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| Further Reading |
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Baumer A,
Balmer D and
Schinzel A
(1999)
Screening for UBE3A gene mutations in a group of Angelman syndrome patients selected according to non-stringent clinical criteria.
Human Genetics
105:
598602.
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Bernasconi F,
Karaguzel A,
Celep F et al.
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A normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q).
American Journal of Human Genetics
59:
11141118.
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Bottani A,
Robinson WP,
DeLozier-Blanchet CD et al.
(1994)
Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype.
American Journal of Medical Genetics
51:
3540.
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Kirkels VGHJ,
Hustinx TWJ and
Scheres JMJC
(1980)
Habitual abortion and translocation (22q;22q): unexpected transmission from a mother to her phenotypically normal daughter.
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456461.
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Malcolm S,
Clayton-Smith J,
Nichols M et al.
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Uniparental paternal disomy in Angelman's syndrome.
Lancet
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Mannens M,
Hoovers JMN,
Redeker E et al.
(1994)
Parental imprinting of human chromosome region 11p15.3-pter involved in the BeckwithWiedemann syndrome and various neoplasia.
European Journal of Human Genetics
2:
323.
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Pentao L,
Lewis RA,
Ledbetter DH,
Patel PI and
Lupski JR
(1992)
Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy.
American Journal of Human Genetics
50:
690699.
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Purvis-Smith SG,
Saville T,
Manass MY et al.
(1992)
Uniparental disomy 15 resulting from correction of an initial trisomy 15.
American Journal of Human Genetics
50:
13481349.
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Wolstenholme J
(1995)
An audit of trisomy 16 in man.
Prenatal Diagnosis
15:
109121.
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Yamazawa K,
Nakabayashi K,
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(2010)
Parthernogenetic chimaerism/mosaicism with a Silver-Russell syndrome-like phenotype.
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154C:
329334.
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| Web Links |
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ePath
Insulin-like growth factor 2 (somatomedin A) (IGF2); Locus ID: 3481. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=3481
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ePath
Insulin-like growth factor 2 (somatomedin A) (IGF2); MIM number: 147470. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?147470
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ePath
KCNQ1 overlapping transcript 1 (KCNQ1OT1); Locus ID: 10984. Locus Link: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=10984
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ePath
KCNQ1 overlapping transcript 1 (KCNQ1OT1); MIM number: 604115. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?604115
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ePath
Pleiomorphic adenoma gene-like 1 (PLAGL1); Locus ID: 5325. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=5325
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ePath
Pleiomorphic adenoma gene-like 1 (PLAGL1); MIM number: 603044. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?603044
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ePath
Ubiquitin protein ligase E3A (human papilloma virus E6-associated protein, Angelman syndrome) (UBE3A); Locus ID: 7337. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=7337
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ePath
Ubiquitin protein ligase E3A (human papilloma virus E6-associated protein, Angelman syndrome) (UBE3A); MIM number: 601623. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?601623
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