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
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 and Rimoin's principles and practice of medical genetics and genomics : perinatal and reproductive genetics
https://libcat.nshealth.ca/en/permalink/provcat47220
edited by Reed E. Pyeritz.
(7th ed.)
--London, UK:
Elsevier
, c2022.
- Available Online
- View e-Book
- Access
- Registration required for PDF access.
- Location
- Online
- Available Online
- View e-Book
- Other Authors
- Pyeritz, Reed E.
- Responsibility
- edited by Reed E. Pyeritz
- Edition
- 7th ed.
- Alternate Title
- Principles & practice of medical genetics & genomics
- Place of Publication
- London, UK
- Publisher
- Elsevier
- Date of Publication
- c2022
- Physical Description
- 1 online resource, 318 p.
- ISBN
- 9780128152362
- Subjects (MeSH)
- Genetic Counseling
- Perinatology
- Specialty
- Genetics, Medical
- Access
- Registration required for PDF access.
- Format
- e-Book
- Location
- Online
Facilitating the Genetic Counseling Process : Practice-Based Skills
https://libcat.nshealth.ca/en/permalink/provcat42907
Patricia McCarthy Veach, Bonnie S. LeRoy, Nancy P. Callanan.
(Second edition)
--Cham:
Springer
, c2018.
- Available Online
- View e-Book
- Location
- Online
Now in its revised and updated second edition, this text provides a practical way of teaching genetic counseling helping skills. The contents can be used by genetic counselor educators and supervisors to facilitate student professional development, including gaining knowledge about basic helping skills; practicing using the skills specific to genetic counseling services; and understanding one's self as a professional in training. New topics include: the Reciprocal-Engagement Model (REM) of gene…
- Available Online
- View e-Book
- Author
- McCarthy Veach, Patricia
- Other Authors
- LeRoy, Bonnie S.
- Callanan, Nancy P.
- Responsibility
- Patricia McCarthy Veach, Bonnie S. LeRoy, Nancy P. Callanan
- Edition
- Second edition
- Place of Publication
- Cham
- Publisher
- Springer
- Date of Publication
- c2018
- Physical Description
- 1 online resource (xx, 404 p.) : 2 illus., 1 illus. in color
- ISBN
- 9783319747996
- 9783319747989 (print ed.)
- 9783319748009 (print ed.)
- Subjects (MeSH)
- Genetic Counseling
- Specialty
- Reproductive Medicine
- Abstract
- Now in its revised and updated second edition, this text provides a practical way of teaching genetic counseling helping skills. The contents can be used by genetic counselor educators and supervisors to facilitate student professional development, including gaining knowledge about basic helping skills; practicing using the skills specific to genetic counseling services; and understanding one's self as a professional in training. New topics include: the Reciprocal-Engagement Model (REM) of genetic counseling practice; research findings about genetic counselor professional development, values, compassion fatigue, burnout, and distress; expanded discussion of patient factors; and more attention to cultural issues. Every chapter contains updated literature, and both revised and new structured activities and written exercises. Salient features of this second edition include: An "active" and "cooperative" pedagogical approach, with numerous structured activities and exercises emphasizing student self-reflection and engagement with core content. Inclusion of skills which comprise key elements within three competency domains for accreditation of genetic counseling training programs in North America: genetics expertise and analysis; interpersonal, psychosocial, and counseling skills and assessment; and professional development and practice. Content grounded in a widely-cited, empirically-derived model of genetic counseling practice. Inclusion of patient scenarios and roles for skills practice based on genetic counseling cases and reflecting recent developments in genetic knowledge, testing, and technologies.
- Contents
- Guidelines for Book Users: Instructors, Supervisors, and Students -- Overview of Genetic Counseling: History of the Profession and the Reciprocal Model of Practice -- Listening to Patients: Attending Skills -- Listening to Patients: Primary Empathy Skills -- Gathering Information: Asking Questions -- Structuring Genetic Counseling Sessions: Initiating, Contracting, Ending, and Referral -- Collaborating with Patients: Providing Information and Facilitating PatientáDecision Making -- Responding to Patient Cues: Advanced Empathy and Confrontation Skills -- Patient Factors: Resistance, Coping, Affect, and Styles -- Providing Guidance: Advice and Influencing Skills -- Counselor Self-Reference: Self-Disclosure and Self-Involving Skills -- Genetic Counseling Dynamics: Transference, Countertransference, Distress, Burnout, and Compassion Fatigue -- Professionalism: Ethically-Based Reflective Practice -- Appendix A: ACGC (2015) Practice-Based Competencies -- Appendix B: NSGC Code of Ethics (2017).
- Format
- e-Book
- Location
- Online
Fetal Morph Functional Diagnosis
https://libcat.nshealth.ca/en/permalink/provcat46487
Hideaki Masuzaki, editor.
--Singapore:
Springer
, c2021.
- Available Online
- View e-Book
- Access
- NEW Springer 2021
- Location
- Online
This book explores the recent clinical and research findings in the field of prenatal screening and diagnosis. It presents new devices and tests such as real-time 3D ultrasound, ultrafast fetal MRI, and next-generation sequencing and discusses genetic counseling and fetal therapy. Written by pioneering scientists, the book is divided into six themed parts: ultrasound examination, genetic tests, genetic disorders, chromosomal diseases, genetic counseling, and techniques, presenting carefully pre…
- Available Online
- View e-Book
- Other Authors
- Masuzaki, Hideaki
- Responsibility
- Hideaki Masuzaki, editor
- Place of Publication
- Singapore
- Publisher
- Springer
- Date of Publication
- c2021
- Physical Description
- 1 online resource (ix, 354 p.) : 108 illus., 60 illus. in color
- Series Title
- Comprehensive gynecology and obstetrics
- ISBN
- 9789811581717
- 9789811581700 (Print ed.)
- 9789811581724 (Print ed.)
- 9789811581731 (Print ed.)
- ISSN
- 2364-1932
- Subjects (MeSH)
- Chromosome Disorders
- Fetus - abnormalities
- Genetic Counseling
- Prenatal Diagnosis - methods
- Specialty
- Embryology
- Reproductive Medicine
- Abstract
- This book explores the recent clinical and research findings in the field of prenatal screening and diagnosis. It presents new devices and tests such as real-time 3D ultrasound, ultrafast fetal MRI, and next-generation sequencing and discusses genetic counseling and fetal therapy. Written by pioneering scientists, the book is divided into six themed parts: ultrasound examination, genetic tests, genetic disorders, chromosomal diseases, genetic counseling, and techniques, presenting carefully prepared original data.This thought-provoking, instructive and informative book is intended for geneticists, obstetricians, pediatricians, genetic counselors and nurses. Although the incidence of congenital abnormalities such as structural, chromosomal and genetic disorders is very low, it is important to have accurate information on their incidence and likely outcome, and on the screening and diagnosis of congenital abnormalities during pregnancy care. This book provides valuable insights into prenatal screening, genetic counseling and fetal diagnosis.
- Contents
- Part I. Ultrasound Examination -- 1. Ultrasonic Screening -- 2. Abnormal Findings in Ultrasound Examination -- 3. Fetal MRI -- Part II. Genetic Tests -- 4. Prenatal Screening for Fetal Aneuploidy -- 5. Diagnostic Tests (Invasive Procedures) -- Part III. Genetic Disorders -- 6. Mendelian Disease -- 7. Neuroimaging and Genetics in Brain Maldevelopment -- 8. Muscular Dystrophy -- 9. Skeletal Dysplasia 10. Genitourinary Tract Abnormalities -- 11. Genomic Imprinting Disorders (Including Mesenchymal Placental Dysplasia) -- 12. Genetics in Multiple Gestation -- 13. Fetal Therapy -- Part IV. Chromosomal Diseases -- 14. General Remarks About Autosomal Diseases -- 15. Sex Chromosome-Linked Diseases -- Part V. Genetic Counseling -- 16. Fetal Anomaly and Genetic Counseling -- 17. Soft Marker Test (NT, Nasal Bone, Etc.) and Genetic Counseling -- 18. Noninvasive Prenatal Testing and Genetic Counseling -- 19. Trisomy and Genetic Counseling -- 20. Sex Chromosome Abnormalities and Genetic Counseling -- 21. Genetic Counseling: Chromosomal Structural Rearrangements -- 22. Gene Disorders and Genetic Counseling -- Part VI. Technical -- 23. G-Banding: Fetal Chromosome Analysis by Using Chromosome Banding Techniques -- 24. FISH -- 25. Polymerase Chain Reaction (PCR) -- 26. Microarray and Next Generation Sequencing -- 27. How to Obtain Certifications and Licenses for Prenatal Diagnosis.
- Access
- NEW Springer 2021
- Format
- e-Book
- Location
- Online
Genetic counselling : a psychological conversation
https://libcat.nshealth.ca/en/permalink/provcat27248
Christine Evans, Barbara Bowles Biesecker.
--Cambridge, UK:
Cambridge University Press
, 2006.
- Available Online
- View e-Book
- Location
- Online
- Available Online
- View e-Book
- Author
- Evans, Christine
- Other Authors
- Biesecker, Barbara Bowles
- Responsibility
- Christine Evans, Barbara Bowles Biesecker
- Place of Publication
- Cambridge, UK
- Publisher
- Cambridge University Press
- Date of Publication
- 2006
- Physical Description
- xx, 204 p.
- ISBN
- 661043719X (electronic bk.)
- Subjects (MeSH)
- Genetic counseling
- Contents
- Cover -- Contents -- Acknowledgements -- Foreword -- Peter Harper, -- Annie Procter -- Jeremy Holmes -- Barbara Bowles Biesecker -- 1 An overview of genetic counselling -- The context -- The nature of genetic counselling -- The component parts of a genetic consultation -- 1. Exploring and clarifying the nature of the request and motivation for a consultation -- 2. Building up a family tree -- 3. Eliciting the individual's understanding of the disorder -- 4. Giving factual information -- 5. Discussing psychological profile -- The range of genetic counselling -- The function of the consultation -- Summary points -- 2 The psychological processes underlying genetic counselling -- Uncertainty and the effects of knowledge -- Extract -- The concept of psychological stress in genetic counselling -- The threat -- Loss -- Frustration -- Individual perception of the stress of genetic counselling -- Coping -- Different coping responses -- Extract -- Processing grief -- Other emotions frequently experienced in genetic counselling -- Summary points -- 3 Understanding individual difference in genetic counselling using attachment theory -- Attachment theory -- Secure base and individual behaviour -- Regulation of emotions -- Narrative competence -- Self-reflection and thinking processes -- Internal working models -- Application of attachment theory to genetic counselling -- 1. The importance of early attachment pattern and the effect of an early disruption being exposed in genetic counselling -- 2. Absence has meaning -- Summary points -- 4 The role and skills of the counsellor and ideas from psychotherapy -- The role of the counsellor -- Principles from psychotherapy -- The structure of the interview -- The elements of a therapeutic professional relationship -- Extract -- Extract -- Communicative competence and listening skills of integrating meaning -- The use of metaphor -- Summary points -- 5 Examples of the role and skills of the counsellor -- Working with anxiety and grief -- Working with anxiety and a changing state of mind -- Extract -- Entering the fear -- Working with unresolved grief to facilitate thinking -- Working with coping defences -- Describing and naming the process -- Understanding and naming the process -- Supporting attempts to cope -- Triggering coping in the face of hopelessness -- Working with attachment patterns and defences -- 1. The use of explanations and explorations -- 2. The use of empathy -- 3. Commenting on the interactional dynamic and declaring a personal difficulty -- 6 The gene and the family system -- Thinking systemically -- Characteristics of a system, the family system, subsystems and the consultation system -- Thinking systemically with an individual -- The attachment dynamic and systemic thinking -- Family themes and stresses and the idea of the gene as another element -- Family roles and scripts and preselection -- The family tree -- Family communication -- Who attends the consultation? -- The tasks of the counsellor when working with a family -- Attachment and detachment in family development and autonomy and
- Format
- e-Book
- Location
- Online
Guide for Genetic Consultation
https://libcat.nshealth.ca/en/permalink/provcat44186
Birgit Zirn, Karl Mehnert, eds.
--Cham:
Springer
, 2019.
- Available Online
- View e-Book
- Location
- Online
Supported by figures, tables and photos, this book illustrates the basics of genetic diagnostics, prenatal and reproductive medicine, syndromology and familial cancers. It also includes numerous illustrated examples of the most frequent genetic diseases, making it a valuable resource in genetic counselling. This book is an essential tool for genetic counsellors, paediatricians, gynaecologists and all healthcare professionals who explain genetic issues to their patients. Useful also for teaching…
- Available Online
- View e-Book
- Other Authors
- Zirn, Birgit
- Mehnert, Karl
- Responsibility
- Birgit Zirn, Karl Mehnert, eds.
- Place of Publication
- Cham
- Publisher
- Springer
- Date of Publication
- 2019
- Physical Description
- 1 online resource (v, 187 p.) : 97 illus., 87 illus. in color
- ISBN
- 9783030043452
- 9783030043445 (Print ed.)
- 9783030043469 (Print ed.)
- Subjects (MeSH)
- Genetic Counseling
- Genetic Diseases, Inborn
- Specialty
- Genetics, Medical
- Reproductive Medicine
- Abstract
- Supported by figures, tables and photos, this book illustrates the basics of genetic diagnostics, prenatal and reproductive medicine, syndromology and familial cancers. It also includes numerous illustrated examples of the most frequent genetic diseases, making it a valuable resource in genetic counselling. This book is an essential tool for genetic counsellors, paediatricians, gynaecologists and all healthcare professionals who explain genetic issues to their patients. Useful also for teaching students.
- Contents
- A. Basic Principles -- 1. Chromosomes, genes and proteins -- 2. Chromosome analysis -- 3. FISH -- 4. Array CGH -- 5. Gene analysis --- 6. Sequencing: Sanger and NGS -- B. Cytogenetics -- 7. Female karyotype (46,XX) -- 8. Male karyotype (46,XY) -- 9. Gamete formation and nondisjunction -- 10. Trisomy 21 (Down syndrome) -- 11. Trisomy 13/18 -- 12. Klinefelter syndrome -- 13. Turner syndrome -- 14. Triple X syndrome -- 15. Triploidy -- 16. Reciprocal translocation -- 17. Robertsonian translocation -- C. Prenatal Diagnostics -- 18. Background risk -- 19. Maternal age risk -- 20. Chorionic villus sampling (CVS) -- 21. Amniocentesis (AC) -- 22. Noninvasive prenatal testing (NIPT) -- 23. Chromosome abnormalities: pregnancy and birth (iceberg) -- D. Inheritance Patterns -- 24. Autosomal dominant inheritance -- 25. Autosomal recessive inheritance -- 26. X-linked inheritance -- 27. Mitochondrial inheritance -- 28. Germline mosaicism -- E. Reproduction -- 29. Recurrent pregnancy loss -- 30. Pregnancy: ovulation to implantation -- 31. IVF and ICSI -- 32. Polar body diagnosis and preimplantation diagnosis -- 33. Consanguineous marriage -- F. Cancer -- 34. How does cancer develop? -- 35. Bowel cancer -- 36. Breast and ovarian cancer -- G. Common Disorders -- 37. Developmental disorders -- 38. Fragile X syndrome -- 39. Prader-Willi syndrome -- 40. Angelman syndrome -- 41. Noonan syndrome -- 42. Microdeletion syndrome 22q11 -- 43. Neurofibromatosis -- 44. Marfan syndrome -- 45. Cystic fibrosis -- 46. Metabolic disorders -- 47. Myotonic dystrophy type 1 -- 48. Huntington disease -- 49. Haemophilia -- 50. Thrombophilia.
- Format
- e-Book
- Publication Type
- Handbook
- Location
- Online
Hereditary Colorectal Cancer
https://libcat.nshealth.ca/en/permalink/provcat28431
edited by Miguel A. Rodriguez-Bigas, Raul Cutait, Patrick M. Lynch, Ian Tomlinson, Hans F.A. Vasen.
--Boston, MA:
Springer Science+Business Media
, c2010.
- Available Online
- View e-Book
- Location
- Online
- Available Online
- View e-Book
- Author
- Rodriguez-Bigas, Miguel A
- Other Authors
- Cutait, Raul
- Lynch, Patrick M
- Tomlinson, Ian
- Vasen, Hans F.A
- Responsibility
- edited by Miguel A. Rodriguez-Bigas, Raul Cutait, Patrick M. Lynch, Ian Tomlinson, Hans F.A. Vasen
- Place of Publication
- Boston, MA
- Publisher
- Springer Science+Business Media
- Date of Publication
- c2010
- Series Title
- M.D. Anderson Solid Tumor Oncology Series
- ISBN
- 9781441966032
- Subjects (MeSH)
- Colorectal Neoplasms - genetics
- Adenomatous Polyposis Coli
- Colorectal Neoplasms, Hereditary Nonpolyposis
- Genetic counseling
- Genetic predisposition to disease
- Subjects (LCSH)
- Colorectal diseases
- Genetics
- Oncology
- Cancer - Surgery
- Format
- e-Book
- Location
- Online
Medical genetics
https://libcat.nshealth.ca/en/permalink/provcat35054
Lynn B. Jorde, John C. Carey, Michael J. Bamshad.
(6th ed.)
--Philadelphia, PA:
Elsevier
, c2020.
- Available Online
- View e-Book
- Access
- Registration required for PDF access.
- Location
- Online
Up to date and extensively revised to reflect recent advances in the genetics of common diseases, as well as current progress in gene therapy, Medical Genetics, 6th Edition, delivers easy-to-read, highly visual coverage of this rapidly changing field. This accessible, practical text integrates key concepts with clinical practice, highlighted by numerous illustrations, tables, concept summaries, and more - all designed to enhance effective learning and retention of complex material.
- Available Online
- View e-Book
- Author
- Jorde, Lynn B
- Responsibility
- Lynn B. Jorde, John C. Carey, Michael J. Bamshad
- Edition
- 6th ed.
- Place of Publication
- Philadelphia, PA
- Publisher
- Elsevier
- Date of Publication
- c2020
- Physical Description
- 1 online resource, 352 p.
- ISBN
- 9780323597371
- Subjects (MeSH)
- Genetic Counseling
- Genetic Diseases, Inborn - genetics
- Genetic Predisposition to Disease
- Genetic Techniques
- Genetics, Medical - methods
- Specialty
- Genetics, Medical
- Abstract
- Up to date and extensively revised to reflect recent advances in the genetics of common diseases, as well as current progress in gene therapy, Medical Genetics, 6th Edition, delivers easy-to-read, highly visual coverage of this rapidly changing field. This accessible, practical text integrates key concepts with clinical practice, highlighted by numerous illustrations, tables, concept summaries, and more - all designed to enhance effective learning and retention of complex material.
- Access
- Registration required for PDF access.
- Format
- e-Book
- Location
- Online
Medical genetics
https://libcat.nshealth.ca/en/permalink/provcat50913
Jorde, Lynn.
(6th ed.)
--Philadelphia, PA:
Elsevier
, 2020.
- Available Online
- View e-Book
- Location
- Online
- Available Online
- View e-Book
- Author
- Jorde, Lynn
- Other Authors
- Carey, John C.
- Bamshad, Michael J.
- Edition
- 6th ed.
- Place of Publication
- Philadelphia, PA
- Publisher
- Elsevier
- Date of Publication
- 2020
- ISBN
- 9780323597371
- 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
Neurogenetic developmental disorders : variation of manifestation in childhood
https://libcat.nshealth.ca/en/permalink/provcat53891
Mazzocco, Michele M. M.
--Cambridge, MA:
MIT Press
, 2007.
- Call Number
- WS 200 N494 2007
- Location
- IWK Health Sciences Library
- Call Number
- WS 200 N494 2007
- Author
- Mazzocco, Michele M. M.
- Other Authors
- Ross, Judith L.
- Place of Publication
- Cambridge, MA
- Publisher
- MIT Press
- Date of Publication
- 2007
- Physical Description
- 507 p.
- Series Title
- Issues in clinical and cognitive neuropsychology
- ISBN
- 9.78E+12
- Subjects (MeSH)
- Genetic Diseases, Inborn - diagnosis
- Genetic Counseling - methods
- Heredodegenerative Disorders, Nervous System - diagnosis
- Sex chromosome Disorders - diagnosis
- Child
- Format
- Book
- Location
- IWK Health Sciences Library
- Copies
- 1
- Loan Period
- 2 weeks
Perinatal genetics
https://libcat.nshealth.ca/en/permalink/provcat43758
edited by Mary E. Norton, Jeffrey A. Kuller, and Lorraine Dugoff.
(1rst ed.)
--Philadelphia, PA:
Elsevier
, c2019.
- Available Online
- View e-Book
- Access
- Registration required for PDF access.
- Location
- Online
Get a quick, expert overview of the fast-changing field of perinatal genetics with this concise, practical resource. Drs. Mary Norton, Jeffrey A. Kuller, and Lorraine Dugoff fully cover the clinically relevant topics that are key to providers who care for pregnant women and couples contemplating pregnancy.
- Available Online
- View e-Book
- Other Authors
- Norton, Mary E.
- Responsibility
- edited by Mary E. Norton, Jeffrey A. Kuller, and Lorraine Dugoff
- Edition
- 1rst ed.
- Place of Publication
- Philadelphia, PA
- Publisher
- Elsevier
- Date of Publication
- c2019
- Physical Description
- 1 online resource (206 p.)
- ISBN
- 9780323530941
- Subjects (MeSH)
- Genetic Counseling
- Prenatal Diagnosis
- Specialty
- Genetics, Medical
- Perinatology
- Abstract
- Get a quick, expert overview of the fast-changing field of perinatal genetics with this concise, practical resource. Drs. Mary Norton, Jeffrey A. Kuller, and Lorraine Dugoff fully cover the clinically relevant topics that are key to providers who care for pregnant women and couples contemplating pregnancy.
- Access
- Registration required for PDF access.
- Format
- e-Book
- Location
- Online
Perinatal genetics
https://libcat.nshealth.ca/en/permalink/provcat51112
Norton, Mary E.
--St. Louis, MO:
Elsevier
, 2019.
- Available Online
- View e-Book
- Location
- Online
- Available Online
- View e-Book
- Author
- Norton, Mary E.
- Other Authors
- Kuller, Jeffrey A.
- Dugoff, Lorraine
- Place of Publication
- St. Louis, MO
- Publisher
- Elsevier
- Date of Publication
- 2019
- ISBN
- 9780323530941
- Subjects (MeSH)
- Genetic Counseling, Prenatal
- Infant, Newborn
- Notes
- Access to this online resource is restricted to IWK Health Centre employees working from inside the hospital network.
- Format
- e-Book
- Location
- Online
