Info
- Utilizzare la checkbox di selezione a fianco di ciascun documento per attivare le funzionalità di stampa, invio email, download nei formati disponibili del (i) record.
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
|
||
| Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
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 |
|
Southgate Laura
|
||
| Basel, : MDPI Books, 2022 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
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 electronic resource (204 p.) |
| Soggetto topico |
Research & information: general
Biology, life sciences Genetics (non-medical) |
| Soggetto non controllato |
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 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910566463603321 |
|
Butler Merlin G
|
||
| Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
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 electronic resource (162 p.) |
| Soggetto topico | Medicine |
| Soggetto non controllato |
advanced gastric cancer
precision medicine new drug development gastro-oesophageal cancer mutational concordance exome sequencing formalin fixed paraffin embedded biomarkers gastric cancer metastatic body composition sarcopenia visceral fat area subcutaneous fat area outcome toxicity liver metastasis conversion surgery hepatectomy stage iv gastric cancer immune checkpoint inhibitors Epstein Barr Virus tumor mutational burden microsatellite instability predictive biomarkers CAR T cell therapy vaccines nutritional status metastatic gastric cancer target therapy bone flare stage IV treatment RANK-L liquid biopsy circulating tumor cell cfDNA ctDNA epithelial-mesenchymal transition resistance to treatment HER2-inhibition VEGFR-inhibition immunotherapy response monitoring |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910557390503321 |
|
Petrillo Angelica
|
||
| Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2021 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||