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1 iency phenotypes (increased growth rate when hemizygous).
2 Less than half of patients are 22q11 hemizygous.
3 e ancestral W female sex chromosome), and is hemizygous.
4 enital-anomaly disorders caused by a de novo hemizygous 22q11.2 deletion mediated by meiotic nonallel
6 ndrome (VCFS/DGS) is associated with de novo hemizygous 22q11.2 deletions and is characterized by mal
7 se reports of parkinsonism co-occurring with hemizygous 22q11.2 deletions and the associated multisys
11 Also, cultures from Nf1 mutant embryos with hemizygous and biallelic Nf1 mutations have dramatically
14 ocus heterozygotes develop as females, while hemizygous and homozygous eggs develop as haploid and di
17 rotein are decreased in HDL2 brain, and Jph3 hemizygous and null mice exhibit abnormal motor function
20 In the other, most intergenic insertions are hemizygous and, thus, incapable of homologous recombinat
21 Compared with p53 wild-type animals, p53 hemizygous animals had early onset of lesions and a pron
24 and grip force were lower in homozygous and hemizygous Berkley mice (BERK and hBERK1, respectively)
25 CI 0.86-1.11; p=0.82) or homozygous girls or hemizygous boys (0.93, 0.82-1.04; p=0.25), with the sole
26 no evidence for protection among G6PD c.202T hemizygous boys and homozygous girls (OR 1.18, 0.99-1.40
27 kg once daily for 3 days), 95 G6PD-deficient hemizygous boys, 24 G6PD-deficient homozygous girls, and
31 ouse embryonic stem cells (ESCs) with nested hemizygous chromosomal deletions, we reveal that ribosom
32 gens with the amount of IL-4 produced in the hemizygous condition falling close to the threshold requ
33 eceptor channel was reduced to less than the hemizygous control and to less than half of the wild-typ
37 tly, KIF1Bbeta and DRP1 are silenced in 1p36 hemizygous-deleted neuroblastomas, indicating that dereg
41 indicated that promoter hypermethylation and hemizygous deletion contributed to the down-regulation o
42 zygosity that accrues as gene conversion and hemizygous deletion expose preexisting recessive deleter
43 uish loss of heterozygosity events caused by hemizygous deletion from those that occur by copy-neutra
46 -GATA site (T AGATAA: AGCCCC) and found that hemizygous deletion led to an embryonic lethal phenotype
47 eletion syndrome (22qDS), characterized by a hemizygous deletion of 1.5-3 Mb on chromosome 22 at locu
48 c genome rearrangement in TB that caused the hemizygous deletion of 313 genes, including the loss of
50 ychiatric abnormalities and is caused by the hemizygous deletion of a 1.5-3 Mb region of chromosome 2
54 aniofacial development are associated with a hemizygous deletion of chromosome 22q11 in humans and in
56 ssues, we took advantage of the link between hemizygous deletion of human chromosome 22q11.2 and high
63 mors that lack intragenic mutations but have hemizygous deletion of PTEN, which includes the promoter
65 atment was identified who harbored a somatic hemizygous deletion of the DNA repair gene FANCA and put
66 mouse model (Df[h15q13]/+) was generated by hemizygous deletion of the orthologous region and charac
68 ation, and immunodeficiency resulting from a hemizygous deletion of the short arm of chromosome 4, ca
72 s syndrome (WS), a rare disorder caused by a hemizygous deletion on chromosome 7q11.23, including gen
73 22q11DS), the result of a 1.5- to 3-megabase hemizygous deletion on human chromosome 22, results in d
75 the observed 27-40% LOH presents evidence of hemizygous deletion with the remaining allele hypermethy
76 1.2 locus, to levels more than expected by a hemizygous deletion, and we demonstrate that this reduct
78 CDKN1B in 14 of 180 SI-NETs, and we detected hemizygous deletions encompassing CDKN1B in 7 out of 50
81 otably, human high-grade gliomas carry focal hemizygous deletions of the X-linked Huwe1 gene in assoc
82 homozygous autosomal, complex autosomal and hemizygous deletions on the X chromosome of probands.
83 rier mutations, we identified homozygous and hemizygous deletions potentially causative for recessive
84 ber of probes for genomic amplifications and hemizygous deletions that were initially detected by Rep
85 ed aberrations include homozygous deletions, hemizygous deletions, copy-neutral LOH, duplications, an
86 rcinomas analyzed, 3 (13%) have somatic KLLN hemizygous deletions, with somatic loss of the wild-type
89 Liver tissues from mice with liver-specific hemizygous disruption of Ppargc1a placed on an obesogeni
90 patients with heterozygous TERT mutations or hemizygous DKC1 mutations, these 2 homozygous TERT patie
92 e resulting fitted models are applied to the hemizygous donors, one model (the one with the positive
93 these studies in wild-type C57BL/6 mice and hemizygous Drd1a-td Tomato (D1-Tmt), Drd1a-eGFP (D1-GFP)
102 ed Tconv clones from a female subject who is hemizygous for a null mutation in FOXP3, allowing the co
104 lity of hybrid males that are simultaneously hemizygous for a small region of the D. simulans autosom
105 11 (g.73664C > T c.1846C > T p.Arg616*) and hemizygous for a transition mutation in Exon 6 of Nance-
106 of LOH: loss of transgene expression in mice hemizygous for a ubiquitously expressed enhanced green f
107 except at the test locus, which is rendered hemizygous for alternative alleles from the two parental
108 nd Pax6(+/+) littermates, age 3 to 28 weeks, hemizygous for an X-linked LacZ transgene, and Pax6(+/+)
110 nd related phenotypes of db/db mice that are hemizygous for both NSE-LEPR-B and SYN-LEPR-B transgenes
112 odeletion syndrome (15q13.3DS) are typically hemizygous for CHRNA7, the gene coding for the alpha7 ni
115 uals derived from these inbred lines will be hemizygous for each of these non-allelic homologs but RI
117 onin neurons are genetically deleted in mice hemizygous for ePet1-Cre and homozygous for floxed Lmx1b
118 olving immature vessels was observed in mice hemizygous for Grk2 or in animals with endothelium-speci
120 sessed APC mobilization and function in mice hemizygous for knockout of the insulin receptor (IRKO) a
123 ial cells of mice that were Brca1 mutant and hemizygous for p53 increased the percentage of mice exhi
126 uppressing the expression of EphB4; PV cells hemizygous for Pten show an approximately 2-fold increas
127 ly, we estimate that typical individuals are hemizygous for roughly 30-50 deletions larger than 5 kb,
128 further revealed that undifferentiated ESCs hemizygous for Rps5 showed reduced expression levels of
133 , the use of inbred strains of mice that are hemizygous for the Drd2 BAC transgene provides a reliabl
140 nic animals that were homozygous rather than hemizygous for the Sp2 transgene exhibited a striking ar
145 d strains of mice (C57BL/6, FVB/N) that were hemizygous for the transgene, the Drd2-eGFP BAC transgen
149 x invasion are enzymatically normal, even in hemizygous G6PD-Mahidol G487A mutants; thus, allowing th
152 ome-wide transcriptional consequences of the hemizygous genomic microdeletion at chromosome 7q11.23.
153 FISH) was used to confirm that the ASGR is a hemizygous genomic region and to determine its chromosom
155 of the csd gene determine femaleness, while hemizygous genotypes (single specificity) determine male
157 cus develop as females; individuals that are hemizygous (haploid) or homozygous (diploid) at the sex
159 hat lack a functional androgen receptor (Tfm hemizygous) have reduced levels of renal CYP2J5 and do n
160 identify rare and intragenic homozygous and hemizygous (HMZ) deletions that may represent complete l
161 ess, a specific facial nerve hypomorphism in hemizygous Hoxb1(A1/-) mice and decreased viability in h
162 inue to collapse the homozygous (i.e., A/A), hemizygous (i.e., A/0), and duplicative (i.e., A/A/A) ge
167 veral of these markers have been shown to be hemizygous in the polyploid genome of P. squamulatum.
171 erve a significant 1.5-fold increase in rare hemizygous knockouts in males, contributing to another 2
172 ic ablation of Atp6ap2 resulted in both male hemizygous lethality and female haploinsufficiency.
176 brid mapping population was developed from a hemizygous (lo) scsae--line using 35 krad gamma rays.
177 critical for normal cognitive function; its hemizygous loss is linked to the severe mental retardati
178 example, breakpoints leading to large-scale hemizygous loss of chromosome 11q were highly clustered
179 cent studies have revealed downregulation or hemizygous loss of Dicer in many tumor models and demons
184 y, rare human prostate cancer samples showed hemizygous loss of the COP1 gene, loss of COP1 protein,
185 u syndrome (PTS) seems to occur by virtue of hemizygous loss of the FLI1 transcription factor gene.
190 alphaS homozygous M83 Tg mice and 3-4 mo for hemizygous M83 Tg mice, these animals developed a rapid,
191 oneal (i.p.) injections of alphaS fibrils in hemizygous M83 transgenic (M83(+/-)) mice resulted in CN
193 e-specific inheritance pattern of FDH, Porcn hemizygous male embryos arrest during early embryogenesi
194 limb strength and exercise capacity in adult hemizygous male mice starting from 7 to 10 months of age
201 type I syndrome leading to prenatal death in hemizygous males and dysmorphic faces and brain malforma
204 test is applied to the females only, and the hemizygous males are considered to be uninformative.
213 0.81%-units (95% CI 0.66-0.96) per allele in hemizygous men, and 0.68%-units (95% CI 0.38-0.97) in ho
214 all EGFPf-positive cultured DRG neurons from hemizygous mice (TRPM8(EGFPf/+)) responded to cold and m
216 NF-kappaB essential modulator) are lethal in hemizygous mice and men, whereas hypomorphic alleles typ
218 cient operation of the shuttle in the aralar hemizygous mice prevents the protective role of L-lactat
220 The prediabetes stage was prolonged in the hemizygous mice, wherein beta-cell dysfunction and exten
221 ype AQP2 and AQP2-T126M were bred to produce hemizygous mice, which following excision of the wild-ty
225 rome (WS), a genetic disorder resulting from hemizygous microdeletion of chromosome 7q11.23, has emer
226 syndrome (WS), a genetic disorder caused by hemizygous microdeletion on chromosome 7q11.23 and chara
231 ically diagnosed with WDSTS; this revealed a hemizygous, missense mutation in SMC1A that was predicte
234 in by CRISPR-Cas9 mutagenesis and found that hemizygous mutants displayed significant differences in
240 of the autosomal type IV collagen genes, or hemizygous mutations in the X-linked gene encoding the a
246 crest cells in Lgdel/+ mice and we performed hemizygous neural crest-specific inactivation of Lgdel.
247 noma NCI-H460 cells, which we show contain a hemizygous nonsense mutation in the Arkadia/RNF111 gene,
248 nts and exonic copy number variants, such as hemizygous nonsense, frameshift, and missense changes in
250 hT17M rhodopsin transgene in a line that was hemizygous null for wild-type mouse rhodopsin (mrho(+/-)
251 ssessments have been conducted in male Mecp2 hemizygous null mice as offspring of heterozygous dams.
254 u-3 and H-1573, supports the hypothesis that hemizygous or homozygous deletions are responsible for t
261 iciency phenotypes (reduced growth rate when hemizygous) or haploproficiency phenotypes (increased gr
262 Analyses of covariance revealed that Met-hemizygous patients performed significantly better on a
266 PCR techniques, we identified three germline hemizygous PTEN deletions in 122 apparently mutation-neg
267 heterozygous rare variants in autosomes and hemizygous rare variants in the X chromosome of males.
268 of the ASGR, currently defined as the entire hemizygous region that hybridizes with apomixis-linked b
269 of PDGF-B in the retinas of transgenic mice (hemizygous rho/PDGF-B mice) results in rapid-onset retin
272 etinograms (ERGs) were recorded from 44 male hemizygous Rs1h-KO and 44 male wild-type (WT) C57BL/6J m
274 f the intermediate phenotype of functionally hemizygous Scn8a(N1768D/-) mice indicates that severity
275 contrast, papillomas formed normally in Chk1 hemizygous skin but showed an increased propensity to pr
276 , heterozygous Sod2-knockout mouse (HET) and hemizygous Sod2 mice with overexpression of the enzyme (
278 anel of single-allele knockout strains whose hemizygous state mimics the genes' adaptive down-regulat
280 degree of correction in db/db mice that are hemizygous (Syn db/db) and homozygous (Syn/Syn db/db) fo
283 GLUD protein and activity in CNS neurons of hemizygous Tg mice were associated with increases in the
286 zygous Tg-TBK1 mice had 7.6% fewer RGCs than hemizygous Tg-TBK1 mice and 20% fewer RGCs than wild-typ
287 ghbouring genes, rendering cancer cells with hemizygous TP53 deletion vulnerable to further suppressi
289 at transgene expression can be restored when hemizygous transgenes that were silenced via multigenera
290 mLECs) derived from human IDO-overexpressing hemizygous transgenic (hemTg) and wild-type (Wt) mice we
291 ory hair cells within inner ear epithelia of hemizygous transgenic females due to X inactivation.
293 ces within a 200-kb X-linked region, and the hemizygous (unpaired) state of the Xist region promotes
294 on, we identified four predicted pathogenic, hemizygous variants on chromosome X in two known disease
296 y one-quarter were viable when homozygous or hemizygous, whereas the remaining lines caused homozygou
297 73 HMZ deletion calls (567 homozygous or 206 hemizygous) with an estimated sensitivity of 86.5% (82%
299 ous recombination to modify a native gene in hemizygous (wt/Deltaexon) human cancer cells, generating
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