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Volumn 18, Issue 2, 2010, Pages 154-155

Prader-Willi and Angelman syndromes: Genetic counseling

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME 15; CHROMOSOME ANALYSIS; CHROMOSOME REARRANGEMENT; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC COUNSELING; HAPPY PUPPET SYNDROME; HUMAN; KARYOTYPING; LETTER; PRADER WILLI SYNDROME; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROMOTER REGION; ROBERTSONIAN CHROMOSOME TRANSLOCATION; UNIPARENTAL DISOMY;

EID: 74449089540     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2009.170     Document Type: Letter
Times cited : (4)

References (10)
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    • Van Buggenhout, G.1    Fryns, J.P.2
  • 3
    • 0030954459 scopus 로고    scopus 로고
    • A case with 47,XXY,del(15)(q11;q13) karyotype associated with Prader-Willi phenotype
    • Rego A, Coll MD, Regal M, Guitart M, Escudero T, García-Mayor RV: A case with 47,XXY,del(15)(q11;q13) karyotype associated with Prader-Willi phenotype. Horm Res 1997; 48: 44-46.
    • (1997) Horm Res , vol.48 , pp. 44-46
    • Rego, A.1    Coll, M.D.2    Regal, M.3    Guitart, M.4    Escudero, T.5    García-Mayor, R.V.6
  • 5
    • 34248544965 scopus 로고    scopus 로고
    • Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics
    • Liehr T, Weise A: Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics. Int J Mol Med 2007; 19: 719-731.
    • (2007) Int J Mol Med , vol.19 , pp. 719-731
    • Liehr, T.1    Weise, A.2
  • 6
    • 18844410816 scopus 로고    scopus 로고
    • Prader-Willi syndrome with a karyotype 47,XY,+min(15)(pter-q11.1:) and maternal UPD 15-case report plus review of similar cases
    • Liehr T, Brude E, Gillessen-Kaesbach G et al: Prader-Willi syndrome with a karyotype 47,XY,+min(15)(pter-q11.1:) and maternal UPD 15-case report plus review of similar cases. Eur J Med Genet 2005; 48: 175-181.
    • (2005) Eur J Med Genet , vol.48 , pp. 175-181
    • Liehr, T.1    Brude, E.2    Gillessen-Kaesbach, G.3
  • 7
    • 0037371674 scopus 로고    scopus 로고
    • El-Maarri O, Horsthemke B: Epimutations in Prader-Willi and Angelman syndromes: A molecular study of 136 patients with an imprinting defect
    • Buiting K, Gross S, Lich C, Gillessen-Kaesbach G, el-Maarri O, Horsthemke B: Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect. Am J Hum Genet 2003; 72: 571-577.
    • (2003) Am J Hum Genet , vol.72 , pp. 571-577
    • Buiting, K.1    Gross, S.2    Lich, C.3    Gillessen-Kaesbach, G.4
  • 8
    • 33846251452 scopus 로고    scopus 로고
    • Imprinting center analysis in Prader-Willi and Angelman syndrome patients with typical and atypical phenotypes
    • Camprubí C, Coll MD, Villatoro S et al: Imprinting center analysis in Prader-Willi and Angelman syndrome patients with typical and atypical phenotypes. Eur J Med Genet 2007; 50: 11-20.
    • (2007) Eur J Med Genet , vol.50 , pp. 11-20
    • Camprubí, C.1    Coll, M.D.2    Villatoro, S.3
  • 9
    • 0033879513 scopus 로고    scopus 로고
    • An unexpected recurrence of Angelman syndrome suggestive of maternal germ-line mosaicism of del(15)(q11q13) in a Finnish family
    • Kokkonen H, Leisti J: An unexpected recurrence of Angelman syndrome suggestive of maternal germ-line mosaicism of del(15)(q11q13) in a Finnish family. Hum Genet 2000; 107: 83-85.
    • (2000) Hum Genet , vol.107 , pp. 83-85
    • Kokkonen, H.1    Leisti, J.2
  • 10
    • 1842688913 scopus 로고    scopus 로고
    • Prader-Willi syndrome large deletion on two brothers Is this the exception that confirm the rule?
    • Fernandez-Novoa MC, Vargas MT, Vizmanos JL et al: Prader-Willi syndrome large deletion on two brothers. Is this the exception that confirm the rule? Rev Neurol 2001; 32: 935-938.
    • (2001) Rev Neurol , vol.32 , pp. 935-938
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.