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排序方式: 共有5067条查询结果,搜索用时 343 毫秒
51.
Seymour S. Kety David Rosenthal Paul H. Wender Fini Schulsinger Bjørn Jacobsen 《Behavior genetics》1976,6(3):219-225
In a sample of 5483 adults who had been legally adopted early in life by persons not biologically related to them, 33 were identified, from mental hospital records, for whom a diagnosis of definite schizophrenia (chronic, latent, or acute) could be agreed upon by four raters. An equal number of matched controls were selected from the sample of adopted individuals who had never been admitted to a mental hospital. Ninety percent of the living parents, siblings, and half-siblings, biological and adoptive, cooperated in an extensive psychiatric interview permitting a consensus diagnosis by three blind raters. Schizophrenia and uncertain schizophrenia were found to be significantly concentrated in the population genetically related to the schiziphrenic adoptees. Their adoptive relatives did not differ from the control populations in the prevalence of schizophrenic illness.This was presented at the Annual Meeting of the American Society of Human Genetics, Portland. Oregon, October 18, 1974. 相似文献
52.
Analysis of the effect of sex combination of previously born children in the family on fertility rates was performed for 363,373 Danish families comprising a total of 613,900 children, to address the questions of sex preference and combination preference. The fertility rates were stratified by parental age, period and latency time to the next child, and fertility rate ratios were estimated using multiplicative Poisson regression models. Our results demonstrate a strong preference for a balanced composition of sexes in Danish families. In families with two or three children the highest fertility rates were seen in families who had same-sexed children. The lowest fertility rates were in families with two children of identical sex followed by a child of the opposite sex. A moderate sex preference for girls was indicated by higher fertility rates in two-boy families than in two-girl families. 相似文献
53.
Preimplantation genetic diagnosis principles and ethics 总被引:4,自引:0,他引:4
54.
Life expectancy in British Marfan syndrome populations 总被引:2,自引:0,他引:2
JR Gray AB Bridges RR West L. McLeish AG Stuart JCS Dean MEM Porteous M. Boxer SJ Davies 《Clinical genetics》1998,54(2):124-128
A total of 206 patients with Marfan syndrome were ascertained throughout genetic clinics in Wales and Scotland during the period 1970–1990. There were 45 deaths representing 22% of the cohort. Mean age at death was 45.3 ± 16.5 years. 50% median cumulative survival in the total cohort (n = 206) was 53 years for males and 72 years for females. Multivariate analysis confirmed severity as the best independent indicator of survival. These findings and survival curves will assist in the counselling of British families and individuals with Marfan syndrome. 相似文献
55.
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes 总被引:17,自引:8,他引:17
Campuzano V; Montermini L; Lutz Y; Cova L; Hindelang C; Jiralerspong S; Trottier Y; Kish SJ; Faucheux B; Trouillas P; Authier FJ; Durr A; Mandel JL; Vescovi A; Pandolfo M; Koenig M 《Human molecular genetics》1997,6(11):1771-1780
Friedreich ataxia is a progressive neurodegenerative disorder caused by
loss of function mutations in the frataxin gene. In order to unravel
frataxin function we developed monoclonal antibodies raised against
different regions of the protein. These antibodies detect a processed 18
kDa protein in various human and mouse tissues and cell lines that is
severely reduced in Friedreich ataxia patients. By immunocytofluorescence
and immunocytoelectron microscopy we show that frataxin is located in
mitochondria, associated with the mitochondrial membranes and crests.
Analysis of cellular localization of various truncated forms of frataxin
expressed in cultured cells and evidence of removal of an N-terminal
epitope during protein maturation demonstrated that the mitochondrial
targetting sequence is encoded by the first 20 amino acids. Given the
shared clinical features between Friedreich ataxia, vitamin E deficiency
and some mitochondriopathies, our data suggest that a reduction in frataxin
results in oxidative damage.
相似文献
56.
Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene 总被引:4,自引:0,他引:4
57.
de la Mora MP Cárdenas-Cachón L Vázquez-García M Crespo-Ramírez M Jacobsen K Höistad M Agnati L Fuxe K 《Neuroscience letters》2005,377(2):101-105
The intercalated islands are intra-amigdaloid clusters of D1 receptor rich GABAergic neurons, which control impulse traffic between the basolateral complex and the central nucleus of the amygdala. As dopaminergic transmission within the amygdala may play a role in anxiety, the effect of the D1 antagonist SCH23390 microinjected mainly close to the rostral intercalated islands in rats was studied, using the White and Black Box test. SCH23390 reduced anxiety by an increase in the latency of the first entry into the black compartment and by an increase in the total time spent in the white compartment of the White and Black Box test, while there was no significant modification of locomotion. It is suggested that blockade of D1 receptors in the rostral intercalated islands may reduce anxiety through a reduction of GABA-mediated dishinibition of the central amygdaloid nucleus. 相似文献
58.
59.
Jacobsen HP Herskind AM Nielsen BW Husby S 《The Journal of allergy and clinical immunology》2001,107(4):659-663
BACKGROUND: IgE is a major determinant of allergic disease. Twin analysis of serum levels of IgE has been carried out previously in children and adults with heritability estimates of 30% to 70% on the basis of ANOVA. OBJECTIVE: This study included the analysis of serum IgE in a population of 126 twins, 27 monozygotic pairs and 36 dizygotic pairs, studied at birth (cord blood [CB] IgE) and consecutively at the age of 6 to 9 years of age (serum IgE). METHODS: IgE was determined by means of RIA. ANOVA, correlation analysis, and structural equation modeling by maximal likelihood analysis was used for genetic analysis. RESULTS: Structural equation modeling by maximal likelihood analysis showed the best-fitting model to be the AE model (A for additive genetic variance and E for environmental variance) both at birth and later in childhood. The estimated heritability was 0.92 (95% CI, 0.84-0.95) for CB IgE and 0.78 (95% CI, 0.60-0.87) for serum IgE. The correlation between CB IgE and serum IgE was 0.04. CONCLUSIONS: The study demonstrated a higher genetic dependency of serum IgE than previously recognized. The low correlation between the IgE levels at birth and later in childhood suggested that different effector mechanisms may be operating at different ages. 相似文献
60.
Processes underlying aesthetic appreciation of formal graphic black and white patterns were investigated. In previous EEG studies on aesthetic and symmetry judgments, an early frontocentral negativity has been observed for not beautiful judgments, and interpreted as reflecting an impression formation. In addition, a lateralized late positivity, more pronounced in the aesthetic than in the symmetry judgment task, has been interpreted as reflecting evaluative categorization; and a sustained posterior negativity for not symmetric judgments, has been interpreted as reflecting a prolonged symmetry analysis. Here, we investigated whether these processes occur spontaneously, i.e. independent of an aesthetics task instruction or a judgment task demand. Participants were randomly assigned to two group conditions. In the Viewing condition, participants were instructed to view graphic patterns, and to detect a probe. In the Contemplation condition, participants were instructed to contemplate the beauty of the patterns, and to detect a probe. No aesthetics-related response was required in either condition. ERP results suggest that symmetry analysis occurred spontaneously. Evaluative categorization, reflected by a late positivity, required an aesthetics instruction and did not occur spontaneously. This process was elicited without an overt aesthetic judgment. An early frontocentral negativity for not beautiful patterns, interpreted as reflecting impression formation, did not occur (in contrast to previous studies that required an overt aesthetic judgment). Given the present data, aesthetic appreciation of graphic patterns requires different sub-processes. Aesthetic contemplation is reflected by a lateralized late positivity, whilst an aesthetic judgment is additionally reflected by an early frontocentral negativity. Aesthetic appreciation of beauty appears to require intention and is not spontaneous in character. 相似文献