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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 - Multidisciplinary Digital Publishing Institute, 2022 |
| Descrizione fisica | 1 online resource (416 p.) |
| Soggetto topico |
Medicine and Nursing
Neurosciences |
| Soggetto non controllato |
acyl-carnitines
ADHD amygdala anxiety Array-Comparative Genomic Hybridization (Array-CGH) ASD associated risk autism autism spectrum disorder autism spectrum disorder (ASD) autism spectrum disorders autonomic disorder B12 biomarker brain brain development cerebral folate deficiency children chromosomal microarray analysis clinical decision support tool clinical utility cobalamin concomitant condition copy number variants cortisol COVID-19 cytokines digital biomarkers disorder Ehlers-Danlos syndrome energy metabolism epigenetics fatty acid oxidation fecal metabolites females fetal development Fisher Discriminant Analysis flavonoids folate receptor alpha folate receptor alpha autoantibodies folates folinic acid gastrointestinal symptoms genetic testing genomics glutathione heart rate variability hypermobility spectrum disorders immune dysfunction immunoglobulin G inflammation integrative intervention intravenous immunoglobulin leucovorin locked-in network syndrome logistic regression analysis luteolin mast cell activation syndrome mast cells medical claims metabolomics methylation methylcobalamin microbiome microglia minerals mitochondria model monoamine neurotransmitters n/a network connectivity neuromodulation neurostimulation neurotransmitter deficiency non-linear complex dynamics nutraceuticals OCD omics oxidative stress PANDAS parents patient stratification personalized treatment strategy polygenic risk scores precision medicine pregnancy prenatal environment proteomics quality of life redox metabolism resting-state functional magnetic resonance imaging resveratrol retrospective analysis SARS-CoV-2 single nucleotide polymorphisms sleep anxiety social dyads socio-motor parameters stochastic analysis stress survey systematic review Temple Grandin temporal lobe epilepsy time series analysis transcriptomics transdermal electrical neuromodulation vitamins wearables whole exome sequencing whole genome sequencing α-amylase |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910595075503321 |
Frye Richard E
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| Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 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 online resource (232 p.) |
| Soggetto topico | Medicine |
| Soggetto non controllato |
alternative splicing
arrhythmias arrhythmic risk stratification atrial fibrillation biomarkers calcium cardiac channelopathy cardiac magnetic resonance cardiac magnetic resonance imaging cardiac resynchronization therapy cardiac sodium channel cardiomyopathy congenital heart disease congestive heart failure desmin diastolic dysfunction dilated cardiomyopathy DNA methylation duchenne muscular distrophy epigenetics gene therapy genetics heart heart failure laminopathy late gadolinium enhancement left atrial strain left ventricle non-compaction cardiomyopathy left ventricle sphericity index left ventricular noncompaction left ventricular reverse remodelling LMNA long axis strain long-term outcomes major adverse cardiovascular events malignant ventricular arrhythmia mammalian target of rapamycin (mTOR) complex-1 mdx membrane stabilization mitochondrial dysfunction muscular dystrophy myopathy n/a non-ischemic cardiomyopathy non-sense mRNA decay nonischemic dilated cardiomyopathy NT-proBNP oxidative stress phospholamban phosphorylation precision medicine RNA binding motif protein 20 (RBM20) sarcomere SCN5A Serca2a sex differences supraventricular arrhythmia systolic dysfunction tachycardiomyopathy titin troponin T ventricular arrhythmia whole exome sequencing |
| 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 online resource (176 p.) |
| Soggetto topico | Research and information: general |
| Soggetto non controllato |
advanced maternal age
aneuploidies aneuploidy apoptotic bodies Autosomal dominant polycystic kidney disease (ADPKD) blastocyst chromosomal abnormality combined preimplantation genetic testing DNA embryo embryo genetics embryos endometrium exosomes extracellular vesicles female age genetic diseases genetic testing genome editing genomic index implantation infertility male infertility microvesicles monogenic disease mosaicism multiplex PCR murine blastocysts next-generation sequencing NGS ovarian response perinatal care PGT-A PGT-P PGT-SR polygenic disease polygenic risk scoring preimplantation embryos preimplantation genetic testing Preimplantation genetic testing for aneuploidy assessment (PGT-A) Preimplantation genetic testing for monogenic disorders (PGT-M) relative risk reduction reproductive health segmental SNP array translocations uterus vitrification whole exome sequencing window of 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 online resource (144 p.) |
| Soggetto topico | Medicine and Nursing |
| Soggetto non controllato |
ACTG1
Altaians ataxia bioinformatics child clinical genetics DFNA5 DFNB4 dystonia early onset ataxia familial hearing loss genetic counselling genetic diagnosis genetic testing growth hormone deficiency GSDME hearing loss HMG-CoA lyase deficiency HMGCL HMGLD imprinting disorder inborn errors of metabolism inherited metabolic diseases inherited retinal diseases insulin-like growth factor 1 lysosomal disorders mosaicism multiple diagnoses MYH9 n/a network analysis neurodevelopment neuromuscular disease next generation sequencing NGS non-syndromic hearing loss phenotype pituitary microadenoma Prader-Willi syndrome professional recognition rare diseases recombinant human growth hormone retina ring chromosomes Russia single-exon CNV SLC26A4 Southern Siberia syndrome Turner syndrome Tuvinians whole exome sequencing |
| 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 online resource (208 p.) |
| Soggetto topico | Medicine |
| Soggetto non controllato |
acenocoumarol
alleles AML azathioprine breast cancer subtype CDSS childhood acute lymphoblastic leukemia cisplatin clopidogrel crosstalk network CYP2C9 drug resistance focal copy number alterations gene expression genetic polymorphisms genotype glutathione-S transferase high-throughput analysis human genetics implementation inflammatory bowel disease INR kidney injury microRNAs miRNA nephrotoxicity nucleoside analogs ovarian cancer panel pathway personalized medicine pharmacogenetics pharmacogenetics study pharmacogenomics pharmacokinetics pharmacology pharmacotranscriptomics phenotype platinum resistance pre-emptive precision drugs precision medicine VKORC1 warfarin warfarin initiation phase of therapy whole exome sequencing |
| 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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