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Unusual phenotype in partial trisomy 14Subtelomeric FISH uncovers trisomy 14q32: lessons for imprinted regions, cryptic rearrangements and variant acrocentric short arms.Search for imprinted regions on chromosome 14: comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion.Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements.Mouse Peg9/Dlk1 and human PEG9/DLK1 are paternally expressed imprinted genes closely located to the maternally expressed imprinted genes: mouse Meg3/Gtl2 and human MEG3.Inheritance of a t(13;14)(q10;q10) Robertsonian translocation with a low level of trisomy 13 mosaicism.Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated.Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCR.
P2860
Q28139676-D9B6CCFF-DF6A-4254-A319-9505421BA5A5Q30850473-982351B3-5ABE-46AE-9440-F0BA5E3E8C9DQ34010175-29FEDB9E-E367-445F-B587-7AD4F3794722Q34325126-7A036280-93DF-4379-BAC6-2284ADD88566Q48382320-95C02A46-CEE7-462B-9492-1086B8897CA3Q51921238-BB7AC244-F36E-41C9-91E9-C68158DC940FQ53670809-0DE2264E-6224-4F27-80F1-DD70CC87303EQ54587662-BA7CAA55-8069-4E18-9E77-CC1AB9E9CD2F
P2860
description
1996 nî lūn-bûn
@nan
1996年の論文
@ja
1996年学术文章
@wuu
1996年学术文章
@zh
1996年学术文章
@zh-cn
1996年学术文章
@zh-hans
1996年学术文章
@zh-my
1996年学术文章
@zh-sg
1996年學術文章
@yue
1996年學術文章
@zh-hant
name
Maternal uniparental disomy for chromosome 14.
@en
Maternal uniparental disomy for chromosome 14.
@nl
type
label
Maternal uniparental disomy for chromosome 14.
@en
Maternal uniparental disomy for chromosome 14.
@nl
prefLabel
Maternal uniparental disomy for chromosome 14.
@en
Maternal uniparental disomy for chromosome 14.
@nl
P2093
P1476
Maternal uniparental disomy for chromosome 14.
@en
P2093
Dagna Bricarelli F
Mantero MM
P2860
P304
P356
10.1017/S0001566000001264
P577
1996-01-01T00:00:00Z