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Mental retardation and developmental delay [[electronic resource] ] : genetic and epigenetic factors / / Moyra Smith
| Mental retardation and developmental delay [[electronic resource] ] : genetic and epigenetic factors / / Moyra Smith |
| Autore | Smith Moyra |
| Pubbl/distr/stampa | New York, N.Y., : Oxford University Press, 2006 |
| Descrizione fisica | 1 online resource (338 p.) |
| Disciplina | 616.8588042 |
| Altri autori (Persone) |
ArfinStuart M
LottIra T |
| Collana | Oxford Monographs on Medical Genetics |
| Soggetto topico |
Intellectual disability - Etiology
Intellectual disability - Genetic aspects Developmental disabilities - Etiology Developmental disabilities - Genetic aspects |
| Soggetto genere / forma | Electronic books. |
| ISBN |
1-280-84391-8
0-19-803885-2 |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
Contents; Contributors; Introduction; 1 Science, Society, and Mental Retardation: A History; 2 Neurogenesis, Neuronal Migration, Maturation, and Function: Insights into Learning and Memory; 3 Structural Brain Anomalies and Neural Tube Defects; 4 Mental Retardation Associated with Dysmorphology, Growth Retardation, or Overgrowth; 5 Mental Retardation Associated with Other Neurological Defects; 6 Mental Retardation That Develops after a Period of Normal Cognition; 7 Nonsyndromic Mental Retardation, Autism, and Language Deficits
8 Genomics, Functional Genomics, and Epigenetics: Relevance to Mental Retardation9 Establishing a Diagnosis and Determining Etiology in Developmental Delay and Mental Retardation; 10 Epilogue: The Value of Genetic Diagnosis-Applying Knowledge about Etiology to Prevention and Treatment; References; Index |
| Record Nr. | UNINA-9910453598203321 |
Smith Moyra
|
||
| New York, N.Y., : Oxford University Press, 2006 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Mental retardation and developmental delay [[electronic resource] ] : genetic and epigenetic factors / / Moyra Smith
| Mental retardation and developmental delay [[electronic resource] ] : genetic and epigenetic factors / / Moyra Smith |
| Autore | Smith Moyra |
| Pubbl/distr/stampa | New York, N.Y., : Oxford University Press, 2006 |
| Descrizione fisica | 1 online resource (338 p.) |
| Disciplina | 616.8588042 |
| Altri autori (Persone) |
ArfinStuart M
LottIra T |
| Collana | Oxford Monographs on Medical Genetics |
| Soggetto topico |
Intellectual disability - Etiology
Intellectual disability - Genetic aspects Developmental disabilities - Etiology Developmental disabilities - Genetic aspects |
| ISBN |
0-19-770759-9
1-280-84391-8 0-19-803885-2 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
Contents; Contributors; Introduction; 1 Science, Society, and Mental Retardation: A History; 2 Neurogenesis, Neuronal Migration, Maturation, and Function: Insights into Learning and Memory; 3 Structural Brain Anomalies and Neural Tube Defects; 4 Mental Retardation Associated with Dysmorphology, Growth Retardation, or Overgrowth; 5 Mental Retardation Associated with Other Neurological Defects; 6 Mental Retardation That Develops after a Period of Normal Cognition; 7 Nonsyndromic Mental Retardation, Autism, and Language Deficits
8 Genomics, Functional Genomics, and Epigenetics: Relevance to Mental Retardation9 Establishing a Diagnosis and Determining Etiology in Developmental Delay and Mental Retardation; 10 Epilogue: The Value of Genetic Diagnosis-Applying Knowledge about Etiology to Prevention and Treatment; References; Index |
| Record Nr. | UNINA-9910782341703321 |
|
Smith Moyra
|
||
| New York, N.Y., : Oxford University Press, 2006 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Mental retardation and developmental delay : genetic and epigenetic factors / / Moyra Smith
| Mental retardation and developmental delay : genetic and epigenetic factors / / Moyra Smith |
| Autore | Smith Moyra |
| Edizione | [1st ed.] |
| Pubbl/distr/stampa | New York, N.Y., : Oxford University Press, 2006 |
| Descrizione fisica | 1 online resource (338 p.) |
| Disciplina | 616.8588042 |
| Altri autori (Persone) |
ArfinStuart M
LottIra T |
| Collana | Oxford scholarship online |
| Soggetto topico |
Intellectual disability - Etiology
Intellectual disability - Genetic aspects Developmental disabilities - Etiology Developmental disabilities - Genetic aspects |
| ISBN |
0-19-770759-9
1-280-84391-8 0-19-803885-2 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Science, society, and mental retardation: a history -- Neurogenesis, neuronal migration, maturation, and function: insights into learning and memory -- Structural brain anomalies and neural tube defects -- Mental retardation associated with dysmorphology, growth retardation, or overgrowth -- Mental retardation associated with other neurological defects -- Mental retardation that develops after a period of normal cognition -- Non-syndromic mental retardation, autism, and language deficits -- Genomics, functional genomics, and epigenetics -- Establishing a diagnosis and determining etiology -- The value of genetic diagnosis: applying knowledge about etiology to prevention and treatment. |
| Record Nr. | UNINA-9910813355803321 |
|
Smith Moyra
|
||
| New York, N.Y., : Oxford University Press, 2006 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Seeking cures [[electronic resource] ] : design of therapies for genetically determined diseases / / Moyra Smith
| Seeking cures [[electronic resource] ] : design of therapies for genetically determined diseases / / Moyra Smith |
| Autore | Smith Moyra |
| Pubbl/distr/stampa | Oxford ; ; New York, : Oxford University Press, c2014 |
| Descrizione fisica | 1 online resource (311 p.) |
| Disciplina | 616/.042 |
| Soggetto topico |
Genetic disorders
Gene therapy |
| Soggetto genere / forma | Electronic books. |
| ISBN |
0-19-021309-4
0-19-991587-3 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
Cover; Contents; Preface; Acknowledgments; 1. Introduction and History; 2. Therapy: Design and General Approaches; 3. Inborn Errors of Metabolism: Progress in Diagnosis and Treatment; 4. Lysosomal Storage Diseases and Therapies; 5. Mitochondrial Function, Defects, and Approaches to Treatment; 6. Protein Misfolding, Endoplasmic Reticulum Stress, and Pathogenesis of Disease; 7. Transporters and Solute Carriers: Proteins That Transport Molecules Across Membranes; 8. Advances in Therapy for Specific Monogenic Diseases; 9. Identifying Therapeutic Targets in Complex, Multifactorial Diseases
10. Approaches to Cancer Treatment11. Gene-Based Molecular Therapies; 12. Stem Cells and Induced Pluripotent Stem Cells; Epilogue (Envoi); References; Index; A; B; C; D; E; F; G; H; I; J; K; L; M; N; O; P; Q; R; S; T; U; V; W; X; Y; Z |
| Record Nr. | UNINA-9910452945503321 |
|
Smith Moyra
|
||
| Oxford ; ; New York, : Oxford University Press, c2014 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Seeking cures [[electronic resource] ] : design of therapies for genetically determined diseases / / Moyra Smith
| Seeking cures [[electronic resource] ] : design of therapies for genetically determined diseases / / Moyra Smith |
| Autore | Smith Moyra |
| Pubbl/distr/stampa | Oxford ; ; New York, : Oxford University Press, c2014 |
| Descrizione fisica | 1 online resource (311 p.) |
| Disciplina | 616/.042 |
| Soggetto topico |
Genetic disorders
Gene therapy |
| ISBN |
0-19-021309-4
0-19-991587-3 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
Cover; Contents; Preface; Acknowledgments; 1. Introduction and History; 2. Therapy: Design and General Approaches; 3. Inborn Errors of Metabolism: Progress in Diagnosis and Treatment; 4. Lysosomal Storage Diseases and Therapies; 5. Mitochondrial Function, Defects, and Approaches to Treatment; 6. Protein Misfolding, Endoplasmic Reticulum Stress, and Pathogenesis of Disease; 7. Transporters and Solute Carriers: Proteins That Transport Molecules Across Membranes; 8. Advances in Therapy for Specific Monogenic Diseases; 9. Identifying Therapeutic Targets in Complex, Multifactorial Diseases
10. Approaches to Cancer Treatment11. Gene-Based Molecular Therapies; 12. Stem Cells and Induced Pluripotent Stem Cells; Epilogue (Envoi); References; Index; A; B; C; D; E; F; G; H; I; J; K; L; M; N; O; P; Q; R; S; T; U; V; W; X; Y; Z |
| Record Nr. | UNINA-9910779856903321 |
|
Smith Moyra
|
||
| Oxford ; ; New York, : Oxford University Press, c2014 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Seeking cures : design of therapies for genetically determined diseases / / Moyra Smith
| Seeking cures : design of therapies for genetically determined diseases / / Moyra Smith |
| Autore | Smith Moyra |
| Edizione | [1st ed.] |
| Pubbl/distr/stampa | Oxford ; ; New York, : Oxford University Press, c2014 |
| Descrizione fisica | 1 online resource (311 p.) |
| Disciplina | 616/.042 |
| Soggetto topico |
Genetic disorders
Gene therapy |
| ISBN |
0-19-021309-4
0-19-991587-3 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
Cover; Contents; Preface; Acknowledgments; 1. Introduction and History; 2. Therapy: Design and General Approaches; 3. Inborn Errors of Metabolism: Progress in Diagnosis and Treatment; 4. Lysosomal Storage Diseases and Therapies; 5. Mitochondrial Function, Defects, and Approaches to Treatment; 6. Protein Misfolding, Endoplasmic Reticulum Stress, and Pathogenesis of Disease; 7. Transporters and Solute Carriers: Proteins That Transport Molecules Across Membranes; 8. Advances in Therapy for Specific Monogenic Diseases; 9. Identifying Therapeutic Targets in Complex, Multifactorial Diseases
10. Approaches to Cancer Treatment11. Gene-Based Molecular Therapies; 12. Stem Cells and Induced Pluripotent Stem Cells; Epilogue (Envoi); References; Index; A; B; C; D; E; F; G; H; I; J; K; L; M; N; O; P; Q; R; S; T; U; V; W; X; Y; Z |
| Record Nr. | UNINA-9910821025803321 |
|
Smith Moyra
|
||
| Oxford ; ; New York, : Oxford University Press, c2014 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Translational research in genetics and genomics [[electronic resource] /] / Moyra Smith
| Translational research in genetics and genomics [[electronic resource] /] / Moyra Smith |
| Autore | Smith Moyra |
| Pubbl/distr/stampa | Oxford ; ; New York, : Oxford University Press, 2008 |
| Descrizione fisica | xiv, 220 p. : ill |
| Soggetto topico |
Medical genetics
Genomics |
| Soggetto genere / forma | Electronic books. |
| ISBN |
1-282-54418-7
9786612544187 0-19-971834-2 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910456500003321 |
|
Smith Moyra
|
||
| Oxford ; ; New York, : Oxford University Press, 2008 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Translational research in genetics and genomics [[electronic resource] /] / Moyra Smith
| Translational research in genetics and genomics [[electronic resource] /] / Moyra Smith |
| Autore | Smith Moyra |
| Pubbl/distr/stampa | Oxford ; ; New York, : Oxford University Press, 2008 |
| Descrizione fisica | xiv, 220 p. : ill |
| Soggetto topico |
Medical genetics
Genomics |
| ISBN |
0-19-770912-5
1-282-54418-7 9786612544187 0-19-971834-2 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910781175303321 |
|
Smith Moyra
|
||
| Oxford ; ; New York, : Oxford University Press, 2008 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Translational research in genetics and genomics / / Moyra Smith
| Translational research in genetics and genomics / / Moyra Smith |
| Autore | Smith Moyra |
| Edizione | [1st ed.] |
| Pubbl/distr/stampa | Oxford ; ; New York, : Oxford University Press, 2008 |
| Descrizione fisica | xiv, 220 p. : ill |
| Disciplina | 616/.042 |
| Collana | Oxford scholarship online |
| Soggetto topico |
Medical genetics
Genomics |
| ISBN |
0-19-029531-7
0-19-770912-5 1-282-54418-7 9786612544187 0-19-971834-2 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Intro -- Contents -- 1. Isolation of Disease Genes Through Genomics -- 2. Advances in Genome Analysis: Discovery of Structural Variation and Genomic Dosage Differences in Health and Disease -- 3. Significance of DNA Sequence Changes for Diagnosis and Therapy -- 4. Epigenetics -- 5. Complex Diseases: Molecular Genetic Contributions to Elucidation of Etiopathogenesis of Late-Onset Neurodegenerative Diseases -- 6. Advances in Treatment of Single Gene Disorders Through Translational Science: Treatment With Small Molecules (Chaperones) and Gene-Based Therapies -- 7. From Gene Discovery in Genetic Syndromes to Identification of Therapeutic Agents -- 8. Impact of the Environment on the Genome -- 9. Molecular Defects in Cancer: Application to Therapy -- 10. Pharmacogenetics and Pharmacogenomics -- 11. Phenomes, Phenotypes, and Clinical Genetic Services -- References -- Index -- A -- B -- C -- D -- E -- F -- G -- H -- I -- J -- K -- L -- M -- N -- O -- P -- R -- S -- T -- U -- V -- W -- X -- Y. |
| Record Nr. | UNINA-9910823405303321 |
|
Smith Moyra
|
||
| Oxford ; ; New York, : Oxford University Press, 2008 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Unravelling complexities in genetics and genomics : impact on diagnosis counseling and management / / Moyra Smith
| Unravelling complexities in genetics and genomics : impact on diagnosis counseling and management / / Moyra Smith |
| Autore | Smith Moyra |
| Pubbl/distr/stampa | New Jersey : , : World Scientific, , [2017] |
| Descrizione fisica | 1 online resource (430 pages) : color illustrations |
| Disciplina | 572.8/6 |
| Soggetto topico |
Genomics
Genetic counseling Disease management |
| ISBN | 981-4759-47-3 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Expanding insights into genes and expression -- Genomic integrity and relevance to disease -- Epigenetics and epigenomics -- Proteins, proteomics, protein folding and proteostasis -- Genotype-phenotype correlations and complexities -- Immune system -- Lipids, atherosclerosis, metabolic syndromes and diabetes -- Early-onset neurocognitive and neurobehavioral disorders -- Integrating advances in neurobiology and genetics into psychiatry -- Neurodegenerative diseases -- Cancer. |
| Record Nr. | UNINA-9910149708703321 |
|
Smith Moyra
|
||
| New Jersey : , : World Scientific, , [2017] | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||