A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications.

A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications.

Item
http://www.wikidata.org/entity/Q34325665
Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions.A newborn with ambiguous genitalia and a complex X;Y rearrangementA new patient with a terminal de novo 2p25.3 deletion of 1.9 Mb associated with early-onset of obesity, intellectual disabilities and hyperkinetic disorder.Copy number variations due to large genomic deletion in X-linked chronic granulomatous disease.A single copy of the recently identified dual oxidase maturation factor (DUOXA) 1 gene produces only mild transient hypothyroidism in a patient with a novel biallelic DUOXA2 mutation and monoallelic DUOXA1 deletionOn the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease.Germline mosaic transmission of a novel duplication of PXDN and MYT1L to two male half-siblings with autismGermline CDH1 deletions in hereditary diffuse gastric cancer familiesArray-CGH Analysis Suggests Genetic Heterogeneity in Rhombencephalosynapsis.Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females.Severe growth hormone deficiency and pituitary malformation in a patient with chromosome 2p25 duplication and 2q37 deletion.Large inverted duplications in the human genome form via a fold-back mechanism.Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome).MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions.Common structural features characterize interstitial intrachromosomal Xp and 18q triplications.
P2860

A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications.

Item
http://www.wikidata.org/entity/Q34325665
description
2008 nî lūn-bûn
@nan
2008 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
A familial inverted duplicatio ...... esis of inverted duplications.
@ast
A familial inverted duplicatio ...... esis of inverted duplications.
@en
A familial inverted duplicatio ...... esis of inverted duplications.
@nl
type
label
A familial inverted duplicatio ...... esis of inverted duplications.
@ast
A familial inverted duplicatio ...... esis of inverted duplications.
@en
A familial inverted duplicatio ...... esis of inverted duplications.
@nl
prefLabel
A familial inverted duplicatio ...... esis of inverted duplications.
@ast
A familial inverted duplicatio ...... esis of inverted duplications.
@en
A familial inverted duplicatio ...... esis of inverted duplications.
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
A familial inverted duplicatio ...... nesis of inverted duplications
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P932