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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 |
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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Genetics and Genomics of Pulmonary Arterial Hypertension
| Genetics and Genomics of Pulmonary Arterial Hypertension |
| Autore | Southgate Laura |
| Pubbl/distr/stampa | Basel, : MDPI Books, 2022 |
| Descrizione fisica | 1 electronic resource (188 p.) |
| Soggetto topico |
Research & information: general
Biology, life sciences Genetics (non-medical) |
| Soggetto non controllato |
pulmonary arterial hypertension
massive parallel sequencing NGS digenic inheritance and genetics BMPR2 promoter pathogenic variant heritable pulmonary arterial hypertension genetic analysis NGS gene panel BMPR2 TBX4 GDF2 EIF2AK4 genomics pediatrics lung disease endothelial cells smooth muscle cells DNA damage DNA repair expression quantitative trait locus eQTL blood genetics exome sequencing molecular genetics paediatrics bone morphogenetic protein receptor type 2 heritable familial estrogen estradiol penetrance gender PAH forward phenotyping forward genetics reverse genetics reverse phenotyping intermediate phenotypes whole-genome sequencing epigenetic inheritance genetic heterogeneity phenotypic heterogeneity pulmonary hypertension bone morphogenetic protein receptor 2 signaling repurposed drugs pharmaceuticals miRNA clinical trials |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910595078603321 |
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Southgate Laura
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| Basel, : MDPI Books, 2022 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Identification and Characterization of Genetic Components in Autism Spectrum Disorders 2020
| Identification and Characterization of Genetic Components in Autism Spectrum Disorders 2020 |
| Autore | Butler Merlin G |
| Pubbl/distr/stampa | Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 |
| Descrizione fisica | 1 online resource (204 p.) |
| Soggetto topico |
Biology, life sciences
Genetics (non-medical) Research & information: general |
| Soggetto non controllato |
15q11.2 BP1-BP2 deletion
22q13.3 duplication ASD assessment ASSR auditory event-related potential auditory steady-state response autism autism spectrum disorder autism spectrum disorders autism spectrum disorders (ASDs) bioinformatics biomarker Broader Autism Phenotype Burnside-Butler syndrome CACNA1C causes CaV1.2 clinical decision support systems (CDSSs) clinical findings CNV cognition dental enamel defect disease biomarkers DNA methylation environmental factors epigenetic factors ERP exome sequencing gene fusion genetic genetic factors genetics genomic characterization heterogeneity human genetics intellectual disabilities interactomics medications metabolomics multiplex family neuropsychiatric behavior development pervasive developmental disorder pharmacogenomics phenotypic subgroups stratified by ASD severity post-synaptic density protein-protein interaction proteomics SHANK3 short QT syndrome simplex families SNP subgroup-associated genes and biological functions syndromes treatment |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910566463603321 |
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Butler Merlin G
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| Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Multimodality Treatments in Metastatic Gastric Cancer
| Multimodality Treatments in Metastatic Gastric Cancer |
| Autore | Petrillo Angelica |
| Pubbl/distr/stampa | Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2021 |
| Descrizione fisica | 1 online resource (162 p.) |
| Soggetto topico | Medicine |
| Soggetto non controllato |
advanced gastric cancer
biomarkers body composition bone flare CAR T cell therapy cfDNA circulating tumor cell conversion surgery ctDNA epithelial-mesenchymal transition Epstein Barr Virus exome sequencing formalin fixed paraffin embedded gastric cancer gastro-oesophageal cancer hepatectomy HER2-inhibition immune checkpoint inhibitors immunotherapy liquid biopsy liver metastasis metastatic metastatic gastric cancer microsatellite instability mutational concordance n/a new drug development nutritional status outcome precision medicine predictive biomarkers RANK-L resistance to treatment response monitoring sarcopenia stage IV stage iv gastric cancer subcutaneous fat area target therapy toxicity treatment tumor mutational burden vaccines VEGFR-inhibition visceral fat area |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910557390503321 |
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Petrillo Angelica
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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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