Thompson and Thompson. Genetica medicala Ed. 8
Thompson and Thompson. Genetica medicala Ed. 8
Lucrare extrem de actuala, reflectand cele mai noi schimbari in genetica, Thompson & Thompson Genetica Medicala este una dintre cele mai apreciate carti dedicata acestui domeniu fascinant si in rapida dezvoltare. Integrand principiile clasice ale geneticii umane cu genetica moleculara moderna, tratatul utilizeaza o varietate de metode didactice in scopul intelegerii unei vaste palete de afectiuni genetice.
Coordonatorii editiei in limba romana: • Prof Dr Laurentiu Bohiltea, • SL Dr Roxana Bohiltea - UMF Carol Davila Bucuresti
Cuprins
• Patrundeti in lumea graficii actuale, a textului color, ilustratiilor, diagramelor si fotografiilor clinice ce redau o diversitate de boli genetice.
• Explorati cel mai actualizat text de genetica pentru a ramane la curent cu ultimele noutati in domeniu.
• Valorificati sectiunea cazurilor clinice care demonstreaza si reitereaza principiile generale ale transmiterii, patogeneza, diagnosticul, conduita terapeutica si consilierea bolilor genetice.
• Imbunatatiti-va aptitudinile de gandire analitica si de memorare a informatiilor. Fiecare capitol se incheie cu un set de „probleme“ scurte care recapituleaza elementele esentiale dezbatute si al caror raspuns se afla la finalul cartii.
• Varianta electronica a cartii contine zeci de intrebari de evaluare cu raspuns multiplu si de tip USMLE
Autori:
• Robert Nussbaum, MD, Chief, Genetic Diseases Research Branch; Acting Chief, Inherited Disease Research Branch, National Human Genome Research Institute; Executive Faculty, Johns Hopkins/NHGRI Joint Genetic Counseling Graduate program, National Institutes of Health
• Roderick R. McInnes, MD, PhD, FRS(C), Scientific Director, Institute of Genetics, Canadian Institutes of Health Research, Anne and Max Tanenbaum Chair in Molecular Medicine; Professor of Pediatrics and Molecular and Medical Genetics, University of Toronto and The Hospital for Sick Children, Toronto, Canada
• Huntington F Willard, PhD, Institute for Genome Sciences & Policy, Duke University, Durham, NC, USA President and Director, The Research Institute of University Hospitals of Cleveland, Henry Wilson Payne Professor and Chairman, Department of Genetics, Case Western Reserve University School of Medicine; Director, Center for Human Genetics, University Hospitals of Cleveland, Cleveland, OH.
• Robert Nussbaum, MD, Chief, Genetic Diseases Research Branch; Acting Chief, Inherited Disease Research Branch, National Human Genome Research Institute; Executive Faculty, Johns Hopkins/NHGRI Joint Genetic Counseling Graduate program, National Institutes of Health
• Roderick R. McInnes, MD, PhD, FRS(C), Scientific Director, Institute of Genetics, Canadian Institutes of Health Research, Anne and Max Tanenbaum Chair in Molecular Medicine; Professor of Pediatrics and Molecular and Medical Genetics, University of Toronto and The Hospital for Sick Children, Toronto, Canada
• Huntington F Willard, PhD, Institute for Genome Sciences & Policy, Duke University, Durham, NC, USA President and Director, The Research Institute of University Hospitals of Cleveland, Henry Wilson Payne Professor and Chairman, Department of Genetics, Case Western Reserve University School of Medicine; Director, Center for Human Genetics, University Hospitals of Cleveland, Cleveland, OH.
Coordonatorii editiei in limba romana: • Prof Dr Laurentiu Bohiltea, • SL Dr Roxana Bohiltea - UMF Carol Davila Bucuresti
1. Introducere
2. Genomul uman – notiuni introductive
3. Genomul uman: structura si functia genei
4. Diversitatea genetica umana: mutatia si polimorfismul
5. Principiile citogeneticii clinice si ale analizei genomice
6. Bazele cromozomiale si genomice ale bolilor: afectiuni autozomale si gonozomale
7. Transmiterea ereditara a caracterelor monogenice
8. Ereditatea complexa a bolilor multifactoriale comune
9. Variabilitatea genetica a populatiilor
10. Identificarea bazelor genetice ale patologiei umane
11. Bazele moleculare ale bolilor genetice
12. Bazele moleculare, biochimice si celulare ale afectiunilor genetice
13. Tratamentul bolilor genetice
14. Genetica dezvoltarii si malformatiile congenitale
15. Genetica si genomica cancerului
16. Evaluarea riscului si consultul genetic
17. Diagnosticul si screening-ul prenatal
18. Aplicatiile genomicii in medicina si in personalizarea ingrijirii starii de sanatate
19. Probleme etice si sociale in genetica si genomica
Studii de cazuri clinice ilustrand principiile genetice
Glosar • Raspunsuri la probleme • Index
296.01Lei
296.01Lei
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Descrierea produsului
Lucrare extrem de actuala, reflectand cele mai noi schimbari in genetica, Thompson & Thompson Genetica Medicala este una dintre cele mai apreciate carti dedicata acestui domeniu fascinant si in rapida dezvoltare. Integrand principiile clasice ale geneticii umane cu genetica moleculara moderna, tratatul utilizeaza o varietate de metode didactice in scopul intelegerii unei vaste palete de afectiuni genetice.
Coordonatorii editiei in limba romana: • Prof Dr Laurentiu Bohiltea, • SL Dr Roxana Bohiltea - UMF Carol Davila Bucuresti
Cuprins
• Patrundeti in lumea graficii actuale, a textului color, ilustratiilor, diagramelor si fotografiilor clinice ce redau o diversitate de boli genetice.
• Explorati cel mai actualizat text de genetica pentru a ramane la curent cu ultimele noutati in domeniu.
• Valorificati sectiunea cazurilor clinice care demonstreaza si reitereaza principiile generale ale transmiterii, patogeneza, diagnosticul, conduita terapeutica si consilierea bolilor genetice.
• Imbunatatiti-va aptitudinile de gandire analitica si de memorare a informatiilor. Fiecare capitol se incheie cu un set de „probleme“ scurte care recapituleaza elementele esentiale dezbatute si al caror raspuns se afla la finalul cartii.
• Varianta electronica a cartii contine zeci de intrebari de evaluare cu raspuns multiplu si de tip USMLE
Autori:
• Robert Nussbaum, MD, Chief, Genetic Diseases Research Branch; Acting Chief, Inherited Disease Research Branch, National Human Genome Research Institute; Executive Faculty, Johns Hopkins/NHGRI Joint Genetic Counseling Graduate program, National Institutes of Health
• Roderick R. McInnes, MD, PhD, FRS(C), Scientific Director, Institute of Genetics, Canadian Institutes of Health Research, Anne and Max Tanenbaum Chair in Molecular Medicine; Professor of Pediatrics and Molecular and Medical Genetics, University of Toronto and The Hospital for Sick Children, Toronto, Canada
• Huntington F Willard, PhD, Institute for Genome Sciences & Policy, Duke University, Durham, NC, USA President and Director, The Research Institute of University Hospitals of Cleveland, Henry Wilson Payne Professor and Chairman, Department of Genetics, Case Western Reserve University School of Medicine; Director, Center for Human Genetics, University Hospitals of Cleveland, Cleveland, OH.
• Robert Nussbaum, MD, Chief, Genetic Diseases Research Branch; Acting Chief, Inherited Disease Research Branch, National Human Genome Research Institute; Executive Faculty, Johns Hopkins/NHGRI Joint Genetic Counseling Graduate program, National Institutes of Health
• Roderick R. McInnes, MD, PhD, FRS(C), Scientific Director, Institute of Genetics, Canadian Institutes of Health Research, Anne and Max Tanenbaum Chair in Molecular Medicine; Professor of Pediatrics and Molecular and Medical Genetics, University of Toronto and The Hospital for Sick Children, Toronto, Canada
• Huntington F Willard, PhD, Institute for Genome Sciences & Policy, Duke University, Durham, NC, USA President and Director, The Research Institute of University Hospitals of Cleveland, Henry Wilson Payne Professor and Chairman, Department of Genetics, Case Western Reserve University School of Medicine; Director, Center for Human Genetics, University Hospitals of Cleveland, Cleveland, OH.
Coordonatorii editiei in limba romana: • Prof Dr Laurentiu Bohiltea, • SL Dr Roxana Bohiltea - UMF Carol Davila Bucuresti
1. Introducere
2. Genomul uman – notiuni introductive
3. Genomul uman: structura si functia genei
4. Diversitatea genetica umana: mutatia si polimorfismul
5. Principiile citogeneticii clinice si ale analizei genomice
6. Bazele cromozomiale si genomice ale bolilor: afectiuni autozomale si gonozomale
7. Transmiterea ereditara a caracterelor monogenice
8. Ereditatea complexa a bolilor multifactoriale comune
9. Variabilitatea genetica a populatiilor
10. Identificarea bazelor genetice ale patologiei umane
11. Bazele moleculare ale bolilor genetice
12. Bazele moleculare, biochimice si celulare ale afectiunilor genetice
13. Tratamentul bolilor genetice
14. Genetica dezvoltarii si malformatiile congenitale
15. Genetica si genomica cancerului
16. Evaluarea riscului si consultul genetic
17. Diagnosticul si screening-ul prenatal
18. Aplicatiile genomicii in medicina si in personalizarea ingrijirii starii de sanatate
19. Probleme etice si sociale in genetica si genomica
Studii de cazuri clinice ilustrand principiile genetice
Glosar • Raspunsuri la probleme • Index
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