Atlas of Genetic Diagnosis and Counseling
https://libcat.nshealth.ca/en/permalink/provcat30009
by Harold Chen.
--Totowa, NJ:
Humana Press
, c2006.
- Available Online
- View e-Book
- Location
- Online
- Available Online
- View e-Book
- Author
- Chen, Harold
- Responsibility
- by Harold Chen
- Place of Publication
- Totowa, NJ
- Publisher
- Humana Press
- Date of Publication
- c2006
- ISBN
- 9781603271615
- Subjects (LCSH)
- Genetics
- Reproductive medicine
- Format
- e-Book
- Location
- Online
Atlas of Genetic Diagnosis and Counseling
https://libcat.nshealth.ca/en/permalink/provcat41222
Harold Chen.
(Third edition)
--New York, NY:
Springer
, 2017.
- Available Online
- View e-Book
- Location
- Online
Dr. Harold Chen shares his almost 50 years of clinical genetics practice in this new edition of a comprehensive pictorial atlas, featuring almost 290 genetic disorders, malformations, and malformation syndromes. The author provides a detailed outline for each disorder, describing its genetics, basic defects, clinical features, diagnostic tests, and counseling issues, including recurrence risk, prenatal diagnosis, and management. Numerous color photographs of prenatal ultrasounds, imagings, cyto…
- Available Online
- View e-Book
- Author
- Chen, Harold
- Responsibility
- Harold Chen
- Edition
- Third edition
- Place of Publication
- New York, NY
- Publisher
- Springer
- Date of Publication
- 2017
- Physical Description
- 1 online resource (xxiii, 3080 pages) : 1242 illus., 1050 illus. in color
- Series Title
- Springer reference
- ISBN
- 9781493924011
- 9781493924004 (print ed.)
- Subjects (MeSH)
- Genetic Counseling
- Genetic Diseases, Inborn
- Prenatal Diagnosis
- Abstract
- Dr. Harold Chen shares his almost 50 years of clinical genetics practice in this new edition of a comprehensive pictorial atlas, featuring almost 290 genetic disorders, malformations, and malformation syndromes. The author provides a detailed outline for each disorder, describing its genetics, basic defects, clinical features, diagnostic tests, and counseling issues, including recurrence risk, prenatal diagnosis, and management. Numerous color photographs of prenatal ultrasounds, imagings, cytogenetics, and postmortem findings illustrate the clinical features of patients at different ages, patients with varying degrees of severity, and the optimal diagnostic strategies. The disorders cited are supplemented by case histories and diagnostic confirmation by cytogenetics, biochemical, and molecular techniques, when available. Since the publication of the previous edition in 2012, the atlas has been widely accepted and used in light of rapid progress in genetic and gnomic information. In this new edition, additional genetic disorders are added, as well as extensive updates to the previous disorders with new illustrations, supplemented by case and family history, clinical features, and laboratory data, especially molecular confirmation if available. The atlas is written in outline format for ease of use. Atlas of Genetic Diagnosis and Counseling, Third Edition is of great value to medical geneticists, genetic counselors, pediatricians, neonatologists, developmental pediatricians, perinatologists, obstetricians, neurologists, pathologists, and any physicians and health care professionals caring for handicapped children such as craniofacial surgeons, plastic surgeons, otolaryngologists, and orthopedists. It is the definitive volume for helping all physicians to understand and recognize genetic diseases and malformation syndrom es and better evaluate, counsel, and manage affected patients.
- Contents
- Acardia -- Achondrogenesis -- Achondroplasia -- Adams-Oliver Syndrome -- Agnathia -- Aicardi Syndrome -- Alagille Syndrome -- Albinism -- Alpha-Thalassemia X-linked Mental Retardation Syndrome -- Ambiguous Genitalia -- Amniotic Deformity, Adhesions, Mutilations (ADAM) Complex -- Androgen Insensitivity Syndrome -- Angelman Syndrome -- Apert Syndrome -- Aplasia Cutis Congenita -- Arthrogryposis Multiplex Congenita -- Asphyxiating Thoracic Dystrophy -- Ataxia-Telangiectasia -- Atelosteogenesis -- Autism -- Bannayan-Riley-Ruvalcaba Syndrome -- Beckwith-Wiedemann Syndrome -- Behcet Disease -- Biotinidase Deficiency -- Bladder Exstrophy -- Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome -- Body Stalk Anomaly -- Brachydactyly -- Branchial Cleft Anomalies -- Calcinosis Cutis -- Campomelic Dysplasia -- Carpenter Syndrome -- Cat Eye Syndrome -- Celiac Disease -- Cerebral Palsy -- Cerebro-Costo-Mandibular Syndrome -- Charcot-Marie-Tooth Disease -- CHARGE Syndrome -- Cherubism -- Chiari Malformation -- Chondrodysplasia Punctata -- Chromosome Abnormalities in Pediatric Solid Tumors -- Cleft Lip and/or Cleft Palate -- Cleidocranial Dysplasia -- Cloacal Exstrophy -- Clubfoot -- Collodion Baby -- Congenital Adrenal Hyperplasia -- Congenital Cutis Laxa -- Congenital Cytomegalovirus Infection -- Congenital Generalized Lipodystrophy -- Congenital Hemihyperplasia -- Congenital Hydrocephalus -- Congenital Hypothyroidism -- Congenital Muscular Dystrophy -- Congenital Toxoplasmosis -- Conjoined Twins -- Corpus Callosum Agenesis/Dysgenesis -- Craniometaphyseal Dysplasia -- Cri-Du-Chat Syndrome -- Crouzon Syndrome -- Cutaneous Vasculitis -- Cutis Marmorata Telangiectatica Congenita -- Cystic Fibrosis -- Dandy-Walker Malformation -- De Lange Syndrome -- Del(18p) Syndrome -- Del(22q11.2) Syndrome -- Del(Yq) Syndrome -- Diabetic Embryopathy -- Down Syndrome -- Duncan Syndrome -- Dyschondrosteosis -- Dysmelia -- Dysplasia Epiphysealis Hemimelica -- Dystonia -- Dystrophinopathies -- Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) Syndrome -- Ehlers-Danlos Syndrome -- Ellis-van Creveld Syndrome -- Enchondromatosis -- Epidermolysis Bullosa -- Epidermolytic Palmoplantar Keratoderma -- Faciogenital (Faciodigitogenital) Dysplasia -- Facioscapulohumeral Muscular Dystrophy -- Familial Adenomatous Polyposis -- Familial Hyperlysinemia -- Familial Mediterranean Fever -- Familial Patella Instability -- Familial Spastic Paraplegia -- Fanconi Anemia -- Feingold Syndrome -- Femoral Hypoplasia - Unusual Facies Syndrome -- Fetal Akinesia Deformation Sequence -- Fetal Alcohol Spectrum Disorders -- Fetal Hydantoin Syndrome -- Fibrodysplasia Ossificans Progressiva -- Fibular Hemimelia -- Finlay-Marks Syndrome -- Floppy Infant -- Fragile X Syndrome -- Fraser Syndrome -- Freeman-Sheldon Syndrome -- Friedreich Ataxia -- Frontonasal Dysplasia -- Galactosemia -- Gastroschisis -- Gaucher Disease -- Generalized Arterial Calcification of Infancy -- Genitopatellar Syndrome -- Giant Congenital Melanocytic Nevi -- Gilbert Syndrome -- Glucose-6-Phosphate Dehydrogenase Deficiency -- Glycogen Storage Disease, Type 2 -- Goldenhar Syndrome -- Gorlin Syndrome -- Greig Cephalopolysyndactyly Syndrome -- Growth Hormone Deficiency -- Hallermann-Streiff Syndrome -- Harlequin Ichthyosis -- Hemangiomas of Infancy -- Hemophilia A -- Hereditary Hearing Loss -- Hereditary -- Hemochromatosis -- Hereditary Multiple Exostoses -- Hereditary Sensory and Autonomic Neuropathies -- Herlyn-Werner-Wunderlich Syndrome -- Holoprosencephaly -- Holt-Oram Syndrome -- Huntington Disease -- Hydranencephaly -- Hydrolethalus Syndrome -- Hydrops Fetalis -- Hyper-IgE Syndrome -- Hypertrophic Cardiomyopathy (HCM) -- Hypochondroplasia -- Hypoglossia-Hypodactylia Syndrome -- Hypohidrotic Ectodermal Dysplasia -- Hypomelanosis of Ito -- Hypophosphatasia -- Hypopituitarism -- I(1p), I(1q) Syndrome -- Idic(Yq) Syndrome -- Incontinentia Pigmenti -- Infantile Myofibromatosis -- Ivemark Syndrome -- Jarcho-Levin Syndrome -- Joubert Syndrome -- Kabuki Syndrome -- Kasabach-Merritt Syndrome -- KID Syndrome -- Klinefelter Syndrome -- Klippel-Feil Syndrome -- Klippel-Trenaunay Syndrome -- Kniest Dysplasia -- Larsen Syndrome -- LEOPARD Syndrome -- Lesch-Nyhan Syndrome -- Lethal Multiple Pterygium Syndrome -- Loeys-Dietz Syndrome -- Lowe Syndrome -- Lymphangiomas and Lymphangiomatosis -- M#xf6;bius Syndrome -- Macrodactyly -- Marfan Syndrome -- McCune-Albright Syndrome -- Meckel-Gruber Syndrome -- Megalencephalic Leukoencephalopathy with Subcortical Cysts -- Menkes Disease -- Metachromatic Leukodystrophy -- Miller-Dieker Syndrome -- Mitochondrial Leber Hereditary Optic Neuropathy -- Mitochondrial Myopathy -- Mowat-Wilson Syndrome -- Mucolipidosis 2 -- Mucolipidosis 3 -- Mucopolysaccharidosis 1 (MPS 1) -- Mucopolysaccharidosis 2 -- Mucopolysaccharidosis 3 -- Mucopolysaccharidosis 4 -- Mucopolysaccharidosis 6 -- Multiple Endocrine Neoplasia Syndromes -- Multiple Epiphyseal Dysplasia -- Multiple Pterygium Syndrome -- Myotonic Dystrophy Type 1 -- Nager Acrofacial Dysostosis -- Nail-Patella Syndrome -- Nasal Obstruction in Neonates and Children -- Neonatal Herpes Simplex Infection -- Nephrogenic Diabetes Insipidus -- Netherton Syndrome -- Neu-Laxova Syndrome -- Neural Tube Defects -- Neurofibromatosis 1 -- Neurofibromatosis 2 -- Niemann-Pick Disease -- Noonan Syndrome -- Oblique Facial Cleft Syndrome -- Oligohydramnios Sequence -- Omphalocele -- Opitz Trigonocephaly (C) Syndrome -- Oral-Facial-Digital Syndrome -- Osteogenesis Imperfecta -- Osteogenesis Imperfecta Ehlers-Danlos Overlap Syndrome -- Osteopetrosis -- Osteopoikilosis -- Otopalatodigital Spectrum Disorders -- Pachyonychia Congenita -- Pallister-Killian Syndrome -- Peutz-Jeghers Syndrome -- Phenylketonuria -- Pierre Robin Sequence -- Polycystic Kidney Disease, Autosomal Dominant Type -- Polycystic Kidney Disease: Autosomal Recessive Type -- Popliteal Pterygium Syndrome -- Prader-Willi Syndrome -- Primary Microcephaly -- Progeria -- Prune Belly Syndrome -- Pseudoachondroplasia -- R(18) Syndrome -- Radioulnar Synostosis -- Retinoid Embryopathy -- Rett Syndrome -- Rickets -- Rigid Spine Syndrome -- Roberts Syndrome -- Robinow Syndrome -- Rubinstein-Taybi Syndrome -- Saethre-Chotzen Syndrome -- Sagittal Craniosynostosis Associated with Chromosome Abnormalities with a Brief Review on Craniosynostosis -- Schizencephaly Schmid Metaphyseal Chondrodysplasia -- Seckel Syndrome -- Severe Combined Immune Deficiency -- Short Rib-Polydactyly Syndromes -- Sickle Cell Disease -- Silver-Russell Syndrome -- Sirenomelia -- Smith-Lemli-Opitz Syndrome -- Smith-Magenis Syndrome -- Sotos Syndrome -- Spinal Muscular Atrophy -- Spondyloepiphyseal Dysplasia -- Stickler Syndrome -- Sturge-Webber Syndrome -- Symphalangism -- Tay-Sachs Disease -- Tetrasomy 9p Syndrome -- Thalassemia -- Thanatophoric Dysplasia -- Thrombocytopenia-Absent Radius Syndrome -- Treacher-Collins Syndrome -- Trimethylaminuria -- Triploidy -- Trismus-Pseudocamptodactyly Syndrome -- Trisomy 13 Syndrome -- Trisomy 18 Syndrome -- Trisomy 8 Mosaicism Syndrome -- Tuberous Sclerosis -- Turner Syndrome -- Twin-Twin Transfusion Syndrome -- Tyrosinemia -- Ulnar-Mammary Syndrome -- Urofacial Syndrome -- VATER (VACTERL) Association -- Von Hippel-Lindau Disease -- Waardenburg Syndrome -- Weill-Marchesani Syndrome -- Williams Syndrome -- Winchester syndrome -- Wolf-Hirschhorn Syndrome -- X-Linked Agammaglobulinemia -- X-Linked Ichthyosis -- XX Male -- XXX Syndrome -- XXXXX Syndrome -- XXXXY Syndrome -- XY Female -- XYY Syndrome.
- Format
- e-Book
- Publication Type
- Encyclopedia
- Location
- Online
Atlas of genetic diagnosis and counseling
https://libcat.nshealth.ca/en/permalink/provcat22395
Chen, Harold.
--Totowa, NJ:
Humana Press
, 2006.
- Call Number
- QZ 17 C518a 2006
- Location
- Halifax Infirmary
- Call Number
- QZ 17 C518a 2006
- Author
- Chen, Harold
- Place of Publication
- Totowa, NJ
- Publisher
- Humana Press
- Date of Publication
- 2006
- Physical Description
- 1076 p.
- ISBN
- 1588296814
- Subjects (MeSH)
- Prenatal Diagnosis
- Genetic counseling
- Genetic Diseases, Inborn - Atlases
- Format
- Book
- Location
- Halifax Infirmary
- Loan Period
- 3 weeks
Born and made : an ethnography of preimplantation genetic diagnosis
https://libcat.nshealth.ca/en/permalink/provcat52899
Franklin, Sarah.
--Princeton, NJ:
Princeton University Press
, 2006.
- Call Number
- QZ 50 F834 2006
- Location
- IWK Health Sciences Library
- Call Number
- QZ 50 F834 2006
- Author
- Franklin, Sarah
- Other Authors
- Roberts, Celia
- Place of Publication
- Princeton, NJ
- Publisher
- Princeton University Press
- Date of Publication
- 2006
- Physical Description
- 256 p.
- Series Title
- Information Series
- ISBN
- 9.78E+11
- Subjects (MeSH)
- Preimplantation Diagnosis
- Genetic Diseases, Inborn
- United Kingdom
- Format
- Book
- Location
- IWK Health Sciences Library
- Copies
- 1
- Loan Period
- 2 weeks
Congenital Cystic Lung Disease : Comprehensive Understanding of its Diagnosis and Treatment from Fetus to Childhood
https://libcat.nshealth.ca/en/permalink/provcat45480
Haruhiko Sago, Hiroomi Okuyama, Yutaka Kanamori, editors.
--Singapore:
Springer
, c2020.
- Available Online
- View e-Book
- Location
- Online
This book offers readers a comprehensive understanding of congenital cystic lung disease based on a novel classification system recently proposed by leading researchers in the field. Presented in detail here, it includes various aspects, from fetal diagnosis and treatment to postnatal diagnosis and treatment, while also taking into account endoscopic surgical treatment and pathological diagnosis. Given the depth and breadth of its coverage, Congenital Cystic Lung Disease will be of interest not…
- Available Online
- View e-Book
- Other Authors
- Sago, Haruhiko
- Okuyama, Hiroomi
- Kanamori, Yutaka
- Responsibility
- Haruhiko Sago, Hiroomi Okuyama, Yutaka Kanamori, editors
- Place of Publication
- Singapore
- Publisher
- Springer
- Date of Publication
- c2020
- Physical Description
- 1 online resource (viii, 140 p.) : 83 illus., 54 illus. in color
- ISBN
- 9789811551758
- 9789811551741 (Print ed.)
- 9789811551765 (Print ed.)
- 9789811551772 (Print ed.)
- Subjects (MeSH)
- Lung Diseases - diagnosis
- Lung Diseases - surgery
- Genetic Diseases, Inborn
- Specialty
- Pediatrics
- Pulmonary Medicine
- Abstract
- This book offers readers a comprehensive understanding of congenital cystic lung disease based on a novel classification system recently proposed by leading researchers in the field. Presented in detail here, it includes various aspects, from fetal diagnosis and treatment to postnatal diagnosis and treatment, while also taking into account endoscopic surgical treatment and pathological diagnosis. Given the depth and breadth of its coverage, Congenital Cystic Lung Disease will be of interest not only to pediatric surgeons but also to pediatric respiratory physicians, neonatologists, and obstetricians engaged in fetal diagnosis and therapy, as well as pediatric radiologists and pathologists.
- Contents
- 1. Novel Classification of Congenital Cystic Lung Disease -- 2. Epidemiology of Congenital Cystic Lung Disease: From Japan Nationwide Survey -- 3. Fetal Diagnosis and Therapy for Congenital Cystic Lung Disease -- 4. Fetal Diagnostic Imaging of Congenital Cystic Lung Disease -- 5. Perinatal Care for Severe Congenital Pulmonary Airway Malformation -- 6. Postnatal Imaging Diagnosis of Congenital Cystic Lung Disease -- 7. Perinatal Natural History and Treatment of Congenital Lung Malformations in Prenatally Diagnosed Neonates -- 8. Surgical Treatment for and Prognosis of Congenital Pulmonary Airway Malformation -- 9. Surgical Treatment for Bronchial Obstruction -- 10. Intralobar Pulmonary Sequestration -- 11. Surgical Treatment and Its Prognosis for Extra-lobar Pulmonary Sequestration Without Foregut Communication -- 12. Surgical Treatment and Its Prognosis for Extralobar Pulmonary Sequestration with Foregut Communication: Communicating Bronchopulmonary Foregut Malformation (CBPFM) -- 13. Endoscopic Surgery for Pediatric Congenital Cystic Lung Disease -- 14. Pathology of Congenital Cystic Lung Diseases -- 15. The Long-Term Outcome of Congenital Cystic Lung Disease.
- Format
- e-Book
- Location
- Online
Congenital Diseases and Syndromes : an illustrated radiological guide
https://libcat.nshealth.ca/en/permalink/provcat28584
edited by Jarrah Ali Al-Tubaikh, Maximilian F. Reiser.
--Berlin, Heidelberg:
Springer
, c2009.
- Available Online
- View e-Book
- Location
- Online
- Available Online
- View e-Book
- Author
- Al-Tubaikh, Jarrah Ali
- Other Authors
- Reiser, Maximilian F
- Responsibility
- edited by Jarrah Ali Al-Tubaikh, Maximilian F. Reiser
- Place of Publication
- Berlin, Heidelberg
- Publisher
- Springer
- Date of Publication
- c2009
- ISBN
- 9783642001604
- Subjects (MeSH)
- Congenital Abnormalities - pathology
- Congenital Abnormalities - diagnostic imaging
- Genetic Diseases, Inborn - diagnostic imaging
- Radiography
- Subjects (LCSH)
- Genetics
- Diagnostic Imaging
- Format
- e-Book
- Location
- Online
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.
- Available Online
- View e-Book
- Access
- Registration required for PDF access.
- Location
- Online
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
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
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
- View e-Book
- Access
- Registration required for PDF access.
- 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
Emery and Rimoin's principles and practice of medical genetics and genomics : clinical principles and applications
https://libcat.nshealth.ca/en/permalink/provcat50646
Pyeritz, Reed E.
(7th ed.)
--London, England:
Academic Press
, 2019.
- 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
- 2019
- ISBN
- 9780128125366
- 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
Emery and Rimoin's principles and practice of medical genetics and genomics : foundations
https://libcat.nshealth.ca/en/permalink/provcat42513
editors Reed Pyeritz, Bruce Korf, Wayne Grod.
(7th ed.)
--London, UK:
Elsevier
, c2019.
- Available Online
- View e-Book
- Access
- Registration required for PDF access.
- Location
- Online
For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice With detailed coverage in contributions from over 250 of the world’s most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome s…
- Available Online
- View e-Book
- Other Authors
- Pyeritz, Reed
- Responsibility
- editors Reed Pyeritz, Bruce Korf, Wayne Grod
- Edition
- 7th ed.
- Alternate Title
- Principles & practice of medical genetics & genomics
- Place of Publication
- London, UK
- Publisher
- Elsevier
- Date of Publication
- c2019
- Physical Description
- 1 online resource, 412 p.
- ISBN
- 9780128125373
- Subjects (MeSH)
- Genetic Counseling
- Genetic Diseases, Inborn - genetics
- Genetic Predisposition to Disease
- Genetic Techniques
- Genetics, Medical - methods
- Specialty
- Genetics, Medical
- Abstract
- For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice With detailed coverage in contributions from over 250 of the world’s most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, 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.
- Access
- Registration required for PDF access.
- Format
- e-Book
- Location
- Online
Emery and Rimoin's principles and practice of medical genetics and genomics : metabolic disorders
https://libcat.nshealth.ca/en/permalink/provcat45682
editors Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grod.
(7th ed.)
--London, UK:
Elsevier
, c2021.
- Available Online
- View e-Book
- Access
- Registration required for PDF access.
- Location
- Online
For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With detailed coverage in contributions from over 250 of the world’s most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome s…
- Available Online
- View e-Book
- Other Authors
- Pyeritz, Reed E.
- Responsibility
- editors Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grod
- Edition
- 7th ed.
- Alternate Title
- Principles & practice of medical genetics & genomics
- Metabolic disorders
- Place of Publication
- London, UK
- Publisher
- Elsevier
- Date of Publication
- c2021
- Physical Description
- 1 online resource, 572 p.
- ISBN
- 9780128125359
- Subjects (MeSH)
- Genetic Counseling
- Genetic Diseases, Inborn - genetics
- Genetic Predisposition to Disease
- Genetic Techniques
- Genetics, Medical - methods
- Specialty
- Genetics, Medical
- Abstract
- For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With detailed coverage in contributions from over 250 of the world’s most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, 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.
- Access
- Registration required for PDF access.
- Format
- e-Book
- Location
- Online
Emery's elements of medical genetics and genomics
https://libcat.nshealth.ca/en/permalink/provcat31698
Peter D. Turnpenny, Sian Ellard, Ruth Cleaver.
(16th ed.)
--Philadelphia, PA:
Elsevier
, c2022.
- Available Online
- View e-Book
- Access
- Registration required for PDF access.
- Location
- Online
Long recognized as a leading textbook in this fast-moving field, Emery's Elements of Medical Genetics and Genomics offers current, complete information with a strong basis in practical clinical genetics and genomics for medical school and beyond. The 16th Edition of this award-winning text has been thoroughly updated throughout and includes case-based and multiple-choice questions, end-of-chapter summaries, an extensive glossary, and convenient online access, making it an ideal choice for all …
- Available Online
- View e-Book
- Author
- Turnpenny, Peter D.
- Other Authors
- Ellard, Sian
- Responsibility
- Peter D. Turnpenny, Sian Ellard, Ruth Cleaver
- Edition
- 16th ed.
- Alternate Title
- Emery's elements of medical genetics & genomics
- Elements of medical genetics and genomics
- Place of Publication
- Philadelphia, PA
- Publisher
- Elsevier
- Date of Publication
- c2022
- Physical Description
- 1 online resource, 448 p.
- ISBN
- 9780702079665
- Subjects (MeSH)
- Genetic Diseases, Inborn
- Genetics, Medical
- Subjects (LCSH)
- Medical genetics
- Genetics, Medical
- Genetic Diseases, Inborn
- Specialty
- Genetics, Medical
- Abstract
- Long recognized as a leading textbook in this fast-moving field, Emery's Elements of Medical Genetics and Genomics offers current, complete information with a strong basis in practical clinical genetics and genomics for medical school and beyond. The 16th Edition of this award-winning text has been thoroughly updated throughout and includes case-based and multiple-choice questions, end-of-chapter summaries, an extensive glossary, and convenient online access, making it an ideal choice for all medical undergraduates as well as postgraduates seeking to improve their understanding and knowledge.
- Access
- Registration required for PDF access.
- Format
- e-Book
- Location
- Online
Encyclopedia of genetic disorders and birth defects, The
https://libcat.nshealth.ca/en/permalink/provcat53270
[by] James Wybrandt and Mark D. Ludman.
--New York, NY:
Facts on File
, 1991.
- Call Number
- QS 675 W92 1991 RES
- Location
- IWK Health Sciences Library
- Sub-Location
- RESERVE
- Call Number
- QS 675 W92 1991 RES
- Author
- Wybrandt, James
- Other Authors
- Ludman, Mark D.
- Responsibility
- [by] James Wybrandt and Mark D. Ludman
- Place of Publication
- New York, NY
- Publisher
- Facts on File
- Date of Publication
- 1991
- Physical Description
- 426 p. : ill.
- ISBN
- 816019266
- Subjects (MeSH)
- Congenital Abnormalities
- Genetic Diseases, Inborn
- Format
- Book
- Publication Type
- Encyclopedia
- Location
- IWK Health Sciences Library
- Sub-Location
- RESERVE
- Copies
- 1
- Loan Period
- 1 week
Encyclopedia of genetic disorders and birth defects, The
https://libcat.nshealth.ca/en/permalink/provcat53271
[by] James Wynbrandt [and] Mark D. Ludman.
(2nd ed.)
--New York, NY:
Facts on File, Inc.
, 2000.
- Call Number
- QZ 50 W92 2000 RES
- Location
- IWK Health Sciences Library
- Sub-Location
- RESERVE
- Call Number
- QZ 50 W92 2000 RES
- Author
- Wynbrandt, James
- Other Authors
- Ludman, Mark D.
- Responsibility
- [by] James Wynbrandt [and] Mark D. Ludman
- Edition
- 2nd ed.
- Place of Publication
- New York, NY
- Publisher
- Facts on File, Inc.
- Date of Publication
- 2000
- Physical Description
- 474 p.
- ISBN
- 8160
- ISSN
- 3809-0
- Subjects (MeSH)
- Genetics, Medical
- Congenital Abnormalities
- Genetic Diseases, Inborn
- Format
- Book
- Publication Type
- Encyclopedia
- Location
- IWK Health Sciences Library
- Sub-Location
- RESERVE
- Copies
- 1
- Loan Period
- 1 week
Ethical issues of human genetic databases : a challenge to classical health research ethics?
https://libcat.nshealth.ca/en/permalink/provcat50681
Elger, Bernice.
--[New York, NY]:
Routledge
, 2010.
- Available Online
- View e-Book
- Location
- Online
- Available Online
- View e-Book
- Author
- Elger, Bernice
- Other Authors
- McLean, Sheila
- Place of Publication
- [New York, NY]
- Publisher
- Routledge
- Date of Publication
- 2010
- Series Title
- Medical law and ethics
- ISBN
- 9781409404996
- Subjects (MeSH)
- Genetic Diseases, Inborn
- Ethics, Medical
- Medical Records Systems, Computerized - ethics
- Notes
- Access to this online resource is restricted to IWK Health Centre employees working from inside the hospital network.
- Format
- e-Book
- Location
- Online
Gamete and embryo-fetal origins of adult diseases
https://libcat.nshealth.ca/en/permalink/provcat33770
He-Feng Huang, Jian-Zhong Sheng, editors.
--Dordrecht:
Springer
, c2014.
- Available Online
- View e-Book
- Location
- Online
The book Gamete and Embryo-fetal Origins of Adult Diseases introduces various diseases resulting from the abnormal gametogenesis and embryo development, which manifests as growth retardation, birth defects, or increased susceptibility to chronic metabolic diseases such as diabetes, cardiovascular disease and cancer in childhood and adult life, even fertility disorders and the risk of transgenerational transmission. Six common kinds of these diseases are discussed in separate chapters. The autho…
- Available Online
- View e-Book
- Other Authors
- Huang, He-Feng
- Sheng, Jian-Zhong
- Responsibility
- He-Feng Huang, Jian-Zhong Sheng, editors
- Place of Publication
- Dordrecht
- Publisher
- Springer
- Date of Publication
- c2014
- Physical Description
- 1 online resource (ix, 222 pages)
- ISBN
- 9789400777729 (electronic bk.)
- 9789400777712
- Subjects (MeSH)
- Disease - etiology
- Embryonic Development - genetics
- Epigenesis, Genetic - genetics
- Genetic Diseases, Inborn - etiology
- Maternal Exposure - adverse effects
- Prenatal Exposure Delayed Effects
- Subjects (LCSH)
- Diseases - Causes and theories of causation
- Medical genetics
- Genetic disorders
- Disease - etiology
- Genetic Diseases, Inborn - etiology
- Genetics, Medical
- Reproductive medicine
- Pediatrics
- Human genetics
- Abstract
- The book Gamete and Embryo-fetal Origins of Adult Diseases introduces various diseases resulting from the abnormal gametogenesis and embryo development, which manifests as growth retardation, birth defects, or increased susceptibility to chronic metabolic diseases such as diabetes, cardiovascular disease and cancer in childhood and adult life, even fertility disorders and the risk of transgenerational transmission. Six common kinds of these diseases are discussed in separate chapters. The authors explore the connections between these diseases and epigenetic reprogramming, rapid cell differentiation and organ formation and environmental influences, including assisted reproductive technology and adverse intrauterine environments. With a summary of findings on the causes and progression of adult diseases at the phase of gametogenesis and embryo development, this book provides insights into the pathogenesis of disease and aids in the treatment and prevention of disease, meeting the requirement for improving the quality of the newborn population, and effectively preventing and curing major diseases at an early stage.
- Contents
- 1. Physiology of Gametogenesis -- 2. Physiology of Embryonic Development -- 3. Adverse Intrauterine Environment and Gamete/Embryo-Fetal Origins of Diseases -- 4. Gamete/Embryo-Fetal Origins of Diabetes -- 5. Gamete/Embryo-Fetal Origins of Cardiovascular Diseases -- 6. Gamete/Embryo-Fetal Origins of Tumours -- 7. Gamete/Embryo-Fetal Origins of Obesity -- 8. Gamete/Embryo-Fetal Origins of Mental Disorders -- 9. Gamete/Embryo-Fetal Origins of Infertility -- 10. Assisted Reproductive Technology and Gamete/Embryo-Fetal Origins of Diseases -- Erratum.
- Format
- e-Book
- Location
- Online
Genetic disorders & the fetus : diagnosis, prevention, and treatment
https://libcat.nshealth.ca/en/permalink/provcat53432
Milunsky, Aubrey.
(5th ed.)
--Baltimore, MD:
The Johns Hopkins University Press
, 2004.
- Call Number
- QZ 50 G3244 2004
- Location
- IWK Health Sciences Library
- Call Number
- QZ 50 G3244 2004
- Author
- Milunsky, Aubrey
- Edition
- 5th ed.
- Place of Publication
- Baltimore, MD
- Publisher
- The Johns Hopkins University Press
- Date of Publication
- 2004
- Physical Description
- 1224 p. : ill.
- ISBN
- 801879280
- Subjects (MeSH)
- Genetic Diseases, Inborn
- Prenatal Diagnosis
- Fetal Diseases - genetics
- Format
- Book
- Location
- IWK Health Sciences Library
- Copies
- 1
- Loan Period
- 2 weeks
Genetic neuromuscular disorders : a case-based approach
https://libcat.nshealth.ca/en/permalink/provcat33906
Corrado Angelini.
--Cham, Switzerland:
Springer
, c2014.
- Available Online
- View e-Book
- Location
- Online
This book describes the genetic diagnostic entities of neuromuscular disorders. Each neuromuscular syndrome is presented clinically as a case study, accompanied by text reviewing different molecular defects, DNA research and differential diagnosis. This collection of neuromuscular disorders features the different clinical phenotypes related to each genotype and are representative of the whole spectrum of a genetic muscle disorder, helping the clinician and neuromuscular physician to make a diag…
- Available Online
- View e-Book
- Author
- Angelini, C.
- Responsibility
- Corrado Angelini
- Place of Publication
- Cham, Switzerland
- Publisher
- Springer
- Date of Publication
- c2014
- Physical Description
- 1 online resource (xxi, 384 pages)
- ISBN
- 9783319075006 (electronic bk.)
- 9783319074993
- Subjects (MeSH)
- Genetic Diseases, Inborn - Case Reports
- Neuromuscular Diseases - genetics - Case Reports
- Subjects (LCSH)
- Neuromuscular diseases - Genetic aspects - Case studies
- Neurology
- Abstract
- This book describes the genetic diagnostic entities of neuromuscular disorders. Each neuromuscular syndrome is presented clinically as a case study, accompanied by text reviewing different molecular defects, DNA research and differential diagnosis. This collection of neuromuscular disorders features the different clinical phenotypes related to each genotype and are representative of the whole spectrum of a genetic muscle disorder, helping the clinician and neuromuscular physician to make a diagnosis. Key points for each genetic disease are identified to suggest treatment, when available, or the main clinical exams useful in follow-up of patients. Genetic Neuromuscular Disorders: A Case-Based Approach is aimed at neuromuscular physicians and neurology residents.
- Contents
- Part I. Muscular Dystrophies -- Duchenne Muscular Dystrophy -- Duchenne Muscular Dystrophy Carrier -- Becker Muscular Dystrophy -- Emery-Dreifuss Muscular Dystrophy type 1 -- Emery-Dreifuss Muscular Dystrophy type 2 -- Limb Girdle Muscular Dystrophy type 1B -- Limb Girdle Muscular Dystrophy type 1C -- Limb Girdle Muscular Dystrophy type 1F -- Limb Girdle Muscular Dystrophy type 2A -- Limb Girdle Muscular Dystrophy type 2B -- Limb Girdle Muscular Dystrophy type 2C -- Limb Girdle Muscular Dystrophy type 2D -- Limb Girdle Muscular Dystrophy type 2E -- Limb Girdle Muscular Dystrophy type 2F -- Limb Girdle Muscular Dystrophy type 2I -- Limb Girdle Muscular Dystrophy type 2K -- Limb Girdle Muscular Dystrophy type 2N -- Congenital Muscular Dystrophy type 1A -- Congenital Muscular Dystrophy type 1C -- Congenital Muscular Dystrophy with rigid spine -- Congenital Muscular Dystrophy with integrin-alpha-7 deficiency -- Congenital Muscular Dystrophy, Ullrich type -- Bethlem myopathy -- Facio Scapulo Humeral Muscular Dystrophy type 1A -- Facio Scapulo Humeral Muscular Dystrophy type 2 -- Section 2: Congenital Myopathies -- Congenital Multi-Mini-Core Myopathy -- Congenital Central-Core Myopathy with Malignant Hyperthermia -- Congenital Centronuclear Myopathy type 1 -- Congenital Hyaline Body Myopathy -- Congenital Myotubular Myopathy -- Congenital Nemaline Myopathy type 2 -- Congenital Fiber Type Disproportion type 1 -- Congenital Fiber Type Disproportion -- Congenital Myofibrillar Myopathy type 1 -- Congenital Myofibrillar Myopathy type 6 -- Congenital Tubular Aggregate Myopathy -- Hereditary Inclusion Body Myopathy type 2 -- Section 3: Ion Channel Disorders -- Myotonic Dystrophy type 1, Steinert Disease -- Congenital Myotonic Dystrophy -- Myotonic Dystrophy type 2, Proximal Myotonic Myopathy -- Congenital Myotonia, Thomsen Disease -- Hyperkalemic Periodic Paralysis -- Hypokalemic Periodic Paralysis type 1 -- Slow-channel Congenital Myasthenic Syndrome -- Congenital Myasthenic Syndrome -- Brody Disease -- Section 4: Metabolic Myopathies -- Glycogenosis type 2, Pompe Disease -- Glycogenosis type 3, Cori-Forbes Disease -- Glycogenosis type 5, McArdle Disease -- Danon Disease -- Kearns-Sayre Syndrome -- Chronic Progressive External Ophthalmoplegia -- MELAS (Myopathy, Encephalopathy, Lactic Acidosis, Stroke-like) -- Leigh Syndrome due to COX Deficiency -- Mitochondrial Encephalopathy with COX Deficiency -- Coenzyme Q10 Deficiency -- Multiple Symmetrical Lipomatosis -- NARP (Neuropathy, Ataxia, Retinitis Pigmentosa) -- SANDO (Sensory Ataxic Neuropathy, Dysarthria, Ophthalmoparesis) -- Systemic Primary Carnitine Deficiency -- Neutral Lipid Storage Disease with Ichthyosis -- Neutral Lipid Storage Disease with Myopathy -- Multiple Acyl-CoA Dehydrogenase Deficiency -- Carnitine-Palmitoyl-Transferase-II Deficiency -- Niemann-Pick Disease type C1 -- Section 5: Neurogenic Disorders -- Spinal Muscular Atrophy type 1, Werdnig-Hoffmann Disease -- Spinal Muscular Atrophy type 2 -- Spinal Muscular Atrophy type 3, Kugelberg-Welander Disease -- Spinal Bulbar Muscular Atrophy, Kennedy Disease -- Charcot-Marie-Tooth Disease type 1A -- Charcot-Marie-Tooth Disease type 1B -- Charcot-Marie-Tooth Disease neuronal type -- Charcot-Marie-Tooth Disease type 4A -- Charcot-Marie-Tooth Disease with pyramidal features -- Charcot-Marie-Tooth Disease type X1 -- Distal Spinal Muscular Atrophy -- Hereditary Neuropathy with Pressure Palsies -- Friedreich Ataxia -- Spastic Ataxia, Charlevoix-Saguenay type -- Ataxia-Telangiectasia, Louis-Bar Syndrome -- Spastic Paraparesis type 4 -- Spastic Paraparesis type 7 -- Optic Atrophy Plus Syndrome -- Amyotrophic Lateral Sclerosis type 1 -- Amyotrophic Lateral Sclerosis.
- Format
- e-Book
- Location
- Online
Genetic Neuromuscular Disorders : A Case-Based Approach
https://libcat.nshealth.ca/en/permalink/provcat42797
Corrado Angelini.
(Second edition)
--Cham:
Springer
, c2018.
- Available Online
- View e-Book
- Location
- Online
This updated and expanded new edition of a successful book describes genetic diagnostic entities of neuromuscular disorders. Neuromuscular syndromes are presented clinically either as a case study or as an overview from the literature, accompanied by text presenting molecular defects, and differential diagnosis. This collection of neuromuscular disorders features the differential clinical phenotypes related to each genotype and are representative of the whole spectrum of a genetic muscle disord…
- Available Online
- View e-Book
- Author
- Angelini, Corrado
- Responsibility
- Corrado Angelini
- Edition
- Second edition
- Place of Publication
- Cham
- Publisher
- Springer
- Date of Publication
- c2018
- Physical Description
- 1 online resource (xi, 433 p.) : 77 illus., 72 illus. in color
- ISBN
- 9783319564548
- 9783319564531 (print ed.)
- 9783319564555 (print ed.)
- Subjects (MeSH)
- Genetic Diseases, Inborn
- Neuromuscular Diseases - genetics
- Specialty
- Genetics, Medical
- Neurology
- Abstract
- This updated and expanded new edition of a successful book describes genetic diagnostic entities of neuromuscular disorders. Neuromuscular syndromes are presented clinically either as a case study or as an overview from the literature, accompanied by text presenting molecular defects, and differential diagnosis. This collection of neuromuscular disorders features the differential clinical phenotypes related to each genotype and are representative of the whole spectrum of a genetic muscle disorder, helping the clinician and neuromuscular physician to make a diagnosis. Key points for each genetic disease are identified to suggest treatment, when available, or the main clinical exams useful in follow-up of patients. Genetic Neuromuscular Disorders: A Case-Based Approach is aimed at neuromuscular physicians and neurology residents.
- Contents
- Part I. Muscular Dystrophies -- Part II. Congenital Myopathies -- Part III. Ion Channel Disorders -- Part IV. Metabolic Myopathies -- Part V. Neurogenic Disorders.
- Format
- e-Book
- Publication Type
- Case Reports
- Location
- Online
