메뉴 건너뛰기




Volumn 66, Issue 4, 2004, Pages 368-372

Genetic basis of Prader-Willi syndrome in Korea: Less uniparental disomy than has been recognized? [2]

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME 15Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CONTROLLED STUDY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; INFANT; INHERITANCE; INTERSTITIAL CHROMOSOME DELETION; LETTER; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; PRADER WILLI SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; SHORT TANDEM REPEAT; SOUTH KOREA; UNIPARENTAL DISOMY;

EID: 4844223626     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2004.00323.x     Document Type: Letter
Times cited : (12)

References (26)
  • 1
    • 0024440608 scopus 로고
    • Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome
    • Nicholls RD, Knoll JH, Butler MG et al. Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome. Nature 1989: 342 (6247): 281-285.
    • (1989) Nature , vol.342 , Issue.6247 , pp. 281-285
    • Nicholls, R.D.1    Knoll, J.H.2    Butler, M.G.3
  • 2
    • 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 et al. 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 (2): 285-290.
    • (1989) Am. J. Med. Genet. , vol.32 , Issue.2 , pp. 285-290
    • Knoll, J.H.1    Nicholls, R.D.2    Magenis, R.E.3
  • 3
    • 0027738562 scopus 로고
    • Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene
    • Buiting K, Dittrich B, Gross S et al. Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene. Hum Mol Genet 1993: 2 (12): 1991-1994.
    • (1993) Hum. Mol. Genet. , vol.2 , Issue.12 , pp. 1991-1994
    • Buiting, K.1    Dittrich, B.2    Gross, S.3
  • 4
    • 0027476242 scopus 로고
    • Prader-Willi syndrome: Consensus diagnostic criteria
    • Holm VA, Cassidy SB, Butler MG et al. Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics 1993: 91 (2): 398-402.
    • (1993) Pediatrics , vol.91 , Issue.2 , pp. 398-402
    • Holm, V.A.1    Cassidy, S.B.2    Butler, M.G.3
  • 5
    • 0019377986 scopus 로고
    • Deletions of chromosome 15 as a cause of the Prader-Willi syndrome
    • Ledbetter DH, Riccardi VM, Airhart SD et al. Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. N Engl J Med 1981: 304 (6): 325-329.
    • (1981) N. Engl. J. Med. , vol.304 , Issue.6 , pp. 325-329
    • Ledbetter, D.H.1    Riccardi, V.M.2    Airhart, S.D.3
  • 6
    • 0028900374 scopus 로고
    • DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome
    • Gillessen-Kaesbach G, Gross S, Kaya-Westerloh S et al. DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome. J Med Genet 1995: 32 (2): 88-92.
    • (1995) J. Med. Genet. , vol.32 , Issue.2 , pp. 88-92
    • Gillessen-Kaesbach, G.1    Gross, S.2    Kaya-Westerloh, S.3
  • 7
    • 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 et al. Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15. Am J Med Genet 1997: 68 (4): 433-440.
    • (1997) Am. J. Med. Genet. , vol.68 , Issue.4 , pp. 433-440
    • Cassidy, S.B.1    Forsythe, M.2    Heeger, S.3
  • 8
    • 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. Am J Hum Genet 1998: 63 (1): 170-180.
    • (1998) Am. J. Hum. Genet. , vol.63 , Issue.1 , pp. 170-180
    • Buiting, K.1    Dittrich, B.2    Gross, S.3
  • 9
    • 0033073395 scopus 로고    scopus 로고
    • Imprinting-mutation mechanisms in Prader-Willi syndrome
    • Ohta T, Gray TA, Rogan PK et al. Imprinting-mutation mechanisms in Prader-Willi syndrome. Am J Hum Genet 1999: 64 (2): 397-413.
    • (1999) Am. J. Hum. Genet. , vol.64 , Issue.2 , pp. 397-413
    • Ohta, T.1    Gray, T.A.2    Rogan, P.K.3
  • 10
    • 0033810473 scopus 로고    scopus 로고
    • Familial Prader-Willi syndrome: Case report and a literature review
    • McEntagart ME, Webb T, Hardy C et al. Familial Prader-Willi syndrome: case report and a literature review. Clin Genet 2000: 58 (3): 216-223.
    • (2000) Clin. Genet. , vol.58 , Issue.3 , pp. 216-223
    • McEntagart, M.E.1    Webb, T.2    Hardy, C.3
  • 11
    • 0002817593 scopus 로고    scopus 로고
    • Molecular cytogenetics of contiguous gene syndromes: Mechanisms and consequences of gene dosage imbalance
    • (Scriver CR, Beaudet AL, Sly WS, Valle D, eds) New York: McGraw-Hill
    • Shaffer LG, Ledbetter DH, Lupski JR. Molecular cytogenetics of contiguous gene syndromes: mechanisms and consequences of gene dosage imbalance. In: The Metabolic and Molecular Bases of Inherited Disease (Scriver CR, Beaudet AL, Sly WS, Valle D, eds). New York: McGraw-Hill, 2001: 1291-1324.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 1291-1324
    • Shaffer, L.G.1    Ledbetter, D.H.2    Lupski, J.R.3
  • 12
    • 0029856469 scopus 로고    scopus 로고
    • Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome
    • Kubota T, Sutcliffe JS, Aradhya S et al. Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome. Am J Med Genet 1996: 66 (1): 77-80.
    • (1996) Am. J. Med. Genet. , vol.66 , Issue.1 , pp. 77-80
    • Kubota, T.1    Sutcliffe, J.S.2    Aradhya, S.3
  • 13
    • 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 (1): 16-17.
    • (1997) Nat. Genet. , vol.16 , Issue.1 , pp. 16-17
    • Kubota, T.1    Das, S.2    Christian, S.L.3
  • 14
    • 0029867499 scopus 로고    scopus 로고
    • Diagnostic testing for Prader-Willi and Angleman syndromes: Report of the ASHG/ACMG Test and Technology Transfer Committee
    • Diagnostic testing for Prader-Willi and Angleman syndromes: Report of the ASHG/ACMG Test and Technology Transfer Committee. Am J Hum Genet 1996: 58 (5): 1085-1088.
    • (1996) Am. J. Hum. Genet. , vol.58 , Issue.5 , pp. 1085-1088
  • 15
    • 0026341657 scopus 로고
    • Molecular study of the Prader-Willi syndrome: Deletion, RFLP, and phenotype analyses of 50 patients
    • Hamabe J, Fukushima Y, Harada N et al. Molecular study of the Prader-Willi syndrome: deletion, RFLP, and phenotype analyses of 50 patients. Am J Med Genet 1991: 41 (1): 54-63.
    • (1991) Am. J. Med. Genet. , vol.41 , Issue.1 , pp. 54-63
    • Hamabe, J.1    Fukushima, Y.2    Harada, N.3
  • 16
    • 0028786087 scopus 로고
    • Frequency of the Prader-Willi syndrome in the San-in district, Japan
    • Ehara H, Ohno K, Takeshita K. Frequency of the Prader-Willi syndrome in the San-in district, Japan. Brain Dev 1995: 17 (5): 324-326.
    • (1995) Brain Dev. , vol.17 , Issue.5 , pp. 324-326
    • Ehara, H.1    Ohno, K.2    Takeshita, K.3
  • 17
    • 0030159846 scopus 로고    scopus 로고
    • Prader-Willi syndrome: Clinical and molecular cytogenetic investigations
    • Hou JW, Wang TR. Prader-Willi syndrome: clinical and molecular cytogenetic investigations. J Formos Med Assoc 1996: 95 (6): 474-479.
    • (1996) J. Formos. Med. Assoc. , vol.95 , Issue.6 , pp. 474-479
    • Hou, J.W.1    Wang, T.R.2
  • 18
    • 0031737464 scopus 로고    scopus 로고
    • Evaluation of methylation analysis for diagnostic testing in 258 referrals suspected of Prader-Willi or Angelman syndromes
    • Buchholz T, Jackson J, Robson L et al. Evaluation of methylation analysis for diagnostic testing in 258 referrals suspected of Prader-Willi or Angelman syndromes. Hum Genet 1998: 103 (5): 535-539.
    • (1998) Hum. Genet. , vol.103 , Issue.5 , pp. 535-539
    • Buchholz, T.1    Jackson, J.2    Robson, L.3
  • 19
    • 0035515362 scopus 로고    scopus 로고
    • The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria
    • Gunay-Aygun M, Schwartz S, Heeger S et al. The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. Pediatrics 2001: 108 (5): E92.
    • (2001) Pediatrics , vol.108 , Issue.5
    • Gunay-Aygun, M.1    Schwartz, S.2    Heeger, S.3
  • 20
    • 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. Am J Hum Genet 2003: 73 (4): 898-925.
    • (2003) Am. J. Hum. Genet. , vol.73 , Issue.4 , pp. 898-925
    • Chai, J.H.1    Locke, D.P.2    Greally, J.M.3
  • 21
    • 7144260410 scopus 로고    scopus 로고
    • Maternal meiosis I non-disjunction of chromosome 15: Dependence of the maternal age effect on level of recombination
    • Robinson WP, Kuchinka BD, Bernasconi F et al. Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination. Hum Mol Genet 1998: 7 (6): 1011-1019.
    • (1998) Hum. Mol. Genet. , vol.7 , Issue.6 , pp. 1011-1019
    • Robinson, W.P.1    Kuchinka, B.D.2    Bernasconi, F.3
  • 22
    • 0034096456 scopus 로고    scopus 로고
    • Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15
    • Robinson WP, Christian SL, Kuchinka BD et al. Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15. Clin Genet 2000: 57 (5): 349-358.
    • (2000) Clin. Genet. , vol.57 , Issue.5 , pp. 349-358
    • Robinson, W.P.1    Christian, S.L.2    Kuchinka, B.D.3
  • 23
    • 0034098812 scopus 로고    scopus 로고
    • Mechanisms leading to uniparental disomy and their clinical consequences
    • Robinson WP. Mechanisms leading to uniparental disomy and their clinical consequences. Bioessays 2000: 22 (5): 452-459.
    • (2000) Bioessays , vol.22 , Issue.5 , pp. 452-459
    • Robinson, W.P.1
  • 24
    • 0028229959 scopus 로고
    • Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes
    • Reis A, Dittrich B, Greger V et al. Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes. Am J Hum Genet 1994: 54 (5): 741-747.
    • (1994) Am J. Hum. Genet. , vol.54 , Issue.5 , pp. 741-747
    • Reis, A.1    Dittrich, B.2    Greger, V.3
  • 25
    • 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 (4): 395-400.
    • (1995) Nat. Genet. , vol.9 , Issue.4 , pp. 395-400
    • Buiting, K.1    Saitoh, S.2    Gross, S.3
  • 26
    • 0037371674 scopus 로고    scopus 로고
    • Epimutations in Prader-Willi and Angelman syndromes: A molecular study of 136 patients with an imprinting defect
    • Buiting K, Gross S, Lich C et al. Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect. Am J Hum Genet 2003: 72 (3): 571-577.
    • (2003) Am. J. Hum. Genet. , vol.72 , Issue.3 , pp. 571-577
    • Buiting, K.1    Gross, S.2    Lich, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.