Mechanisms leading to uniparental disomy and their clinical consequences
about
Embryonic stem cells and somatic cells differ in mutation frequency and typeRetinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectivelyM6P/IGF2R loss of heterozygosity in head and neck cancer associated with poor patient prognosisAnalysis and visualization of chromosomal abnormalities in SNP data with SNPscanSomatic mosaicism in the human genomePaternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism.A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disordersGenetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research dataComprehensive SNP array study of frequently used neuroblastoma cell lines; copy neutral loss of heterozygosity is common in the cell lines but uncommon in primary tumorsMolecular allelokaryotyping of T-cell prolymphocytic leukemia cells with high density single nucleotide polymorphism arrays identifies novel common genomic lesions and acquired uniparental disomyCell-autonomous correction of ring chromosomes in human induced pluripotent stem cellsUniparental disomy determined by whole-exome sequencing in a spectrum of rare motoneuron diseases and ataxias.Cytogenetic contribution to uniparental disomy (UPD).Copy neutral loss of heterozygosity: a novel chromosomal lesion in myeloid malignanciesPartial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome.Breast cancer patients with lobular cancer more commonly have a father than a mother diagnosed with cancer.Genome-wide UPD screening in patients with intellectual disabilityComplex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements.Safety paradigm: genetic evaluation of therapeutic grade human embryonic stem cellsHigh-resolution SNP array analysis of patients with developmental disorder and normal array CGH results.LOH detected by microsatellite markers reveals the clonal origin of recurrent laryngeal squamous cell carcinoma.Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa.Paternal uniparental isodisomy of the entire chromosome 20 as a molecular cause of pseudohypoparathyroidism type Ib (PHP-Ib)Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndromeUnusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomySNP array-based karyotyping: differences and similarities between aplastic anemia and hypocellular myelodysplastic syndromes.Parent-specific copy number in paired tumor-normal studies using circular binary segmentationMechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis.Emerging paradigms in cancer genetics: some important findings from high-density single nucleotide polymorphism array studies.Global analysis of uniparental disomy using high density genotyping arrays.Detection of Hereditary 1,25-Hydroxyvitamin D-Resistant Rickets Caused by Uniparental Disomy of Chromosome 12 Using Genome-Wide Single Nucleotide Polymorphism Array.Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypoparathyroidism type Ib (sporPHP1B)Genome-wide uniparental disomy screen in human discarded morphologically abnormal embryos.Clinical Application of an Innovative Multiplex-Fluorescent-Labeled STRs Assay for Prader-Willi Syndrome and Angelman Syndrome.Epigenetic Dysregulation Observed in Monosomy Blastocysts Further Compromises Developmental Potential.Ten Novel Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts and a Long-Term Follow-Up Research.CD45-deficient severe combined immunodeficiency caused by uniparental disomy.Integrating the multiple dimensions of genomic and epigenomic landscapes of cancer.Prenatal diagnosis of complete maternal uniparental isodisomy of chromosome 4 in a fetus without congenital abnormality or inherited disease-associated variations.Phenotypic Association Analyses With Copy Number Variation in Recurrent Depressive Disorder.
P2860
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P2860
Mechanisms leading to uniparental disomy and their clinical consequences
description
2000 nî lūn-bûn
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2000 թուականի Մայիսին հրատարակուած գիտական յօդուած
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2000 թվականի մայիսին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
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2000年論文
@zh-hant
2000年論文
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2000年論文
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2000年論文
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2000年论文
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name
Mechanisms leading to uniparental disomy and their clinical consequences
@ast
Mechanisms leading to uniparental disomy and their clinical consequences
@en
Mechanisms leading to uniparental disomy and their clinical consequences
@nl
type
label
Mechanisms leading to uniparental disomy and their clinical consequences
@ast
Mechanisms leading to uniparental disomy and their clinical consequences
@en
Mechanisms leading to uniparental disomy and their clinical consequences
@nl
prefLabel
Mechanisms leading to uniparental disomy and their clinical consequences
@ast
Mechanisms leading to uniparental disomy and their clinical consequences
@en
Mechanisms leading to uniparental disomy and their clinical consequences
@nl
P3181
P1433
P1476
Mechanisms leading to uniparental disomy and their clinical consequences
@en
P2093
W P Robinson
P3181
P356
10.1002/(SICI)1521-1878(200005)22:5<452::AID-BIES7>3.3.CO;2-B
P407
P577
2000-05-01T00:00:00Z