Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated.
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Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomyClinical and functional characterization of a patient carrying a compound heterozygous pericentrin mutation and a heterozygous IGF1 receptor mutationCausal variants screened by whole exome sequencing in a patient with maternal uniparental isodisomy of chromosome 10 and a complicated phenotype.Intrauterine growth retardation fetus with trisomy 16 mosaicism.Diagnostic utility of novel combined arrays for genome-wide simultaneous detection of aneuploidy and uniparental isodisomy in losses of pregnancy.Epigenetic and genetic diagnosis of Silver-Russell syndrome.Maternal uniparental heterodisomy of chromosome 17 in a patient with nephropathic cystinosis.Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18.Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes.Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease Type 3.Uniparental disomy in Robertsonian translocations: strategies for uniparental disomy testingGenomic imprinting and dermatological disease.DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human GenomeInherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genesChromosome duplication (14q) and the genotype phenotype correlation.Human imprinting syndromes.Current knowledge of prenatal diagnosis of mosaic autosomal trisomy in amniocytes: karyotype/phenotype correlations.Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction.Maternal uniparental disomy of chromosome 16 [upd(16)mat]: clinical features are rather caused by (hidden) trisomy 16 mosaicism than by upd(16)mat itself.Confined placental mosaicism and pregnancy outcome: a distinction needs to be made between types 2 and 3.HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 8.A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndromeSomatic uniparental disomy of Chromosome 16p in hemimegalencephaly.Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15Phenotypic spectrum in uniparental disomy: Low incidence or lack of study?Segmental uniparental isodisomy on 5q32-qter in a patient with childhood-onset schizophrenia.Complete paternal uniparental isodisomy for Chromosome 2 revealed in a parentage testing case.Obesity and developmental delay in a patient with uniparental disomy of chromosome 2.Hepatoblastoma in an infant with paternal uniparental disomy 14.Obesity in pycnodysostosis due to UPD1: Possible effect of an imprinted gene on chromosome 1Non-pathological paternal isodisomy of chromosome 2 detected from a genome-wide SNP scanWest syndrome associated with mosaic duplication ofFOXG1in a patient with maternal uniparental disomy of chromosome 14Maternal uniparental isodisomy (iUPD) of chromosome 4 in a subject with mild intellectual disability and speech delay
P2860
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P2860
Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated.
description
2005 nî lūn-bûn
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2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
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2005年學術文章
@yue
2005年學術文章
@zh-hant
name
Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated.
@en
Uniparental disomy
@nl
type
label
Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated.
@en
Uniparental disomy
@nl
prefLabel
Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated.
@en
Uniparental disomy
@nl
P2860
P356
P1476
Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated.
@en
P2093
Dieter Kotzot
Gerd Utermann
P2860
P304
P356
10.1002/AJMG.A.30483
P407
P577
2005-07-01T00:00:00Z