ライフサイエンスコーパス: hemizygosity

1 ion of the W chromosome and therefore female hemizygosity.

2 theories of Haldane's rule depended on this hemizygosity.

3 quantitative Southern blotting demonstrated hemizygosity.

4 Il4-hemizygosity also resulted in a modest but detectable dr

5 and a new genetic technique named reciprocal-hemizygosity analysis to achieve the complete dissection

6 sing 7 cases with a somatic deletion causing hemizygosity and 94 with homozygosity (isodisomy).

7 ent study was to evaluate the effect of COMT hemizygosity and molecular haplotypes on gene expression

8 Remarkably, only 52% had 22q11 hemizygosity and only 57% had congenital heart disease r

9 More than one hundred distinct gene hemizygosities are specifically linked to epilepsy, ment

10 We have also implicated LIM-kinase 1 hemizygosity as a contributing factor to impaired visual

11 ne responsible for the phenotypes of 22q11.2 hemizygosity-associated ASD possibly through its role in

12 Hemizygosity at the ELN locus was established by typing

13 otential functions of ARVCF, we suggest that hemizygosity at this locus may play a role in the etiolo

14 n and expression pattern of CLTD, we suggest hemizygosity at this locus may play a role in the etiolo

15 ouse models to test the hypothesis that HIC2 hemizygosity causes congenital heart disease.

16 ee exact algorithms for inferring regions of hemizygosity containing genomic deletions of all sizes a

17 Our results suggest that neither LIMK1 hemizygosity (contrary to a previous report) nor STX1A h

18 TNFRSF13B hemizygosity does not recapitulate autoimmune features o

19 Hemizygosity for a 1.5-3 Mb region of chromosome 22q11 h

20 Hemizygosity for a portion of chromosome 22q11 has been

21 ons or mutations confined to ELN showed that hemizygosity for elastin is responsible for the cardiolo

22 whether any of these defects are because of hemizygosity for ETS1 and FLI1, we characterized the phe

23 t in Jacobsen syndrome are likely because of hemizygosity for ETS1 and FLI1.

24 ession during development could suggest that hemizygosity for GSCL, in combination with hemizygosity

25 Hemizygosity for high copy-number alleles of R2d2 is ass

26 t hemizygosity for GSCL, in combination with hemizygosity for other genes in 22q11, contributes to so

27 ults in ovarian development and involves (1) hemizygosity for Tas, a gene located in the region of Ch

28 Typical deletions result in hemizygosity for TBX1 associated with congenital cardiov

29 Further, in mice, hemizygosity for Tek led to the formation of severely hy

30 ecessary for normal cardiac development, and hemizygosity for the normal allele can result in altered

31 oss of an entire chromosome 17, resulting in hemizygosity for the p53 locus on 17p and a missense p53

32 of a specific segment of the short arm PAR; hemizygosity for this putative locus probably also contr

33 Due to male hemizygosity, GCA for X-linked phenotypes must be due to

34 The sex-biased transmission of the Z and its hemizygosity in females can impact patterns of molecular

35 Here we compare the regions of hemizygosity in four patients with terminal deletions of

36 ve abnormalities, these data implicate LIMK1 hemizygosity in imparied visuospatial constructive cogni

37 portant target for sexual selection, because hemizygosity in males permits accumulation of alleles, c

38 ich molecular technologies can be applied to hemizygosity in males.

39 Thus, ELN hemizygosity in mice and humans induces a compensatory i

40 nomic clone containing ALX4 to 11p11.2, with hemizygosity in patients with deletion of 11p11.2 who ha

41 respect to chromosomal context may be due to hemizygosity in the male.

42 Hemizygosity in this region occurs in many malignancies,

43 le amyloid-beta (Abeta) also show that Abca1 hemizygosity increases Abeta deposition only in APP/E4/A

44 ty (contrary to a previous report) nor STX1A hemizygosity is likely to contribute to any part of the

45 gy, the distinction between homozygosity and hemizygosity is often ambiguous.

46 ur after reduction of chromosome 17p13.13 to hemizygosity, may result in cell cycle deregulation and

47 tolerate monoallelism and whether functional hemizygosity might provide an unappreciated advantage.

48 Finally, a hemizygosity modifier screen in the interspecies hybrids

49 In this study, Porcn hemizygosity occasionally caused ocular defects reminisc

50 t abnormalities, so that it is unlikely that hemizygosity of CDC45 alone is responsible for the cardi

51 n karyotypically normal cells by engineering hemizygosity of defined chr7q segments in a 20-Mb region

52 deleted individuals might be due to combined hemizygosity of DMRT1 and DMRT2.

53 We have shown that hemizygosity of elastin is responsible for one feature o

54 this model, embryos are null for Tbx1, with hemizygosity of genes in cis with Tbx1 on one chromosome

55 the functional defect of glucose transport: hemizygosity of GLUT1 and nonsense mutations resulting i

56 using approximately 28% and approximately 8% hemizygosity of the ancestral and derived X chromosomes,

57 Individuals with 3 Mb and nested 1.5 Mb hemizygosity of the chromosome 22q11.2 represent genetic

58 Heterozygous mutations or hemizygosity of the GLUT-1 gene cause Glut-1 DS.

59 Hemizygosity of the Lgdel region does not eliminate card

60 n the two chromosome sets and in part to the hemizygosity of the X chromosome in Drosophila males.

61 To accommodate hemizygosity of the X chromosome in male fruit flies, ex

62 e genetic screen that takes advantage of the hemizygosity of the X chromosome in males together with

63 Hemizygosity of the X could cause fundamentally differen

64 Thus, hemizygosity of the X may underlie much of the faster ma

65 Our findings confirm a robust effect of COMT hemizygosity on COMT activity and show complex interacti

66 nation, rather than asymmetrical sheltering, hemizygosity, or dosage compensation, is sufficient to a

67 ed by autozygosity, uniparental isodisomy or hemizygosity play a major role in defining HL risk in pr

68 FISH results support our hypotheses that hemizygosity, proximity to centromeric sequences, and ch

69 Consequently, Pten hemizygosity reduces apoptosis by 50%, accelerating prog

70 Examination of humans with ELN hemizygosity revealed a 2.5-fold increase in elastic lam

71 ct was less severe than that caused by mdf-1 hemizygosity, suggesting that MDF-1 causes the PGC arres

72 sis will allow application of the reciprocal hemizygosity test in many organisms.

73 The reciprocal hemizygosity test is a straightforward genetic test that

74 Shmt1 hemizygosity was associated with a decreased capacity fo

75 Shmt1 hemizygosity was associated with increased risk for inte