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Somatic mosaicism in the human genomeMicroarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disordersRepublished: Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetimeNon-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetimeAnderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequenceOn the paternal origin of trisomy 21 Down syndrome.Rare sequence variation in the genome flanking a short tandem repeat locus can lead to a question of "nonmaternity"Diagnostic utility of novel combined arrays for genome-wide simultaneous detection of aneuploidy and uniparental isodisomy in losses of pregnancy.Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome.High-resolution SNP array analysis of patients with developmental disorder and normal array CGH results.Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements.Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18.Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis.New array approaches to explore single cells genomesSegmental Maternal UPD6 with Prenatal Growth Restriction.Mosaicism for combined tetrasomy of chromosomes 8 and 18 in a dysmorphic child: a result of failed tetraploidy correction?Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.Uniparental Isodisomy of Chromosome 1 Unmasking an Autosomal Recessive 3-Beta Hydroxysteroid Dehydrogenase Type II-Related Congenital Adrenal Hyperplasia.The human cleavage stage embryo is a cradle of chromosomal rearrangements.Pathogenic or not? Assessing the clinical relevance of copy number variants.A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomy.Molecular cytogenetic characterisation of a mosaic add(12)(p13.3) with an inv dup(3)(q26.31 --> qter) detected in an autistic boy.Mosaic genome-wide maternal isodiploidy: an extreme form of imprinting disorder presenting as prenatal diagnostic challenge.Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1.Maternal uniparental disomy for chromosome 6 in a patient with IUGR, ambiguous genitalia, and persistent mullerian structures.Segmental uniparental isodisomy of chromosome 6 causing transient diabetes mellitus and merosin-deficient congenital muscular dystrophy.Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy.Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiencyNovel mutations in microsomal triglyceride transfer protein including maternal uniparental disomy in two patients with abetalipoproteinemia
P2860
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P2860
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 04 June 2008
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
@cs
name
Complex and segmental uniparental disomy updated.
@en
Complex and segmental uniparental disomy updated.
@nl
type
label
Complex and segmental uniparental disomy updated.
@en
Complex and segmental uniparental disomy updated.
@nl
prefLabel
Complex and segmental uniparental disomy updated.
@en
Complex and segmental uniparental disomy updated.
@nl
P356
P1476
Complex and segmental uniparental disomy updated.
@en
P2093
P304
P356
10.1136/JMG.2008.058016
P407
P577
2008-06-04T00:00:00Z