ライフサイエンスコーパス: consanguinity

1 isorders and that were enriched for parental consanguinity.

2 burials in Spain, which shows high levels of consanguinity.

3 xtended Iranian families with high degree of consanguinity.

4 n of Pakistani origin could be attributed to consanguinity.

5 ded if they had a family history of parental consanguinity.

6 sity in some individuals reflect substantial consanguinity.

7 fication of candidate genes in families with consanguinity.

8 and above that predicted by simple models of consanguinity.

9 g loss in the population was attributable to consanguinity.

10 f cognitive impairment, or family history of consanguinity.

11 om a large French-Canadian family with known consanguinity.

12 osomes suggested this finding was not due to consanguinity.

13 atures, syndromic presentation, and parental consanguinity.

14 ng in commensal populations is mostly due to consanguinity.

15 high homozygosity within countries with low consanguinity.

16 e cohort under-represents the true levels of consanguinity.

17 ns for global populations with high rates of consanguinity.

18 impacting disease risk due to a high rate of consanguinity.

19 pipelines in populations with high rates of consanguinity.

20 s demonstrated a marked increase of parental consanguinity (63%), compared with the general Iranian p

21 yield was higher for probands with reported consanguinity (76.3%; 95% CI, 65.1%-86.1%; I2 = 0) than

22 cted individuals from 28 unrelated families (consanguinity 93%) with bi-allelic pathogenic, predomina

23 We estimated that autozygosity due to consanguinity accounts for 5%-18% of T2D cases among Bri

24 ngladeshi individuals with elevated rates of consanguinity and endogamy, making it suitable to study

25 amilies enriched for inherited causes due to consanguinity and find familial ASD associated with bial

26 We investigate the effects of consanguinity and population substructure on genetic hea

27 nfirm and understand the association between consanguinity and serious cognitive disability.

28 They had parental consanguinity and similarly affected, deceased siblings,

29 1.2 x 10-11) and with overlapping age, sex, consanguinity, and ethnicity characteristics.

30 The specific genetic diagnosis, consanguinity, and severe clinical course are associated

31 accounting for the effects of migration and consanguinity, and with population structure and genetic

32 that in small populations with high rates of consanguinity, as compared with large outbred population

33 Along with the effects of gene drift and consanguinity, assortative mating also may have played a

34 However, these effects are not the result of consanguinity but rather elevated background identity by

35 SNP genotyping identified unknown ancestral consanguinity by detecting three autozygous regions.

36 dence that this is explained by first-cousin consanguinity, despite a reported social preference for

37 s found in a large Lebanese family with high consanguinity, drastically inhibited this interaction by

38 ffect the owner but also affects their close consanguinity due to its hereditary nature.

39 lower in families with the highest degree of consanguinity, due to the high number of homozygous vari

40 with early-onset parkinsonism and confirmed consanguinity followed by data mining in the exomes of 1

41 kistani families with documented or probable consanguinity, from the city of Lahore and surrounding a

42 iversity, high fertility rates and prevalent consanguinity, genetic research remains under-explored.

43 rts, often in populations with high rates of consanguinity, have established a general phenotype, the

44 Our family studies show a high degree of consanguinity, highlighting the increased risk of iron o

45 Because of consanguinity in both families, we used whole-exome sequ

46 ited in 30%, and almost 60% had a history of consanguinity in both groups.

47 istani population has focused on the role of consanguinity in increasing recessive disease risk, but

48 with a minimum of two affected offspring and consanguinity in most of the parental generation and map

49 IRDs likely due to the highest prevalence of consanguinity in the country that leads to expression of

50 regions in the genome may indicate levels of consanguinity in the individual's family lineage.

51 hy in a 16 year-old child with no history of consanguinity in the parents revealed a sickle S trait a

52 ations were homozygous recessive, reflecting consanguinity in these families.

53 he mutation profile attests to the impact of consanguinity in these families.

54 .9% of patients, reflecting the high rate of consanguinity in this cohort.

55 The absence of consanguinity indicates that this society maintained a d

56 Consanguinity is a major risk factor for congenital anom

57 Consanguinity is a serious concern that leads to the hig

58 n in the Middle East and North Africa, where consanguinity is common often resulting in identical mut

59 developed countries, where the prevalence of consanguinity is high in many areas, and both genetic an

60 Parental consanguinity is present in three families.

61 that autozygosity (a genomic consequence of consanguinity) may be a factor in cancer predisposition.

62 Despite an absence of any history of consanguinity, microsatellite analysis showed shared gen

63 median age at diagnosis was 24 months, with consanguinity noted in 76% of cases.

64 ntral canal area, we took advantage of close consanguinity of C57Bl/6J substrain with normal CSF-cN d

65 e results, however, were not consistent with consanguinity of the parents, who appear to have indepen

66 ssive (n=117, 81%), consistent with the high consanguinity of the study cohort, but also X-linked (n=

67 ents dealing with the deleterious effects of consanguinity on recessive disorders and consider how ot

68 The influence of consanguinity on the genetics of cardiomyopathy has not

69 Our work demonstrates the impact of consanguinity on the genetics of childhood-onset cardiom

70 In rural areas, consanguinity (OR = 15.13, 95% CI: 3.08, 74.30) and land

71 Consanguinity (or inbreeding) refers to the offspring of

72 ms, had a familial history of the disease or consanguinity, or had a congenital onset were excluded.

73 works of distant relatedness show absence of consanguinity, patrilineal pattern with female exogamy,

74 fine-scale population structure, history and consanguinity patterns using genotype chip data from 2,2

75 lenecks) and recent ancestry events (such as consanguinity) play an important role in patterning vari

76 y descent as the result of processes such as consanguinity, population size reduction, and natural se

77 c subgroups, country-of-residence influences consanguinity proportions, with Indian subgroups showing

78 In Pakistan, consanguinity rates are notably high.

79 Measured consanguinity rates were an order of magnitude above tho

80 ly covered by public databases and have high consanguinity rates.

81 al prelingual HI in five countries with high consanguinity rates: Tunisia, Jordan, Algeria, Morocco,

82 arious pedigree structures, with and without consanguinity relationship, and allows missing alleles t

83 Pedigree studies also suggest that consanguinity results in increased childhood mortality a

84 iatric organ donor, factors such as parental consanguinity should prompt physicians to acknowledge th

85 Familial occurrence and consanguinity suggest autosomal recessive inheritance of

86 As parental consanguinity suggested an autosomal recessive mode of i

87 single sibships, as well as the presence of consanguinity, support an autosomal recessive mode of in

88 nset of symptoms, family history, history of consanguinity, symptoms, age at diagnosis, BCVA at basel

89 portions, with Indian subgroups showing more consanguinity than their counterparts in other countries

90 We found that despite the high levels of consanguinity that characterize UAE, this population is

91 ates of reproductive isolation, endogamy and consanguinity that vary across the subcontinent and that

92 prevalence in populations with high rates of consanguinity, then determining whether disease cases ar

93 n that among populations with a high rate of consanguinity, there is a significant increase in the pr

94 Several studies link consanguinity to higher rates of cancer, suggesting that

95 plex MS families, six of which with parental consanguinity, to identify genetic factors that increase

96 re of HCM in North African cohorts with high consanguinity using ancestry-matched cases and controls.

97 The tradition of consanguinity, variably practiced in the Persian Gulf re

98 Consanguinity was associated with a doubling of risk for

99 Empirically testing for ancestral consanguinity was effective in localizing the causative

100 Parental consanguinity was noted in 11 children (31.4%).

101 Parental consanguinity was noted in 3.4% cases.

102 searching for evidence of unknown ancestral consanguinity, we identified two autozygous intervals, c

103 icient severe combined immunodeficiency, and consanguinity were associated with worse outcome but tha

104 Four patients from families with parental consanguinity were subjected to homozygosity mapping tha

105 ity (ID) in countries with frequent parental consanguinity, which account for about 1/7th of the worl

106 rt a patient of Indian descent with parental consanguinity, who developed 10 carcinomas and 35 adenom