Abstract
We present four families of IP in whom molecular studies established an unequivocal diagnosis in the affected daughters, and showed two mothers to be carriers, thus allowing accurate genetic counselling and prenatal diagnosis....
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PMID: 21537100
PDF is available here.
Abstract
Our results showed that introduction of HBV vaccination has resulted in a decline in the overall HBsAg positivity rate and a reduction in intrafamilial transmission in Korea, but further preventive measures for maternal intrafamilial transmission are needed....
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PMID: 19951454
PDF is available here.
Abstract
Biliary complications were the most common and feared complications in living donors. There were more frequent and severe complications for right and extended right lobe donation than for non-right lobe donation. The possible risks of donor morbidity for different graft types should be understood an...
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PMID: 20216482
PDF is available here.
Abstract
Urinary incontinence is a complex problem, and worldwide millions of people are affected. How the affected persons and their related caregivers experience and arrange their day-to-day lives has hardly been studied. This was the motive for a two-and-a-half-year study in the German-speaking region. In...
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PMID: 20509111
PDF is available here.
Abstract
The mGJA8 gene and wGJA8 gene are cloned successfully, and pEGFP-N1-mGJA8 and pEGFP-N1-mGJA8 fusion protein can be expressed in COS7 cells, which establish the foundation for further studying the mechanism of this congenital inherited nuclear cataract family....
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PMID: 20646529
PDF is available here.
Ryan McDaniell,
Bum-Kyu Lee,
Lingyun Song,
Zheng Liu,
Alan P Boyle,
Michael R Erdos,
Laura J Scott,
Mario A Morken,
Katerina S Kucera,
Anna Battenhouse,
Damian Keefe,
Francis S Collins,
Huntington F Willard,
Jason D Lieb,
Terrence S Furey,
Gregory E Crawford,
Vishwanath R Iyer and
Ewan Birney
Abstract
We cataloged both individual-to-individual variation and differences between homologous chromosomes within the same individual (allele-specific variation) in chromatin structure and transcription factor binding in lymphoblastoid cells derived from individuals of geographically diverse ancestry. Ten...
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PMID: 20299549
PDF is available here.
Abstract
We questioned whether the evidence for the genetic component in Parkinson's disease (PD) in Caucasians could be explained by the causative and susceptibility genes that have already been identified. We estimated heritability of risk and age at onset of PD in a well-characterized sample of 504 nuclea...
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PMID: 20203693
PDF is available here.
Abstract
We evaluated 223 donors among whom 142 were excluded in various phases. The data were statistically evaluated. Among the 142 excluded donors, 113 (79.6%) had an adult recipient. The elimination rates for adult recipients were as follows: 68 cases in phase I, 41 cases in phase II, and 4 cases in phas...
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PMID: 20304156
PDF is available here.
Abstract
We encountered 2 dyadic suicides among fathers and sons. In the first dyad, the father was a 64-year-old man with complications of heart surgery. He committed suicide with a shotgun. The decedent's son was a 38-year-old man. Five years after his father's death, the son had an argument with his wife....
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PMID: 19935393
PDF is available here.
Abstract
In filial caregiving, women typically provide more care than men. The numerical predominance of female caregivers has been explained such that diversity among male caregivers has been overlooked. That is, "internalist" explanations, which emphasize the differing socialization experience of females a...
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PMID: 20202266
PDF is available here.
Abstract
We conclude that despite markedly different historical life course experiences and acculturation processes, both generations continue to regard filial obligation as important. These findings are discussed with respect to implications for social support exchanges given a continued valuation of filial...
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PMID: 20202267
PDF is available here.
Abstract
Parents with higher consideration of future consequences generated more positive relative to negative thoughts, held more positive attitudes, higher response efficacy, reported higher anticipated regret about not vaccinating their daughters and held more positive intentions. Mediation analyses sugge...
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PMID: 19402950
PDF is available here.
Abstract
We propose two designs, sibpair and unrelated-case designs, to detect rare genetic variants in either a candidate gene-based or genome-wide association analysis. First we show that we can detect and classify together rare risk haplotypes using a relatively small sample with either of these designs,...
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PMID: 19847924
PDF is available here.
Abstract
We propose two designs, sibpair and unrelated-case designs, to detect rare genetic variants in either a candidate gene-based or genome-wide association analysis. First we show that we can detect and classify together rare risk haplotypes using a relatively small sample with either of these designs,...
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PMID: 19847924
PDF is available here.
Abstract
We propose two designs, sibpair and unrelated-case designs, to detect rare genetic variants in either a candidate gene-based or genome-wide association analysis. First we show that we can detect and classify together rare risk haplotypes using a relatively small sample with either of these designs,...
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PMID: 19847924
PDF is available here.
Abstract
We propose two designs, sibpair and unrelated-case designs, to detect rare genetic variants in either a candidate gene-based or genome-wide association analysis. First we show that we can detect and classify together rare risk haplotypes using a relatively small sample with either of these designs,...
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PMID: 19847924
PDF is available here.
Abstract
We propose two designs, sibpair and unrelated-case designs, to detect rare genetic variants in either a candidate gene-based or genome-wide association analysis. First we show that we can detect and classify together rare risk haplotypes using a relatively small sample with either of these designs,...
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PMID: 19847924
PDF is available here.
Abstract
We propose two designs, sibpair and unrelated-case designs, to detect rare genetic variants in either a candidate gene-based or genome-wide association analysis. First we show that we can detect and classify together rare risk haplotypes using a relatively small sample with either of these designs,...
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PMID: 19847924
PDF is available here.
Abstract
We propose two designs, sibpair and unrelated-case designs, to detect rare genetic variants in either a candidate gene-based or genome-wide association analysis. First we show that we can detect and classify together rare risk haplotypes using a relatively small sample with either of these designs,...
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PMID: 19847924
PDF is available here.
Abstract
We propose two designs, sibpair and unrelated-case designs, to detect rare genetic variants in either a candidate gene-based or genome-wide association analysis. First we show that we can detect and classify together rare risk haplotypes using a relatively small sample with either of these designs,...
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PMID: 19847924
PDF is available here.
Abstract
We propose two designs, sibpair and unrelated-case designs, to detect rare genetic variants in either a candidate gene-based or genome-wide association analysis. First we show that we can detect and classify together rare risk haplotypes using a relatively small sample with either of these designs,...
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PMID: 19847924
PDF is available here.
Abstract
We propose two designs, sibpair and unrelated-case designs, to detect rare genetic variants in either a candidate gene-based or genome-wide association analysis. First we show that we can detect and classify together rare risk haplotypes using a relatively small sample with either of these designs,...
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PMID: 19847924
PDF is available here.
Abstract
We are living in a permanently changing society has created a context in which parents feel that they no longer "know" what is good or bad for their children. On this view, parents need to learn how to manage their parenthood. Vansieleghem questions the need for expertise and advice that is characte...
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PMID: 20662171
PDF is available here.
Abstract
We propose methods for age at onset genetic linkage analysis in sibling pairs, taking into account parental age at onset.
Two new score statistics are derived, one from an additive gamma frailty model and one from a log-normal frailty model. The score statistics are classical non-parametric linkage...
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PMID: 19996606
PDF is available here.
Abstract
We evaluate approaches to determine how much of the observed linkage evidence, namely the identity-by-descent (IBD) sharing at the linkage peak, is explained by associated SNPs. We study several methods: Homozygote Sharing Tests (HST), Genotype Identity-by-Descent Sharing Test (GIST), and a permutat...
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PMID: 19996608
PDF is available here.
Abstract
Frank Furstenberg examines how the newly extended timetable for entering adulthood is affecting, and being affected by, the institution of the Western, particularly the American, family. He reviews a growing body of research on the family life of young adults and their parents and draws out importan...
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PMID: 20364622
PDF is available here.
Abstract
Teething symptoms were highly reported in this population. Pediatric dentists should be accessible and provide adequate orientation when symptoms can be managed at home or immediate referral to health services when more serious diseases are suspected....
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PMID: 20578655
PDF is available here.
Abstract
Existing theory has identified the capacity of political revolutions to effect change in a variety of social institutions, although relationships between revolution and many institutions remain unexplored. Using historical data from twenty-two European and four diaspora countries, the author examine...
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PMID: 19999826
PDF is available here.
Abstract
The aims of this study were (a) to locate the breakpoints of a balanced translocation (7;13) within a mother (B) and daughter (T); (b) to describe the language and cognitive skills of B and T; and (c) to compare this profile with affected family members of the KE family who have a mutation within FOX...
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PMID: 19797137
PDF is available here.
Abstract
We report on two mother-daughter pairs, heterozygous for 3q29, and review clinical features of all known affected individuals. Del 3q29 syndrome is associated with nonspecific clinical features, including mild-to-moderate developmental delay, microcephaly, and mild facial dysmorphisms such as short...
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PMID: 19610115
PDF is available here.
Abstract
We report on an 18-month-old girl with typical findings suggestive of NS in combination with multiple café-au-lait spots and bilateral optic gliomas suggestive of NF1. The patient was found to carry a de novo PTPN11 mutation p.T2I as well as the maternally inherited NF1 mutation c.4661+1G>C. Her ot...
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PMID: 19449407
PDF is available here.
Abstract
AIM: To determine the association of three SNPs, IRF6 G820A, MTHFR C677T, and MTHFR A1298C, with nonsyndromic cleft lip with or without cleft palate (NSCL/P) in an Indian population. METHOD: A total of 323 NSCL/P patients, 116 of their mothers, 108 of their fathers, and 214 normal controls have been...
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PMID: 19419265
PDF is available here.
Abstract
We asked for gender and date of birth of the child, monthly flying hours during the 4 months before conception, and the type of aircraft flown. Analysis revealed that the sex ratio of offspring from all participants in our study was not statistically significantly different from the general populati...
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PMID: 20731285
PDF is available here.
Abstract
We worked with a non-probabilistic sample of 140 women from Monterrey, N.L, Mexico, 107 are from bi-parent families and 33 from single parent families. Some of the results show that women from single-parent families have lower quality of life (Z = -2.224, p = .026), lower income (Z = -2.727, p = .00...
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PMID: 19476230
PDF is available here.
Abstract
Data on female genital cutting are presented from 1942 women aged 15–49 years in Amhara region, Ethiopia, 2005. Reportedly 69% (1333/1942) had undergone the procedure. Rates showed a secular decline, decreasing from 77% in women aged 45–49 years old to 59% in those age 15–24 years. Of women wit...
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PMID: 19326265
PDF is available here.
Abstract
Sixth-grade students in schools with large minority populations have high levels of risk factors for type 2 diabetes. The HEALTHY intervention was designed to modify these risk factors to reduce diabetes incidence....
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PMID: 19196888
PDF is available here.
Abstract
Our findings indicate that maternal type 1 diabetes is not an independent risk factor for overweight during childhood in offspring of type 1 diabetic mothers but that factors associated with maternal type 1 diabetes, such as short breast-feeding duration and high birth size, predispose children to o...
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PMID: 19228867
PDF is available here.
Abstract
The majority of subjects diagnosed with type 1 diabetes through the DPT-1 were asymptomatic at onset and had normal fasting glucose and A1C levels. This suggests that intermittent screening (IA followed by OGTT) may allow diagnosis of diabetes before severe metabolic decompensation. Screening with A...
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PMID: 19407074
PDF is available here.
Abstract
For systolic BP (SBP), correlation values were low to moderate (0.21< or = r < or =0.35); for diastolic BP (DBP) values were found to be moderate (0.24< or = r < or =0. 50). Genetic factors explain 43 and 49% of the total variation in SBP and DBP, respectively. CONCLUSION: A moderate amount of the S...
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PMID: 19390708
PDF is available here.
Abstract
Independent of urinary sodium excretion, South Africans (n = 240) had higher RNaprox (unadjusted median, 93.9% vs. 81.0%; P < 0.001) than Belgians (n = 737), but lower RNadist (91.2% vs. 95.1%; P < 0.001). The slope of RNaprox on FENa was steeper in Belgians than in South Africans (-5.40 +/- 0.58 vs...
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PMID: 19262228
PDF is available here.
Abstract
LL grafting should be considered favorably when selecting donors for adult-to-adult living donor liver transplantation....
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PMID: 19202452
PDF is available here.
Abstract
Research has indicated that children as young as age 5 begin to demonstrate preoccupation with body image and weight, with the desire to be thin. Much of this preoccupation is influenced by increased public awareness of the obesity epidemic, which in turn has placed extreme pressures on school-age c...
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PMID: 19266972
PDF is available here.
Abstract
We firstly develop a new test statistic 1-PAT to test for parent-of-origin effects in the presence of association between an allele at the marker locus under study and a disease gene. Then we extend the PAT to accommodate complete nuclear families each with one or more affected children. Combining f...
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PMID: 18931505
PDF is available here.
Abstract
A missense mutation was the predominant type, and common or founder mutations were not observed in the Korean patients in this study who had XLRS. This study provides molecular genetic characteristics about an Asian population previously unexplored. The genetic characteristics of Korean XLRS will be...
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PMID: 19390641
PDF is available here.
Abstract
We failed to identify an association with the val66 allele in BDNF (OR = 1.23, p = 0.36), the COMT-l allele (OR = 1.27, p = 0.1), or the HTTLPR short allele (OR = 0.87, p = 0.38). CONCLUSION: Our study suggests that the markers examined thus far in COMT and SLC6A4 are not associated with pediatric b...
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PMID: 19193231
PDF is available here.
Abstract
We described TSC in a family at a mother and her daughter. We emphasized the importance of Computed Tomography in the discovery of some asymptomatic organic involvement as bilateral renal angiolipoma in the mother....
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PMID: 19221657
PDF is available here.
Abstract
The authors present characteristics of Parental Alienation Syndrome (PAS) proposed by Gardner as well as data, which may help to differentiate that syndrome with real psychological, physical and sexual abuse. The consequences of Gardner Syndrome for legal decisions in the court cases of child custod...
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PMID: 19694396
PDF is available here.
Abstract
For the present donor, graft donation did not affect his residual renal function. Preexisting membranous nephropathy itself may show remission after transplantation into the recipient to achieve successful results, however, long-term careful observation of both the donor and recipient is required....
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PMID: 19249577
PDF is available here.
Abstract
The patients differed by age, gender, severity of hypercholesterolemia, clinical symptoms. Half of PHCE patients had myocardial infarction, 18% had angina pectoris, 29% cerebrovascular events. The disease was asymptomatic in 19% FHCE patients, 33% had myocardial infarction, 15%--angina pectoris, 12%...
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PMID: 19253714
PDF is available here.
Abstract
Domestic violence affects all members in a family and children are considered the main victims. This qualitative study aimed to grasp the perception of mothers whose daughters were sexually abused. Data were collected between February and March 2007 in a governmental facility in Fortaleza-CE, Brazil...
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PMID: 19820857
PDF is available here.