1    Stamberg, J.2    Steimberg, L.3    Wullfsberg, E.A.4
  • 31
    • 0033651946 scopus 로고    scopus 로고
    • Prader Willi and Angelman Syndromes: Sister imprinted disorders
    • CASSIDY S, DYKENS E, WILLIAMS C. Prader Willi and Angelman Syndromes: Sister imprinted disorders. Am J Med Genet 2000; 97:136-46
    • (2000) Am J Med Genet , vol.97 , pp. 136-146
    • Cassidy, S.1    Dykens, E.2    Williams, C.3
  • 33
    • 0029966577 scopus 로고    scopus 로고
    • The impact of imprinting: Prader-Willi syndrome resulting from chromosome translocation, recombination, and nondisjuntion
    • TOTH-FEJEL SE, OLSON S, GUNTER K, QUAN F, WOLFORD J, POPOVICH BW, MAGENIS RE. The impact of imprinting: Prader-Willi syndrome resulting from chromosome translocation, recombination, and nondisjuntion. Am J Hum Genet 1996; 58:1008-16.
    • (1996) Am J Hum Genet , vol.58 , pp. 1008-1016
    • Toth-Fejel, S.E.1    Olson, S.2    Gunter, K.3    Quan, F.4    Wolford, J.5    Popovich, B.W.6    Magenis, R.E.7
  • 34
    • 0030977970 scopus 로고    scopus 로고
    • Familiar translocation t(Y;15)(q12;p11) and de Novo Deletion of the Prader-Willi Syndrome (PWS) Critical Region on 15q11-q13
    • ELIEZ S, MORRIS M, DAHUON-HADORN S, DELOZIER-BLANCHET D, GOS A, SIZONENKO P, ANTONARAKIS. Familiar translocation t(Y;15)(q12;p11) and De Novo Deletion of the Prader-Willi Syndrome (PWS) Critical Region on 15q11-q13. Am J Med Genet 1997 70: 222-8.
    • (1997) Am J Med Genet , vol.70 , pp. 222-228
    • Eliez, S.1    Morris, M.2    Dahuon-Hadorn, S.3    Delozier-Blanchet, D.4    Gos, A.5    Sizonenko, P.6    Antonarakis7
  • 35
    • 0032581119 scopus 로고    scopus 로고
    • Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2)
    • PARK JP, MOESCHLER JB, HANI VH, HAWK AB, BELLONI DR, NOLL WW, ET AL. Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2). Am J Med Genet 1998; 78: 134-9.
    • (1998) Am J Med Genet , vol.78 , pp. 134-139
    • Park, J.P.1    Moeschler, J.B.2    Hani, V.H.3    Hawk, A.B.4    Belloni, D.R.5    Noll, W.W.6
  • 36
    • 0033070151 scopus 로고    scopus 로고
    • Molecular mechanisms of Angelman syndrome in two large families involves an imprinting mutation
    • OHTA T, BUITING K, KOKKONEN H, MCCANDLESS S, HEEGER S, LEISTI H, ET AL. Molecular mechanisms of Angelman syndrome in two large families involves an imprinting mutation. Am J Hum Genet 1999; 64:385-96.
    • (1999) Am J Hum Genet , vol.64 , pp. 385-396
    • Ohta, T.1    Buiting, K.2    Kokkonen, H.3    Mccandless, S.4    Heeger, S.5    Leisti, H.6


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