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ABC of clinical genetics

https://libcat.nshealth.ca/en/permalink/provcat52752
[by] Helen M. Kingston. (3rd ed.) --London, England: BMJ Books , 2002.
Call Number
QZ 50 K55 2002
Location
IWK Health Sciences Library
Call Number
QZ 50 K55 2002
Author
Kingston, Helen
Responsibility
[by] Helen M. Kingston
Edition
3rd ed.
Place of Publication
London, England
Publisher
BMJ Books
Date of Publication
2002
Physical Description
120 p.
ISBN
727916270
Subjects (MeSH)
Genetics, Medical
Format
Book
Location
IWK Health Sciences Library
Copies
1
Loan Period
2 weeks
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Birth Defects in India

https://libcat.nshealth.ca/en/permalink/provcat46965
Anita Kar. Springer , 2021.
Available Online
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Location
Online
Available Online
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Responsibility
Anita Kar
Publisher
Springer
Date of Publication
2021
Physical Description
1 online resource (xxix, 362 pages) : illustrations
ISBN
9789811615542
Other Subjects
India
Specialty
Genetics, Medical
Public Health
Format
e-Book
Location
Online
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Botulinum Toxins

https://libcat.nshealth.ca/en/permalink/chpams37718
IWK. Cerebral Palsy Clinic, IWK. Neurosurgery Clinic, IWK. Medical, Surgical and Neurosciences Unit (MSNU). Halifax, NS: IWK Health Centre , 2022.
Pamphlet Number
PL-0326
Available Online
View Pamphlet
Botox administration.
Available Online
View Pamphlet
Corporate Author
IWK. Cerebral Palsy Clinic
IWK. Neurosurgery Clinic
IWK. Medical, Surgical and Neurosciences Unit (MSNU)
Alternate Title
A Guide for Families
Place of Publication
Halifax, NS
Publisher
IWK Health Centre
Date of Publication
2022
Format
Pamphlet
Language
English
Physical Description
1 electronic document : digital, PDF file
Subjects (MeSH)
Heredity
Congenital Abnormalities
Child Health
Surgical Procedures, Operative
Therapeutics
Diagnostic Techniques and Procedures
Genetics, Medical
Musculoskeletal system
Subjects (LCSH)
Therapeutics
Surgery, Operative
Orthopedics
Human genetics
Genetics
Diagnosis
Abnormalities, Human
Children--Health and hygiene
Abstract
Botox administration.
Notes
Formerly titled "Botox (Botulinum Toxin Type A): A Guide for Parents".
Responsibility
IWK Cerebral Palsy Clinic, Halifax, NS
Pamphlet Number
PL-0326
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Elsevier
Available Online
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Holdings
Vol 204, 2011 -
Location
Online
Available Online
View e-Journal
Publisher
Elsevier
Holdings
Vol 204, 2011 -
Publication Frequency
Monthly
ISSN
2210-7762
Specialty
Genetics, Medical
Medical Oncology
Format
e-Journal
Location
Online
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Cancer genetics and cytogenetics

https://libcat.nshealth.ca/en/permalink/provcat19467
Elsevier
Available Online
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Holdings
Vol 172, 2007 -
Location
Online
Available Online
View e-Journal
Publisher
Elsevier
Holdings
Vol 172, 2007 -
Publication Frequency
Irregular
ISSN
0165-4608
Specialty
Genetics, Medical
Medical Oncology
Format
e-Journal
Location
Online
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Cardiovascular Genetics and Genomics : Principles and Clinical Practice

https://libcat.nshealth.ca/en/permalink/provcat42927
edited by Dhavendra Kumar, Perry Elliott. --Cham: Springer , c2018.
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Location
Online
This title reflects the exponential growth in the knowledge and information on this subject and defines the extensive clinical translation of cardiovascular genetics and genomics in clinical practice. This concise, clinically oriented text is targeted at a broad range of clinicians who manage patients and families with a wide range of heterogeneous inherited cardiovascular conditions. Cardiovascular Genetics and Genomics: Principles and Clinical Practiceáincludes a concise and clear account on …
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Other Authors
Kumar, Dhavendra
Elliott, Perry
Responsibility
edited by Dhavendra Kumar, Perry Elliott
Place of Publication
Cham
Publisher
Springer
Date of Publication
c2018
Physical Description
1 online resource (xix, 920 p.) : 164 illus., 110 illus. in color
ISBN
9783319661148
9783319661124 (print ed.)
9783319661131 (print ed.)
9783319881799 (print ed.)
Subjects (MeSH)
Cardiovascular Diseases - genetics
Genomics - methods
Specialty
Cardiology
Genetics, Medical
Abstract
This title reflects the exponential growth in the knowledge and information on this subject and defines the extensive clinical translation of cardiovascular genetics and genomics in clinical practice. This concise, clinically oriented text is targeted at a broad range of clinicians who manage patients and families with a wide range of heterogeneous inherited cardiovascular conditions. Cardiovascular Genetics and Genomics: Principles and Clinical Practiceáincludes a concise and clear account on selected topics written by a team of leading experts on clinical cardiovascular genetics. Each chapter include key information to assist the clinician and case histories have been incorporated to reflect contemporary practice in clinical cardiovascular genetics and genomics. Therefore this will be of key importance to all professionals working in the discipline, from clinicians and trainees in cardiology, cardiac surgery, electrophysiology, immunology through geneticists, nursing staff and those involved in precision medicine.
Contents
Introduction to Genes, Genome and Inheritance -- Elements of Clinical Cardiovascular Genetics: Spectrum and Classification -- Principles and Practice of Genetic Counselling for Inherited Cardiac Conditions -- Genetic and Genomic Technologies: Next Generation Sequencing for Inherited Cardiovascular Conditions -- Pharmacogenetics and pharmacogenomics in cardiovascular medicine and surgery -- Congenital Cardiovascular Disorders including Adult Congenital Heart Disease -- Inherited cardiovascular metabolic disorders -- Mitochondrial cardiovascular diseases -- Inherited Cardiac Muscle Disorders: Hypertrophic and Restrictive Cardiomyopathies -- Inherited Cardiac Muscle Disorders: Dilated Cardiomyopathy -- Inherited Cardiac Muscle Disorders: Arrhythmogenic Right Ventricular Cardiomyopathy -- Inherited Cardiac Muscle Disorders: Left Ventricular Noncompaction -- Inherited arrhythmias: LQTS/SQTS/CPVT -- Inherited arrhythmias: Brugada syndrome and early repolarisation syndrome -- Inherited Conduction Disease and Atrial Fibrillation -- Cardiovascular manifestations in Duchenne/Becker muscular dystrophy and other primary myopathies -- Inherited cardiac amyloidosis -- Cardiovascular manifestations of inherited myotonias -- Marfan syndrome and related inherited aortopathies -- Cardiovascular manifestations in inherited connective tissue disorders -- Thoracic aortic dilatation, aneurysm and dissection -- Genetics and genomics of coronary artery disease -- Cardiovascular manifestations of immune-mediated inflammatory Disorders -- Genetics and Genomics of Stroke -- Genetics and genomics of systemic hypertension -- Inherited pulmonary arterial hypertension -- Genetics and Genomics of Sudden Unexplained Cardiac Death -- Specific issues in clinical genetics and genetic counselling practices related to inherited cardiovascular conditions -- Multidisciplinary management for inherited cardiovascular conditions -- Internal devices and interventions for inherited cardiac conditions -- Inherited cardiovascular conditions: phenotype-genotype data mining and sharing; databases.
Format
e-Book
Location
Online
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Cellular and Molecular Basis of Mitochondrial Inheritance : Mitochondrial Disease and Fitness

https://libcat.nshealth.ca/en/permalink/provcat44497
Peter Sutovsky, editor. --Cham: Springer , c2019.
Available Online
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Location
Online
This new volume of our successful book series Advances in Anatomy, Embryology and Cell Biology is focused on mitochondrial inheritance in humans and both vertebrate and invertrebate animals including Drosophila, C. elegans, bivalve molusc Mytilus and livestock mammals. Special consideration is given to cellular mechanisms promoting uniparental inheritance of mitochondria and mitochondrial genes, evolutionary perspectives, and biomedical and epidemiological considerations. Contributed by five di…
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Other Authors
Sutovsky, Peter
Responsibility
Peter Sutovsky, editor
Place of Publication
Cham
Publisher
Springer
Date of Publication
c2019
Physical Description
1 online resource (xi, 126 p.) : 28 illus., 24 illus. in color
Series Vol.
231
Series Title
Advances in anatomy, embryology and cell biology
ISBN
9783030045708
9783030045692 (Print ed.)
9783030045715 (Print ed.)
ISSN
0301-5556
Subjects (MeSH)
DNA, Mitochondrial
Extrachromosomal Inheritance
Genes, Mitochondrial
Mitochondria - genetics
Specialty
Cell Biology
Genetics, Medical
Molecular Medicine
Abstract
This new volume of our successful book series Advances in Anatomy, Embryology and Cell Biology is focused on mitochondrial inheritance in humans and both vertebrate and invertrebate animals including Drosophila, C. elegans, bivalve molusc Mytilus and livestock mammals. Special consideration is given to cellular mechanisms promoting uniparental inheritance of mitochondria and mitochondrial genes, evolutionary perspectives, and biomedical and epidemiological considerations. Contributed by five distinguished mitochondrial research teams from around the world, this volume will target a wide audience of physiologists, anatomists, cell, and developmental and evolutionary biologists, as well as physicians, veterinarians, livestock specialists and biomedical researchers.
Contents
Autophagosomal Sperm Organelle Clearance and mtDNA Inheritance in C. elegans -- Doubly Uniparental Inheritance of mtDNA: An Unappreciated Defiance of a General Rule -- Exogenous Factors May Differentially Influence the Selective Costs of mtDNA Mutations -- Transmission of Dysfunctional Mitochondrial DNA and Its Implications for Mammalian Reproduction -- Mitochondria Inspire a Lifestyle.
Format
e-Book
Location
Online
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Chimerism : A Clinical Guide

https://libcat.nshealth.ca/en/permalink/provcat43120
Nicole L. Draper, editor. --Cham: Springer , c2018.
Available Online
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Location
Online
This text provides a comprehensive, up-to-date review of chimerism. The first part of the volume presents the causes of chimerism, specifically focusing on fertilization and early embryonic errors, pregnancy and multiple gestations, and transplantation and transfusion. The second part of the volume outlines clinical identification and consequences of chimerism. Chapters in this section focus on the effects of chimerism on testing in relationship determination and forensics, prenatal genetic tes…
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Other Authors
Draper, Nicole L.
Responsibility
Nicole L. Draper, editor
Place of Publication
Cham
Publisher
Springer
Date of Publication
c2018
Physical Description
1 online resource (xi, 200 p.) : 20 illus., 15 illus. in color
ISBN
9783319898667
9783319898650 (print ed.)
9783319898674 (print ed.)
9783030078812 (print ed.)
Subjects (MeSH)
Chimerism
Genetic Phenomena
Immune System Phenomena
Specialty
Genetics, Medical
Abstract
This text provides a comprehensive, up-to-date review of chimerism. The first part of the volume presents the causes of chimerism, specifically focusing on fertilization and early embryonic errors, pregnancy and multiple gestations, and transplantation and transfusion. The second part of the volume outlines clinical identification and consequences of chimerism. Chapters in this section focus on the effects of chimerism on testing in relationship determination and forensics, prenatal genetic testing and screening, and blood and HLA typing. This part also reviews new data concerning matching donors and recipients for transplantation, while outlining the risks of transplantation, such as graft-vs-host disease and passenger lymphocyte syndrome. Additionally, evidence on the role of chimerism in autoimmune disease and cancer is presented. Written by experts in the field, Chimerism: A Clinical Guide is a valuable resource for clinicians and researchers that will help guide patient management and stimulate investigative efforts.
Contents
Part I. Causes of Chimerism in Humans -- Fertilization and Early Embryonic Errors -- Pregnancy and Multiple Gestations -- Transplantation and Transfusion -- Part II. Clinical Identification and Consequences of Chimerism -- Relationship Testing and Forensics -- Prenatal Genetic Testing and Screening -- Blood Typing Discrepancies -- Hematopoietic Stem Cell Donor Selection and Graft-Versus-Host Disease -- Passenger Lymphocyte Syndrome -- Chimerism: A Clinical Guide to Tolerance Induction -- Autoimmune Disease -- Cancer.
Format
e-Book
Location
Online
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Clinical Cardiogenetics

https://libcat.nshealth.ca/en/permalink/provcat45501
Hubert F. Baars, Pieter A. F. M. Doevendans, Arjan C. Houweling, J. Peter van Tintelen, editors. (Third edition) --Cham: Springer , c2020.
Available Online
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Location
Online
This thoroughly revised third edition provides a comprehensive grounding on hereditary heart diseases with special emphasis on the genetic aspects of these conditions. It continues to provide the expertise that all cardiologists, clinical and molecular geneticists, and related medical professionals require to provide optimal care for patients with cardiac disease of genetic origin and for their relatives. Topics covered include the different cardiomyopathies, the primary arrhythmia syndromes an…
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Other Authors
Baars, Hubert F.
Doevendans, Pieter A.F.M.
Houweling, Arjan C.
van Tintelen, J. Peter
Responsibility
Hubert F. Baars, Pieter A. F. M. Doevendans, Arjan C. Houweling, J. Peter van Tintelen, editors
Edition
Third edition
Place of Publication
Cham
Publisher
Springer
Date of Publication
c2020
Physical Description
1 online resource (xiii, 461 p.) : 131 illus., 122 illus. in color
ISBN
9783030454579
9783030454562 (Print ed.)
9783030454586 (Print ed.)
9783030454593 (Print ed.)
Subjects (MeSH)
Cardiovascular Diseases - genetics
Genetic Predisposition to Disease
Heart Defects, Congenital
Specialty
Cardiology
Genetics, Medical
Abstract
This thoroughly revised third edition provides a comprehensive grounding on hereditary heart diseases with special emphasis on the genetic aspects of these conditions. It continues to provide the expertise that all cardiologists, clinical and molecular geneticists, and related medical professionals require to provide optimal care for patients with cardiac disease of genetic origin and for their relatives. Topics covered include the different cardiomyopathies, the primary arrhythmia syndromes and the hereditary thoracic aortic disorders. In addition other topics such as cardiac involvement in hereditary neuromuscular diseases, the clinical policy for sudden cardiac death and the possibilities of pre-implantation genetic diagnosis are included to extend the discussion. Clinical Cardiogenetics compiles current knowledge on the topic in an easy to understand reference. It provides a practical clinical primer for cardiologists, clinical geneticists, trainees and other physicians involved in the management of these patients.
Contents
Part I. Genetics -- 1. Introduction to Molecular Genetics -- 2. Clinical Genetics -- Part II. Cardiomyopathies -- 3. Introduction to Hereditary Cardiomyopathies -- 4. Hypertrophic Cardiomyopathy -- 5. Dilated Cardiomyopathy -- 6. Arrhythmogenic Cardiomyopathy -- 7. Left Ventricular Noncompaction -- 8. Restrictive Cardiomyopathy -- 9. Metabolic Cardiomyopathy -- 10. Cardiac Amyloidosis -- 11. Mitochondrial Cardiomyopathies -- Part III. Inherited Arrhythmia Syndromes -- 12. Long QT Syndrome -- 13. Short QT Syndrome -- 14. Brugada Syndrome -- 15. Catecholaminergic Polymorphic Ventricular -- 16. Idiopathic Ventricular Fibrillation and Early Repolarization Syndrome -- 17. Hereditary Cardiac Conduction Diseases -- 18. A Molecular Genetic Perspective on Atrial Fibrillation -- Part IV. Hereditary Thoracic Aortic Diseases -- 19. Heritable Thoracic Aortic Diseases: Syndromal and Isolated (F)TAAD -- 20. Bicuspid Aortic Valve -- Part V. Miscellaneous -- 21. Sudden Cardiac Death in the Young: Post-mortem Investigation and Cardiogenetic Evaluation of Victims and Their Relatives -- 22. Hereditary Neuromuscular Diseases and Cardiac Involvement -- 23. Genetic Disorders of Lipoprotein Metabolism: Diagnosis and Management -- 24. Genetics of (Premature) Coronary Artery Disease -- 25. The Genetics of Mitral Valve Prolapse -- 26. Induced Pluripotent Stem Cells -- 27. Prenatal Diagnosis and Preimplantation Genetic Testing for Inherited Cardiac Diseases.
Format
e-Book
Location
Online
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Clinical Relevance of Genetic Factors in Pulmonary Diseases

https://libcat.nshealth.ca/en/permalink/provcat43400
Takeshi Kaneko, editor. --Singapore: Springer , c2018.
Available Online
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Location
Online
This book describes the underlying genetic basis of common pulmonary diseases and discusses their pathogenesis and pathophysiology. These insights provide the basis for understanding different subtypes and phonotypes, and will promote better treatment strategies and individualized medicine. The book provides new and valuable information for the development of the areas of study, as well as practical guidelines for clinicians engaged in treating pulmonary diseases. This volume of the Respiratory…
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Other Authors
Kaneko, Takeshi
Responsibility
Takeshi Kaneko, editor
Place of Publication
Singapore
Publisher
Springer
Date of Publication
c2018
Physical Description
1 online resource (ix, 344 p.) : 55 illus., 36 illus. in color
Series
Respiratory Disease Series: Diagnostic Tools and Disease Managements
Series Title
Respiratory disease series
ISBN
9789811081446
9789811081439 (print ed.)
9789811081453 (print ed.)
ISSN
2509-5552
Subjects (MeSH)
Genetic Predisposition to Disease
Lung Diseases - diagnosis
Lung Diseases - genetics
Lung Diseases - physiopathology
Precision Medicine
Risk Factors
Specialty
Genetics, Medical
Pulmonary Medicine
Abstract
This book describes the underlying genetic basis of common pulmonary diseases and discusses their pathogenesis and pathophysiology. These insights provide the basis for understanding different subtypes and phonotypes, and will promote better treatment strategies and individualized medicine. The book provides new and valuable information for the development of the areas of study, as well as practical guidelines for clinicians engaged in treating pulmonary diseases. This volume of the Respiratory Disease Series : Diagnostic Tools and Disease Managements will broaden the understanding of beginning and experienced researchers and clinicians who treat pulmonary diseases. Moreover, residents and clinicians engaged in medical oncology will find it a valuable guide to support them in their day-to-day work.
Contents
Part I. Introduction -- 1. Clinical development of genomic medicine in pulmonary diseases: Are genetic factors enough to determine the phenotype and inheritance of pulmonary diseases? -- 2. Statistical approaches and strategies for complex diseases - Overview - : What is the rationale for the genome-wide approach to understand complex diseases - its application and limitations -- Part II. Genetic Disorders in Pulmonary Disease -- 3. Bronchial asthma: Is asthma inherited? -- 4. COPD - Hereditary (A1-AT) and Non-hereditary: What are the roles of genetic factors in the pathogenesis of COPD? -- 5. Smoking behavior and cessation (nicotine addiction): Are genetic factors involved in smoking behavior? -- 6. Cystic fibrosis, Primary ciliary dyskinesia and Diffuse panbronchiolitis - Hereditary and Non-Hereditary: What are the roles of genetic factors in the pathogenesis of these diseases? -- 7. Pulmonary Fibrosis -Hereditary and Nonhereditary: What are the role of genetic factors in the pathogenesis of pulmonary fibrosis? -- 8. Other diffuse lung diseases - Diffuse cystic lung diseases (LAM, TSC, BHD), Sarcoidosis, Pulmonary alveolar proteinosis, and Pulmonary alveolar microlithiasis: What are the roles of genetic factors in the pathogenesis of these diseases? -- 9. Pulmonary vascular diseases. Pulmonary hypertension and HHT: What are the roles of genetic factors in the pathogenesis of pulmonary vascular diseases? -- 10. Mycobacterial infection—TB and NTM: What are the roles of genetic factors in the pathogenesis of mycobacterial infection? -- 11. Pulmonary malignancies (1). Lung cancer: What are the roles of genetic factors in lung cancer pathogenesis? -- 12. Pulmonary malignancies (2). Mesothelioma: What are the Roles of Genetic Factors in the Pathogenesis of Mesothelioma? -- 13. Genetic Factors in Sleep Disorders: What are the roles of genetic factors in the pathogenesis of sleep disorders? -- 14. Pharmacokinetics, pharmacodynamics, and toxicities: What should we know about genetic factors that affect the pharmacotherapy of pulmonary diseases? -- Part III. Oncogenic Driver Mutation (Somatic Mutations) in Lung Cancer -- 15. EGFR: How important is EGFR mutation status in the management of lung cancer? -- 16. ALK, and others: How important are ALK, and other mutations in the management of lung cancer? -- Part IV. Current Topics -- 17. Application of high-throughput technologies in personal genomics: How is the progress in personal genome service? -- 18. Nucleic acid amplification-based diagnostics for pulmonary diseases : What is the current state and perspectives of nucleic acid amplification technologies used in diagnostics associated with pulmonary diseases?
Format
e-Book
Location
Online
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A Clinician's Guide to Sperm DNA and Chromatin Damage

https://libcat.nshealth.ca/en/permalink/provcat43221
Armand Zini, Ashok Agarwal, editors. --Cham: Springer , c2018.
Available Online
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Location
Online
This comprehensive, up-to-date text, which brings together the key practical elements of the rapidly evolving field of sperm DNA and chromatin abnormalities, is divided thematically into five main sections. Part I discusses human sperm chromatin structure and nuclear architecture, while part II presents laboratory evaluation of sperm DNA damage, including SCSA, SCD, TUNEL and Comet assays, and cytochemical tests. Biological and clinical factors in the etiology of sperm DNA damage are discussed …
Available Online
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Other Authors
Zini, Armand
Agarwal, Ashok
Responsibility
Armand Zini, Ashok Agarwal, editors
Place of Publication
Cham
Publisher
Springer
Date of Publication
c2018
Physical Description
1 online resource (xix, 605 p.)
ISBN
9783319718156
9783319718149 (print ed.)
9783319718163 (print ed.)
Subjects (MeSH)
Chromatin - pathology
DNA Damage
Infertility, Male - etiology
Spermatozoa - pathology
Specialty
Genetics, Medical
Men's Health
Reproductive Medicine
Abstract
This comprehensive, up-to-date text, which brings together the key practical elements of the rapidly evolving field of sperm DNA and chromatin abnormalities, is divided thematically into five main sections. Part I discusses human sperm chromatin structure and nuclear architecture, while part II presents laboratory evaluation of sperm DNA damage, including SCSA, SCD, TUNEL and Comet assays, and cytochemical tests. Biological and clinical factors in the etiology of sperm DNA damage are discussed in part III, including oxidative stress, abortive apoptosis, cancer, and environmental and lifestyle factors. Part IV presents clinical studies on the utility of sperm DNA damage tests, both with natural and ART-assisted pregnancies, and debates the clinical utility of such tests. Finally, part V discusses current treatment options, such as antioxidant therapy, varicocelectomy, advanced sperm processing techniques and the use of testicular sperm. We are now beginning to better understand the unique organization of the sperm chromatin, as well as the nature and etiology of sperm DNA damage. Written and edited by worldwide experts in andrology, A Clinician's Guide to Sperm DNA and Chromatin Damage is an excellent resource for reproductive medicine and REI specialists, urologists, reproductive biologists and any professional working with the infertile male.
Contents
Part I. Human Sperm Chromatin Structure -- 1. Sperm Chromatin: An Overview -- 2. Sperm Nucleoproteins (Histones and Protamines) -- 3. Sperm Nuclear Architecture -- Part II. Laboratory Evaluation of Sperm Chromatin and DNA Damage -- 4. Sperm Chromatin Structure Assay (SCSA®): Evolution from Origin to Clinical Utility -- 5. TUNEL Assay -- 6. TUNEL Assay by Benchtop Flow Cytometer in Clinical Laboratories -- 7. The Comet Assay -- 8. Sperm Chromatin Dispersion (SCD) Assay -- 9. Cytochemical Tests of Sperm Chromatin Maturity -- 10. Is There an Optimal Sperm DNA Test? -- Part III. Etiology of Sperm DNA Damage: Biological and Clinical Factors -- 11. Oxidative Stress -- 12. Apoptosis in Ejaculated Spermatozoa and in the Normal and Pathological Testes: Abortive Apoptosis and Sperm Chromatin Damage -- 13. Defective DNA Repair in Spermiogenesis -- 14. Defective Spermatogenesis and Sperm DNA Damage -- 15. Sperm Chromatin and Lifestyle Factors -- 16. Cancer and Sperm DNA Damage -- 17. Sperm Chromatin and Environmental Factors -- 18. Sperm DNA Damage and Oocyte Repair Capability -- Part IV. Clinical Studies on Utility of Sperm DNA Damage Tests -- 19. Experimental Studies on Sperm DNA Fragmentation and Reproductive Outcomes -- 20. Sperm DNA and Natural Pregnancy -- 21. Sperm DNA and ART (IUI, IVF, ICSI) Pregnancy -- 22. Sperm DNA and Pregnancy Loss After IVF and ICSI -- 23. Sperm DNA Tests Are Clinically Useful: Pro -- 24. Sperm DNA Tests Are Clinically Useful: CON -- Part V. Treatment Options for Men with Sperm DNA Damage -- 25. Antioxidant Therapy -- 26. Varicocelectomy -- 27. Physiological Intracytoplasmic Sperm Insemination Based on Hyaluronic Acid-Binding Ability -- 28. Advanced Sperm Processing/Selection Techniques -- 29. Use of Testicular Sperm for ICSI: Pro -- 30. Debate on the Use of Testicular Sperm for ICSI: Con -- 31. Strategies to Diminish DNA Damage in Sperm Samples Used for ART -- 32. Sperm DNA Testing: Where Do We Go from Here?
Format
e-Book
Location
Online
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Color atlas of genetics

https://libcat.nshealth.ca/en/permalink/provcat42052
Eberhard Passarge ; with 183 color plates prepared by Jürgen Wirth. (5th edition, revised and updated) --Stuttgart: Thieme , c2018.
Available Online
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Location
Online
"From reviews of previous editions: "A remarkable achievement ...concise but informative...No geneticist or physician interested in genetic diseases should be without a copy..." -- American Journal of Medical Genetics Ever since the international Human Genome Project achieved its extraordinary goal of sequencing and mapping the entire human genome--with far-reaching implications for understanding the causes and diagnosis of human genetic disorders--progress in the field has been rapid. In the f…
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Author
Passarge, Eberhard
Responsibility
Eberhard Passarge ; with 183 color plates prepared by Jürgen Wirth
Edition
5th edition, revised and updated
Alternate Title
Colour atlas of genetics
Genetics
Place of Publication
Stuttgart
Publisher
Thieme
Date of Publication
c2018
Physical Description
1 online resource
ISBN
9783132414402
9783132414419 (eISBN)
Subjects (MeSH)
Genetics, Medical
Specialty
Genetics
Abstract
"From reviews of previous editions: "A remarkable achievement ...concise but informative...No geneticist or physician interested in genetic diseases should be without a copy..." -- American Journal of Medical Genetics Ever since the international Human Genome Project achieved its extraordinary goal of sequencing and mapping the entire human genome--with far-reaching implications for understanding the causes and diagnosis of human genetic disorders--progress in the field has been rapid. In the fourth edition of the bestselling Color Atlas of Genetics, readers will get a full overview of the field today, with an emphasis on the interface between fundamental principles and practical applications in medicine. The book utilizes the signature Flexibook format designed for easy visual learning and retention, and is invaluable for students, clinicians, and scientists interested in keeping current in this fast-moving area. New topics in the fully revised fourth edition of this highly praised atlas: Genetic signaling pathways involved in genetic disorders; DNA repair systems; Genomic disorders and genome-wide association studies; Cancer genomes; Ciliopathies, neurocristopathies, and other groups of causally related disorders; Epigenetic changes in certain disorders; Illustrated outline of human evolution. With almost 200 stunning color plates concisely explained on facing pages, and including useful tables of data, a glossary of terms, key references, and online resources, this book makes every concept clear and accessible. It is an excellent introduction to genetics and basic genomics for students of medicine and biology, as well as an ideal teaching aid and refresher for investigators in any field of medicine or science"--Provided by publisher.
Format
e-Book
Publication Type
Atlas
Handbook
Location
Online
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Congenital Anomalies of the Upper Extremity

https://libcat.nshealth.ca/en/permalink/provcat46652
Donald R. Laub Jr. (Second edition) Springer , 2021.
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Location
Online
Available Online
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Responsibility
Donald R. Laub Jr.
Edition
Second edition
Publisher
Springer
Date of Publication
2021
Physical Description
1 online resource (xvi, 477 pages) ; illustrations
ISBN
9783030641597
Specialty
Genetics, Medical
Orthopedics
Format
e-Book
Location
Online
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Congenital Bleeding Disorders : Diagnosis and Management

https://libcat.nshealth.ca/en/permalink/provcat42596
Akbar Dorgalaleh, editor. --Cham: Springer , c2018.
Available Online
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Location
Online
This book describes in detail the clinical presentation, diagnosis, and management of a wide range of congenital bleeding disorders. It will assist readers in overcoming the significant challenges involved in clinical and laboratory diagnosis and in providing effective clinical care that makes optimal use of new products, including recombinant factor concentrate. The coverage ranges from hemophilia A and B and von Willebrand disease to rare bleeding disorders such as congenital factor V, factor…
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Other Authors
Dorgalaleh, Akbar
Responsibility
Akbar Dorgalaleh, editor
Place of Publication
Cham
Publisher
Springer
Date of Publication
c2018
Physical Description
1 online resource (xiv, 396 p.) : 93 illus., 85 illus. in color
ISBN
9783319767239
9783319767222 (print ed.)
9783319767246 (print ed.)
Subjects (MeSH)
Blood Coagulation Disorders, Inherited
Blood Coagulation Factors
Coagulation Protein Disorders
Hemostasis
Specialty
Genetics, Medical
Hematology
Abstract
This book describes in detail the clinical presentation, diagnosis, and management of a wide range of congenital bleeding disorders. It will assist readers in overcoming the significant challenges involved in clinical and laboratory diagnosis and in providing effective clinical care that makes optimal use of new products, including recombinant factor concentrate. The coverage ranges from hemophilia A and B and von Willebrand disease to rare bleeding disorders such as congenital factor V, factor X, factor XI, and factor XIII deficiency and inherited platelet function disorders. The exceptional attention to rarer conditions is of particular importance given the considerable risk of overlooking them during diagnosis, with potential consequences for disease-related morbidity and mortality. The authors are acknowledged specialists in the field from across the world who have particular expertise in the disorder that they discuss. The book will be of value to hematologists, oncologists, pediatricians, laboratory specialists and technicians, general physicians, and trainees.
Contents
Part I. An Overview of Hemostasis and Congenital Bleeding Disorders -- 1. An Overview of Hemostasis -- 2. Congenital Bleeding Disorders -- Part II. Common Bleeding Disorders -- 3. von Willebrand Disease -- 4. Hemophilia A -- 5. Hemophilia B -- Part III. Rare Bleeding Disorders -- 6. Congenital Fibrinogen Disorders -- 7. Congenital Factor II Deficiency -- 8. Congenital Factor V Deficiency -- 9. Multiple Coagulation Factor Deficiency -- 10. Congenital Factor VII Deficiency -- 11. Congenital Factor X Deficiency -- 12. Congenital Factor XI Deficiency -- 13. Congenital Factor XIII Deficiency -- Part IV. Inherited Platelet Function Disorders -- 14. Glanzmann Thrombasthenia -- 15. Bernard-Soulier Syndrome -- 16. Gray Platelet Syndrome (GPS).
Format
e-Book
Location
Online
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DNA Repair Disorders

https://libcat.nshealth.ca/en/permalink/provcat44222
Chikako Nishigori, Kaoru Sugasawa, editors. --Singapore: Springer , 2019.
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Location
Online
This book focuses on the clinical aspects of DNA repair disorders. Nucleotide excision repair is an important pathway for humans, as it is involved in biologically fundamental functions. This work presents clinical features together with the pathogenesis of DNA repair disorders such as Xertoderma Pigmentosum (XP). Studies on animal models are included as well. Clinical feature characteristics of each clinical subtype of XP are depicted according to the genotype, giving accurate and detailed inf…
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Other Authors
Nishigori, Chikako
Sugasawa, Kaoru
Responsibility
Chikako Nishigori, Kaoru Sugasawa, editors
Place of Publication
Singapore
Publisher
Springer
Date of Publication
2019
Physical Description
1 online resource (viii, 221 p.) : 46 illus., 29 illus. in color
ISBN
9789811067228
9789811067211 (Print ed.)
9789811067235 (Print ed.)
Subjects (MeSH)
DNA Repair-Deficiency Disorders
Xeroderma Pigmentosum - genetics
Specialty
Genetics, Medical
Abstract
This book focuses on the clinical aspects of DNA repair disorders. Nucleotide excision repair is an important pathway for humans, as it is involved in biologically fundamental functions. This work presents clinical features together with the pathogenesis of DNA repair disorders such as Xertoderma Pigmentosum (XP). Studies on animal models are included as well. Clinical feature characteristics of each clinical subtype of XP are depicted according to the genotype, giving accurate and detailed information about the clinical features in terms of gene alterations, change of protein structure, and dysfunction in some of the repair pathways. This book is unique in that it provides detailed information on clinical features from more than 100 patients with XP-A, which is characterized by very severe manifestation of skin photosensitivity and neurological dysfunction. It will give readers important knowledge for understanding the concept and molecular mechanisms of DNA repair disorders. It also describes how to treat and care for patients with XP based on vast experience in clinical practice. DNA Repair Disorders will be a useful resource not only for physicians and basic scientists who are interested in and/or take care of patients with DNA repair disorders, but also dermatologists, neurologists, and researchers in the field of radiation biology and photobiology.
Contents
1. Molecular Mechanism of DNA Damage Recognition for Global Genomic Nucleotide Excision Repair: A Defense System Against UV-Induced Skin Cancer -- 2. Disorders with Deficiency in TC-NER: Molecular Pathogenesis of Cockayne Syndrome and UV-Sensitive Syndrome -- 3. Neurological Symptoms in Xeroderma Pigmentosum -- 4. Hearing Impairment in Xeroderma Pigmentosum: Animal Models and Human Studies -- 5. Epidemiological Study of Xeroderma Pigmentosum in Japan: Genotype-Phenotype Relationship -- 6. Prenatal Diagnosis of Xeroderma Pigmentosum -- 7. Neurological Disorders and Challenging Intervention in Xeroderma Pigmentosum and Cockayne Syndrome -- 8. Xeroderma Pigmentosum in the UK -- 9. Cockayne Syndrome: Clinical Aspects -- 10. Trichothiodystrophy -- 11. Rothmund–Thomson Syndrome -- 12. Translesion DNA Synthesis -- 13. Ataxia-Telangiectasia and Nijmegen Breakage Syndrome -- 14. Management of Xeroderma Pigmentosum.
Format
e-Book
Location
Online
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Emery and Rimoin's principle and practice of medical genetics and genomics : metabolic disorders

https://libcat.nshealth.ca/en/permalink/provcat50644
Pyeritz, Reed E. (7th ed.) --London, England: Academic Press , 2021.
Available Online
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Location
Online
Available Online
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Author
Pyeritz, Reed E.
Other Authors
Korf, Bruce R.
Grody, Wayne W.
Edition
7th ed.
Place of Publication
London, England
Publisher
Academic Press
Date of Publication
2021
ISBN
9780128125359
Subjects (MeSH)
Genetics, Medical
Metabolic Diseases
Notes
Access to this online resource is restricted to IWK Health Centre employees working from inside the hospital network.
Format
e-Book
Location
Online
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Emery and Rimoin's principles and practice of medical genetics

https://libcat.nshealth.ca/en/permalink/provcat20935
Rimoin, David L. (4th ed.) --Edinburgh, Scotland: Churchill Livingstone , 2002.
Call Number
QZ 50 E533 2002 REF
Location
Dickson Building
Sub-Location
REFERENCE
Call Number
QZ 50 E533 2002 REF
Author
Rimoin, David L
Edition
4th ed.
Place of Publication
Edinburgh, Scotland
Publisher
Churchill Livingstone
Date of Publication
2002
Physical Description
3 vol.
ISBN
0443064342
Subjects (MeSH)
Genetics, Medical
Format
Book
Location
Dickson Building
Sub-Location
REFERENCE
Loan Period
In library use
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Emery and Rimoin's principles and practice of medical genetics and genomics : cardiovascular, respiratory, and gastrointestinal disorders

https://libcat.nshealth.ca/en/permalink/provcat43997
editors Reed Pyeritz, Bruce Korf, Wayne Grody. (7th ed.) --London, UK: Elsevier , c2020.
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Access
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Location
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Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Cardiovascular, Respiratory, and Gastrointestinal Disorders, Seventh Edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies. This comprehensive, yet practical, resource emphasizes theory and research fundamentals relating to applications of medical genetics across the full spe…
Available Online
View e-Book
Other Authors
Pyeritz, Reed
Responsibility
editors Reed Pyeritz, Bruce Korf, Wayne Grody
Edition
7th ed.
Alternate Title
Principles & practice of medical genetics & genomics
Place of Publication
London, UK
Publisher
Elsevier
Date of Publication
c2020
Physical Description
1 online resource, 594 p.
ISBN
9780128125328
Subjects (MeSH)
Genetic Counseling
Genetic Diseases, Inborn - genetics
Genetic Predisposition to Disease
Genetic Techniques
Genetics, Medical - methods
Specialty
Genetics, Medical
Abstract
Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Cardiovascular, Respiratory, and Gastrointestinal Disorders, Seventh Edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies. This comprehensive, yet practical, resource emphasizes theory and research fundamentals relating to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine.
Access
Registration required for PDF access.
Format
e-Book
Location
Online
Less detail

Emery and Rimoin's principles and practice of medical genetics and genomics : cardiovascular, respiratory, and gastrointestinal disorders

https://libcat.nshealth.ca/en/permalink/provcat50645
Pyeritz, Reed E. (7th ed.) --London, England: Academic Press , 2020.
Available Online
View e-Book
Location
Online
Available Online
View e-Book
Author
Pyeritz, Reed E.
Other Authors
Korf, Bruce R.
Grody, Wayne W.
Edition
7th ed.
Place of Publication
London, England
Publisher
Academic Press
Date of Publication
2020
ISBN
9780128125328
Subjects (MeSH)
Genetic Counseling
Genetic Diseases, Inborn
Genetic Predisposition to Disease
Genetic Techniques
Genetics, Medical - methods
Notes
Access to this online resource is restricted to IWK Health Centre employees working from inside the hospital network.
Format
e-Book
Location
Online
Less detail

Emery and Rimoin's principles and practice of medical genetics and genomics : clinical principles and applications

https://libcat.nshealth.ca/en/permalink/provcat43442
editors Reed Pyeritz, Bruce Korf, Wayne Grody. (7th ed.) --London, UK: Elsevier , c2019.
Available Online
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Access
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Location
Online
The Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. This comprehensive yet practical resource emphasizes theory and research fundamentals related t…
Available Online
View e-Book
Other Authors
Pyeritz, Reed
Responsibility
editors Reed Pyeritz, Bruce Korf, Wayne Grody
Edition
7th ed.
Alternate Title
Emery & Rimoin's principles and practice of medical genetics & genomics - clinical principles & applications
Principles and practice of medical genetics and genomics
Place of Publication
London, UK
Publisher
Elsevier
Date of Publication
c2019
Physical Description
1 online resource, 397 p.
ISBN
9780128125366
Subjects (MeSH)
Genetic Counseling
Genetic Diseases, Inborn - genetics
Genetic Predisposition to Disease
Genetic Techniques
Genetics, Medical - methods
Specialty
Genetics, Medical
Abstract
The Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly.
Access
Registration required for PDF access.
Format
e-Book
Location
Online
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