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Volumn 72, Issue 1, 2003, Pages 218-219

Another case of imprinting defect in a girl with Angelman syndrome who was conceived by intracytoplasmic sperm injection [3]

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CHILD DEVELOPMENT; FEMALE; FERTILIZATION IN VITRO; FLUORESCENCE IN SITU HYBRIDIZATION; GENE LOCUS; HAPPY PUPPET SYNDROME; HETEROZYGOSITY; HUMAN; INTRACYTOPLASMIC SPERM INJECTION; LETTER; MALE INFERTILITY; METHYLATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RISK FACTOR; SEQUENCE ANALYSIS; SOUTHERN BLOTTING;

EID: 0037221929     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/346030     Document Type: Letter
Times cited : (325)

References (6)
  • 1
    • 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, Grofß S, Lich C, Färber C, Buchholz T, Smith E, et al (1998) Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: Implications for imprint-switch models, genetic counseling, and prenatal diagnosis. Am J Hum Genet 63:170-180
    • (1998) Am J Hum Genet , vol.63 , pp. 170-180
    • Buiting, K.1    Dittrich, B.2    Grofß, S.3    Lich, C.4    Färber, C.5    Buchholz, T.6    Smith, E.7
  • 2
    • 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 (1999) A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp. Hum Genet 105:665-666
    • (1999) Hum Genet , vol.105 , pp. 665-666
    • Buiting, K.1    Lich, C.2    Cottrell, S.3    Barnicoat, A.4    Horsthemke, B.5
  • 5
    • 0035973367 scopus 로고    scopus 로고
    • Outcome in the second year of life after in-vitro fertilisation by intracytosplamic sperm injection: A UK case-control study
    • Sutcliffe AG, Taylor B, Saunders K, Thornton S, Liebermann BA, Grudzinskas JG (2001) Outcome in the second year of life after in-vitro fertilisation by intracytosplamic sperm injection: A UK case-control study. Lancet 357:2080-2084
    • (2001) Lancet , vol.357 , pp. 2080-2084
    • Sutcliffe, A.G.1    Taylor, B.2    Saunders, K.3    Thornton, S.4    Liebermann, B.A.5    Grudzinskas, J.G.6
  • 6
    • 0030916936 scopus 로고    scopus 로고
    • A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus
    • Zeschnigk M, Lich C, Buiting K, Horsthemke B, Dörfler W (1997) A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus. Eur J Hum Genet 5:94-98
    • (1997) Eur J Hum Genet , vol.5 , pp. 94-98
    • Zeschnigk, M.1    Lich, C.2    Buiting, K.3    Horsthemke, B.4    Dörfler, W.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.