Inverted duplications on acentric markers: mechanism of formation.
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De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)sOrigin-dependent inverted-repeat amplification: a replication-based model for generating palindromic amplicons.Large inverted repeats within Xp11.2 are present at the breakpoints of isodicentric X chromosomes in Turner syndrome.Neocentric X-chromosome in a girl with Turner-like syndrome.Partial trisomy 2q33.3-q37.3 in a patient with an inverted duplicated neocentric marker chromosome.Human Structural Variation: Mechanisms of Chromosome Rearrangements.Multiplex ligation dependent probe amplification (MLPA) for rapid distinction between unique sequence positive and negative marker chromosomes in prenatal diagnosisA de novo sSMC(22) Characterized by High-Resolution Arrays in a Girl with Cat-Eye Syndrome without Coloboma.Large inverted duplications in the human genome form via a fold-back mechanism.Ring chromosomes: from formation to clinical potential.Neocentromeres to the Rescue of Acentric Chromosome Fragments.Formation of novel CENP-A domains on tandem repetitive DNA and across chromosome breakpoints on human chromosome 8q21 neocentromeres.Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister-Killian syndrome.Tetrasomy 15q25.2→qter identified with SNP microarray in a patient with multiple anomalies including complex cardiovascular malformation.Inverted duplication with deletion: first interstitial case suggesting a novel undescribed mechanism of formation.A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature.The dark side of centromeres: types, causes and consequences of structural abnormalities implicating centromeric DNA
P2860
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P2860
Inverted duplications on acentric markers: mechanism of formation.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
@pt
bilimsel makale
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scientific article published on 31 March 2009
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Inverted duplications on acentric markers: mechanism of formation.
@en
Inverted duplications on acentric markers: mechanism of formation.
@nl
type
label
Inverted duplications on acentric markers: mechanism of formation.
@en
Inverted duplications on acentric markers: mechanism of formation.
@nl
prefLabel
Inverted duplications on acentric markers: mechanism of formation.
@en
Inverted duplications on acentric markers: mechanism of formation.
@nl
P2093
P2860
P356
P1476
Inverted duplications on acentric markers: mechanism of formation.
@en
P2093
Andrea E Murmann
Chris A Curtis
Donald F Conrad
Heather Mashek
Raluca I Nicolae
Stuart Schwartz
P2860
P304
P356
10.1093/HMG/DDP160
P50
P577
2009-03-31T00:00:00Z