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  1. Book ; Online: Identification and Characterization of Genetic Components in Autism Spectrum Disorders 2020

    Butler, Merlin G.

    2022  

    Keywords Research & information: general ; Biology, life sciences ; Genetics (non-medical) ; autism ; ASD ; genetics ; heterogeneity ; syndromes ; assessment ; medications ; treatment ; causes ; autism spectrum disorders (ASDs) ; proteomics ; metabolomics ; interactomics ; disease biomarkers ; clinical decision support systems (CDSSs) ; phenotypic subgroups stratified by ASD severity ; simplex families ; DNA methylation ; subgroup-associated genes and biological functions ; Broader Autism Phenotype ; genetic ; autism spectrum disorder ; multiplex family ; genetic factors ; epigenetic factors ; environmental factors ; pervasive developmental disorder ; post-synaptic density ; CNV ; SNP ; gene fusion ; CACNA1C ; CaV1.2 ; short QT syndrome ; dental enamel defect ; bioinformatics ; human genetics ; pharmacogenomics ; 15q11.2 BP1-BP2 deletion ; Burnside-Butler syndrome ; clinical findings ; cognition ; neuropsychiatric behavior development ; genomic characterization ; exome sequencing ; protein-protein interaction ; 22q13.3 duplication ; auditory steady-state response ; ASSR ; SHANK3 ; biomarker ; auditory event-related potential ; ERP ; autism spectrum disorders ; intellectual disabilities
    Language 0|e
    Size 1 electronic resource (204 pages)
    Publisher MDPI - Multidisciplinary Digital Publishing Institute
    Publishing place Basel
    Document type Book ; Online
    Note English ; Open Access
    HBZ-ID HT021609063
    ISBN 9783036536125 ; 3036536124
    Database ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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  2. Book ; Online: Identification and Characterization of Genetic Components in Autism Spectrum Disorders 2019

    Butler, Merlin G.

    2022  

    Keywords Research & information: general ; Biology, life sciences ; Genetics (non-medical) ; autism spectrum disorders (ASD) ; cancer ; overlapping genes and gene profiling ; super-pathways ; phenotypes and diseases ; molecular functions and processes ; 15q11.2 BP1-BP2 microdeletion (Burnside-Butler) syndrome ; imprinting ; parent-of-origin effects ; phenotype-genotype correlation ; autism ; developmental delays ; motor delays ; microbiome ; gut ; ProSAP2 ; Phelan McDermid Syndrome ; gut-brain interaction ; leaky gut ; IL-6 ; SHANK ; collapsin response mediator protein 4 ; autism spectrum disorder ; neurodevelopmental disorder ; whole-exome sequencing ; animal model ; sex different phenotypes ; 15q11.2 BP1-BP2 microdeletion (Burnside-Butler syndrome) ; NIPA1 ; NIPA2 ; CYFIP1 ; TUBGCP5 genes ; Prader-Willi and Angelman syndromes ; magnesium transporters and supplementation ; potential treatment options ; intellectual disability ; AMPA receptors ; NMDA receptors ; guanine nucleotide exchange factor ; synaptic plasticity ; Autism spectrum disorder ; ASD ; Obesity ; Overweight ; Body mass index ; BMI ; autism candidate genes ; synaptotagmin-like protein 4 (SYTL4) ; transmembrane protein 187 (TMEM187) ; SYTL4-protein structure ; STRING-protein-protein interaction ; expression profile ; microRNA- interactions ; autism spectrum disorders ; biological networks ; genomics ; multi-omics ; network diffusion ; data integration ; genetics ; quantitative traits ; stratification by trait severity ; heterogeneity reduction ; case-control association analysis ; fragile X syndrome ; RNA toxicity ; DNA methylation ; mosaicism ; pediatrics ; MS-QMA ; AmplideX ; cytokine ; monocyte ; β-glucan ; T cell cytokine ; trained immunity ; maternal immune activation ; epigenetics ; mice ; postnatal VPA injection ; SAM ; gene expression ; nanostring
    Language 0|e
    Size 1 electronic resource (256 pages)
    Publisher MDPI - Multidisciplinary Digital Publishing Institute
    Publishing place Basel
    Document type Book ; Online
    Note English ; Open Access
    HBZ-ID HT021608808
    ISBN 9783036536101 ; 3036536108
    Database ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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  3. Book ; Online: Genetics of Prader-Willi syndrome

    Butler, Merlin G. / Godler, David E.

    2022  

    Keywords Medicine ; Prader-Willi syndrome ; appetite treatment ; Caralluma fimbriata extract ; single-case ; thromboembolism ; risk factors ; vasculitis ; blood clots ; registry ; natural history ; age diagnosis ; obesity ; deletion ; uniparental disomy ; genetic syndrome ; mental illness ; psychosis ; major depressive illness ; obsessive-compulsive disorder ; autism ; eating disorder ; skin picking ; insurance health claims ; thrombosis ; pulmonary embolism ; deep venous thrombosis ; individuals with exogenous obesity ; confirmatory ICD-9 diagnostic codes ; Prader-Willi ; 15q11.2 ; SNORD116 ; atypical microdeletion ; food-related behavior ; childhood ; scoliosis ; kyphosis ; spinal deformities ; junctional kyphosis ; treatment options ; surgery ; bracing ; KATP channel activation ; hyperphagic obesity ; animal models ; weight ; BMI ; pediatric ; linear mixed models ; gut microbiota ; bacteria ; fungi ; diet ; hyperphagia ; cross-sectional ; games ; parents ; home ; exercise ; bone health ; Prader-Willi syndrome (PWS) ; PWS molecular classes ; PWS genetic subtype-phenotype correlations ; psychiatric behavioral phenotype ; growth hormone treatment ; pharmacogenetic testing ; cytochrome P450 enzymes ; drug interactions ; medication management ; n/a
    Language 0|e
    Size 1 electronic resource (224 pages)
    Publisher MDPI - Multidisciplinary Digital Publishing Institute
    Publishing place Basel
    Document type Book ; Online
    Note English ; Open Access
    HBZ-ID HT021621773
    ISBN 9783036550251 ; 3036550259
    Database ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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  4. Book ; Online ; E-Book: Management of Prader-Willi Syndrome

    Butler, Merlin Gene / Lee, Phillip / Whitman, Barbara Y.

    2022  

    Abstract: Part I: Diagnosis and Genetics of Prader-Willi Syndrome -- Clinical Findings and Natural History of Prader-Willi Syndrome -- Diagnostic Criteria for Prader-Willi Syndrome -- Molecular Genetic Findings in Prader-Willi Syndrome -- Laboratory Testing for ... ...

    Author's details Merlin G. Butler, Phillip D.K. Lee, Barbara Y. Whitman editors
    Abstract Part I: Diagnosis and Genetics of Prader-Willi Syndrome -- Clinical Findings and Natural History of Prader-Willi Syndrome -- Diagnostic Criteria for Prader-Willi Syndrome -- Molecular Genetic Findings in Prader-Willi Syndrome -- Laboratory Testing for Prader-Willi Syndrome -- Part II: Medical Physiology and Treatment of Prader-Willi Syndrome -- Medical Considerations in Prader-Willi Syndrome -- Gastrointestinal System, Obesity, and Body Composition -- Growth Hormone and Prader-Willi Syndrome -- Part III: Multidisciplinary Management of Prader-Willi Syndrome -- Neurodevelopmental and Neuropsychological Aspects of Prader-Willi Syndrome -- Speech and Language Disorders Associated with Prader-Willi Syndrome -- Motor and Developmental Interventions for Prader-Willi Syndrome -- Educational Considerations for Children with Prader-Willi Syndrome -- Tools for Psychological and Behavioral Management with Prader-Willi Syndrome -- Educational and Social Issues for Adolescents with Prader-Willi Syndrome -- Transition from Adolescence to Young Adulthood: The Special Case of Prader-Willi Syndrome -- Vocational Training for People with Prader-Willi Syndrome -- Residential Care for Adults with Prader-Willi Syndrome -- Inpatient Crisis Intervention for Persons with Prader-Willi Syndrome -- Social Work Interventions: Advocacy and Support for Families with Prader-Willi Syndrome -- A National Approach to Crisis Intervention and Advocacy with Prader-Willi Syndrome -- Advocacy Issues with Prader-Willi Syndrome: School Discipline and Expulsion -- Advocacy Issues with Prader-Willi Syndrome: Sexuality.

    Now in a fully revised and updated fourth edition, this book remains the most comprehensive resource on Prader-Willi syndrome (PWS) available on the market. There have been significant changes in the diagnosis, clinical care and treatment of PWS since the previous edition was published in 2006, and more thorough information on understanding the cause and diagnosis of the condition, along with clinical presentation and findings with natural history data now available. The book is divided into three thematic sections. Part One discusses the genetics, diagnosis, research and overview of PWS, including current laboratory testing. The medical physiology and treatment of PWS comprise Part Two, covering the GI system, obesity as well as the use of growth hormone. Part Three, the largest section, presents a wide-ranging, multidisciplinary management approach to PWS, attending to the many manifestations of the condition. Topics here include neurodevelopmental aspects, speech and language disorders, motor issues, psychological and behavioral management, educational and transitional considerations, vocational training and residential care, and advocacy for both school discipline and sexuality. Syndrome-specific growth charts, benefits eligibility information and additional resources are included in helpful appendices. Timely and well-crafted, this latest edition of Management of Prader-Willi Syndrome remains the gold standard for clinicians and health care providers working with patients diagnosed with this rare obesity-related genetic disorder.
    Keywords Endocrinology ; Pediatrics ; Psychiatry ; Prader-Willi Syndrome
    Language English
    Size 1 Online-Ressource (x, 541 Seiten), Illustrationen
    Edition Fourth edition
    Publisher Springer
    Publishing place Cham
    Publishing country Switzerland
    Document type Book ; Online ; E-Book
    Remark Zugriff für angemeldete ZB MED-Nutzerinnen und -Nutzer
    HBZ-ID HT021578581
    ISBN 978-3-030-98171-6 ; 9783030981709 ; 9783030981723 ; 9783030981730 ; 3-030-98171-1 ; 3030981703 ; 303098172X ; 3030981738
    DOI 10.1007/978-3-030-98171-6
    Database ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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  5. Book ; Online: The Identification of the Genetic Components of Autism Spectrum Disorders 2017

    Butler, Merlin G.

    2017  

    Abstract: This textbook is dedicated to the study of genetic factors contributing to autism and includes a collection of original research and review articles related to this topic. Autism spectrum disorders (ASD) include a collection of neurodevelopmental ... ...

    Abstract This textbook is dedicated to the study of genetic factors contributing to autism and includes a collection of original research and review articles related to this topic. Autism spectrum disorders (ASD) include a collection of neurodevelopmental disorders characterized by three recognized behavioral domains involving difficulties in communication, social interaction and repetitive behavior. ASD affects 1 to 2 percent of children and is on the increase worldwide. Significant genetic contributions and mechanisms underlie the causation of ASD. Advances in genetic technology and better awareness have led to a diagnosis of 50 to 70 percent of individuals with ASD primarily due to chromosomal abnormalities, submicroscopic deletions or duplications now identified with high-resolution microarray analysis, next-generation DNA (exome) sequencing of gene variants or mutations, recognized single gene disorders or metabolic disturbances. Through discovery by searching genomic databases and peer-reviewed research articles, nearly 800 genes have been identified to contribute to ASD. Highlights in the field of autism research, discovery and identification of genetic components with characterization will be addressed. Furthermore, reviews of current understanding of the causes and diagnostic approaches for ASD and related syndromes will be presented along with discussion of psychiatric/behavior comorbidities and related features, environmental risk factors, parental attitudes and treatment
    Keywords Biology (General)
    Size 1 electronic resource (X, 462 p.)
    Publisher MDPI - Multidisciplinary Digital Publishing Institute
    Document type Book ; Online
    Note English ; Open Access
    HBZ-ID HT020096101
    ISBN 9783038425205 ; 9783038425212 ; 3038425206 ; 3038425214
    Database ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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  6. Article ; Online: Prader-Willi Syndrome and Chromosome 15q11.2 BP1-BP2 Region: A Review.

    Butler, Merlin G

    International journal of molecular sciences

    2023  Volume 24, Issue 5

    Abstract: Prader-Willi syndrome (PWS) is a complex genetic disorder with three PWS molecular genetic classes and presents as severe hypotonia, failure to thrive, hypogonadism/hypogenitalism and developmental delay during infancy. Hyperphagia, obesity, learning and ...

    Abstract Prader-Willi syndrome (PWS) is a complex genetic disorder with three PWS molecular genetic classes and presents as severe hypotonia, failure to thrive, hypogonadism/hypogenitalism and developmental delay during infancy. Hyperphagia, obesity, learning and behavioral problems, short stature with growth and other hormone deficiencies are identified during childhood. Those with the larger 15q11-q13 Type I deletion with the absence of four non-imprinted genes (
    MeSH term(s) Humans ; Carrier Proteins/genetics ; Chromosomes ; Chromosomes, Human, Pair 15 ; Magnesium ; Prader-Willi Syndrome/genetics
    Chemical Substances Carrier Proteins ; Magnesium (I38ZP9992A)
    Language English
    Publishing date 2023-02-21
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms24054271
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article: Behavioral and Psychiatric Disorders in Syndromic Autism.

    Genovese, Ann C / Butler, Merlin G

    Brain sciences

    2024  Volume 14, Issue 4

    Abstract: Syndromic autism refers to autism spectrum disorder diagnosed in the context of a known genetic syndrome. The specific manifestations of any one of these syndromic autisms are related to a clinically defined genetic syndrome that can be traced to certain ...

    Abstract Syndromic autism refers to autism spectrum disorder diagnosed in the context of a known genetic syndrome. The specific manifestations of any one of these syndromic autisms are related to a clinically defined genetic syndrome that can be traced to certain genes and variants, genetic deletions, or duplications at the chromosome level. The genetic mutations or defects in single genes associated with these genetic disorders result in a significant elevation of risk for developing autism relative to the general population and are related to recurrence with inheritance patterns. Additionally, these syndromes are associated with typical behavioral characteristics or phenotypes as well as an increased risk for specific behavioral or psychiatric disorders and clinical findings. Knowledge of these associations helps guide clinicians in identifying potentially treatable conditions that can help to improve the lives of affected patients and their families.
    Language English
    Publishing date 2024-03-30
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2651993-8
    ISSN 2076-3425
    ISSN 2076-3425
    DOI 10.3390/brainsci14040343
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Book: Management of Prader Willi Syndrome

    Butler, Merlin Gene

    2006  

    Title variant Management of Prader-Willi Syndrome ; Prader-Willi
    Author's details Merlin G. Butler ... ed
    Language English
    Size XXIII, 550 S. : Ill., graph. Darst.
    Edition 3. ed.
    Publisher Springer
    Publishing place New York, NY
    Publishing country Germany
    Document type Book
    HBZ-ID HT014716563
    ISBN 0387-25397-1 ; 0-387-25397-1 ; 978-0-387-25397-8 ; 978-0387-25397-8
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    2006 A 2254 order for loan Magazin

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  9. Article ; Online: Prader–Willi Syndrome and Chromosome 15q11.2 BP1-BP2 Region

    Merlin G. Butler

    International Journal of Molecular Sciences, Vol 24, Iss 4271, p

    A Review

    2023  Volume 4271

    Abstract: ... obsessive-compulsive disorder (OCD) and autism may occur with other clinical findings recognized as Burnside–Butler syndrome ...

    Abstract Prader–Willi syndrome (PWS) is a complex genetic disorder with three PWS molecular genetic classes and presents as severe hypotonia, failure to thrive, hypogonadism/hypogenitalism and developmental delay during infancy. Hyperphagia, obesity, learning and behavioral problems, short stature with growth and other hormone deficiencies are identified during childhood. Those with the larger 15q11-q13 Type I deletion with the absence of four non-imprinted genes ( NIPA1, NIPA2, CYFIP1, TUBGCP5 ) from the 15q11.2 BP1-BP2 region are more severely affected compared with those with PWS having a smaller Type II deletion. NIPA1 and NIPA2 genes encode magnesium and cation transporters, supporting brain and muscle development and function, glucose and insulin metabolism and neurobehavioral outcomes. Lower magnesium levels are reported in those with Type I deletions. The CYFIP1 gene encodes a protein associated with fragile X syndrome. The TUBGCP5 gene is associated with attention-deficit hyperactivity disorder (ADHD) and compulsions, more commonly seen in PWS with the Type I deletion. When the 15q11.2 BP1-BP2 region alone is deleted, neurodevelopment, motor, learning and behavioral problems including seizures, ADHD, obsessive-compulsive disorder (OCD) and autism may occur with other clinical findings recognized as Burnside–Butler syndrome. The genes in the 15q11.2 BP1-BP2 region may contribute to more clinical involvement and comorbidities in those with PWS and Type I deletions.
    Keywords Prader–Willi syndrome (PWS) ; PWS molecular genetic classes ; typical 15q11-q13 Type I ; Type II deletions ; 15q11.2 BP1-BP2 deletion ; clinical findings ; Biology (General) ; QH301-705.5 ; Chemistry ; QD1-999
    Subject code 610
    Language English
    Publishing date 2023-02-01T00:00:00Z
    Publisher MDPI AG
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

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  10. Book: Genetics of developmental disabilities

    Butler, Merlin Gene

    (Pediatric habilitation ; 13)

    2005  

    Author's details ed. by Merlin G. Butler
    Series title Pediatric habilitation ; 13
    Collection
    Keywords Developmental Disabilities ; Developmental Disabilities / genetics ; Mental Retardation ; Chromosome Aberrations ; Child
    Language English
    Size XXIII, 886, [6] S. : zahlr. Ill., graph. Darst.
    Publisher Taylor & Francis
    Publishing place Boca Raton u.a.
    Publishing country United States
    Document type Book
    HBZ-ID HT014327954
    ISBN 978-0-8247-5813-4 ; 0-8247-5813-7
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    2005 A 2288 order for loan Magazin

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