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Practical Preimplantation Genetic Diagnosis [[electronic resource] /] / by Anver Kuliev
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
Opac: Controlla la disponibilità qui
Practical preimplantation genetic testing / / Anver Kuliev, Svetlana Rechitsky, Joe Leigh Simpson
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
Opac: Controlla la disponibilità qui