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Case Reports
. 2003 Jan;72(1):218-9.
doi: 10.1086/346030.

Another case of imprinting defect in a girl with Angelman syndrome who was conceived by intracytoplasmic semen injection

K H Ørstavik, K Eiklid, C B van der Hagen, S Spetalen, K Kierulf, O Skjeldal, K Buiting
Case Reports

Another case of imprinting defect in a girl with Angelman syndrome who was conceived by intracytoplasmic semen injection

K H Ørstavik et al. Am J Hum Genet. 2003 Jan.
No abstract available

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References

Electronic-Database Information

    1. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim/ (for the AS gene [MIM 105830] and the SNRPN probe [MIM 182279])

References

    1. Buiting K, Dittrich B, Groß 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 - PMC - PubMed
    1. 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 - PubMed
    1. Cox GF, Bürger J, Lip V, Ulrike A, Mau UA, Sperling K, Wu BL, Horsthemke B (2002) Intracytoplasmic sperm injection may increase the risk of imprinting defects. Am J Hum Genet 71:162–164 - PMC - PubMed
    1. Manning M, Lissens W, Bonduelle M, Camus M, De Rijcke M, Liebaers I, Van Steirteghem A (2000) Study of DNA-methylation patterns at chromosome 15q11-q13 in children born after ICSI reveals no imprinting defects. Mol Hum Reprod 6:1049–1053 - PubMed
    1. 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 - PubMed

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