Genomes and Genes
Summary: A family composed of spouses and their children.
- Dupuy B, Stenersen M, Egeland T, Olaisen B. Y-chromosomal microsatellite mutation rates: differences in mutation rate between and within loci. Hum Mutat. 2004;23:117-24 pubmed..Our study has thus demonstrated the necessity of not only locus-specific, but even allele-specific, mutation rate estimates for forensic and population genetic purposes, and provides a considerable basis for such estimates. ..
- Hauser E, Watanabe R, Duren W, Bass M, Langefeld C, Boehnke M. Ordered subset analysis in genetic linkage mapping of complex traits. Genet Epidemiol. 2004;27:53-63 pubmed..We illustrate this method by analyzing data on breast cancer age of onset and chromosome 17q [Hall et al., 1990, Science 250:1684-1689]. We evaluate OSA using simulation studies under a variety of genetic models. ..
- Pouta A, Jarvelin M, Hemminki E, Sovio U, Hartikainen A. Mothers and daughters: intergenerational patterns of reproduction. Eur J Public Health. 2005;15:195-9 pubmed..004). The analysis of the age-matched mother-daughter pairs gave similar results. A positive association between mothers and daughters in menarcheal age, parity and desirability of pregnancy was found. ..
- Zhang Z, He J, Qin Y, Hu Y, Li M, Liu Y, et al. Association between SNP and haplotypes in PPARGC1 and adiponectin genes and bone mineral density in Chinese nuclear families. Acta Pharmacol Sin. 2007;28:287-95 pubmed..Confirmation of our results is needed in other populations and with more functional markers within and flanking the PPARGC1 or adiponectin genes region. ..
- El Gilany A, Shady E. Determinants and causes of son preference among women delivering in Mansoura, Egypt. East Mediterr Health J. 2007;13:119-28 pubmed..Achievement of the desired sex, whether son or daughter, was associated with less desire for more children, intention to prolong pregnancy spacing and intention to use contraceptives. ..
- Becker T, Knapp M. Maximum-likelihood estimation of haplotype frequencies in nuclear families. Genet Epidemiol. 2004;27:21-32 pubmed..We conclude from the simulations that the accuracy of haplotype frequency estimation and reconstruction in nuclear families is very reliable in general and robust against missing genotypes. ..
- Qian D. Haplotype sharing correlation analysis using family data: a comparison with family-based association test in the presence of allelic heterogeneity. Genet Epidemiol. 2004;27:43-52 pubmed..These simulation results suggest that the HSC method has the capacity to identify true disease-associated segments under allelic heterogeneity that go undetected by the FBAT method that compares allelic or haplotypic frequencies. ..
- Lin S, Chakravarti A, Cutler D. Haplotype and missing data inference in nuclear families. Genome Res. 2004;14:1624-32 pubmed..Furthermore, our algorithm can estimate allelic status for missing data at high accuracy (>95%). Finally, the input capacity of the program is vast, easily handling thousands of segregating sites in > or = 1000 chromosomes. ..
- Zhang Z, He J, Qin Y, Hu Y, Li M, Zhang H, et al. Association between myostatin gene polymorphisms and peak BMD variation in Chinese nuclear families. Osteoporos Int. 2008;19:39-47 pubmed..These results suggest, for the first time, the genetic polymorphisms in myostatin likely play a role in attainment of peak BMD in Chinese women. ..
- Guo Y, Xiong D, Shen H, Zhao L, Xiao P, Guo Y, et al. Polymorphisms of the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with obesity phenotypes in a large family-based association study. J Med Genet. 2006;43:798-803 pubmed..We hypothesise that such an association may be due to the role of LRP5 in the WNT signalling pathway or lipid metabolism. Further functional studies are needed to elucidate the exact molecular mechanism underlying our finding. ..
- Hermann R, Lipponen K, Kiviniemi M, Kakko T, Veijola R, Simell O, et al. Lymphoid tyrosine phosphatase (LYP/PTPN22) Arg620Trp variant regulates insulin autoimmunity and progression to type 1 diabetes. Diabetologia. 2006;49:1198-208 pubmed..Importantly, it strongly affects progression from prediabetes to clinical disease. ..
- Smyth D, Cooper J, Collins J, Heward J, Franklyn J, Howson J, et al. Replication of an association between the lymphoid tyrosine phosphatase locus (LYP/PTPN22) with type 1 diabetes, and evidence for its role as a general autoimmunity locus. Diabetes. 2004;53:3020-3 pubmed..24 x 10(-4); OR 1.43 [95% CI 1.17-1.76]). Taken together, these results indicate a more general association of the PTPN22 locus with autoimmune disease. ..
- Li C, Boehnke M. Haplotype association analysis for late onset diseases using nuclear family data. Genet Epidemiol. 2006;30:220-30 pubmed..We describe likelihood ratio and permutation tests to test for disease-haplotype association, and describe three test statistics that are potentially useful for detecting such an association. ..
- Barrett A, Turner R. Family structure and substance use problems in adolescence and early adulthood: examining explanations for the relationship. Addiction. 2006;101:109-20 pubmed
- Updegraff K, Perez Brena N, UMANA TAYLOR A, Jahromi L, Harvey Mendoza E. Mothers' trajectories of depressive symptoms across Mexican-origin adolescent daughters' transition to parenthood. J Fam Psychol. 2013;27:376-86 pubmed publisher..Findings point to the need to identify mothers who are at risk for depressive symptoms during their adolescent daughters' pregnancy and offer prevention and intervention programs that reduce risks and enhance protective factors. ..
- Nagashima Y, Furuya M, Gotohda H, Takagi S, Hes O, Michal M, et al. FLCN gene-mutated renal cell neoplasms: mother and daughter cases with a novel germline mutation. Int J Urol. 2012;19:468-70 pubmed publisher..H111_Q116del), predicting an alteration of the amino acid sequence of "HPSHPQ" replaced by a single amino acid, "L". This is a novel germline mutation of the FCLN gene that has not been previously reported. ..
- Hunt G, Fazio A, MacKenzie K, Moloney M. Food in the family. Bringing young people back in. Appetite. 2011;56:394-402 pubmed publisher..young women value family meals, although there are significant obstacles to eating regularly with the entire nuclear family. Many of these young women play an important role in the purchasing and preparation of food for family members ..
- Latalski M, Kuzaka R, Fatyga M, Bylina J, Trzpis T, Jarosz M, et al. Change of situation of a family with a child treated due to scoliosis. Ann Agric Environ Med. 2012;19:780-6 pubmed..The enrolment of a psychologist into the treatment team should be considered, which would provide support for the parents of children suffering from scoliosis. ..
- Verloop J, van Leeuwen F, Helmerhorst T, van Boven H, Rookus M. Cancer risk in DES daughters. Cancer Causes Control. 2010;21:999-1007 pubmed publisher..We examined long-term risk of cancer in women exposed to diethylstilbestrol (DES) in utero...
- Kobayashi K, Funk L. Of the family tree: congruence on filial obligation between older parents and adult children in Japanese Canadian families. Can J Aging. 2010;29:85-96 pubmed publisher..These findings are discussed with respect to implications for social support exchanges given a continued valuation of filial obligation in Asian post-immigrant (North American-born) and immigrant families. ..
- Gunduz T, Karbeyaz K, Ayranci U. Evaluation of the adjudicated incest cases in Turkey: difficulties in notification of incestuous relationships. J Forensic Sci. 2011;56:438-43 pubmed publisher..the cases where the victim and perpetrator lived in the same house, the accused were generally members of the nuclear family (p<0.001)...
- Niehaus I. Maternal incest as moral panic: envisioning futures without fathers in the South African lowveld. J South Afr Stud. 2010;36:833-49 pubmed publisher..As such the rumours envision a dystopia marked by the 'death of the father' and chaotic disorder without morality and law. ..
- Huber C, Oulès B, Bertoli M, Chami M, Fradin M, Alanay Y, et al. Identification of CANT1 mutations in Desbuquois dysplasia. Am J Hum Genet. 2009;85:706-10 pubmed publisher..We also found electron-dense material within distended rough endoplasmic reticulum in the fibroblasts of Desbuquois patients. Our findings demonstrate the specific involvement of a nucleotidase in the endochondral ossification process. ..
- Ferraro A, Cardoso V, Barbosa A, da Silva A, Faria C, De Ribeiro V, et al. Childbearing in adolescence: intergenerational dejà-vu? Evidence from a Brazilian birth cohort. BMC Pregnancy Childbirth. 2013;13:149 pubmed publisher..35 (95% CI 1.04-1.74). Adolescent childbearing in the 1st generation was a predictor of adolescent childbearing in the 2nd, regardless of socioeconomic factors determined at different points in lifetime. ..
- Shi M, Umbach D, Weinberg C. Family-based gene-by-environment interaction studies: revelations and remedies. Epidemiology. 2011;22:400-7 pubmed publisher..We also use simulations to assess the power for detecting interaction across a range of scenarios, designs, and analytic methods. ..
- Lane A. The nature of tri-allelic TPOX genotypes in African populations. Forensic Sci Int Genet. 2008;2:134-7 pubmed publisher..These occurrences suggest that the variant existed before the start of the Bantu expansion from central West Africa into Southern Africa. ..
- Maggi R, Ericson M, Mascarelli P, Bradley J, Breitschwerdt E. Bartonella henselae bacteremia in a mother and son potentially associated with tick exposure. Parasit Vectors. 2013;6:101 pubmed publisher..henselae organism has been visualized in and amplified from a striae lesion. As the tick bites occurred three years prior to documentation of B. henselae bacteremia, the mode of transmission could not be determined. ..
- Lefevere E, Hens N, Theeten H, van den Bosch K, Beutels P, De Smet F, et al. Like mother, like daughter? Mother's history of cervical cancer screening and daughter's Human Papillomavirus vaccine uptake in Flanders (Belgium). Vaccine. 2011;29:8390-6 pubmed publisher..0, 95% [CI]=3.6-10.1). In a situation where both cervical cancer screening and HPV vaccination are opportunistic, we found evidence that these preventive behaviors cluster within families. ..
- Tabak I, Oblacinska A, Jodkowska M, Mikiel Kostyra K. [Changes in structure and socioeconomic position of the family as determinants of overweight in adolescents]. Pediatr Endocrinol Diabetes Metab. 2012;18:70-5 pubmed..Unfavorable changes in family economic status and structure are the strongest redictors of overweight in 13-year-olds. ..
- Miller P, Hargreaves J, Curtis A, Zinkiewicz L. The association between an abusive father-son relationship, quantity of alcohol consumption, and male-to-male alcohol-related aggression. Alcohol Clin Exp Res. 2013;37:1571-6 pubmed publisher..Negative father-son relationships may play a role in fostering young men's perpetration of MMARA in the barroom context. ..
- Pipolo T. Pasolini's Edipo Re: myth, play, and autobiography. Psychoanal Rev. 2013;100:589-608 pubmed publisher..This analysis is followed by speculations on the implications of the film's structure and techniques and on what they reveal about Pasolini's character, his sexual profile, and the ignominious murder that ended his life. ..
- ThÃ¸gersen Ntoumani C, Ng J, Ntoumanis N, Chatzisarantis N, Vlachopoulos S, Katartzi E, et al. 'Mum's the word': Predictors and outcomes of weight concerns in pre-adolescent and early adolescent girls. Body Image. 2016;16:107-12 pubmed publisher..Daughters' concerns with their weight were a strong predictor of eating restraint, but not exercise behavior. ..
- Czajkowski N, Røysamb E, Reichborn Kjennerud T, Tambs K. A population based family study of symptoms of anxiety and depression: the HUNT study. J Affect Disord. 2010;125:355-60 pubmed publisher..the heritability of self-reported symptoms of anxiety and depression in a large and population representative nuclear family sample...
- Chien C, Wang H, Chiang Y, Chu S, Liu H, Liu K. Quality of life after laparoscopic donor nephrectomy. Transplant Proc. 2010;42:696-8 pubmed publisher..This study revealed that kidney donation had negative impacts on donor QoL after LDN although renal function was well preserved. The QoL of a potential living donor must be evaluated carefully before transplantation. ..
- Bailey A. How personal is the political? Democratic revolution and fertility decline. J Fam Hist. 2009;34:407-25 pubmed..Results demonstrate that popular democratic revolutions -- but not institutionalized democratic structures -- predict the timing of the onset of fertility decline. ..
- van Genderen M, Bijveld M, Claassen Y, Florijn R, Pearring J, Meire F, et al. Mutations in TRPM1 are a common cause of complete congenital stationary night blindness. Am J Hum Genet. 2009;85:730-6 pubmed publisher..These results add to the growing importance of the diverse group of TRP channels in human disease and also provide new insights into retinal circuitry...
- Terry M, Flom J, Tehranifar P, Susser E. The role of birth cohorts in studies of adult health: the New York women's birth cohort. Paediatr Perinat Epidemiol. 2009;23:431-45 pubmed publisher..Understanding the factors that are associated with tracing and participation in these existing cohorts will help in interpreting the validity and generalisability of the findings from these invaluable cohorts. ..
- Zhou J, Hu Y, Lin S, Fung W. Detection of parent-of-origin effects based on complete and incomplete nuclear families with multiple affected children. Hum Hered. 2009;67:1-12 pubmed publisher..Additional power comparison also demonstrates that the C-PAT is more powerful than a number of other tests for detecting parent-of-origin effects. ..
- Thakur S, Puri R, Kohli S, Saxena R, Verma I. Utility of molecular studies in incontinentia pigmenti patients. Indian J Med Res. 2011;133:442-5 pubmed..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. ..
- Kitamura K. [Adult mother-daughter relationships and psychological well-being: attachment to mothers, depressive symptoms, and self-esteem]. Shinrigaku Kenkyu. 2008;79:116-24 pubmed
- Miller M, Ruzek S, Bass S, Gordon T, Ducette J. Why fathers are too important to ignore: communication about sexuality between fathers and daughters. Holist Nurs Pract. 2013;27:89-97 pubmed publisher..These differences indicate that interventions may be needed to increase fathers' comfort with sexual communication. ..
- Choi H, Van Riper M. Siblings of children with Down syndrome: an integrative review. MCN Am J Matern Child Nurs. 2013;38:72-8 pubmed publisher..Healthcare providers can also recognize siblings at increased risk for experiencing difficulties adapting and can initiate preventive strategies by understanding nonmodifiable factors. ..
- Altincik A, Kaname T, Demir K, Bober E. A novel mutation in a mother and a son with Aarskog-Scott syndrome. J Pediatr Endocrinol Metab. 2013;26:385-8 pubmed publisher..Mutational analyses revealed a novel mutation (c.308-2G), hemizygous in the boy and heterozygous in the mother. Aarskog syndrome (faciogenital dysplasia) should be kept in mind in children with short stature and interdigital webbing. ..
- Kvestad E, Czajkowski N, Engdahl B, Hoffman H, Tambs K. Low heritability of tinnitus: results from the second Nord-TrÃ¸ndelag health study. Arch Otolaryngol Head Neck Surg. 2010;136:178-82 pubmed publisher..In contrast to previous speculations in the literature, this low heritability indicates that additive genetic effects explain only a small proportion of the variance of tinnitus in the population. ..
- Lai J, Tinker A, Cheung W. Factors influencing the willingness of US women to vaccinate their daughters against the human papillomavirus to prevent cervical cancer. Med Oncol. 2013;30:582 pubmed publisher..Interventions focused on alleviating racial disparities might better modify the use of the HPV vaccine. ..
- Langenbach M, Stippel A, Stippel D. Kidney donors' quality of life and subjective evaluation at 2 years after donation. Transplant Proc. 2009;41:2512-4 pubmed publisher..Relating a donor to one of the described ideal types may help identify specific difficulties and guide the tailoring of individual psychological interventions. All interviewed donors wished for extended counseling after kidney donation. ..
- Godoy Verdugo M, Zonana Nacach A, Anzaldo Campos M. [Acceptance of the vaccine against human papilloma virus from mothers to daughters aged 9 to 13 years old]. Ginecol Obstet Mex. 2013;81:645-51 pubmed..0001) that mothers have not yet vaccinated their daughters. The acceptability of VPH vaccine was 89%. Continued health education and propaganda is needed to promote a better knowledge of VPH vaccine. ..
- Polglaze T. Returning home to care for a dying mother. Nurs N Z. 2008;14:14-6 pubmed