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Atlas of Genetic Diagnosis and Counseling

https://libcat.nshealth.ca/en/permalink/provcat30009
by Harold Chen. --Totowa, NJ: Humana Press , c2006.
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Location
Online
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Author
Chen, Harold
Responsibility
by Harold Chen
Place of Publication
Totowa, NJ
Publisher
Humana Press
Date of Publication
c2006
ISBN
9781603271615
Subjects (MeSH)
Genetic counseling
Genetic Diseases, Inborn - Encyclopedias
Prenatal Diagnosis
Subjects (LCSH)
Genetics
Reproductive medicine
Format
e-Book
Location
Online
Less detail

Atlas of Genetic Diagnosis and Counseling

https://libcat.nshealth.ca/en/permalink/provcat41222
Harold Chen. (Third edition) --New York, NY: Springer , 2017.
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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…
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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
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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
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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
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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.
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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…
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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
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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.
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Location
Online
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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
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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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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…
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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
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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/provcat50645
Pyeritz, Reed E. (7th ed.) --London, England: Academic Press , 2020.
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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
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
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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.
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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.
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Registration required for PDF access.
Format
e-Book
Location
Online
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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.
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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
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
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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.
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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
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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.
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Access
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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.
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e-Book
Location
Online
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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.
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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 …
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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.
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Format
e-Book
Location
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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
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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
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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
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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
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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
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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
Less detail

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
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