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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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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/provcat30009
by Harold Chen. --Totowa, NJ: Humana Press , c2006.
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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
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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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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.
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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/provcat47669
Pyeritz, Reed E. (7th ed.) --London, England: Academic Press , 2020.
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Location
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
Physical Description
e-Book
ISBN
9.78E+12
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…
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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
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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/provcat47670
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
Physical Description
e-Book
ISBN
9.78E+12
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.
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Location
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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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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
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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.
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Location
Online
Available Online
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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
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Format
e-Book
Location
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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.
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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…
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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
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Fetal Morph Functional Diagnosis

https://libcat.nshealth.ca/en/permalink/provcat46487
Hideaki Masuzaki, editor. --Singapore: Springer , c2021.
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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…
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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.
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NEW Springer 2021
Format
e-Book
Location
Online
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Genetic counselling : a psychological conversation

https://libcat.nshealth.ca/en/permalink/provcat27248
Christine Evans, Barbara Bowles Biesecker. --Cambridge, UK: Cambridge University Press , 2006.
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Location
Online
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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
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Guide for Genetic Consultation

https://libcat.nshealth.ca/en/permalink/provcat44186
Birgit Zirn, Karl Mehnert, eds. --Cham: Springer , 2019.
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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…
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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
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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.
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Location
Online
Available Online
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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
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Medical genetics

https://libcat.nshealth.ca/en/permalink/provcat35054
Lynn B. Jorde, John C. Carey, Michael J. Bamshad. (6th ed.) --Philadelphia, PA: Elsevier , c2020.
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Access
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Location
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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
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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
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Medical genetics

https://libcat.nshealth.ca/en/permalink/provcat47939
Jorde, Lynn. (6th ed.) --Philadelphia, PA: Elsevier , 2020.
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Location
Online
Available Online
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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
Physical Description
e-Book
ISBN
9.78E+12
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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Neurogenetic developmental disorders : variation of manifestation in childhood

https://libcat.nshealth.ca/en/permalink/provcat49528
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
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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.
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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
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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
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Perinatal genetics

https://libcat.nshealth.ca/en/permalink/provcat48138
Norton, Mary E. --St. Louis, MO: Elsevier , 2019.
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Location
Online
Available Online
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Author
Norton, Mary E.
Other Authors
Kuller, Jeffrey A.
Dugoff, Lorraine
Place of Publication
St. Louis, MO
Publisher
Elsevier
Date of Publication
2019
Physical Description
e-Book
ISBN
9.78E+12
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
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