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A Personalized Medicine Approach to the Diagnosis and Management of Autism Spectrum Disorder
| A Personalized Medicine Approach to the Diagnosis and Management of Autism Spectrum Disorder |
| Autore | Frye Richard E |
| Pubbl/distr/stampa | Basel, : MDPI Books, 2022 |
| Descrizione fisica | 1 electronic resource (416 p.) |
| Soggetto topico |
Medicine
Neurosciences |
| Soggetto non controllato |
fecal metabolites
ASD microbiome gastrointestinal symptoms Fisher Discriminant Analysis digital biomarkers wearables time series analysis autism social dyads socio-motor parameters network connectivity non-linear complex dynamics stochastic analysis autism spectrum disorders copy number variants females Array-Comparative Genomic Hybridization (Array-CGH) autism spectrum disorder Ehlers-Danlos syndrome hypermobility spectrum disorders autonomic disorder mast cell activation syndrome genetic testing chromosomal microarray analysis whole exome sequencing whole genome sequencing clinical utility polygenic risk scores Temple Grandin biomarker omics precision medicine proteomics transcriptomics epigenetics metabolomics patient stratification mitochondria oxidative stress prenatal environment immune dysfunction immunoglobulin G intravenous immunoglobulin energy metabolism fatty acid oxidation acyl-carnitines resveratrol integrative model concomitant condition disorder autism spectrum disorder (ASD) genomics personalized treatment strategy single nucleotide polymorphisms clinical decision support tool ADHD PANDAS OCD anxiety folate receptor alpha folates pregnancy brain development fetal development cobalamin glutathione methylation methylcobalamin redox metabolism locked-in network syndrome resting-state functional magnetic resonance imaging temporal lobe epilepsy amygdala brain COVID-19 children cytokines flavonoids inflammation luteolin mast cells microglia SARS-CoV-2 stress nutraceuticals survey vitamins minerals B12 folinic acid quality of life parents intervention systematic review medical claims logistic regression analysis retrospective analysis associated risk monoamine neurotransmitters neurotransmitter deficiency cerebral folate deficiency folate receptor alpha autoantibodies leucovorin α-amylase cortisol heart rate variability neuromodulation sleep anxiety transdermal electrical neuromodulation neurostimulation |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910595075503321 |
Frye Richard E
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| Basel, : MDPI Books, 2022 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Characterization and Clinical Management of Dilated Cardiomyopathy
| Characterization and Clinical Management of Dilated Cardiomyopathy |
| Autore | Merlo Marco |
| Pubbl/distr/stampa | Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2021 |
| Descrizione fisica | 1 electronic resource (232 p.) |
| Soggetto topico | Medicine |
| Soggetto non controllato |
SCN5A
cardiac sodium channel cardiac channelopathy dilated cardiomyopathy precision medicine arrhythmias atrial fibrillation cardiomyopathy heart failure supraventricular arrhythmia systolic dysfunction tachycardiomyopathy ventricular arrhythmia left atrial strain cardiac resynchronization therapy muscular dystrophy calcium heart gene therapy phospholamban Serca2a mdx oxidative stress membrane stabilization left ventricular noncompaction congenital heart disease congestive heart failure non-ischemic cardiomyopathy genetics desmin mitochondrial dysfunction myopathy whole exome sequencing laminopathy LMNA biomarkers troponin T NT-proBNP malignant ventricular arrhythmia arrhythmic risk stratification DNA methylation alternative splicing epigenetics nonischemic dilated cardiomyopathy cardiac magnetic resonance imaging late gadolinium enhancement long axis strain left ventricle sphericity index major adverse cardiovascular events sex differences left ventricular reverse remodelling long-term outcomes left ventricle non-compaction cardiomyopathy cardiac magnetic resonance titin RNA binding motif protein 20 (RBM20) sarcomere diastolic dysfunction phosphorylation non-sense mRNA decay mammalian target of rapamycin (mTOR) complex-1 duchenne muscular distrophy |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910557595503321 |
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Merlo Marco
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| Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2021 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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EmbryoGenetics
| EmbryoGenetics |
| Autore | Simón Carlos |
| Pubbl/distr/stampa | Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2021 |
| Descrizione fisica | 1 electronic resource (176 p.) |
| Soggetto topico | Research & information: general |
| Soggetto non controllato |
extracellular vesicles
exosomes microvesicles apoptotic bodies DNA preimplantation embryos murine blastocysts embryo uterus window of implantation PGT-A PGT-SR mosaicism embryo genetics chromosomal abnormality preimplantation genetic testing PGT-P polygenic risk scoring genomic index relative risk reduction combined preimplantation genetic testing Preimplantation genetic testing for monogenic disorders (PGT-M) Preimplantation genetic testing for aneuploidy assessment (PGT-A) Autosomal dominant polycystic kidney disease (ADPKD) male infertility advanced maternal age aneuploidy NGS segmental translocations monogenic disease multiplex PCR SNP array genome editing genetic diseases embryos vitrification ovarian response female age genetic testing reproductive health next-generation sequencing whole exome sequencing perinatal care infertility aneuploidies polygenic disease blastocyst endometrium implantation |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910557725303321 |
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Simón Carlos
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| Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2021 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Genetic Conditions Affecting the Skeleton : Congenital, Idiopathic Scoliosis and Arthrogryposis
| Genetic Conditions Affecting the Skeleton : Congenital, Idiopathic Scoliosis and Arthrogryposis |
| Autore | Giampietro Philip |
| Pubbl/distr/stampa | Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 |
| Descrizione fisica | 1 electronic resource (172 p.) |
| Soggetto topico |
Research & information: general
Biology, life sciences Genetics (non-medical) |
| Soggetto non controllato |
spinal curvatures
scoliosis idiopathic DNA methylation pyrosequencing estrogen receptor 1 ESR1 scoliosis progression adolescent idiopathic scoliosis idiopathic scoliosis exome sequencing spine polygenic variants musculoskeletal disease cytoskeleton extracellular matrix contracture arthrogryposis congenital POC5 cilia genetics spine deformity genetic predisposition complex trait model animal genome wide association study genetic linkage study Amyoplasia DECIPHER (DatabasE of genomiC variation and Phenotype in Humans using Ensemble Resources) CNV (copy number variant) DA (distal arthrogryposis) IPA (ingenuity pathway analysis) HPO (human phenotype ontology) akinesia MYOD IGF2 FGFR1 (Fibroblast growth factor receptor 1) genetic variations congenital scoliosis monozygotic twin epigenome-wide association study bone discordant curve severity differentially methylated region congenital vertebral malformation copy number variant CNV CHRNG distal arthrogryposis type 8 Escobar multiple pterygium syndrome MYH3 protein tyrosine kinase 7 (PTK7) whole exome sequencing |
| ISBN | 3-0365-5976-0 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Altri titoli varianti | Genetic Conditions Affecting the Skeleton |
| Record Nr. | UNINA-9910639995403321 |
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Giampietro Philip
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| Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Genetic Testing for Rare Diseases
| Genetic Testing for Rare Diseases |
| Autore | Millán José |
| Pubbl/distr/stampa | Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 |
| Descrizione fisica | 1 electronic resource (144 p.) |
| Soggetto topico | Medicine |
| Soggetto non controllato |
retina
inherited retinal diseases syndrome Turner syndrome mosaicism ring chromosomes growth hormone deficiency pituitary microadenoma clinical genetics early onset ataxia dystonia neurodevelopment network analysis bioinformatics ataxia phenotype child NGS next generation sequencing inborn errors of metabolism lysosomal disorders neuromuscular disease genetic testing whole exome sequencing Prader-Willi syndrome imprinting disorder recombinant human growth hormone insulin-like growth factor 1 HMGLD HMGCL HMG-CoA lyase deficiency inherited metabolic diseases familial hearing loss multiple diagnoses non-syndromic hearing loss ACTG1 MYH9 genetic counselling rare diseases professional recognition hearing loss genetic diagnosis SLC26A4 DFNB4 Tuvinians Altaians Southern Siberia Russia GSDME DFNA5 single-exon CNV |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910566479203321 |
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Millán José
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| Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Pharmacogenomics and Personalized Medicine
| Pharmacogenomics and Personalized Medicine |
| Autore | Cecchin Erika |
| Pubbl/distr/stampa | Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2020 |
| Descrizione fisica | 1 electronic resource (208 p.) |
| Soggetto topico | Medicine |
| Soggetto non controllato |
CYP2C9
VKORC1 warfarin warfarin initiation phase of therapy INR pharmacogenetics study pharmacogenomics pharmacogenetics genotype phenotype alleles precision medicine pharmacotranscriptomics high-throughput analysis childhood acute lymphoblastic leukemia clopidogrel acenocoumarol CDSS implementation azathioprine inflammatory bowel disease glutathione-S transferase pharmacokinetics nucleoside analogs microRNAs gene expression drug resistance AML cisplatin nephrotoxicity kidney injury genetic polymorphisms pre-emptive panel breast cancer subtype miRNA pathway crosstalk network precision drugs ovarian cancer platinum resistance focal copy number alterations whole exome sequencing personalized medicine human genetics pharmacology |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910557287703321 |
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Cecchin Erika
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| Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2020 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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