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  1. Book: The neuroscience of autism spectrum disorders

    Buxbaum, Joseph D. / Hof, Patrick R.

    2013  

    Author's details Joseph D. Buxbaum ; Patrick R. Hof
    Keywords Child Development Disorders, Pervasive / etiology ; Autismus ; Neurowissenschaften
    Subject Autismus-Spektrum-Störung ; Autism
    Language English
    Size XII, 480 S. : Ill., graph. Darst.
    Edition 1. ed.
    Publisher Elsevier Acad. Press
    Publishing place Amsterdam u.a.
    Publishing country Netherlands
    Document type Book
    Note Includes bibliographical references and index
    HBZ-ID HT017658230
    ISBN 978-0-12-391924-3 ; 0-12-391924-X
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    2013 A 1144 available for loan (reading room) Lesesaal EG

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  2. Book: Charney & Nestler's neurobiology of mental illness

    Charney, Dennis S. / Sklar, Pamela B. / Buxbaum, Joseph D. / Nestler, Eric J.

    2018  

    Title variant Charney and Nestler's neurobiology of mental illness ; Neurobiology of mental illness
    Author's details edited by Dennis S. Charney, Pamela Sklar, Joseph D. Buxbaum, Eric J. Nestler
    Keywords Mental Disorders - etiology ; Mental Disorders - physiopathology ; Mental Disorders - therapy ; Neurobiology ; Mental Disorders ; Mental Disorders / etiology ; Mental Disorders / physiopathology ; Mental Disorders / therapy ; Psychische Störung ; Neurobiologie
    Subject Seelische Störung ; Mental disorder ; Psychische Krankheit ; Seelische Krankheit ; Psychiatrische Krankheit ; Psychische Erkrankung ; Psychische Störungen
    Language English
    Size xvii, 1003 Seiten, Illustrationen, Diagramme
    Edition Fifth edition
    Publisher Oxford University Press
    Publishing place New York, NY
    Publishing country United States
    Document type Book
    Note Preceded by Neurobiology of mental illness / edited by Dennis S. Charney ... [et al.]. 4th ed. 2013
    HBZ-ID HT020068201
    ISBN 978-0-19-068142-5 ; 9780190681432 ; 0-19-068142-X ; 0190681438
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    2019 A 698 available for loan (reading room) Lesesaal EG

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  3. Article ; Online: Making Sense of Antisense: Getting From a Locus to a Gene.

    Buxbaum, Joseph D

    Biological psychiatry

    2019  Volume 87, Issue 2, Page(s) 95–97

    MeSH term(s) Autistic Disorder ; Humans ; Membrane Proteins ; Neurons ; RNA, Messenger ; Transcription, Genetic
    Chemical Substances Membrane Proteins ; PTCHD1 protein, human ; RNA, Messenger
    Language English
    Publishing date 2019-12-19
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Comment
    ZDB-ID 209434-4
    ISSN 1873-2402 ; 0006-3223
    ISSN (online) 1873-2402
    ISSN 0006-3223
    DOI 10.1016/j.biopsych.2019.11.003
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article: Identification of moderate effect size genes in autism spectrum disorder through a novel gene pairing approach.

    Caballero, Madison / Satterstrom, F Kyle / Buxbaum, Joseph D / Mahjani, Behrang

    medRxiv : the preprint server for health sciences

    2024  

    Abstract: Autism Spectrum Disorder (ASD) arises from complex genetic and environmental factors, with inherited genetic variation playing a substantial role. This study introduces a novel approach to uncover moderate effect size (MES) genes in ASD, which ... ...

    Abstract Autism Spectrum Disorder (ASD) arises from complex genetic and environmental factors, with inherited genetic variation playing a substantial role. This study introduces a novel approach to uncover moderate effect size (MES) genes in ASD, which individually do not meet the ASD liability threshold but collectively contribute when paired with specific other MES genes. Analyzing 10,795 families from the SPARK dataset, we identified 97 MES genes forming 50 significant gene pairs, demonstrating a substantial association with ASD when considered in tandem, but not individually. Our method leverages familial inheritance patterns and statistical analyses, refined by comparisons against control cohorts, to elucidate these gene pairs' contribution to ASD liability. Furthermore, expression profile analyses of these genes in brain tissues underscore their relevance to ASD pathology. This study underscores the complexity of ASD's genetic landscape, suggesting that gene combinations, beyond high impact single-gene mutations, significantly contribute to the disorder's etiology and heterogeneity. Our findings pave the way for new avenues in understanding ASD's genetic underpinnings and developing targeted therapeutic strategies.
    Language English
    Publishing date 2024-04-04
    Publishing country United States
    Document type Preprint
    DOI 10.1101/2024.04.03.24305278
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: The promise of precision medicine in autism.

    Kostic, Ana / Buxbaum, Joseph D

    Neuron

    2021  Volume 109, Issue 14, Page(s) 2212–2215

    Abstract: Autism spectrum disorder (ASD) is a clinically and etiologically diverse developmental condition characterized by diminished social interactions, impaired communication, and repetitive and/or restrictive behaviors. Recent advances in ASD genetics pave ... ...

    Abstract Autism spectrum disorder (ASD) is a clinically and etiologically diverse developmental condition characterized by diminished social interactions, impaired communication, and repetitive and/or restrictive behaviors. Recent advances in ASD genetics pave the way for implementation of precision medicine in clinical management of autism.
    MeSH term(s) Autism Spectrum Disorder/diagnosis ; Autism Spectrum Disorder/genetics ; Humans ; Precision Medicine
    Language English
    Publishing date 2021-07-19
    Publishing country United States
    Document type Journal Article
    ZDB-ID 808167-0
    ISSN 1097-4199 ; 0896-6273
    ISSN (online) 1097-4199
    ISSN 0896-6273
    DOI 10.1016/j.neuron.2021.06.025
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 2496: Show issues Location:
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    Zs.MG 92: Show issues

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  6. Article ; Online: Gene constraint and genotype-phenotype correlations in neurodevelopmental disorders.

    Betancur, Catalina / Buxbaum, Joseph D

    Current opinion in genetics & development

    2020  Volume 65, Page(s) 69–75

    Abstract: With the advent and widespread adoption of high-throughput DNA sequencing, genetic discoveries in neurodevelopmental disorders (NDDs) are advancing very rapidly. The identification of novel NDD genes and of rare, highly penetrant pathogenic variants is ... ...

    Abstract With the advent and widespread adoption of high-throughput DNA sequencing, genetic discoveries in neurodevelopmental disorders (NDDs) are advancing very rapidly. The identification of novel NDD genes and of rare, highly penetrant pathogenic variants is leading to improved understanding of genotype-phenotype correlations. Here we emphasize the importance of large-scale, reference databases such as gnomAD to determine gene and variant level constraints and facilitate gene discovery, variant interpretation, and genotype-phenotype correlations. While the majority of dominant NDD genes are highly intolerant to variation, some apparent exceptions in reference databases are related to the presence of variants in transcripts that are not brain expressed and/or genes that show acquired somatic mosaicism in blood. Multiple NDD genes are being identified where varying phenotypes depend on the mode of inheritance (e.g., dominant or recessive), the nature (e.g., missense or truncating), or location of the mutation. Ongoing genome-wide analyses and targeted functional studies provide enhancements to the annotation of genes, gene products and variants, which will continue to facilitate gene and variant discovery and variant interpretation.
    MeSH term(s) Animals ; Databases, Genetic ; Genetic Association Studies ; Genome-Wide Association Study ; Humans ; Mutation ; Nerve Tissue Proteins/genetics ; Neurodevelopmental Disorders/genetics ; Neurodevelopmental Disorders/pathology
    Chemical Substances Nerve Tissue Proteins
    Language English
    Publishing date 2020-06-26
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 1077312-5
    ISSN 1879-0380 ; 0959-437X
    ISSN (online) 1879-0380
    ISSN 0959-437X
    DOI 10.1016/j.gde.2020.05.036
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 3240: Show issues Location:
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  7. Article ; Online: DSM-5 and psychiatric genetics - round hole, meet square peg.

    Buxbaum, Joseph D

    Biological psychiatry

    2015  Volume 77, Issue 9, Page(s) 766–768

    MeSH term(s) Autism Spectrum Disorder/genetics ; Autistic Disorder/genetics ; Female ; Humans ; Male ; Phenotype
    Language English
    Publishing date 2015-05-01
    Publishing country United States
    Document type Comment ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 209434-4
    ISSN 1873-2402 ; 0006-3223
    ISSN (online) 1873-2402
    ISSN 0006-3223
    DOI 10.1016/j.biopsych.2015.02.031
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Comorbidities in autism spectrum disorder and their etiologies.

    Khachadourian, Vahe / Mahjani, Behrang / Sandin, Sven / Kolevzon, Alexander / Buxbaum, Joseph D / Reichenberg, Abraham / Janecka, Magdalena

    Translational psychiatry

    2023  Volume 13, Issue 1, Page(s) 71

    Abstract: Individuals with autism spectrum disorder (ASD), in addition to the core features of the disease, experience a higher burden of co-occurring medical conditions. This study sought to describe the frequency and distribution of comorbidit conditions in ... ...

    Abstract Individuals with autism spectrum disorder (ASD), in addition to the core features of the disease, experience a higher burden of co-occurring medical conditions. This study sought to describe the frequency and distribution of comorbidit conditions in individuals with ASD, and systematically evaluate the possibility that pre- and postnatal exposures (e.g., preterm birth, hypoxia at birth, traumatic brain injury, and fetal alcohol syndrome) associated with ASD may also be linked with distinct comorbidities. We used the SPARK study database, launched by the Simons Foundation Autism Research Initiative (SFARI). Comorbidities considered in the study included neurological, cognitive, psychiatric, and physical conditions. The study sample consisted of 42,569 individuals with ASD and their 11,389 non-ASD siblings (full and half siblings). Majority (74%) of individuals with ASD had at least one comorbidity, and had a greater average number of comorbidities than their non-ASD siblings. Preterm birth and hypoxia at birth were the most common peri-natal exposures in the sample. In logistic regression models adjusted for covariates, these exposures were associated with several distinct comorbidities in ASD cases, including attention and behavior problems, psychiatric and neurological disorders, and growth conditions. A similar pattern of association was also observed in non-ASD siblings. Our findings underscore that individuals with ASD experience a greater burden of comorbidities, which could be partly attributable to the higher rates of perinatal exposures compared to their non-ASD siblings. Study findings, if replicated in other samples, can inform the etiology of comorbidity in ASD.
    MeSH term(s) Infant, Newborn ; Pregnancy ; Female ; Humans ; Autism Spectrum Disorder/psychology ; Premature Birth ; Comorbidity ; Autistic Disorder ; Siblings/psychology
    Language English
    Publishing date 2023-02-25
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 2609311-X
    ISSN 2158-3188 ; 2158-3188
    ISSN (online) 2158-3188
    ISSN 2158-3188
    DOI 10.1038/s41398-023-02374-w
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Somatic comorbidities of mental disorders in pregnancy.

    Khachadourian, Vahe / Kodesh, Arad / Levine, Stephen Z / Lin, Emma / Buxbaum, Joseph D / Bergink, Veerle / Sandin, Sven / Reichenberg, Abraham / Janecka, Magdalena

    European psychiatry : the journal of the Association of European Psychiatrists

    2023  Volume 66, Issue 1, Page(s) e15

    Abstract: Background: Mental and physical health conditions are frequently comorbid. Despite the widespread physiological and behavioral changes during pregnancy, the pattern of comorbidities among women in pregnancy is not well studied. This study aimed to ... ...

    Abstract Background: Mental and physical health conditions are frequently comorbid. Despite the widespread physiological and behavioral changes during pregnancy, the pattern of comorbidities among women in pregnancy is not well studied. This study aimed to systematically examine the associations between mental and somatic disorders before and during pregnancy.
    Method: The study used data from mothers of a nationally representative birth cohort of children born in Israel (1997-2008). We compared the risk of all major somatic disorders (International Classification of Diseases, Ninth Revision) in pregnant women with and without a mental disorder. All analyses were adjusted for maternal age, child's birth year, family socioeconomic status, and the total number of maternal encounters with health services around pregnancy period.
    Results: The analytical sample included 77,030 mother-child dyads, with 30,083 unique mothers. The mean age at child's birth was 29.8 years. Prevalence of diagnosis of mental disorder around pregnancy in our sample was 4.4%. Comorbidity between mental and somatic disorders was two times higher than the comorbidity between pairs of different somatic disorders. Of the 17 somatic disorder categories, seven were positively associated with mental health disorders. The highly prevalent comorbidities associated with mental disorders in pregnancy included e.g. musculoskeletal (OR = 1.30; 95% CI = 1.20-1.42) and digestive system diseases (OR = 1.23; 95% CI = 1.13-1.34).
    Conclusions: We observed that associations between maternal diagnoses and mental health stand out from the general pattern of comorbidity between nonmental health diseases. The study results confirm the need for screening for mental disorders during pregnancy and for potential comorbid conditions associated with mental disorders.
    MeSH term(s) Female ; Humans ; Pregnancy ; Adult ; Mental Disorders/epidemiology ; Comorbidity ; Mothers/psychology ; Mental Health ; Maternal Age
    Language English
    Publishing date 2023-01-16
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 1074337-6
    ISSN 1778-3585 ; 0767-399X ; 0924-9338
    ISSN (online) 1778-3585
    ISSN 0767-399X ; 0924-9338
    DOI 10.1192/j.eurpsy.2023.1
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    Zs.A 2369: Show issues Location:
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  10. Article ; Online: Prospective phenotyping of CHAMP1 disorder indicates that coding mutations may not act through haploinsufficiency.

    Levy, Tess / Pichardo, Thariana / Silver, Hailey / Lerman, Bonnie / Zweifach, Jessica / Halpern, Danielle / Siper, Paige M / Kolevzon, Alexander / Buxbaum, Joseph D

    Human genetics

    2023  Volume 142, Issue 9, Page(s) 1385–1394

    Abstract: CHAMP1 disorder is a genetic neurodevelopmental condition caused by mutations in the CHAMP1 gene that result in premature termination codons. The disorder is associated with intellectual disability, medical comorbidities, and dysmorphic features. ... ...

    Abstract CHAMP1 disorder is a genetic neurodevelopmental condition caused by mutations in the CHAMP1 gene that result in premature termination codons. The disorder is associated with intellectual disability, medical comorbidities, and dysmorphic features. Deletions of the CHAMP1 gene, as part of 13q34 deletion syndrome, have been briefly described with the suggestion of a milder clinical phenotype. To date, no studies have directly assessed differences between individuals with mutations in CHAMP1 to those with deletions of the gene. We completed prospective clinical evaluations of 16 individuals with mutations and eight with deletions in CHAMP1. Analyses revealed significantly lower adaptive functioning across all domains assessed (i.e., communication, daily living skills, socialization, and motor skills) in the mutation group. Developmental milestones and medical features further showed difference between groups. The phenotypes associated with mutations, as compared to deletions, indicate likely difference in pathogenesis between groups, where deletions are acting through CHAMP1 haploinsufficiency and mutations are acting through dominant negative or gain of function mechanisms, leading to a more severe clinical phenotype. Understanding this pathogenesis is important to the future of novel therapies for CHAMP1 disorder and illustrates that mechanistic understanding of mutations must be carefully considered prior to treatment development.
    MeSH term(s) Humans ; Haploinsufficiency/genetics ; Prospective Studies ; Mutation ; Intellectual Disability/genetics ; Neurodevelopmental Disorders ; Phenotype ; Chromosomal Proteins, Non-Histone/genetics ; Phosphoproteins/genetics
    Chemical Substances CHAMP1 protein, human ; Chromosomal Proteins, Non-Histone ; Phosphoproteins
    Language English
    Publishing date 2023-07-16
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 223009-4
    ISSN 1432-1203 ; 0340-6717
    ISSN (online) 1432-1203
    ISSN 0340-6717
    DOI 10.1007/s00439-023-02578-6
    Database MEDical Literature Analysis and Retrieval System OnLINE

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