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1 using hemizygosity and 94 with homozygosity (isodisomy).
2  mosaicism, and several cases of uniparental isodisomy.
3 isodisomy and 4 had interstitial uniparental isodisomy.
4 niparental disomy have had complete paternal isodisomy.
5 al X disomy that is associated with maternal isodisomy.
6 loss of heterozygosity (LOH) via uniparental isodisomy.
7 nt as well as cases of recurrent uniparental isodisomy.
8 runcating cis RPA1 mutation or a uniparental isodisomy 17p with loss of mutant allele, coinciding wit
9 0-Mb LOH segments, 4 had partial uniparental isodisomy and 4 had interstitial uniparental isodisomy.
10 ified and defined a chromosome 7 uniparental isodisomy and a 7p telomeric microdeletion in an affecte
11 llites demonstrated allele-specific maternal isodisomy and heterodisomy of the long arm.
12 s, inversions, large insertions, uniparental isodisomies, and tandem repeat expansions), and 2% were
13       All cases demonstrated mosaic paternal isodisomy, and IGF2 and H19 were included in the segment
14  the first report of a functional maternal X isodisomy, and the largest X chromosome to escape inacti
15 that the cases with interstitial uniparental isodisomy arose in a leukemia-initiating cell by double-
16 ilson's disease due to segmental uniparental isodisomy as well as three patients with three ATP7B mut
17 Leu206His and the third patient had paternal isodisomy for chromosome 19 and was homozygous for p.Met
18    In a third OS case, WGS revealed paternal isodisomy for chromosome 9, leading to identification of
19         The karyotypically normal iPSCs with isodisomy for the corrected chromosome outgrew co-existi
20 trophin gene mutation was caused by maternal isodisomy for the entire X chromosome.
21 duals is due to apparently complete paternal isodisomy involving reduction to homoallelism for RPE65
22 ome 1q by observing two cases of uniparental isodisomy of 1q-the inheritance of both copies of this m
23  osteodystrophy who has paternal uniparental isodisomy of chromosome 20q and lacks the maternal-speci
24  in this patient is due to complete maternal isodisomy of chromosome 3 and reduction to homozygosity
25             Group 1 had paternal uniparental isodisomy of chromosome 6 (11 cases, including 1 set of
26    We recently reported paternal uniparental isodisomy of chromosome 6 (UPD6) in two children with TN
27  was caused by uniparental disomy (UPD) with isodisomy of the entire maternal Chr1 bearing the mutant
28   This finding demonstrates that uniparental isodisomy of the X chromosome is an additional mechanism
29 zygosity caused by autozygosity, uniparental isodisomy or hemizygosity play a major role in defining
30 rphism arrays, we identified a region of 11q isodisomy that contains the CBL gene in several JMML sam
31 wed mosaic interstitial paternal uniparental isodisomy (UPD) for chromosome 11p15.1.
32 to homozygosity as the result of uniparental isodisomy (UPD) in a patient with KS and a de novo, domi
33 trated mosaic segmental paternal uniparental isodisomy (UPD) of 11pter-11p14 in the proband that enco
34         In one patient, paternal uniparental isodisomy (UPD) of chromosome 1 resulted in homozygosity
35 the paternal uniparental disomy with partial isodisomy was caused by a meiosis II nondisjunction even