Practical Preimplantation Genetic Diagnosis [[electronic resource] /] / by Anver Kuliev |
Autore | Kuliev Anver |
Edizione | [2nd ed. 2013.] |
Pubbl/distr/stampa | London : , : Springer London : , : Imprint : Springer, , 2013 |
Descrizione fisica | 1 online resource (316 p.) |
Disciplina | 618.3042 |
Altri autori (Persone) | VerlinskyYury |
Soggetto topico |
Reproductive medicine
Human genetics Obstetrics Gynecology Laboratory medicine Reproductive Medicine Human Genetics Obstetrics/Perinatology/Midwifery Gynecology Laboratory Medicine |
ISBN |
1-283-62193-2
9786613934383 1-4471-4090-7 |
Formato | Materiale a stampa |
Livello bibliografico | Monografia |
Lingua di pubblicazione | eng |
Nota di contenuto | Primary prevention of genetic disorders and place of preimplantation diagnosis -- Approaches to preimplantation diagnosis -- Obtaining Biopsy Material -- Polar Body Diagnosis -- Pre-embryonic Genetic Diagnosis (PEGD) -- Preconception Testing for Paternally Derived Mutations by Sperm Duplication -- Development of artificial human gametes in vitro -- Embryo Biopsy -- Single cell genetic analysis -- DNA Analysis -- FISH Analysis -- Microarray analysis -- Preimplation diagnosis for single gene disorders -- Autosomal Recessive Diseases -- Autosomal Dominant Disorders -- X-linked disorders -- Homozygous or Double Heterozygous Recessive Conditions -- Conditions with No Available Direct Mutation Testing -- De Novo Mutations -- Late-onset disorders with genetic predisposition -- Inherited Predisposition to Cancer -- Alzheimer Disease -- Inherited Cardiac Diseases -- Blood Group Incompatibility -- Congenital Malformations -- Currarino Triad -- Dynamic Mutations -- Overall Experience of PGD for Mendelian Disorders -- PGD for HLA typing -- Fanconi Anemia -- World’s First PGD for HLA Typing -- Thalassemia -- Immunodeficiencies -- Preimplantation HLA Matching without PGD -- Limitations and future prospect of PGD for HLA Typing -- Practical Implications of PGD for HLA Typing -- Preimplantation diagnosis for chromosomal disorders -- First Polar Body Morphological Grading as Possible Potential Means for Preselecting Viable Oocytes -- Aneuploidy in human oocytes -- Testing for both meiosis I and meiosis II errors required for PGD of aneuploidies -- Inconsistency between Aneuploidy Types Predicted by PB1 and Detected by Cleavage Stage Testing -- Complex Errors and Aneuloidy Rescue in Female Meiosis -- Chromosome Specific Meiotic Error Origin and Its Impact on Embryo Viability -- Mitotic Errors in Cleaving Embryos in Relation to Meiosis Errors -- PCR-based aneuploidy testing in cleaving embryos -- Practical Relevance of Autosomal Monosomy Detection -- Uniparental Disomies -- Impact of PB Testing in Detection and Avoidance of Aneuploid Embryos for Transfer -- Chromosomal rearrangements -- Polar Boby Approach -- Blastomere Nuclear Conversion by Fusion with Mouse Oocytes -- Chemical Conversion Method -- Clinical outcome of preimplantation genetic diagnosis -- Safety of PGD -- Diagnostic Accuracy of PGD -- Reproductive outcome of PGD -- Controversy in Assessing Clinical Outcome of Preimplantation Aneuploidy Testing -- Reproductive Outcome Before and after PGD in Same Couples -- Possible Impact of Aneuploidy Origin -- Possible Impact of 24 Chromosome Aneuploidy Testing -- Preimplantation diagnosis and establishment of disease and individual specific human embryonic stem cell lines -- Sources for Establishing Human Embryonic Stem Cell Lines -- Human Embryonic Stem Cell Lines with Genetic Disorders -- Human Embryonic Stem Cell Lines with Chromosomal Disorders -- Genetic Disease Specific Human Embryonic Stem Cell Lines -- Development of individual specific hESC lines -- Human Embryonic Stem Cell Lines Resistant to HIV -- Progress in Study of Disease specific hESC Lines -- Social, ethical and legal aspects. |
Record Nr. | UNINA-9910438125703321 |
Kuliev Anver | ||
London : , : Springer London : , : Imprint : Springer, , 2013 | ||
Materiale a stampa | ||
Lo trovi qui: Univ. Federico II | ||
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Practical preimplantation genetic testing / / Anver Kuliev, Svetlana Rechitsky, Joe Leigh Simpson |
Autore | Kuliev Anver |
Edizione | [3rd ed. 2020.] |
Pubbl/distr/stampa | Cham, Switzerland : , : Springer, , [2020] |
Descrizione fisica | 1 online resource (XII, 291 p. 118 illus., 62 illus. in color.) |
Disciplina | 616.042 |
Soggetto topico | Preimplantation genetic diagnosis |
ISBN | 3-030-43157-6 |
Formato | Materiale a stampa |
Livello bibliografico | Monografia |
Lingua di pubblicazione | eng |
Nota di contenuto | Place of Preimplantation Genetic Testing (PGT) in the Options for Primary Prevention of Genetic Disorders -- Major Components of Preimplantation Genetic Testing: Obtaining Biopsy Material -- Major Components of Preimplantation Genetic Testing: Adjustment of Available Genetic Technologies to PGT Practice -- Strategies and Indications for Preimplantation Genetic Testing of Monogenic Disorders (PGT-M) -- Preimplantation Genetic Testing for Human Leucocyte Antigens (HLA) (PGT-HLA) -- Preimplantation Genetic Testing for Chromosomal Disorders -- Clinical Outcomes of Preimplantation Genetic Testing -- Ethical, Social and Legal Issues with Preimplantation Genetic Testing. |
Record Nr. | UNINA-9910484711003321 |
Kuliev Anver | ||
Cham, Switzerland : , : Springer, , [2020] | ||
Materiale a stampa | ||
Lo trovi qui: Univ. Federico II | ||
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