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  • 1
    Online Resource
    Online Resource
    Genetic disorders of endocrine neoplasia / (2001)
    Basel :Karger,
    Details
    UID:
    edoccha_BV036069151
    Format: 1 Online-Ressource (VIII, 218 Seiten) : , Diagramme.
    ISBN: 978-3-318-00681-0
    Series Statement: Frontiers of hormone research Vol. 28
    Content: The genetics of endocrine cancers is clearly an area where new scientific discoveries that have occurred in the past few years have already been translated into clinical practice. This volume attempts to provide a state-of-the-art review of some of the most relevant inherited syndromes that share a higher susceptibility to the development of endocrine tumors. It focuses on familial tumor syndromes for which the primary gene defect has been well characterized or recently identified. An overview of cloning strategies and gene characterization in cancer, is combined with detailed discussions of clinical aspects and molecular features of heritable endocrine neoplastic diseases, such as MEN1 and MEN2 and Von Hippel-Lindau disease. Studies on the PTEN gene, the first known phosphatase to lead to cancer when disrupted are discussed in detail. Also included disrupted is the recent identification and partial characterization of one of at least two genes for Carney Complex, PRKARIA.The authors place special emphasis on testing and screening strategies which now allow a much earlier identification of family members at risk. The challenge for the 21st century will be to develop equal progress in pharmacological prevention and cure based on the knowledge of the function of these susceptibility genes and their targets
    Note: a comprehensive guide to the understanding of contemporary endocrine cancer genetics
    Additional Edition: Erscheint auch als Druck-Ausgabe ISBN 978-3-8055-7203-3
    Language: English
    Subjects: Medicine
    RVK:
    XH 6119
    Keywords: Multiple endokrine Adenopathie ; Erbkrankheit ; Molekulargenetik ; Angiomatosis retinae ; Erbkrankheit ; Molekulargenetik ; Aufsatzsammlung
    DOI: 10.1159/isbn.978-3-318-00681-0
    URL: Volltext
    Library Location Call Number Volume/Issue/Year Availability
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    Online Access
    Open Access Request
    HU Berlin
    EUV Frankfurt
    TH Brandenburg
    TH Wildau
    Charité
    TU Berlin
  • 2
    Online Resource
    Online Resource
    Genetic disorders of endocrine neoplasia / (2001)
    Basel :Karger,
    Details
    UID:
    almahu_BV036069151
    Format: 1 Online-Ressource (VIII, 218 Seiten) : , Diagramme.
    ISBN: 978-3-318-00681-0
    Series Statement: Frontiers of hormone research Vol. 28
    Content: The genetics of endocrine cancers is clearly an area where new scientific discoveries that have occurred in the past few years have already been translated into clinical practice. This volume attempts to provide a state-of-the-art review of some of the most relevant inherited syndromes that share a higher susceptibility to the development of endocrine tumors. It focuses on familial tumor syndromes for which the primary gene defect has been well characterized or recently identified. An overview of cloning strategies and gene characterization in cancer, is combined with detailed discussions of clinical aspects and molecular features of heritable endocrine neoplastic diseases, such as MEN1 and MEN2 and Von Hippel-Lindau disease. Studies on the PTEN gene, the first known phosphatase to lead to cancer when disrupted are discussed in detail. Also included disrupted is the recent identification and partial characterization of one of at least two genes for Carney Complex, PRKARIA.The authors place special emphasis on testing and screening strategies which now allow a much earlier identification of family members at risk. The challenge for the 21st century will be to develop equal progress in pharmacological prevention and cure based on the knowledge of the function of these susceptibility genes and their targets
    Note: a comprehensive guide to the understanding of contemporary endocrine cancer genetics
    Additional Edition: Erscheint auch als Druck-Ausgabe ISBN 978-3-8055-7203-3
    Language: English
    Subjects: Medicine
    RVK:
    XH 6119
    Keywords: Multiple endokrine Adenopathie ; Erbkrankheit ; Molekulargenetik ; Angiomatosis retinae ; Erbkrankheit ; Molekulargenetik ; Aufsatzsammlung
    DOI: 10.1159/isbn.978-3-318-00681-0
    URL: Volltext
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Online Resource
    Online Access
    Open Access Request
    HU Berlin
    EUV Frankfurt
    TH Brandenburg
    TH Wildau
    Charité
    TU Berlin
  • 3
    Online Resource
    Online Resource
    Genetic disorders of endocrine neoplasia (2001)
    Basel : Karger
    Details
    UID:
    b3kat_BV036069151
    Format: 1 Online-Ressource (VIII, 218 Seiten) , Diagramme
    ISBN: 9783318006810
    Series Statement: Frontiers of hormone research Vol. 28
    Content: The genetics of endocrine cancers is clearly an area where new scientific discoveries that have occurred in the past few years have already been translated into clinical practice. This volume attempts to provide a state-of-the-art review of some of the most relevant inherited syndromes that share a higher susceptibility to the development of endocrine tumors. It focuses on familial tumor syndromes for which the primary gene defect has been well characterized or recently identified. An overview of cloning strategies and gene characterization in cancer, is combined with detailed discussions of clinical aspects and molecular features of heritable endocrine neoplastic diseases, such as MEN1 and MEN2 and Von Hippel-Lindau disease. Studies on the PTEN gene, the first known phosphatase to lead to cancer when disrupted are discussed in detail. Also included disrupted is the recent identification and partial characterization of one of at least two genes for Carney Complex, PRKARIA.The authors place special emphasis on testing and screening strategies which now allow a much earlier identification of family members at risk. The challenge for the 21st century will be to develop equal progress in pharmacological prevention and cure based on the knowledge of the function of these susceptibility genes and their targets
    Note: a comprehensive guide to the understanding of contemporary endocrine cancer genetics
    Additional Edition: Erscheint auch als Druck-Ausgabe ISBN 978-3-8055-7203-3
    Language: English
    Subjects: Medicine
    RVK:
    XH 6119
    Keywords: Multiple endokrine Adenopathie ; Erbkrankheit ; Molekulargenetik ; Angiomatosis retinae ; Erbkrankheit ; Molekulargenetik ; Aufsatzsammlung
    DOI: 10.1159/isbn.978-3-318-00681-0
    URL: Volltext
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Online Resource
    Online Access
    Open Access Request
    EUV Frankfurt
    TH Brandenburg
    TH Wildau
    TU Berlin
  • 4
    Online Resource
    Online Resource
    Genetic disorders of endocrine neoplasia / (2001)
    Basel :Karger,
    Details
    UID:
    almafu_BV036069151
    Format: 1 Online-Ressource (VIII, 218 Seiten) : , Diagramme.
    ISBN: 978-3-318-00681-0
    Series Statement: Frontiers of hormone research Vol. 28
    Content: The genetics of endocrine cancers is clearly an area where new scientific discoveries that have occurred in the past few years have already been translated into clinical practice. This volume attempts to provide a state-of-the-art review of some of the most relevant inherited syndromes that share a higher susceptibility to the development of endocrine tumors. It focuses on familial tumor syndromes for which the primary gene defect has been well characterized or recently identified. An overview of cloning strategies and gene characterization in cancer, is combined with detailed discussions of clinical aspects and molecular features of heritable endocrine neoplastic diseases, such as MEN1 and MEN2 and Von Hippel-Lindau disease. Studies on the PTEN gene, the first known phosphatase to lead to cancer when disrupted are discussed in detail. Also included disrupted is the recent identification and partial characterization of one of at least two genes for Carney Complex, PRKARIA.The authors place special emphasis on testing and screening strategies which now allow a much earlier identification of family members at risk. The challenge for the 21st century will be to develop equal progress in pharmacological prevention and cure based on the knowledge of the function of these susceptibility genes and their targets
    Note: a comprehensive guide to the understanding of contemporary endocrine cancer genetics
    Additional Edition: Erscheint auch als Druck-Ausgabe ISBN 978-3-8055-7203-3
    Language: English
    Subjects: Medicine
    RVK:
    XH 6119
    Keywords: Multiple endokrine Adenopathie ; Erbkrankheit ; Molekulargenetik ; Angiomatosis retinae ; Erbkrankheit ; Molekulargenetik ; Aufsatzsammlung
    DOI: 10.1159/isbn.978-3-318-00681-0
    URL: Volltext
    URL: Volltext
    URL: lizenzpflichtig
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    Stabi Berlin
    UB Potsdam
    Charité
    MPI Bildungsforschung
  • 5
    Online Resource
    Online Resource
    Genetic disorders of endocrine neoplasia / (2001)
    Basel ; : Karger,
    Details
    UID:
    almafu_9958103977102883
    Format: 1 online resource (226 p.)
    ISBN: 3-318-00681-5
    Series Statement: Frontiers of hormone research ; vol. 28
    Content: The genetics of endocrine cancers is clearly an area where new scientific discoveries that have occurred in the past few years have already been translated into clinical practice. This volume attempts to provide a state-of-the-art review of some of the most relevant inherited syndromes that share a higher susceptibility to the development of endocrine tumors. It focuses on familial tumor syndromes for which the primary gene defect has been well characterized or recently identified. An overview of cloning strategies and gene characterization in cancer, is combined with detailed discussions of clinical aspects and molecular features of heritable endocrine neoplastic diseases, such as MEN1 and MEN2 and Von Hippel-Lindau disease. Studies on the PTEN gene, the first known phosphatase to lead to cancer when disrupted are discussed in detail. Also included disrupted is the recent identification and partial characterization of one of at least two genes for Carney Complex, PRKARIA. The authors place special emphasis on testing and screening strategies which now allow a much earlier identification of family members at risk. The challenge for the 21st century will be to develop equal progress in pharmacological prevention and cure based on the knowledge of the function of these susceptibility genes and their targets.
    Note: Description based upon print version of record. , ""Contents""; ""Preface""; ""Introduction""; ""Hereditary Endocrine Neoplasias: Fundamental Insights and the Practice of Clinical Cancer Genetics""; ""Identification and Characterization of Disease-Related Genes: Focus on Endocrine Neoplasias""; ""Clinical and Molecular Aspects of Multiple Endocrine Neoplasia Type 1""; ""Multiple Endocrine Neoplasia Type 2: Molecular Aspects""; ""Multiple Endocrine Neoplasia Type 2: Clinical Aspects""; ""Von Hippel-Lindau Disease: Genetic and Clinical Observations""; ""Hamartoma and Lentiginosis Syndromes: Clinical and Molecular Aspects""; ""Subject Index"" , English
    Additional Edition: ISBN 3-8055-7203-4
    Language: English
    Library Location Call Number Volume/Issue/Year Availability
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    Online Resource
    FU Berlin
    Charité
  • 6
    Book
    Book
    The PTEN family : a subject collection from Cold Spring Harbor perspectives in medicine (2020)
    Cold Spring Harbor, New York :Cold Spring Harbor Laboratory Press,
    Details
    UID:
    almahu_BV046260576
    Format: vii, 357 Seiten : , Illustrationen, Diagramme.
    ISBN: 978-1-62182-344-5
    Series Statement: Cold Spring Harbor perspectives in medicine
    Additional Edition: Erscheint auch als Online-Ausgabe, EPUB ISBN 978-1-62182-345-2
    Additional Edition: Erscheint auch als Online-Ausgabe, kindle edition ISBN 978-1-62182-346-9
    Language: English
    Subjects: Biology
    RVK:
    WD 5065
    Keywords: Aufsatzsammlung
    URL: http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=031638590&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA
    URL: http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=031638590&sequence=000003&line_number=0002&func_code=DB_RECORDS&service_type=MEDIA
    URL: http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=031638590&sequence=000005&line_number=0003&func_code=DB_RECORDS&service_type=MEDIA
    URL: http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=031638590&sequence=000007&line_number=0004&func_code=DB_RECORDS&service_type=MEDIA
    Library Location Call Number Volume/Issue/Year Availability
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    Book
    HU Berlin get availability status
  • 7
    Online Resource
    Online Resource
    Genomic medicine : principles and practice (2015)
    New York :Oxford University Press,
    Details
    UID:
    almahu_9948319322002882
    Format: 1 online resource (843 pages) : , illustrations.
    Edition: Second edition.
    ISBN: 9780199896035 (e-book)
    Series Statement: Oxford Monographs on Medical Genetics
    Additional Edition: Print version: Genomic medicine : principles and practice. New York : Oxford University Press, c2015 ISBN 9780199896028
    Language: English
    Keywords: Electronic books.
    URL: Click to View
    Library Location Call Number Volume/Issue/Year Availability
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    Online Resource
    HU Berlin
  • 8
    Online Resource
    Online Resource
    Genomic medicine : principles and practice (2014)
    New York :Oxford University Press,
    Details
    UID:
    edoccha_9958993987502883
    Format: 1 online resource (853 p.)
    Edition: Second edition.
    ISBN: 0-19-939808-9 , 0-19-939809-7 , 0-19-989603-8
    Series Statement: Oxford Monographs on Medical Genetics
    Uniform Title: Genomics and clinical medicine.
    Content: The first edition of Genomics and Clinical Medicine provided an overview of genomics-based advances in disease susceptibility, diagnosis, and prediction of treatment outcomes in various areas of medicine. Since its publication, the science of genomics has made tremendous progress, and exciting new developments in biotechnology and bioinformatics have created possibilities that were inconceivable only a few years ago. This completely revised second edition of Genomic Medicine reflects the rapidly changing face of applied and translational genomics in the medical and health context and provides
    Note: Description based upon print version of record. , Cover; Series; Genomic Medicine: Principles and Practice; Copyright; Dedication; Foreword; Foreword to the First Edition; Preface to the First Edition; Preface; Acknowledgments; Contents; Contributors; Part I: Principles of Genomic Medicine; 1. Genes, Genetics, and Human Genomics; 2. The human genome-structure and organization; 3. Human proteomics; 4. Epigenetics, epigenomics, and human disease; 5. Genes, genome, and developmental malformations; 6. Bioinformatics, systems biology, and systems medicine; 7. Pharmacogenomics-critical component of genomic medicine , 8. New drug development, drug response, and precision medicines9. Mitochondrial genetics and genomics in clinical medicine; 10. Genomics technology in clinical diagnostics; 11. Microbial genomics: targeted antimicrobial therapy and genome vaccines; 12. Nutritional genomics; 13. Genomics in public and population health; 14. Genetic testing and genomic screening; 15. Biobanking for genomics-based translational medicine; 16. Genetics and genomics education: the path from helix to health; 17. Ethical, legal, and social issues in clinical genomics; 18. The regulation of human genomics research , Part II: Genomics in Clinical Practice19. Genetic and genomic approaches to clinical medicine; 20. Genetic and genomic taxonomy of human disease; 21. Genomics of complex cardiovascular disease; 22. Genomics of type 2 diabetes mellitus and obesity; 23. Genetics and genomics of osteoporosis and related disorders; 24. Genetics and genomics of chronic kidney disease; 25. Genetics and genomics in clinical hematology, I: Hemostasis and thrombosis; 26. Genetics and genomics in clinical hematology, II: Inherited disorders of hemoglobin , 27. Genetic and genomics in clinical hematology, III: Acute leukemias28. Genetics and genomics of chronic inflammatory disorders, I: Inflammatory bowel disease; 29. Genetics and genomics of chronic inflammatory disorders, II: Rheumatoid arthritis and related arthropathies; 30. Genetics and genomics of chronic inflammatory disorders, III: Bronchial asthma; 31. Genetics and genomics of neuro-psychiatric diseases, I: Seizure disorders; 32. Genetics and genomics of neuro-psychiatric diseases, II: Multiple sclerosis , 33. Genetics and genomics of neuro-psychiatric diseases, III: The common dementias34. Genetics and genomics of neuro-psychiatric diseases, IV: Schizophrenia and bipolar disorder; 35. Genetics and genomics of neuro-psychiatric diseases, V: Learning and behavioral disorders; 36. Clinical cancer genomics; 37. Genomics and infectious diseases: susceptibility, resistance, response, and antimicrobial therapy; 38. Genomic perspectives of clinical immunology; 39. Genomic applications in clinical pediatrics; 40. Genetics and genomics in clinical ophthalmology, I: The spectrum of genetic eye disease , 41. Genetics and genomics in clinical ophthalmology, II: Glaucoma , English
    Additional Edition: ISBN 0-19-989602-X
    Additional Edition: ISBN 1-322-11086-7
    Language: English
    Library Location Call Number Volume/Issue/Year Availability
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    Online Resource
    Charité
  • 9
    Online Resource
    Online Resource
    Genomic medicine : principles and practice (2014)
    New York :Oxford University Press,
    Details
    UID:
    almafu_9958993987502883
    Format: 1 online resource (853 p.)
    Edition: Second edition.
    ISBN: 0-19-939808-9 , 0-19-939809-7 , 0-19-989603-8
    Series Statement: Oxford Monographs on Medical Genetics
    Uniform Title: Genomics and clinical medicine.
    Content: The first edition of Genomics and Clinical Medicine provided an overview of genomics-based advances in disease susceptibility, diagnosis, and prediction of treatment outcomes in various areas of medicine. Since its publication, the science of genomics has made tremendous progress, and exciting new developments in biotechnology and bioinformatics have created possibilities that were inconceivable only a few years ago. This completely revised second edition of Genomic Medicine reflects the rapidly changing face of applied and translational genomics in the medical and health context and provides
    Note: Description based upon print version of record. , Cover; Series; Genomic Medicine: Principles and Practice; Copyright; Dedication; Foreword; Foreword to the First Edition; Preface to the First Edition; Preface; Acknowledgments; Contents; Contributors; Part I: Principles of Genomic Medicine; 1. Genes, Genetics, and Human Genomics; 2. The human genome-structure and organization; 3. Human proteomics; 4. Epigenetics, epigenomics, and human disease; 5. Genes, genome, and developmental malformations; 6. Bioinformatics, systems biology, and systems medicine; 7. Pharmacogenomics-critical component of genomic medicine , 8. New drug development, drug response, and precision medicines9. Mitochondrial genetics and genomics in clinical medicine; 10. Genomics technology in clinical diagnostics; 11. Microbial genomics: targeted antimicrobial therapy and genome vaccines; 12. Nutritional genomics; 13. Genomics in public and population health; 14. Genetic testing and genomic screening; 15. Biobanking for genomics-based translational medicine; 16. Genetics and genomics education: the path from helix to health; 17. Ethical, legal, and social issues in clinical genomics; 18. The regulation of human genomics research , Part II: Genomics in Clinical Practice19. Genetic and genomic approaches to clinical medicine; 20. Genetic and genomic taxonomy of human disease; 21. Genomics of complex cardiovascular disease; 22. Genomics of type 2 diabetes mellitus and obesity; 23. Genetics and genomics of osteoporosis and related disorders; 24. Genetics and genomics of chronic kidney disease; 25. Genetics and genomics in clinical hematology, I: Hemostasis and thrombosis; 26. Genetics and genomics in clinical hematology, II: Inherited disorders of hemoglobin , 27. Genetic and genomics in clinical hematology, III: Acute leukemias28. Genetics and genomics of chronic inflammatory disorders, I: Inflammatory bowel disease; 29. Genetics and genomics of chronic inflammatory disorders, II: Rheumatoid arthritis and related arthropathies; 30. Genetics and genomics of chronic inflammatory disorders, III: Bronchial asthma; 31. Genetics and genomics of neuro-psychiatric diseases, I: Seizure disorders; 32. Genetics and genomics of neuro-psychiatric diseases, II: Multiple sclerosis , 33. Genetics and genomics of neuro-psychiatric diseases, III: The common dementias34. Genetics and genomics of neuro-psychiatric diseases, IV: Schizophrenia and bipolar disorder; 35. Genetics and genomics of neuro-psychiatric diseases, V: Learning and behavioral disorders; 36. Clinical cancer genomics; 37. Genomics and infectious diseases: susceptibility, resistance, response, and antimicrobial therapy; 38. Genomic perspectives of clinical immunology; 39. Genomic applications in clinical pediatrics; 40. Genetics and genomics in clinical ophthalmology, I: The spectrum of genetic eye disease , 41. Genetics and genomics in clinical ophthalmology, II: Glaucoma , English
    Additional Edition: ISBN 0-19-989602-X
    Additional Edition: ISBN 1-322-11086-7
    Language: English
    Library Location Call Number Volume/Issue/Year Availability
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    Online Resource
    FU Berlin
  • 10
    Online Resource
    Online Resource
    PTEN Hamartoma-Tumour Syndrome : a model for the practice of clinical cancer genetics (2014)
    London :Henry Stewart Talks,
    Details
    UID:
    almafu_9961427597302883
    Format: 1 videorecording (21 mins., 12 sec.) : , sound, color , 002112
    Series Statement: Molecular genetics of human disease,
    Note: Animated audio-visual presentation with synchronized narration. , Title from title frames. , Contents: PTEN Hamaratoma Tumour Syndrome: a model for the practice of clinical cancer genetics -- Clinical cancer genetics -- Evaluating and managing families with inherited cancer syndromes -- Recognition of clinical signs of heritable cancer -- PTEN hamartoma tumor syndrome as paradigm -- Recognition -- Gene-specific medical management.
    Language: English
    Library Location Call Number Volume/Issue/Year Availability
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    Charité
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