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Practical preimplantation genetic diagnosis

By: Contributor(s): Material type: TextTextPublication details: London ; New York : Springer, 2012.Edition: 2nd edDescription: xvii, 304 pg. : ill. (some col.)ISBN:
  • 9781447140894 (alk. paper)
Subject(s): LOC classification:
  • QA171.5 .K85
Contents:
Machine generated contents note: 1.Primary Prevention of Genetic Disorders and Place of Preimplantation Diagnosis -- References -- 2.Approaches to Preimplantation Diagnosis -- 2.1.Obtaining Biopsy Material -- 2.1.1.Polar Body Diagnosis -- 2.1.2.Pre-embryonic Genetic Diagnosis (PEGD) -- 2.1.3.Preconception Testing for Paternally Derived Mutations by Sperm Duplication -- 2.1.4.Development of Artificial Human Gametes In Vitro -- 2.1.5.Embryo Biopsy -- 2.2.Single-Cell Genetic Analysis -- 2.2.1.DNA Analysis -- 2.2.2.FISH Analysis -- 2.2.3.Microarray Analysis -- References -- 3.Preimplation Diagnosis for Single-Gene Disorders -- 3.1.Autosomal-Recessive Diseases -- 3.2.Autosomal-Dominant Disorders -- 3.3.X-Linked Disorders -- 3.4.Homozygous or Double Heterozygous Recessive Conditions -- 3.5.Conditions with no Available Direct Mutation Testing -- 3.6.De Novo Mutations -- 3.7.Late-Onset Disorders with Genetic Predisposition -- 3.7.1.Inherited Predisposition to Cancer --
Note continued: 3.7.2.Alzheimer Disease -- 3.7.3.Inherited Cardiac Diseases -- 3.8.Blood Group Incompatibility -- 3.9.Congenital Malformations -- 3.10.Dynamic Mutations -- 3.11.Overall Experience of PGD for Mendelian Disorders -- References -- 4.PGD for HLA Typing -- 4.1.Fanconi Anemia -- World's First PGD for HLA Typing -- 4.2.Thalassemia -- 4.3.Immunodeficiencies -- 4.4.Preimplantation HLA Matching Without PGD -- 4.5.Limitations and Future Prospects of PGD for HLA Typing -- 4.6.Practical Implications of PGD for HLA Typing -- References -- 5.Preimplantation Diagnosis for Chromosomal Disorders -- 5.1.First Polar Body Morphological Grading as Possible Potential Means for Preselecting Viable Oocytes -- 5.2.Aneuploidy in Human Oocytes -- 5.2.1.Testing for Both Meiosis I and Meiosis II Errors Required for PGD of Aneuploidies -- 5.2.2.Inconsistency Between Aneuploidy Types Predicted by PB1 and Detected by Cleavage-Stage Testing --
Note continued: 5.2.3.Complex Errors and Aneuloidy Rescue in Female Meiosis -- 5.2.4.Chromosome-Specific Meiotic Error Origin and Its Impact on Embryo Viability -- 5.2.5.Mitotic Errors in Cleaving Embryos in Relation to Meiosis Errors -- 5.2.6.PCR-Based Aneuploidy Testing in Cleaving Embryos -- 5.2.7.Practical Relevance of Autosomal Monosomy Detection -- 5.2.8.Uniparental Disomies -- 5.2.9.Impact of PB Testing in Detection and Avoidance of Aneuploid Embryos for Transfer -- 5.3.Chromosomal Rearrangements -- 5.3.1.Polar Body Approach -- 5.3.2.Blastomere Nuclear Conversion by Fusion with Mouse Oocytes -- 5.3.3.Chemical Conversion Method -- References -- 6.Clinical Outcome of Preimplantation Genetic Diagnosis -- 6.1.Safety of PGD -- 6.2.Diagnostic Accuracy of PGD -- 6.3.Reproductive Outcome of PGD -- 6.4.Controversy in Assessing Clinical Outcome of Preimplantation Aneuploidy Testing -- 6.5.Reproductive Outcome Before and After PGD in Same Couples --
Note continued: 6.6.Possible Impact of Aneuploidy Origin -- 6.7.Possible Impact of 24 Chromosome Aneuploidy Testing -- References -- 7.Preimplantation Diagnosis and Establishment of Disease and Individual Specific Human Embryonic Stem Cell Lines -- 7.1.Sources for Establishing Human Embryonic Stem Cell Lines -- 7.2.Human Embryonic Stem Cell Lines with Genetic Disorders -- 7.2.1.Human Embryonic Stem Cell Lines with Chromosomal Disorders -- 7.2.2.Genetic Disease Specific Human Embryonic Stem Cell Lines -- 7.3.Development of Individual Specific hESC Lines -- 7.4.Human Embryonic Stem Cell Lines Resistant to HIV -- 7.5.Progress in Study of Disease Specific hESC Lines -- References -- 8.Social, Ethical, and Legal Aspects -- References.
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Books Books Directorate of Library Services General Collection Shelf#19 MED QA171.5 K85 (Browse shelf(Opens below)) Available 000000128553

Rev. ed. of: Practical preimplantation genetic diagnosis / Yury Verlinsky and Anver Kuliev. c2005.

Machine generated contents note: 1.Primary Prevention of Genetic Disorders and Place of Preimplantation Diagnosis -- References -- 2.Approaches to Preimplantation Diagnosis -- 2.1.Obtaining Biopsy Material -- 2.1.1.Polar Body Diagnosis -- 2.1.2.Pre-embryonic Genetic Diagnosis (PEGD) -- 2.1.3.Preconception Testing for Paternally Derived Mutations by Sperm Duplication -- 2.1.4.Development of Artificial Human Gametes In Vitro -- 2.1.5.Embryo Biopsy -- 2.2.Single-Cell Genetic Analysis -- 2.2.1.DNA Analysis -- 2.2.2.FISH Analysis -- 2.2.3.Microarray Analysis -- References -- 3.Preimplation Diagnosis for Single-Gene Disorders -- 3.1.Autosomal-Recessive Diseases -- 3.2.Autosomal-Dominant Disorders -- 3.3.X-Linked Disorders -- 3.4.Homozygous or Double Heterozygous Recessive Conditions -- 3.5.Conditions with no Available Direct Mutation Testing -- 3.6.De Novo Mutations -- 3.7.Late-Onset Disorders with Genetic Predisposition -- 3.7.1.Inherited Predisposition to Cancer --

Note continued: 3.7.2.Alzheimer Disease -- 3.7.3.Inherited Cardiac Diseases -- 3.8.Blood Group Incompatibility -- 3.9.Congenital Malformations -- 3.10.Dynamic Mutations -- 3.11.Overall Experience of PGD for Mendelian Disorders -- References -- 4.PGD for HLA Typing -- 4.1.Fanconi Anemia -- World's First PGD for HLA Typing -- 4.2.Thalassemia -- 4.3.Immunodeficiencies -- 4.4.Preimplantation HLA Matching Without PGD -- 4.5.Limitations and Future Prospects of PGD for HLA Typing -- 4.6.Practical Implications of PGD for HLA Typing -- References -- 5.Preimplantation Diagnosis for Chromosomal Disorders -- 5.1.First Polar Body Morphological Grading as Possible Potential Means for Preselecting Viable Oocytes -- 5.2.Aneuploidy in Human Oocytes -- 5.2.1.Testing for Both Meiosis I and Meiosis II Errors Required for PGD of Aneuploidies -- 5.2.2.Inconsistency Between Aneuploidy Types Predicted by PB1 and Detected by Cleavage-Stage Testing --

Note continued: 5.2.3.Complex Errors and Aneuloidy Rescue in Female Meiosis -- 5.2.4.Chromosome-Specific Meiotic Error Origin and Its Impact on Embryo Viability -- 5.2.5.Mitotic Errors in Cleaving Embryos in Relation to Meiosis Errors -- 5.2.6.PCR-Based Aneuploidy Testing in Cleaving Embryos -- 5.2.7.Practical Relevance of Autosomal Monosomy Detection -- 5.2.8.Uniparental Disomies -- 5.2.9.Impact of PB Testing in Detection and Avoidance of Aneuploid Embryos for Transfer -- 5.3.Chromosomal Rearrangements -- 5.3.1.Polar Body Approach -- 5.3.2.Blastomere Nuclear Conversion by Fusion with Mouse Oocytes -- 5.3.3.Chemical Conversion Method -- References -- 6.Clinical Outcome of Preimplantation Genetic Diagnosis -- 6.1.Safety of PGD -- 6.2.Diagnostic Accuracy of PGD -- 6.3.Reproductive Outcome of PGD -- 6.4.Controversy in Assessing Clinical Outcome of Preimplantation Aneuploidy Testing -- 6.5.Reproductive Outcome Before and After PGD in Same Couples --

Note continued: 6.6.Possible Impact of Aneuploidy Origin -- 6.7.Possible Impact of 24 Chromosome Aneuploidy Testing -- References -- 7.Preimplantation Diagnosis and Establishment of Disease and Individual Specific Human Embryonic Stem Cell Lines -- 7.1.Sources for Establishing Human Embryonic Stem Cell Lines -- 7.2.Human Embryonic Stem Cell Lines with Genetic Disorders -- 7.2.1.Human Embryonic Stem Cell Lines with Chromosomal Disorders -- 7.2.2.Genetic Disease Specific Human Embryonic Stem Cell Lines -- 7.3.Development of Individual Specific hESC Lines -- 7.4.Human Embryonic Stem Cell Lines Resistant to HIV -- 7.5.Progress in Study of Disease Specific hESC Lines -- References -- 8.Social, Ethical, and Legal Aspects -- References.

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