ライフサイエンスコーパス: locus heterogeneity

1 ng other congenital disorders featuring high locus heterogeneity.

2 ilibrium test (TDT) to one that accounts for locus heterogeneity.

3 s or exceeds 50%, suggesting the presence of locus heterogeneity.

4 is especially so in the presence of disease locus heterogeneity.

5 genetic component complicated by substantial locus heterogeneity.

6 on syndromic phenotypes characterized by low locus heterogeneity.

7 ena such as gene-environment interaction and locus heterogeneity.

8 subject to multiple modes of inheritance and locus heterogeneity.

9 NOGGIN locus, providing genetic evidence of locus heterogeneity.

10 icant LOD scores, indicating the presence of locus heterogeneity.

11 stically significant linkage under models of locus heterogeneity.

12 strated linkage to chromosome 1p13, with 78% locus heterogeneity.

13 demonstrate that there is probably extensive locus heterogeneity.

14 f related candidate genes in the presence of locus heterogeneity.

15 platelet dense granules, displays extensive locus heterogeneity.

16 nd by uncertainties concerning the extent of locus heterogeneity.

17 BBS) is an autosomal recessive disorder with locus heterogeneity.

18 these four families demonstrate allelic and locus heterogeneity.

19 lose to the results for the true model under locus heterogeneity.

20 into subgroups relative to suspected genetic locus heterogeneity.

21 additive traits involving phenocopies and/or locus heterogeneity.

22 romosome 4p, and it produced no evidence for locus heterogeneity.

23 se disorders, some of which display genetic (locus) heterogeneity.

24 factors such as case-control misassignment, locus heterogeneity, allele frequencies, and linkage dis

25 may result from a range of causes including locus heterogeneity, allelic heterogeneity, genetic and

26 e associated with only one form of clefting, locus heterogeneity also appears to be involved.

27 In the present study, we model locus heterogeneity among affected sib pairs with prosta

28 the TDT statistic (TDT-HET) that allows for locus heterogeneity among coded trios.

29 These results imply that there may be locus heterogeneity among human kindreds with selective

30 this study expand our understanding of SRPS locus heterogeneity and demonstrate the importance of DY

31 roach is robust to incomplete penetrance and locus heterogeneity and is applicable to a wide variety

32 t individuals with this disorder show marked locus heterogeneity, and we identify mutations in five s

33 Coloboma shows extensive locus heterogeneity associated with causative mutations

34 This expands the locus heterogeneity associated with epileptic encephalop

35 Locus heterogeneity at the HLA region suggests a distinc

36 t (CNV) data, these results indicate extreme locus heterogeneity but also provide a target for future

37 Locus heterogeneity characterizes a variety of skeletal

38 In addition, HPS most likely displays locus heterogeneity, consistent with the existence of se

39 at impair reproductive fitness and have high locus heterogeneity constitute a problem for gene discov

40 We conclude that considerable locus heterogeneity exists even within populations, whic

41 ients, and we present evidence that suggests locus heterogeneity for HPS.

42 In addition, evidence for locus heterogeneity has been provided by the identificat

43 Our data suggest the existence of locus heterogeneity in Aicardi-Goutieres syndrome and hi

44 The observed locus heterogeneity in autosomal dominant keloid disease

45 oriasis and implies that there may be within-locus heterogeneity in chromosomal regions involved in b

46 one on the development of methods to address locus heterogeneity in genetic association analysis.

47 These data establish locus heterogeneity in multiple-synostosis syndrome and

48 Our results provide further evidence for locus heterogeneity in type 1 VWD.

49 Locus heterogeneity is one of the most documented phenom

50 ication despite the combined complexities of locus heterogeneity, mixed models of transmission and fr

51 key parameters (background variation rates, locus heterogeneity, mode of inheritance, penetrance) on

52 udied, a two-locus threshold model and a two-locus heterogeneity model.

53 6 two-locus additive models; and (3) 16 two-locus heterogeneity models (admixture alpha = 1.0,.7,.5,

54 Although Hermansky-Pudlak syndrome exhibits locus heterogeneity, most patients have mutations in the

55 Due to the locus heterogeneity of human mutations predicted to resu

56 The intercross data reveal locus heterogeneity of the En1 modifiers, with more than

57 enomewide search is being conducted and that locus heterogeneity of the trait is likely.

58 ial congenital hydrocephalus and expands the locus heterogeneity of this condition.

59 autosomal dominant transmission demonstrates locus heterogeneity of this trait, with a multilocus lod

60 with polymorphic markers, suggesting either locus heterogeneity or a polygenic origin for Tourette s

61 ly, most analyses either fail to account for locus heterogeneity or attempt to account for it only by

62 Rejection of linkage may reflect locus heterogeneity or the confounding effects of sporad

63 4.20 under locus homogeneity (P=.000006) or locus heterogeneity (P=.000011).

64 class of disorders that are characterized by locus heterogeneity, particularly when studying disorder

65 f families with a common origin for reducing locus heterogeneity problems associated with studying co

66 uggest that these findings are likely due to locus heterogeneity rather than random statistical error

67 To address the cause of locus heterogeneity resulting in an indistinguishable he

68 Increasing locus heterogeneity results in rapid increases in sample

69 Simulation studies, assuming 50% locus heterogeneity, showed that these kindreds had 85%

70 The reasons for the difficulty may encompass locus heterogeneity, small effects and phenocopies, amon

71 ical development has been hindered by marked locus heterogeneity, small kindred sizes and diagnostic

72 For diseases with extensive locus heterogeneity, such as autism spectrum disorders (

73 The lack of any locus heterogeneity suggests that the major predisposing

74 ers at a time produced definite evidence for locus heterogeneity: the maximum multipoint LOD score un

75 TSC exhibits locus heterogeneity: the TSC2 gene is located at 16p13.3

76 The results strongly supported linkage with locus heterogeneity to a segment of 7q33-34, yielding a

77 There was clear evidence for genetic locus heterogeneity upon examination of ten additional f

78 Significant evidence for genetic locus heterogeneity was observed, with similar estimates

79 In an attempt to reduce locus heterogeneity, we performed a genomewide linkage s

80 nds with one mutant allele, and, looking for locus heterogeneity, we sequenced FZD4 and NDP in the se

81 Overall lod scores under the assumption of locus heterogeneity were between 1.20 and 1.40 at zero r

82 to the lack of consistency across studies is locus heterogeneity, which can weaken or even eliminate

83 proach but that dominant disorders with high locus heterogeneity will require large sample sizes.

84 There is clinical and locus heterogeneity with about two thirds of families li

85 Linkage studies have shown locus heterogeneity with one TSC gene mapped to chromoso

86 There was significant evidence for locus heterogeneity, with an estimate of 34% of the fami

87 AGS exhibits locus heterogeneity, with mutations identified in genes

88 egion of interest on 21q, thus demonstrating locus heterogeneity within the Bethlem myopathy classifi

89 Considerable locus heterogeneity within this population was suggested