Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.
about
Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjectsComparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates.Mechanisms for Complex Chromosomal Insertions.Copy number analysis of the low-copy repeats at the primate NPHP1 locus by array comparative genomic hybridization.Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.Identification of novel candidate disease genes from de novo exonic copy number variants.Genomic disorders 20 years on-mechanisms for clinical manifestations.Unusual de novo Partial Trisomy 17p12p11.2 due to Unbalanced Insertion into 5p13.1 in a Severely Affected Boy.Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage-sensitive genes with clinical severity in genomic disorders.Multiple occurrence of psychomotor retardation and recurrent miscarriages in a family with a submicroscopic reciprocal translocation t(7;17)(p22;p13.2)
P2860
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P2860
Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年学术文章
@wuu
2015年学术文章
@zh-cn
2015年学术文章
@zh-hans
2015年学术文章
@zh-my
2015年学术文章
@zh-sg
2015年學術文章
@yue
2015年學術文章
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2015年學術文章
@zh-hant
name
Nonrecurrent 17p11.2p12 Rearra ...... ous Gene Duplication Syndrome.
@ast
Nonrecurrent 17p11.2p12 Rearra ...... ous Gene Duplication Syndrome.
@en
type
label
Nonrecurrent 17p11.2p12 Rearra ...... ous Gene Duplication Syndrome.
@ast
Nonrecurrent 17p11.2p12 Rearra ...... ous Gene Duplication Syndrome.
@en
prefLabel
Nonrecurrent 17p11.2p12 Rearra ...... ous Gene Duplication Syndrome.
@ast
Nonrecurrent 17p11.2p12 Rearra ...... ous Gene Duplication Syndrome.
@en
P2093
P2860
P1476
Nonrecurrent 17p11.2p12 Rearra ...... ous Gene Duplication Syndrome.
@en
P2093
Andrew Coe
Christine R Beck
Claudia M B Carvalho
James R Lupski
Lorraine Potocki
Lydie Burglen
Pengfei Liu
Pilar L Magoulas
Sandra Chantot-Bastaraud
P2860
P304
P356
10.1016/J.AJHG.2015.10.003
P407
P577
2015-11-01T00:00:00Z