about
Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformationsExclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndromeHuman PPP1R26P1 functions as cis-repressive element in mouse Rb1.Massive parallel bisulfite sequencing of CG-rich DNA fragments reveals that methylation of many X-chromosomal CpG islands in female blood DNA is incomplete.The human retinoblastoma gene is imprinted.Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes.X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entityPartial and complete trisomy 14 mosaicism: clinical follow-up, cytogenetic and molecular analysis.SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome.Low frequency of imprinting defects in ICSI children born small for gestational age.A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndromeExpression of SNURF-SNRPN upstream transcripts and epigenetic regulatory genes during human spermatogenesisNovel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32.Deep bisulfite sequencing of aberrantly methylated loci in a patient with multiple methylation defectsThe origin of the RB1 imprint.A novel large deletion of the ICR1 region including H19 and putative enhancer elementsMaintenance of imprinting and nuclear architecture in cycling cellsThe molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites.Frequency and characterization of DNA methylation defects in children born SGA.Genomic imprinting and imprinting defects in humans.DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human GenomeEvidence for anticipation in Beckwith-Wiedemann syndrome.The imprinted NPAP1 gene in the Prader-Willi syndrome region belongs to a POM121-related family of retrogenes.Imprinting of RB1 (the new kid on the block).Prader-Willi syndrome and Angelman syndrome.Mosaicism and uniparental disomy in prenatal diagnosis.Somatic mosaicism in patients with Angelman syndrome and an imprinting defect.Angelman syndrome - insights into a rare neurogenetic disorder.Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing.The imprinted NPAP1/C15orf2 gene in the Prader-Willi syndrome region encodes a nuclear pore complex associated protein.The C15orf2 gene in the Prader-Willi syndrome region is subject to genomic imprinting and positive selection.The differentially methylated region of MEG8 is hypermethylated in patients with Temple syndrome.
P50
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P50
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onderzoeker
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Karin Buiting
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Karin Buiting
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Karin Buiting
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Karin Buiting
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Karin Buiting
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Karin Buiting
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Karin Buiting
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Karin Buiting
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Karin Buiting
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Karin Buiting
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Karin Buiting
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