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15q11.2 CNV affects cognitive, structural and functional correlates of dyslexia and dyscalculia.

https://arctichealth.org/en/permalink/ahliterature287813
Source
Transl Psychiatry. 2017 Apr 25;7(4):e1109
Publication Type
Article
Date
Apr-25-2017
Author
M O Ulfarsson
G B Walters
O. Gustafsson
S. Steinberg
A. Silva
O M Doyle
M. Brammer
D F Gudbjartsson
S. Arnarsdottir
G A Jonsdottir
R S Gisladottir
G. Bjornsdottir
H. Helgason
L M Ellingsen
J G Halldorsson
E. Saemundsen
B. Stefansdottir
L. Jonsson
V K Eiriksdottir
G R Eiriksdottir
G H Johannesdottir
U. Unnsteinsdottir
B. Jonsdottir
B B Magnusdottir
P. Sulem
U. Thorsteinsdottir
E. Sigurdsson
D. Brandeis
A. Meyer-Lindenberg
H. Stefansson
K. Stefansson
Source
Transl Psychiatry. 2017 Apr 25;7(4):e1109
Date
Apr-25-2017
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Chromosome Aberrations
Chromosome Deletion
Chromosomes, Human, Pair 15 - genetics
Cognition - physiology
DNA Copy Number Variations - genetics
Developmental Disabilities - genetics
Dyscalculia - genetics
Dyslexia - genetics
Female
Functional Neuroimaging - methods - standards
Heterozygote
Humans
Iceland - epidemiology
Intellectual Disability - genetics
Magnetic Resonance Imaging - methods
Male
Middle Aged
Neuropsychological Tests - standards
Phenotype
Temporal Lobe - anatomy & histology - diagnostic imaging
Young Adult
Abstract
Several copy number variants have been associated with neuropsychiatric disorders and these variants have been shown to also influence cognitive abilities in carriers unaffected by psychiatric disorders. Previously, we associated the 15q11.2(BP1-BP2) deletion with specific learning disabilities and a larger corpus callosum. Here we investigate, in a much larger sample, the effect of the 15q11.2(BP1-BP2) deletion on cognitive, structural and functional correlates of dyslexia and dyscalculia. We report that the deletion confers greatest risk of the combined phenotype of dyslexia and dyscalculia. We also show that the deletion associates with a smaller left fusiform gyrus. Moreover, tailored functional magnetic resonance imaging experiments using phonological lexical decision and multiplication verification tasks demonstrate altered activation in the left fusiform and the left angular gyri in carriers. Thus, by using convergent evidence from neuropsychological testing, and structural and functional neuroimaging, we show that the 15q11.2(BP1-BP2) deletion affects cognitive, structural and functional correlates of both dyslexia and dyscalculia.
Notes
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PubMed ID
28440815 View in PubMed
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[Absence of the palmar c triradius. Dermatoglyphic and geneologic study of a genetic character transmitted since the 17th century in a Quebec family].

https://arctichealth.org/en/permalink/ahliterature242476
Source
Ann Genet. 1983;26(3):174-6
Publication Type
Article
Date
1983
Author
F B Genest
P. Genest
Source
Ann Genet. 1983;26(3):174-6
Date
1983
Language
French
Publication Type
Article
Keywords
Chromosome Aberrations
Chromosome Disorders
Dermatoglyphics
Female
Fingers - abnormalities - radiography
Foot - radiography
France - ethnology
Hand - radiography
Humans
Male
Pedigree
Phenotype
Quebec
Sex Chromosomes
Sex Factors
Time Factors
Abstract
A dermatoglyphic research on the absence of the palmar c-triradius was carried out in a Canadian family line originating from a French married couple who settled in the Quebec City area in 1649. Of the 51 individuals examined, 34 showed that c-triradius was missing on one or both palms. The study of the family tree and of the data confirms the hypothesis that an absent palmar c-triradius is an autosomal dominant trait transmitted by an heterozygous genotype with, in the present observation, an incidence of 66,6% and an estimated penetrance of 44,1%.
PubMed ID
6606380 View in PubMed
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[Achievement and prospects of the new laboratory of medical cytogenetics].

https://arctichealth.org/en/permalink/ahliterature108554
Source
Tsitologiia. 2013;55(4):279-80, 1p following 280
Publication Type
Article
Date
2013
Author
T A Gainer
O G Karimova
Source
Tsitologiia. 2013;55(4):279-80, 1p following 280
Date
2013
Language
Russian
Publication Type
Article
Keywords
Achievement
Chromosome Aberrations - embryology - statistics & numerical data
Chromosome Disorders - diagnosis
Cytogenetics
Embryo, Mammalian
Family Planning Services
Female
Humans
Laboratories
Male
Pregnancy
Prenatal Diagnosis
Russia
Abstract
Chromosomal abnormalities (CA) represent a significant part in the congenital and hereditary diseases of man. Because of the high need for cytogenetic analysis in January, 2011 a new cytogenetic laboratory was established in ICBFM SB RAS. For 1 year and 8 months more than 450 people was examined (including 21 cases with prenatal diagnosis (PD)), and 34 cases of CA was revealed. The diagnostics allows to choose symptomatic treatment for patients with CA or to prevent the birth of a child with serious CA and to plan a family. Our future plans is to develop of PD (amniocentesis) and to use the methods of molecular cytogenetic.
PubMed ID
23875466 View in PubMed
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[A comparative study of the immunological (antimicrosomal antibodies) and cytogenetic indices of children living in radioactively contaminated areas of Bryansk Province]

https://arctichealth.org/en/permalink/ahliterature34277
Source
Radiats Biol Radioecol. 1997 May-Jun;37(3):404-7
Publication Type
Article
Author
A P Shinkarkina
A A Zhloba
V K Podgorodnichewnko
A V Sevan'kaev
A M Poverennyi
Source
Radiats Biol Radioecol. 1997 May-Jun;37(3):404-7
Language
Russian
Publication Type
Article
Keywords
Accidents, Radiation
Adolescent
Autoantibodies - blood
Cells, Cultured
Child
Chromosome Aberrations
Comparative Study
English Abstract
Humans
Lymphocytes - radiation effects
Microsomes - immunology
Nuclear Reactors
Power Plants
Radioactive Fallout - adverse effects
Russia
Thyroid Gland - immunology - radiation effects
Ukraine
Abstract
The chromosome dicentric aberrations in the lymphocytes and levels of antibodies to human thyroid microsomal antigen in the serum of the children lived in the area of Bryansk Province suffered from the Chernobyl accident was examined. Correlation between those tests was not estimated: the autoantibodies were revealed in group with dicentrics and without those in 4.0% and 4.5% of cases correspondingly. Antimicrosomal antibodies were revealed more frequently (5.0%) and in higher titers in the children from the more polluted Bryansk Province than in those from Kaluga Province (3.1%). These data can testify about the role of inside radiation of thyroid gland in appearance of autoimmune thyroiditis signs.
PubMed ID
9244530 View in PubMed
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Acute myeloid leukemia and clonal chromosome aberrations in relation to past exposure to organic solvents.

https://arctichealth.org/en/permalink/ahliterature20007
Source
Scand J Work Environ Health. 2000 Dec;26(6):482-91
Publication Type
Article
Date
Dec-2000
Author
M. Albin
J. Björk
H. Welinder
H. Tinnerberg
N. Mauritzson
B. Johansson
R. Billström
U. Strömberg
Z. Mikoczy
T. Ahlgren
P G Nilsson
F. Mitelman
L. Hagmar
Author Affiliation
Department of Occupational and Environmental Medicine, Lund University Hospital, Sweden. maria.albin@ymed.lu.se
Source
Scand J Work Environ Health. 2000 Dec;26(6):482-91
Date
Dec-2000
Language
English
Publication Type
Article
Keywords
Acute Disease
Chromosome Aberrations
Environmental Exposure
Humans
Leukemia, Myeloid - chemically induced - epidemiology - genetics
Occupational Exposure
Organic Chemicals - adverse effects
Research Support, Non-U.S. Gov't
Solvents - adverse effects
Sweden - epidemiology
Abstract
OBJECTIVES: The effects of occupational and leisure-time exposures on the risk of acute myeloid leukemia (AML) were investigated with emphasis on clonal chromosome aberrations (CCA) and morphological subtypes. METHODS: Consecutively diagnosed cases of AML (N=333) and 1 population referent per case were retrospectively included in the study. Information on worktasks, companies, and leisure-time activities was obtained with telephone interviews. Exposure probability and intensity were assessed by occupational hygienists. Associations were evaluated with logistic regression. RESULTS: Exposure to organic solvents was associated with an increased risk of AML [low exposure: OR 1.5 (95% confidence interval (95% CI) 1.0-2.3, moderate-high exposure: OR 2.3 (95% CI 1.0-5.0)]. For exposure to solvents, but not to benzene, the OR was 1.2 (95% CI 0.69-2.0) for "low" and 2.7 (95% CI 1.0-7.3) for "moderate-high" exposure. The observed effects increased with intensity and duration of exposure. The estimated effects were higher for patients >60 years of age at the time of diagnosis. The effect of exposure to organic solvents was not differential with regard to morphology [except possibly erythroleukemia: OR 4.2, 95% CI 1.0-17 or the presence of CCA in general]. No increased risk for AML with complex CCA or with total or partial losses of chromosomes 5 or 7 were observed, but a higher risk was found for AML with trisomy 8 (OR 11, 95% CI 2.7-42) as the sole aberration. CONCLUSIONS: Exposure to organic solvents was associated with an increased risk of AML. This association was not due to benzene exposure alone and may be modified by age. Furthermore, specific associations with trisomy 8, and possibly also erythroleukemia, were suggested.
PubMed ID
11201395 View in PubMed
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[A cytogenetic assessment of the mutagenic background in the Dnieper River industrial area]

https://arctichealth.org/en/permalink/ahliterature35173
Source
Tsitol Genet. 1995 Sep-Oct;29(5):16-22
Publication Type
Article
Author
A I Gorovaia
V M Digurko
T V Skvortsova
Source
Tsitol Genet. 1995 Sep-Oct;29(5):16-22
Language
Russian
Publication Type
Article
Keywords
Child
Child, Preschool
Chromosome Aberrations - genetics
Comparative Study
English Abstract
Environmental monitoring
Environmental Pollution - adverse effects - statistics & numerical data
Humans
Industry
Mutagenesis
Plants - genetics
Pollen - genetics
Ukraine
Abstract
Cytogenetic investigation of plant cells and somatic cells of children from Dnepropetrovsk shown and increase of the frequency of chromosome aberrations and gene mutations in contaminated regions that testified the increased mutagenic background of urban environment.
PubMed ID
8721840 View in PubMed
Less detail

[A cytogenetic examination of persons subjected to radiation exposure in certain regions of Ukraine]

https://arctichealth.org/en/permalink/ahliterature23672
Source
Tsitol Genet. 1994 May-Jun;28(3):32-7
Publication Type
Article
Author
K P Ganina
L Z Polishchuk
L G Buchinskaia
I P Nesina
L P Kindzel'skii
E A Demina
V D Usatenko
E D Chebotareva
T P Iakimova
N A Maznik
Source
Tsitol Genet. 1994 May-Jun;28(3):32-7
Language
Russian
Publication Type
Article
Keywords
Accidents, Radiation
Cells, Cultured
Chromosome Aberrations
Comparative Study
DNA Repair - radiation effects
English Abstract
Environmental Exposure - adverse effects
Hodgkin Disease - blood
Humans
Lymphocytes - metabolism - radiation effects
Occupational Exposure - adverse effects
Power Plants
Ukraine
Abstract
We have summarized the results of cytogenetic studies of peripheral blood lymphocytes conducted in the institutions of Kiev and Kharkov in persons irradiated after the accident of the Chernobyl NPP. The average level of chromosomal aberrations and the appearance of cytogenetic markers characteristic of their irradiation effect was higher in the examinees in comparison with the control. The increase in the number of aberrations in certain Kiev residents as well as the development of lymphogranulomatosis in some liquidators of the accident were detected. The increase in the frequency of chromosomal aberrations in liquidators of the accident was accompanied by the reduction in the level of reparative DNA synthesis of blood lymphocytes. The necessity to expand cytogenetic examination in persons that participated in the liquidation of the accident on the ChNPP and Kiev inhabitants is discussed.
PubMed ID
7974780 View in PubMed
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704 records – page 1 of 71.