메뉴 건너뛰기




Volumn 97, Issue 6, 1996, Pages 784-793

Routine screening for microdeletions by FISH in 77 patients suspected of having Prader-Willi or Angelman syndromes using YAC clone 273A2 (D15S10)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

EID: 0029874866     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02346190     Document Type: Article
Times cited : (17)

References (45)
  • 1
    • 84995191751 scopus 로고
    • Puppet children: A report on three cases
    • Angelman H (1965) Puppet children: a report on three cases. Dev Med Child Neurol 7: 681-683
    • (1965) Dev Med Child Neurol , vol.7 , pp. 681-683
    • Angelman, H.1
  • 4
    • 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, Dittrich B, Schwartz S, Nicholls RD, Horsthemke B (1995) Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nat Genet 9: 395-400
    • (1995) Nat Genet , vol.9 , pp. 395-400
    • Buiting, K.1    Saitoh, S.2    Gross, S.3    Dittrich, B.4    Schwartz, S.5    Nicholls, R.D.6    Horsthemke, B.7
  • 5
    • 0025181455 scopus 로고
    • Prader-Willi syndrome: Current understanding of cause and diagnosis
    • Butler MG (1990) Prader-Willi syndrome: current understanding of cause and diagnosis. Am J Med Genet 35: 319-332
    • (1990) Am J Med Genet , vol.35 , pp. 319-332
    • Butler, M.G.1
  • 6
    • 0028920381 scopus 로고
    • High resolution chromosome analysis and fluorescence in situ hybridization in patients referred for Prader-Willi or Angelman syndrome
    • Butler MG (1995) High resolution chromosome analysis and fluorescence in situ hybridization in patients referred for Prader-Willi or Angelman syndrome (letter). Am J Med Genet 56: 420-422
    • (1995) Am J Med Genet , vol.56 , pp. 420-422
    • Butler, M.G.1
  • 8
    • 0023489469 scopus 로고
    • Orthogonal-field-alternation gel electrophoresis
    • Wu R (ed) Academic Press, San Diego
    • Carle GF, Olson MV (1987) Orthogonal-field-alternation gel electrophoresis. In: Wu R (ed) Methods in enzymology. Academic Press, San Diego, pp 468-482
    • (1987) Methods in Enzymology , pp. 468-482
    • Carle, G.F.1    Olson, M.V.2
  • 10
    • 0027474136 scopus 로고
    • Clinical research on Angelman syndrome in the United Kingdom: Observations on 82 affected individuals
    • Clayton Smith J (1993) Clinical research on Angelman syndrome in the United Kingdom: observations on 82 affected individuals. Am J Med Genet 46: 12-15
    • (1993) Am J Med Genet , vol.46 , pp. 12-15
    • Clayton Smith, J.1
  • 11
    • 0027994268 scopus 로고
    • Comparison of high resolution chromosome banding and fluorescence in situ hybridization (FISH) for the laboratory evaluation of Prader-Willi syndrome and Angelman syndrome
    • Delach JA, Rosengren SS, Kaplan L, Greenstein RM, Cassidy SB, Benn PA (1994) Comparison of high resolution chromosome banding and fluorescence in situ hybridization (FISH) for the laboratory evaluation of Prader-Willi syndrome and Angelman syndrome. Am J Med Genet 52: 85-91
    • (1994) Am J Med Genet , vol.52 , pp. 85-91
    • Delach, J.A.1    Rosengren, S.S.2    Kaplan, L.3    Greenstein, R.M.4    Cassidy, S.B.5    Benn, P.A.6
  • 12
    • 0026595355 scopus 로고
    • Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13
    • Dittrich B, Robinson WP, Knoblauch H, Buiting K, Schmidt K, Gillessen Kaesbach G, Horsthemke B (1992) Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13. Hum Genet 90: 313-315
    • (1992) Hum Genet , vol.90 , pp. 313-315
    • Dittrich, B.1    Robinson, W.P.2    Knoblauch, H.3    Buiting, K.4    Schmidt, K.5    Gillessen Kaesbach, G.6    Horsthemke, B.7
  • 13
    • 0027741188 scopus 로고
    • Characterization of a methylation imprint in the Prader-Willi syndrome chromosome region
    • Dittrich B, Buiting K, Gross S, Horsthemke B (1993) Characterization of a methylation imprint in the Prader-Willi syndrome chromosome region. Hum Mol Genet 2: 1995-1999
    • (1993) Hum Mol Genet , vol.2 , pp. 1995-1999
    • Dittrich, B.1    Buiting, K.2    Gross, S.3    Horsthemke, B.4
  • 14
    • 0026700732 scopus 로고
    • A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes
    • Driscoll DJ, Waters MF, Williams CA, Zori RT, Glenn CC, Avidano KM, Nicholls RD (1992) A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes. Genomics 13: 917-924
    • (1992) Genomics , vol.13 , pp. 917-924
    • Driscoll, D.J.1    Waters, M.F.2    Williams, C.A.3    Zori, R.T.4    Glenn, C.C.5    Avidano, K.M.6    Nicholls, R.D.7
  • 17
    • 0025360106 scopus 로고
    • Genomic imprinting: Review and relevance to human diseases
    • Hall JG (1990) Genomic imprinting: review and relevance to human diseases. Am J Hum Genet 46: 857-873
    • (1990) Am J Hum Genet , vol.46 , pp. 857-873
    • Hall, J.G.1
  • 20
    • 0026752006 scopus 로고
    • Differentiated recurrence risk estimations in the Prader-Willi syndrome
    • Kennerknecht I (1992) Differentiated recurrence risk estimations in the Prader-Willi syndrome. Clin Genet 41: 303-308
    • (1992) Clin Genet , vol.41 , pp. 303-308
    • Kennerknecht, I.1
  • 21
    • 0024619007 scopus 로고
    • Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion
    • Knoll JH, Nicholls RD, Magenis RE, Graham JM Jr, Lalande M, Latt SA (1989) Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion. Am J Med Genet 32: 285-290
    • (1989) Am J Med Genet , vol.32 , pp. 285-290
    • Knoll, J.H.1    Nicholls, R.D.2    Magenis, R.E.3    Graham Jr., J.M.4    Lalande, M.5    Latt, S.A.6
  • 23
    • 0000477103 scopus 로고
    • Enzymatic synthesis of biotin-labeled polynucleotides: Novel nucleic acid affinity probes
    • Langer PR, Waldrop AA, Ward DC (1981) Enzymatic synthesis of biotin-labeled polynucleotides: novel nucleic acid affinity probes. Proc Natl Acad Sci USA 78: 6633-6637
    • (1981) Proc Natl Acad Sci USA , vol.78 , pp. 6633-6637
    • Langer, P.R.1    Waldrop, A.A.2    Ward, D.C.3
  • 25
    • 0026725180 scopus 로고
    • Fluorescence in situ hybridization of YAC clones after Alu-PCR amplification
    • Lengauer C, Green ED, Cremer T (1992) Fluorescence in situ hybridization of YAC clones after Alu-PCR amplification. Genomics 13: 826-828
    • (1992) Genomics , vol.13 , pp. 826-828
    • Lengauer, C.1    Green, E.D.2    Cremer, T.3
  • 26
    • 0000579784 scopus 로고
    • Chromosome analysis by nonisotopic in situ hybridization
    • Rooney DA, Czepulkowski BH (eds) IRL Press, Oxford New York Tokyo
    • Lichter P, Cremer T (1992) Chromosome analysis by nonisotopic in situ hybridization. In: Rooney DA, Czepulkowski BH (eds) Human cytogenetics, 2nd edn. IRL Press, Oxford New York Tokyo, pp 157-192
    • (1992) Human Cytogenetics, 2nd Edn. , pp. 157-192
    • Lichter, P.1    Cremer, T.2
  • 27
    • 0028252187 scopus 로고
    • Molecular analysis of chromosome aberrations. in situ hybridization
    • Gosden JR (ed) Humana Press, Totowa, NJ
    • Lichter P, Ried T (1994) Molecular analysis of chromosome aberrations. In situ hybridization. In: Gosden JR (ed) Chromosome analysis protocols. Humana Press, Totowa, NJ pp 449-478
    • (1994) Chromosome Analysis Protocols , pp. 449-478
    • Lichter, P.1    Ried, T.2
  • 30
    • 0027473988 scopus 로고
    • Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11q13): Molecular diagnosis and mechanism of uniparental disomy
    • Mutirangura A, Greenberg F, Butler MG, Malcolm S, Nicholls RD, Chakravarti A, Ledbetter DH (1993) Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11q13): molecular diagnosis and mechanism of uniparental disomy. Hum Mol Genet 2: 143-151
    • (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    Ledbetter, D.H.7
  • 31
    • 0027290868 scopus 로고
    • Genomic imprinting and candidate genes in the Prader-Willi and Angelman syndromes
    • erratum appeared in Curr Opin Genet Dev 3: 802.
    • Nicholls RD (1993) Genomic imprinting and candidate genes in the Prader-Willi and Angelman syndromes [erratum appeared in Curr Opin Genet Dev 3: 802]. Curr Opin Genet Dev 3: 445-456
    • (1993) Curr Opin Genet Dev , vol.3 , pp. 445-456
    • Nicholls, R.D.1
  • 33
    • 0000927260 scopus 로고
    • Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchismus, und Oligophrenie nach myotonieartigem Zustand im Neugeborenenalter
    • Prader A, Labhart A, Willi H (1956) Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchismus, und Oligophrenie nach myotonieartigem Zustand im Neugeborenenalter. Schweiz Med Wochenschr 86: 1260-1261
    • (1956) Schweiz Med Wochenschr , vol.86 , pp. 1260-1261
    • Prader, A.1    Labhart, A.2    Willi, H.3
  • 37
    • 0027509686 scopus 로고
    • Fluorescence in-situ hybridisation and molecular studies used in the characterisation of a Robertsonian translocation (13q15q) in Prader-Willi syndrome
    • Smith A, Robson L, Neumann A, Mulcahy M, Chabros V, Deng ZM, Woodage T, Trent RJ (1993) Fluorescence in-situ hybridisation and molecular studies used in the characterisation of a Robertsonian translocation (13q15q) in Prader-Willi syndrome. Clin Genet 43: 5-8
    • (1993) Clin Genet , vol.43 , pp. 5-8
    • Smith, A.1    Robson, L.2    Neumann, A.3    Mulcahy, M.4    Chabros, V.5    Deng, Z.M.6    Woodage, T.7    Trent, R.J.8
  • 38
    • 15844376760 scopus 로고
    • Nutritional management
    • Greenswag LR, Alexander RC (eds) Springer, Berlin Heidelberg New York
    • Stadler DD (1988) Nutritional management. In: Greenswag LR, Alexander RC (eds) Management of Prader-Willi syndrome. Springer, Berlin Heidelberg New York, pp 76-98
    • (1988) Management of Prader-Willi Syndrome , pp. 76-98
    • Stadler, D.D.1
  • 42
    • 0027418617 scopus 로고
    • Inheritance of parental chromosomes 15 in Angelman syndrome-implications for the family
    • Webb T, Malcolm S, Pembrey ME, Clayton Smith J (1993) Inheritance of parental chromosomes 15 in Angelman syndrome-implications for the family. Genet Couns 4: 1-6
    • (1993) Genet Couns , vol.4 , pp. 1-6
    • Webb, T.1    Malcolm, S.2    Pembrey, M.E.3    Clayton Smith, J.4
  • 43
    • 0028917529 scopus 로고
    • A clinical, cytogenetic, and molecular study of 40 adults with the Prader-Willi syndrome
    • Webb T, Clarke D, Hardy CA, Kilpatrick MW, Corbett J, Dahlitz M (1995) A clinical, cytogenetic, and molecular study of 40 adults with the Prader-Willi syndrome. J Med Genet 32: 181-185
    • (1995) J Med Genet , vol.32 , pp. 181-185
    • Webb, T.1    Clarke, D.2    Hardy, C.A.3    Kilpatrick, M.W.4    Corbett, J.5    Dahlitz, M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.