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Diagnostic genetic testing : core concepts and the wider context for human DNA analysis / / David Bourn
| Diagnostic genetic testing : core concepts and the wider context for human DNA analysis / / David Bourn |
| Autore | Bourn David |
| Pubbl/distr/stampa | Cham, Switzerland : , : Springer, , [2022] |
| Descrizione fisica | 1 online resource (145 pages) |
| Disciplina | 573.21 |
| Soggetto topico |
Human genetics
Medicine Bioethics Genetic Testing Bioethical Issues Molecular Diagnostic Techniques |
| ISBN |
9783030855109
9783030855093 |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
Intro -- Foreword -- Preface -- Further Reading -- Laboratory Techniques -- Genetic Disorders -- General Overviews of Genomic Testing in Healthcare -- Patient Support Groups -- Acknowledgements -- Contents -- About the Author -- Abbreviations -- 1 Genetic Testing, Some Themes and Some Basics -- Genetic Testing -- Complexity: Genes and Environment -- Risk and Uncertainty -- DNA and Categorisation -- Future Promises and Concerns -- Genetics in Other Areas of Medicine -- Basic Concepts in Genetics -- DNA Stores Information that Can Be Copied -- Genomic Architecture -- Gene Function and Organisation Within Genomes -- Transcription, Translation and the Genetic Code -- Mutation -- Patterns of Inheritance: Autosomal Dominant and Autosomal Recessive -- X-linked Inheritance -- Some Basics of Genetic Testing -- Isolation of DNA -- Finding Mutations -- Finding a Complementary Sequence -- The Polymerase Chain Reaction and DNA Amplification -- Electrophoresis -- DNA Sequencing -- 2 Autosomal Dominant Inheritance and Huntington Disease -- Huntington Disease -- A Very Specific Genetic Error -- A Gain of Function -- Why Expansions? -- Determinism, but with Complications -- Anticipation -- Genetic Testing for HD -- Test Sensitivity and Specificity -- The Value of Genetic Testing for HD -- Laboratory Errors -- Genetic Information and Families -- 3 Autosomal Recessive Inheritance and Cystic Fibrosis -- Contrasting Dominant and Recessive Conditions -- Cystic Fibrosis -- Many Different Genetic Errors: Some with Variable Effects -- Common Recessive Disorders -- Genetic Testing for CF -- The Value of Genetic Testing in CF -- Prenatal Diagnosis -- Therapies for CF and Genetic Testing -- Calculating Risks -- Scenario 1 -- Scenario 2 -- 4 X-linked Inheritance: A Question of Gender -- A Fundamental Imbalance -- Switching Off Genes on the Inactive X Chromosome.
Inheritance of X-linked Genetic Disorders -- Three X-linked Genes Associated with Genetic Disorders -- X-linked Example 1: The DMD Gene and Duchenne Muscular Dystrophy/Becker Muscular Dystrophy -- The Spectrum and Significance of Mutations in the DMD Gene -- Testing for DMD Gene Mutations -- X-linked Example 2: The FMR1 Gene, Fragile X Syndrome and Other Phenotypes -- Multiple Conditions Are Associated with FMR1 Gene Mutations -- Transmission of Fragile X Syndrome -- Testing for FMR1 Gene Mutations -- X-linked Example 3: The Androgen Receptor (AR) Gene, Spinal and Bulbar Muscular Atrophy and Androgen Insensitivity Syndrome -- SBMA: A Trinucleotide Expansion Disorder -- AIS: Loss of Function Mutations in the AR Gene -- Genetics and Gender -- 5 Genetic Testing in Cancer -- Cancer as a Genetic Disease -- Inherited Cancer Predisposition -- Tumor Suppressor Genes -- BRCA1 and BRCA2 as Tumor Suppressor Genes -- Oncogenes -- Cytogenetics and Cancer Testing -- Chromosome Analysis -- The Philadelphia Chromosome -- Rapid Detection of Specific Gene Fusions and Other Chromosomal Rearrangements in Cancers by FISH -- Genetic Testing in Cancer Diagnosis and Treatment -- 6 DNA Testing, Genetics and Identity -- Identity Testing in the Diagnostic Genetic Laboratory -- Diagnostic Applications for Genetic Identity Testing -- Direct Testing of Identity -- Family Relationships -- Identity in Twins -- Avoiding Errors in Prenatal Diagnosis -- Monitoring Bone Marrow Transplants -- DNA as a Marker of Unique Personal Identity -- Widening Circles -- Identity as a Member of Humanity -- 7 Out of Sequence: Genome-Scale Testing -- Whole Genome Analyses -- Sanger Sequencing -- Diagnostic Sanger Sequencing Applications -- Next-Generation Sequencing (NGS) -- Diagnostic Applications of New Sequencing Technologies -- Trio Analysis and New Mutations -- Genomic Analysis in Cancer. NGS, Clonal Sequencing and Finding a Needle in a Haystack -- Finding New Disease Associations -- Comparative Genomics -- Third-Generation (Long-Read) Sequencing -- Limitations to the Utility of Genome-Scale Sequencing -- Confounding Factors: Complexity of Common Disease -- Confounding Factors: Lots of Variation, Many Rare Variants -- Confounding Factors: Complex Metabolic Networks -- Epigenetic Regulation: A Further Level of Complexity -- The Risk of False Positives -- Will WGS Improve Outcomes for Common Disorders? -- Genomic Testing in Mainstream Medicine: Because We Can Rather Than Because We Should? -- 8 DNA Testing: Pulling the Strands Together -- Diagnostic Genetics and Ethical Principles -- Consent in the Genomic Era -- Making Genetic Choices -- Compartmentalisation on Genetic Grounds -- Commercial Access to Genetic Testing -- Acknowledging Uncertainties and Avoiding Error -- The Value of Genetic Testing -- The Language of Genetics: Uses and Misuses -- Genetics and Society. |
| Record Nr. | UNINA-9910523906203321 |
Bourn David
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| Cham, Switzerland : , : Springer, , [2022] | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Diagnostic molecular pathology : a guide to applied molecular testing / / edited by William Coleman, Gregory Tsongalis
| Diagnostic molecular pathology : a guide to applied molecular testing / / edited by William Coleman, Gregory Tsongalis |
| Pubbl/distr/stampa | Amsterdam, [Netherlands] : , : Elsevier, , 2017 |
| Descrizione fisica | 1 online resource (583 pages) : illustrations (some color), charts |
| Disciplina | 616.07 |
| Soggetto topico |
Pathology, Molecular
Molecular Diagnostic Techniques |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910583319103321 |
| Amsterdam, [Netherlands] : , : Elsevier, , 2017 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Imprinting disorders associated with molecular changes on chromosome 11p15 / / Rosanna Weksberg
| Imprinting disorders associated with molecular changes on chromosome 11p15 / / Rosanna Weksberg |
| Autore | Weksberg Rosanna |
| Pubbl/distr/stampa | London, : Henry Stewart Talks, 2014 |
| Descrizione fisica | 1 online resource (1 streaming video file (37 min.) : color, sound) |
| Collana | Molecular genetics of human disease |
| Soggetto topico |
Epigenetics
Genetic disorders Genomic imprinting Medical genetics Molecular genetics Beckwith-Wiedemann Syndrome Chromosomes, Human, Pair 11 - genetics Epigenesis, Genetic Genomic Imprinting - genetics Molecular Diagnostic Techniques Mosaicism Silver-Russell Syndrome |
| Formato | Videoregistrazioni  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Contents: What is epigenetics? -- Epigenetic regulation forms the molecular basis for genomic imprinting -- What is genomic imprinting -- Imprinted genes in early development -- Genomic organization of imprinted genes -- Imprinting center -- Imprinted domain 1 on chromosome 11p15.5 -- Complexity of imprinted clusters -- Beckwith-Wiedemann syndrome (BWS) -- BWS: a complex, clinically heterogeneous disorder -- Molecular basis of BWS -- Etiology of the Beckwith-Wiedemann syndrome -- Molecular alterations associated with BWS -- Frequency of molecular alterations in BWS -- The risks to subfertile/ART treated parents -- Subfertility/assisted reproductive technologies (ART) -- BWS molecular defects -- Multiple phenotypes associated with somatic mosaicism for 11p15 UPD -- Somatic mosaicism -- Isolated hemihyperplasia -- High level constitutional UPD -- BWS molecular testing strategies -- Laboratory testing for BWS -- MS-MLPA -- Expected methylation results from MS-MLPA -- MLPA molecular testing for BWS -- Cancer risk & surveillance -- Prenatal testing options -- Current challenges in BWS molecular testing -- Frequency of CNVs according to methylation pattern -- Monozygotic twins and BWS -- Isolated hemihyperplasia -- Current challenges in chromosome 11p15 molecular testing -- Russell-Silver syndrome (RSS -- Chromosomal regions associated with RSS -- Targeted assays of multiple imprinted loci-BWS -- Different combinations of epigenetic alterations associated with variations in clinical phenotype -- Imprint deregulation causing disease in humans. |
| Record Nr. | UNINA-9910887856403321 |
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Weksberg Rosanna
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| London, : Henry Stewart Talks, 2014 | ||
| Videoregistrazioni | ||
| Lo trovi qui: Univ. Federico II | ||
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Molecular diagnosis & therapy
| Molecular diagnosis & therapy |
| Pubbl/distr/stampa | Auckland, N.Z., : Adis International, ©2006- |
| Descrizione fisica | 1 online resource |
| Disciplina | 616.0756 |
| Soggetto topico |
Molecular diagnosis
Biochemical markers Gene therapy Pharmacogenetics Molecular Diagnostic Techniques Biomarkers Genetic Therapy |
| Soggetto genere / forma |
Periodical
Periodicals. |
| ISSN | 1179-2000 |
| Formato | Materiale a stampa |
| Livello bibliografico | Periodico |
| Lingua di pubblicazione | eng |
| Altri titoli varianti | Molecular diagnosis and therapy |
| Record Nr. | UNISA-996217475303316 |
| Auckland, N.Z., : Adis International, ©2006- | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. di Salerno | ||
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Molecular diagnosis & therapy
| Molecular diagnosis & therapy |
| Pubbl/distr/stampa | Auckland, N.Z., : Adis International, ©2006- |
| Descrizione fisica | 1 online resource |
| Disciplina | 616.0756 |
| Soggetto topico |
Molecular diagnosis
Biochemical markers Gene therapy Pharmacogenetics Molecular Diagnostic Techniques Biomarkers Genetic Therapy Diagnostics moléculaires ADN - Utilisation diagnostique Diagnostics Pharmacogénomique |
| Soggetto genere / forma |
Periodical
Periodicals. |
| ISSN | 1179-2000 |
| Formato | Materiale a stampa |
| Livello bibliografico | Periodico |
| Lingua di pubblicazione | eng |
| Altri titoli varianti | Molecular diagnosis and therapy |
| Record Nr. | UNINA-9910154513503321 |
| Auckland, N.Z., : Adis International, ©2006- | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Molecular imaging : official journal of the Society for Molecular Imaging
| Molecular imaging : official journal of the Society for Molecular Imaging |
| Pubbl/distr/stampa | Cambridge, MA, : MIT Press, 2002- |
| Disciplina | 612 |
| Soggetto topico |
Diagnostic imaging
Molecular biology Diagnostic Imaging - methods Cytological Techniques Molecular Diagnostic Techniques Molecular Imaging Histology |
| Soggetto genere / forma | Periodicals. |
| ISSN | 1536-0121 |
| Formato | Materiale a stampa |
| Livello bibliografico | Periodico |
| Lingua di pubblicazione | eng |
| Record Nr. | UNISA-996226750303316 |
| Cambridge, MA, : MIT Press, 2002- | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. di Salerno | ||
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Molecular imaging : official journal of the Society for Molecular Imaging
| Molecular imaging : official journal of the Society for Molecular Imaging |
| Pubbl/distr/stampa | Cambridge, MA, : MIT Press, 2002- |
| Disciplina | 612 |
| Soggetto topico |
Diagnostic imaging
Molecular biology Diagnostic Imaging - methods Cytological Techniques Molecular Diagnostic Techniques Molecular Imaging Histology |
| Soggetto genere / forma | Periodicals. |
| ISSN | 1536-0121 |
| Formato | Materiale a stampa |
| Livello bibliografico | Periodico |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910134050803321 |
| Cambridge, MA, : MIT Press, 2002- | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Sensors & diagnostics
| Sensors & diagnostics |
| Pubbl/distr/stampa | [Cambridge, England] : , : Royal Society of Chemistry, , [2022]- |
| Descrizione fisica | 1 online resource (volumes) : illustrations (some color) |
| Disciplina | 616.075 |
| Soggetto topico |
Biomedical engineering
Chemical detectors Nanochemistry Molecular diagnosis Biosensing Techniques Molecular Diagnostic Techniques Génie biomédical Détecteurs de produits chimiques Nanochimie Diagnostics moléculaires |
| Soggetto genere / forma | Periodicals. |
| Formato | Materiale a stampa |
| Livello bibliografico | Periodico |
| Lingua di pubblicazione | eng |
| Altri titoli varianti | Sensors and diagnostics |
| Record Nr. | UNISA-996477970103316 |
| [Cambridge, England] : , : Royal Society of Chemistry, , [2022]- | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. di Salerno | ||
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Sensors & diagnostics
| Sensors & diagnostics |
| Pubbl/distr/stampa | [Cambridge, England] : , : Royal Society of Chemistry, , [2022]- |
| Descrizione fisica | 1 online resource (volumes) : illustrations (some color) |
| Disciplina | 616.075 |
| Soggetto topico |
Biomedical engineering
Chemical detectors Nanochemistry Molecular diagnosis Biosensing Techniques Molecular Diagnostic Techniques Génie biomédical Détecteurs de produits chimiques Nanochimie Diagnostics moléculaires |
| Soggetto genere / forma | Periodicals. |
| Formato | Materiale a stampa |
| Livello bibliografico | Periodico |
| Lingua di pubblicazione | eng |
| Altri titoli varianti | Sensors and diagnostics |
| Record Nr. | UNINA-9910576896903321 |
| [Cambridge, England] : , : Royal Society of Chemistry, , [2022]- | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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