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http://www.angelman.org/

Angelman Syndrome Foundation, Inc. Westmont, IL: Angelman Syndrome Foundation, Inc. (Online)
Audience
Patient or Public
Agency
BC Children's and Women's
Information for families and professionals who want to know more about Angelman Syndrome. Some information is also available in Spanish and Hebrew.
Title
Angelman Syndrome
Corporate Author
Angelman Syndrome Foundation, Inc.
Place
Westmont, IL
Publisher
Angelman Syndrome Foundation, Inc.
Topics
Angelman Syndrome
Genetic Disorders
Abstract
Information for families and professionals who want to know more about Angelman Syndrome. Some information is also available in Spanish and Hebrew.
Material Type
Online
Agency
BC Children's and Women's
URL
http://www.angelman.org/
Audience
Patient or Public

Behavioural phenotypes: Clinics in developmental medicine No. 138

https://libraries.phsa.ca/permalink/catalog106710
O'Brien, Gregory, Yule, William. London, UK: Mac Keith Press , 1995. (Serial) — 1 copy, 1 available
Agency
BC Children's and Women's
Location
Sunny Hill Education Resource Centre
Contents: Why behavioural phenotypes?; The new genetics; Methodological issues in behavioural phenotypes research; Measurement of behaviour; Lessons from fragile X syndrome; Pathways from genotype to phenotype; Psychological and behavioural phenotypes in genetically determined syndromes: A review o…
Title
Behavioural phenotypes: Clinics in developmental medicine No. 138
Author
O'Brien, Gregory
Yule, William
Place
London, UK
Publisher
Mac Keith Press
Year Published
1995
Physical Description
Hardcover: 211 pages
Topics
Genetics
Genetic Disorders
Abstract
Contents: Why behavioural phenotypes?; The new genetics; Methodological issues in behavioural phenotypes research; Measurement of behaviour; Lessons from fragile X syndrome; Pathways from genotype to phenotype; Psychological and behavioural phenotypes in genetically determined syndromes: A review of research findings
ISBN
0898683069
Language
English
Material Type
Serial
Agency
BC Children's and Women's
Location
Sunny Hill Education Resource Centre
Copy 1 BC Children's and Women's Sunny Hill Education Resource Centre REF Available
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The boy in the moon: A father's search for his disabled son

https://libraries.phsa.ca/permalink/catalog111520
Brown, Ian. Toronto, ON: Vintage Canada , 2010. (Book) — 1 copy, 1 available
Audience
Patient or Public
Agency
BC Children's and Women's
Location
Family Support & Resource Centre
Call Number
GK 655 BRO 2009
This book tells the story of a father's personal journey and search for his disabled son. The author's son was born with a rare genetic mutation: at thirteen, his son weighs only 54 pounds, wears diapers, cannot speak and needs to wear special cuffs on his arms so that he cannot harm himself. Writ…
Title
The boy in the moon: A father's search for his disabled son
Author
Brown, Ian
Place
Toronto, ON
Publisher
Vintage Canada
Year Published
2010
Physical Description
Softcover; 295 p.
Topics
Parenting Children with Disabilities
Parenting Children with Physical Disabilities
Genetic Disorders
Abstract
This book tells the story of a father's personal journey and search for his disabled son. The author's son was born with a rare genetic mutation: at thirteen, his son weighs only 54 pounds, wears diapers, cannot speak and needs to wear special cuffs on his arms so that he cannot harm himself. Written with honesty and humour, this award winning book began as a Globe and Mail series.
ISBN
9780679310099
Language
English
Material Type
Book
Agency
BC Children's and Women's
Location
Family Support & Resource Centre
Audience
Patient or Public
Call Number
GK 655 BRO 2009
Copy 1 BC Children's and Women's Family Support & Resource Centre Available
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Care of the infant and child with Trisomy 18 or 13: Medical problems, reported treatments and milestones

https://libraries.phsa.ca/permalink/catalog104182
Barnes, Ann, Carey, John. Omaha, NE: Monroe-Meyer Institute for Genetics and Rehabilitation , 2000. Rev. ed. (Book) — 1 copy, 1 available
Audience
Patient or Public
Agency
BC Children's and Women's
Location
Family Support & Resource Centre
Call Number
GI 320 BAR 2000
Drawing from a combination of the literature and the support organization for Trisomy 18, 13 and Related Disorders (SOFT), this book deals with the daily living issues of children with trisomy. It includes feeding difficulties; postnatal growth; constipation; low muscle tone and neurological proble…
Title
Care of the infant and child with Trisomy 18 or 13: Medical problems, reported treatments and milestones
Author
Barnes, Ann
Carey, John
Edition
Rev. ed.
Place
Omaha, NE
Publisher
Monroe-Meyer Institute for Genetics and Rehabilitation
Year Published
2000
Physical Description
Softcover; 61 pp.
Topics
Edward Sydrome. Trisomy 18
Genetic Disorders
Abstract
Drawing from a combination of the literature and the support organization for Trisomy 18, 13 and Related Disorders (SOFT), this book deals with the daily living issues of children with trisomy. It includes feeding difficulties; postnatal growth; constipation; low muscle tone and neurological problems; common illnesses and problems; congenital anomalies; survival; morality and reported causes; milestones; and guidelines for recommended medical care. Contains many photographs.
Notes
Includes growth chart.
ISBN
1-889843-58-X
Language
English
Material Type
Book
Agency
BC Children's and Women's
Location
Family Support & Resource Centre
Audience
Patient or Public
Call Number
GI 320 BAR 2000
Copy 1 BC Children's and Women's Family Support & Resource Centre Available
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http://www.cw.bc.ca/library/pdf/pamphlets/BCCH1547_CPT1Deficiency.pdf

Biochemical Diseases Clinic. Vancouver, BC: BC Children's Hospital , 2009. (Pamphlet)
Audience
Patient or Public
Agency
BC Children's and Women's
Call Number
BCCH1547
URL Notes
Click on the link above to view
A pamphlet describing CPT 1 deficiency (also known as carnitine palmitoyl transferase - type 1 deficiency). Includes information about how to feed your child and what to do if your child is sick.
Title
CPT 1 deficiency
Author
Biochemical Diseases Clinic
Place
Vancouver, BC
Publisher
BC Children's Hospital
Year Published
2009
Topics
Genetic Disorders
Infants (Newborn)-Diseases
Abstract
A pamphlet describing CPT 1 deficiency (also known as carnitine palmitoyl transferase - type 1 deficiency). Includes information about how to feed your child and what to do if your child is sick.
Language
English
Material Type
Pamphlet
Agency
BC Children's and Women's
URL
http://www.cw.bc.ca/library/pdf/pamphlets/BCCH1547_CPT1Deficiency.pdf
URL Notes
Click on the link above to view
Audience
Patient or Public
Call Number
BCCH1547
Lewis, Vicky. Malden, MA: Blackwell Publishing , 2003. 2nd ed. (Book) — 1 copy, 1 available
Audience
Patient or Public
Agency
BC Children's and Women's
Location
Sunny Hill Education Resource Centre
Call Number
GK 300 LEW 2003
Reviews research on the development of blind children, deaf children, and children with spina bifida, cerebral palsy, Down's syndrome and autism. Includes research on children with developmental co-ordination disorder. Provides information on the nature of each disability, assessment, incidence, an…
Title
Development and disability
Author
Lewis, Vicky
Edition
2nd ed.
Place
Malden, MA
Publisher
Blackwell Publishing
Year Published
2003
Physical Description
Paperback, 23 cm x 15 cm, 454 p.
Topics
Child Development
Developmental Disability
Genetic Disorders
Physical Disability. Physically Challenged
Abstract
Reviews research on the development of blind children, deaf children, and children with spina bifida, cerebral palsy, Down's syndrome and autism. Includes research on children with developmental co-ordination disorder. Provides information on the nature of each disability, assessment, incidence, and causal factors. Summarizes the effect of each disability on the development of motor skills, perception, cognition, communication, emotion and social skills.
ISBN
978-0-631-23466-1
Language
English
Material Type
Book
Agency
BC Children's and Women's
Location
Sunny Hill Education Resource Centre
Audience
Patient or Public
Call Number
GK 300 LEW 2003
Copy 1 BC Children's and Women's Sunny Hill Education Resource Centre Redevelopment Available
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Encyclopedia of genetic disorders and birth defects

https://libraries.phsa.ca/permalink/catalog110555
Wynbrandt, James., Ludman, Mark D. New York, NY: Facts On File (Infobase) , 2008. 3rd ed. (Book) — 1 copy, 1 available
Audience
Professional
Agency
BC Children's and Women's
Location
Study & Learning Commons
Call Number
REF GI 20 WYN 2008
Topics cover everything from the most basic genetic concepts to the latest screening and diagnostic techniques. Coverage includes: ; autism, cancer, chromosomal abnormalities, ethics, genetic counseling, heart defects, muscular dystrophy, neural tube defects, phenylketonuria, spina bifida, and much…
Title
Encyclopedia of genetic disorders and birth defects
Author
Wynbrandt, James.
Ludman, Mark D.
Edition
3rd ed.
Place
New York, NY
Publisher
Facts On File (Infobase)
Year Published
2008
Physical Description
Hardcover, 682 p.
Topics
Genetics/Genetic Disorders-Encyclopedias
Genetic Disorders
Birth Defects. Congenital Abnormalities
Children's Health-Encyclopedias
UBC MD Undergrad
Abstract
Topics cover everything from the most basic genetic concepts to the latest screening and diagnostic techniques. Coverage includes:
autism, cancer, chromosomal abnormalities, ethics, genetic counseling, heart defects, muscular dystrophy, neural tube defects, phenylketonuria, spina bifida, and much more.
ISBN
9780816063963
Language
English
Material Type
Book
Agency
BC Children's and Women's
Location
Study & Learning Commons
Audience
Professional
Call Number
REF GI 20 WYN 2008
Copy 1 BC Children's and Women's Study & Learning Commons REF Available
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Energy makers & mito kids: A little book about mitochondrial disease...

https://libraries.phsa.ca/permalink/catalog111554
Wells, Deobrah Besinger. Rutherford, NJ: Mito Kids Rock , 2008. (Book) — 1 copy, 1 available
Audience
Patient or Public
Agency
BC Children's and Women's
Location
Family Support & Resource Centre
Call Number
FA 500 WEL 2008
This illustrated easy-to-read book is a tool to explain Mitochondrial disease to the people in your community: in your child's classroom, with neighbors, extended family members and friends. About children with all degrees of abilities, it helps them understand the variable issues that children wit…
Title
Energy makers & mito kids: A little book about mitochondrial disease...
Author
Wells, Deobrah Besinger
Place
Rutherford, NJ
Publisher
Mito Kids Rock
Year Published
2008
Physical Description
Softcover: [32 p.]
Topics
Nervous System/Nervous System Diseases-Children
Genetic Disorders
Nervous System/Nervous System Diseases. Neurology
Picture Books
Abstract
This illustrated easy-to-read book is a tool to explain Mitochondrial disease to the people in your community: in your child's classroom, with neighbors, extended family members and friends. About children with all degrees of abilities, it helps them understand the variable issues that children with Mitochondrial Disease face.
Language
English
Material Type
Book
Agency
BC Children's and Women's
Location
Family Support & Resource Centre
Audience
Patient or Public
Call Number
FA 500 WEL 2008
Copy 1 BC Children's and Women's Family Support & Resource Centre Available

Factor V Leiden: Information for patient and families

https://libraries.phsa.ca/permalink/catalog112230

http://www.cw.bc.ca/library/PDF/pamphlets/BCCH1634_FactorVLeiden-2012_July.pdf

Hematology Department. Vancouver, BC: BC Children's Hospital , 2012. (Pamphlet)
Audience
Patient or Public
Agency
BC Children's and Women's
Call Number
BCCH1634
URL Notes
Click on the link above to view/print.
This pamphlet provides information about the blood clotting disorder Factor V Leiden, including how it affects clotting; how the diagnosis is made; information about the genetic inheritance; treatment information; and tips for what you can do if you have Factor V Leiden.
Title
Factor V Leiden: Information for patient and families
Corporate Author
Hematology Department
Place
Vancouver, BC
Publisher
BC Children's Hospital
Year Published
2012
Physical Description
PDF file: 6 p.
Topics
Genetic Disorders
Abstract
This pamphlet provides information about the blood clotting disorder Factor V Leiden, including how it affects clotting; how the diagnosis is made; information about the genetic inheritance; treatment information; and tips for what you can do if you have Factor V Leiden.
Language
English
Material Type
Pamphlet
Agency
BC Children's and Women's
URL
http://www.cw.bc.ca/library/PDF/pamphlets/BCCH1634_FactorVLeiden-2012_July.pdf
URL Notes
Click on the link above to view/print.
Audience
Patient or Public
Call Number
BCCH1634

Fidélie et Annabelle : La trisomie

https://libraries.phsa.ca/permalink/catalog114110
Marleau, Brigitte. Montreal, QC: Boomerang , 2014. (Book) — 1 copy, 1 available
Audience
Patient or Public
Agency
BC Children's and Women's
Location
Family Support & Resource Centre
Call Number
JUNIOR GI 310 MAR 2014
La trisomie « Moi, c'est Fidélie et Annabelle, c'est mon amie. Annabelle a sept ans et elle a la trisomie. Quand j'étais petite, je pensais que la trisomie, c'était comme une maladie... Que si le docteur lui donnait des antibiotiques, eh bien! elle ne serait plus trisomique. Ma maman m'a dit que ça…
Title
Fidélie et Annabelle : La trisomie
Alternate Title
[Fidelie et Annabelle : La trisomie]
Author
Marleau, Brigitte
Place
Montreal, QC
Publisher
Boomerang
Year Published
2014
Physical Description
Hardcover, 25 p.
Series
Au coeur des differences
Topics
Genetic Disorders
Down Syndrome
Abstract
La trisomie « Moi, c'est Fidélie et Annabelle, c'est mon amie. Annabelle a sept ans et elle a la trisomie. Quand j'étais petite, je pensais que la trisomie, c'était comme une maladie... Que si le docteur lui donnait des antibiotiques, eh bien! elle ne serait plus trisomique. Ma maman m'a dit que ça ne se guérissait pas, mais de toute façon, moi, je l'aime comme ça, Annabelle. »
ISBN
9782895957478
Language
French
Material Type
Book
Agency
BC Children's and Women's
Location
Family Support & Resource Centre
Audience
Patient or Public
Call Number
JUNIOR GI 310 MAR 2014
Copy 1 BC Children's and Women's Family Support & Resource Centre Available
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[First ever] national conference on Trisomy X and XYY: The genetics

https://libraries.phsa.ca/permalink/catalog110355
M.I.N.D. Institute. Coto de Caza, CA: KS&A , 2006. (Video) — 1 copy, 1 available
Audience
Patient or Public
Agency
BC Children's and Women's
Location
Family Support & Resource Centre
Call Number
GI 300 FIR 2006
Excerpts from two full days of meetings (March 3-5, 2006) focusing on the needs and issues of Trisomy X and XYY. Features Dr. Patricia Jacobs and Dr. Terry Hassold.
Title
[First ever] national conference on Trisomy X and XYY: The genetics
Corporate Author
M.I.N.D. Institute
Place
Coto de Caza, CA
Publisher
KS&A
Year Published
2006
Physical Description
1 DVD
Topics
Genetic Disorders
XYY Male
Genetics
Abstract
Excerpts from two full days of meetings (March 3-5, 2006) focusing on the needs and issues of Trisomy X and XYY. Features Dr. Patricia Jacobs and Dr. Terry Hassold.
Language
English
Material Type
Video
Agency
BC Children's and Women's
Location
Family Support & Resource Centre
Audience
Patient or Public
Call Number
GI 300 FIR 2006
Copy 1 BC Children's and Women's Family Support & Resource Centre Available

Four feet tall: A child, a dog, a mystery

https://libraries.phsa.ca/permalink/catalog105771
Hingsburger, David, Samuels, Ellery (Illustrator). Eastman, QC: Diverse City Press , 1998. (Book) — 1 copy, 1 available
Audience
Patient or Public
Agency
BC Children's and Women's
Location
Family Support & Resource Centre
Call Number
JUNIOR GI 300 HIN 1998
Fictional story about two best friends, one with Williams syndrome, and a mystery they become entwined in. The story is about difference and diversity that educates and enlightens while it entertains children.
Title
Four feet tall: A child, a dog, a mystery
Author
Hingsburger, David
Samuels, Ellery (Illustrator)
Place
Eastman, QC
Publisher
Diverse City Press
Year Published
1998
Physical Description
76 p. : ill.
Topics
Genetic Disorders
Friendship
Fiction
Abstract
Fictional story about two best friends, one with Williams syndrome, and a mystery they become entwined in. The story is about difference and diversity that educates and enlightens while it entertains children.
Notes
For ages 8-12
ISBN
1896230113
Language
English
Material Type
Book
Agency
BC Children's and Women's
Location
Family Support & Resource Centre
Audience
Patient or Public
Call Number
JUNIOR GI 300 HIN 1998
Copy 1 BC Children's and Women's Family Support & Resource Centre Available
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Genetic and Rare Disease Information Center

https://libraries.phsa.ca/permalink/catalog104612

https://rarediseases.info.nih.gov/

National Human Genome Research Institute. Bethesda, MD: National Institutes of Health (Online)
Audience
Patient or Public
Agency
BC Children's and Women's
genetic disorders, including: Breast cancer|Charcot-Marie-Tooth; Colon cancer; Cystic fibrosis; Hemochromatosis; Huntington's disease; Parkinson's disease; Progeria; Sickle cell disease; Tay-Sachs; Thalassemia; Skin Cancer; Prostate Cancer.
Title
Genetic and Rare Disease Information Center
Corporate Author
National Human Genome Research Institute
Place
Bethesda, MD
Publisher
National Institutes of Health
Topics
Genetic Disorders
Genetics/Genetic Disorders-Directories. Resource Guides
Abstract
The Genetic and Rare Diseases Information Center employs experienced information specialists to answer questions from the general public, including patients and their families, health care professionals and biomedical researchers. Site includes comprehensive information sheets on 15 specific genetic disorders, including: Breast cancer
Charcot-Marie-Tooth; Colon cancer; Cystic fibrosis; Hemochromatosis; Huntington's disease; Parkinson's disease; Progeria; Sickle cell disease; Tay-Sachs; Thalassemia; Skin Cancer; Prostate Cancer.
Material Type
Online
Agency
BC Children's and Women's
URL
https://rarediseases.info.nih.gov/
Audience
Patient or Public

Genetic disorders and the fetus: Diagnosis, prevention and treatment

https://libraries.phsa.ca/permalink/catalog112671
Milunsky, Aubrey (ed.), Milunsky, Jeff M. (ed.). Hoboken, NJ: Wiley-Blackwell , 2010. 6th ed. (Book) — 1 copy, 1 available
Audience
Professional
Agency
BC Children's and Women's
Location
Study & Learning Commons
Call Number
REF GI 300 MIL 2010
This text is in its 6th edition as a major repository of facts about prenatal diagnosis. It is an essential resource for all engaged in prenatal genetic diagnosis, especially obstetricians, maternal-fetal medicine specialists, medical geneticists, genetic counsellors, and pediatricians.
Title
Genetic disorders and the fetus: Diagnosis, prevention and treatment
Author
Milunsky, Aubrey (ed.)
Milunsky, Jeff M. (ed.)
Edition
6th ed.
Place
Hoboken, NJ
Publisher
Wiley-Blackwell
Year Published
2010
Physical Description
Hardcover: 1135 p.
Topics
Genetic Disorders
Genetics
UBC MD Undergrad
Abstract
This text is in its 6th edition as a major repository of facts about prenatal diagnosis. It is an essential resource for all engaged in prenatal genetic diagnosis, especially obstetricians, maternal-fetal medicine specialists, medical geneticists, genetic counsellors, and pediatricians.
ISBN
9781405190879
Language
English
Material Type
Book
Agency
BC Children's and Women's
Location
Study & Learning Commons
Audience
Professional
Call Number
REF GI 300 MIL 2010
Copy 1 BC Children's and Women's Study & Learning Commons REF Available
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Genetics and mental retardation syndromes: A new look at behavior and interventions

https://libraries.phsa.ca/permalink/catalog104484
Dykens, Elisabeth M., Hodapp, Robert M., Finucane, Brenda M. Baltimore, MD: Paul H. Brookes Publishing Co. , 2000. (Book) — 1 copy, 1 available
Audience
Patient or Public
Agency
BC Children's and Women's
Location
Family Support & Resource Centre
Call Number
GI 300 DYK 2000
Identifies the genetic and behaviour characteristics of nine specific genetic syndromes. Four major syndromes (Down syndrome, Williams syndrome , Fragile-X syndrome, and Prader-Willi syndrome) are covered with in-depth information and five other syndromes are reveiwed (Velocardiofacial syndrome; R…
Title
Genetics and mental retardation syndromes: A new look at behavior and interventions
Author
Dykens, Elisabeth M.
Hodapp, Robert M.
Finucane, Brenda M.
Place
Baltimore, MD
Publisher
Paul H. Brookes Publishing Co.
Year Published
2000
Topics
Genetic Disorders
Down Syndrome
Fragile X Syndrome
Prader-Willi Syndrome
Abstract
Identifies the genetic and behaviour characteristics of nine specific genetic syndromes. Four major syndromes (Down syndrome, Williams syndrome , Fragile-X syndrome, and Prader-Willi syndrome) are covered with in-depth information and five other syndromes are reveiwed (Velocardiofacial syndrome; Rubinstein-Taybi syndrome; Smith-Magenis syndrome; Angelman syndrome and 5p- (cri-du-chat) syndrome).
ISBN
1-55766-471-4
Language
English
Material Type
Book
Agency
BC Children's and Women's
Location
Family Support & Resource Centre
Audience
Patient or Public
Call Number
GI 300 DYK 2000
Copy 1 BC Children's and Women's Family Support & Resource Centre Available
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Rath, Tom. Laval, QC: Guy Saint-Jean , 2013. (Book) — 1 copy, 1 available
Audience
Patient or Public
Agency
BC Children's and Women's
Location
Family Support & Resource Centre
Call Number
GI 300 RAT 2013
L'auteur de ce livre n'est pas médecin. Ni nutritionniste. Ni entraîneur. Ni spécialiste du sommeil. L'auteur de ce livre est Tom Rath. Il combat depuis plus de 20 ans une maladie génétique rare : la maladie de von Hippel-Lindau (VHL). Sa lutte quotidienne contre cette maladie aurait pu le mettre K…
Title
Manger, bouger, dormir
Subtitle
Une mise au point en 30 jours pour retrouver la sante
Author
Rath, Tom
Place
Laval, QC
Publisher
Guy Saint-Jean
Year Published
2013
Physical Description
Paperback, 262 p.
Topics
Genetic Disorders
Abstract
L'auteur de ce livre n'est pas médecin. Ni nutritionniste. Ni entraîneur. Ni spécialiste du sommeil. L'auteur de ce livre est Tom Rath. Il combat depuis plus de 20 ans une maladie génétique rare : la maladie de von Hippel-Lindau (VHL). Sa lutte quotidienne contre cette maladie aurait pu le mettre K.O., mais elle l'a plutôt incité à se documenter sur le rôle de l'alimentation, de l'activité physique et du sommeil dans sa vie.
ISBN
9782897580339
Language
French
Material Type
Book
Agency
BC Children's and Women's
Location
Family Support & Resource Centre
Audience
Patient or Public
Call Number
GI 300 RAT 2013
Copy 1 BC Children's and Women's Family Support & Resource Centre STACKS Available
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Mendelian inheritance in man: A catalog of human genes and genetic disorders: Vol 1

https://libraries.phsa.ca/permalink/catalog112687

http://www.ncbi.nlm.nih.gov/omim

McKusiak, Victor A (Ed). Baltimore, MD: Johns Hopkins University Press , 1998. 12th Ed. (Book) — 2 copies, 2 available
Audience
Professional
Agency
BC Children's and Women's
Location
Study & Learning Commons
Call Number
REF GI 20 MCK 1998 VOL 1
URL Notes
The database corresponds to the print publication.
A comprehensive, authoritative and timely knowledgebase of human genes and genetic disorders compiled to support human genetics research and education and the practice of clinical genetics.
Title
Mendelian inheritance in man: A catalog of human genes and genetic disorders: Vol 1
Author
McKusiak, Victor A (Ed).
Edition
12th Ed.
Place
Baltimore, MD
Publisher
Johns Hopkins University Press
Year Published
1998
Physical Description
Hardcover
Topics
Genetics
Genetic Disorders
Genetics/Genetic Disorders-Encyclopedias
Abstract
A comprehensive, authoritative and timely knowledgebase of human genes and genetic disorders compiled to support human genetics research and education and the practice of clinical genetics.
ISBN
0801857422
Language
English
Material Type
Book
Agency
BC Children's and Women's
Location
Study & Learning Commons
URL
http://www.ncbi.nlm.nih.gov/omim
URL Notes
The database corresponds to the print publication.
Audience
Professional
Call Number
REF GI 20 MCK 1998 VOL 1
Copy 1 BC Children's and Women's Study & Learning Commons REF Available
Copy 2 BC Children's and Women's Study & Learning Commons REF Available
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Mendelian inheritance in man: A catalog of human genes and genetic disorders: Vol 2

https://libraries.phsa.ca/permalink/catalog112688

http://www.ncbi.nlm.nih.gov/omim

McKusiak, Victor A (Ed). Baltimore, MD: Johns Hopkins University Press , 1998. 12th Ed. (Book) — 2 copies, 2 available
Audience
Professional
Agency
BC Children's and Women's
Location
Study & Learning Commons
Call Number
REF GI 20 MCK 1998 VOL 2
URL Notes
The database corresponds to the print publication.
A comprehensive, authoritative and timely knowledgebase of human genes and genetic disorders compiled to support human genetics research and education and the practice of clinical genetics.
Title
Mendelian inheritance in man: A catalog of human genes and genetic disorders: Vol 2
Author
McKusiak, Victor A (Ed).
Edition
12th Ed.
Place
Baltimore, MD
Publisher
Johns Hopkins University Press
Year Published
1998
Physical Description
Hardcover
Topics
Genetics
Genetics/Genetic Disorders-Encyclopedias
Genetic Disorders
Abstract
A comprehensive, authoritative and timely knowledgebase of human genes and genetic disorders compiled to support human genetics research and education and the practice of clinical genetics.
ISBN
0801857422
Language
English
Material Type
Book
Agency
BC Children's and Women's
Location
Study & Learning Commons
URL
http://www.ncbi.nlm.nih.gov/omim
URL Notes
The database corresponds to the print publication.
Audience
Professional
Call Number
REF GI 20 MCK 1998 VOL 2
Copy 1 BC Children's and Women's Study & Learning Commons REF Available
Copy 2 BC Children's and Women's Study & Learning Commons REF Available
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Mendelian inheritance in man: A catalog of human genes and genetic disorders: Vol 3

https://libraries.phsa.ca/permalink/catalog112689

http://www.ncbi.nlm.nih.gov/omim

McKusiak, Victor A (Ed). Baltimore, MD: Johns Hopkins University Press , 1998. (Book) — 2 copies, 2 available
Audience
Professional
Agency
BC Children's and Women's
Location
Study & Learning Commons
Call Number
REF GI 20 MCK 1998 VOL 3
URL Notes
The database corresponds to the print publication.
A comprehensive, authoritative and timely knowledgebase of human genes and genetic disorders compiled to support human genetics research and education and the practice of clinical genetics.
Title
Mendelian inheritance in man: A catalog of human genes and genetic disorders: Vol 3
Author
McKusiak, Victor A (Ed).
Place
Baltimore, MD
Publisher
Johns Hopkins University Press
Year Published
1998
Physical Description
Hardcover
Topics
Genetic Disorders
Genetics
Genetics/Genetic Disorders-Encyclopedias
Abstract
A comprehensive, authoritative and timely knowledgebase of human genes and genetic disorders compiled to support human genetics research and education and the practice of clinical genetics.
ISBN
0801857422
Language
English
Material Type
Book
Agency
BC Children's and Women's
Location
Study & Learning Commons
URL
http://www.ncbi.nlm.nih.gov/omim
URL Notes
The database corresponds to the print publication.
Audience
Professional
Call Number
REF GI 20 MCK 1998 VOL 3
Copy 1 BC Children's and Women's Study & Learning Commons REF Available
Copy 2 BC Children's and Women's Study & Learning Commons REF Available
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Mind and body : Answers to your questions

https://libraries.phsa.ca/permalink/catalog113526

www.cdss.ca

Canadian Down Syndrome Society. Calgary, AB: Canadian Down Syndrome Society , 2014. — 2 copies, 2 available
Audience
Patient or Public
Agency
BC Children's and Women's
Location
Family Support & Resource Centre
Call Number
GI 310 CAN 2014
Mind and Body is a book written for self-advocates covering topics such as the male and female body, relationships, sexual safety, pregnancy, and abuse, plus much more. We wanted to make the most comprehensive sexuality resource there is for individuals with disabilities, so we collaborated with pr…
Title
Mind and body : Answers to your questions
Corporate Author
Canadian Down Syndrome Society
Place
Calgary, AB
Publisher
Canadian Down Syndrome Society
Year Published
2014
Physical Description
Letter from CDSS
Topics
Down Syndrome
Genetic Disorders
Abstract
Mind and Body is a book written for self-advocates covering topics such as the male and female body, relationships, sexual safety, pregnancy, and abuse, plus much more. We wanted to make the most comprehensive sexuality resource there is for individuals with disabilities, so we collaborated with professionals in the sexual education field.
Language
English
Agency
BC Children's and Women's
Location
Family Support & Resource Centre
URL
www.cdss.ca
Audience
Patient or Public
Call Number
GI 310 CAN 2014
Copy 1 BC Children's and Women's Family Support & Resource Centre Available
Copy 2 BC Children's and Women's Sunny Hill Education Resource Centre Redevelopment Available

Missing genetic pieces: Strategies for living with VCFS, the chromosome 22q11 deletion.

https://libraries.phsa.ca/permalink/catalog108820
Baker-Gomez, Sherry. Phoenix, AZ: Desert Pearl Publishing , c2004. (Book) — 1 copy, 1 available
Audience
Patient or Public
Agency
BC Children's and Women's
Location
Family Support & Resource Centre
Call Number
GI 300 BAK 2004
This is a comprehensive handbook for parents, professionals and anyone wanting to know about chromosome 22 deletion (22q11) and its dynamics. It includes personal stories, dictionary of terms, useful tips and resources.
Title
Missing genetic pieces: Strategies for living with VCFS, the chromosome 22q11 deletion.
Author
Baker-Gomez, Sherry
Place
Phoenix, AZ
Publisher
Desert Pearl Publishing
Year Published
c2004
Physical Description
Paperback; xiv, 559 p.
Topics
Genetic Disorders
Heart/Heart Diseases-Children
Children with Facial Difference
Abstract
This is a comprehensive handbook for parents, professionals and anyone wanting to know about chromosome 22 deletion (22q11) and its dynamics. It includes personal stories, dictionary of terms, useful tips and resources.
ISBN
097453580X
Language
English
Material Type
Book
Agency
BC Children's and Women's
Location
Family Support & Resource Centre
Audience
Patient or Public
Call Number
GI 300 BAK 2004
Copy 1 BC Children's and Women's Family Support & Resource Centre Available
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Rett syndrome: Therapeutic interventions

https://libraries.phsa.ca/permalink/catalog112208
Lotan, Meir (ed.), Merrick, Joav (ed.). New York, NY: Nova Science Publishers, Inc. , 2011. (Book) — 1 copy, 1 available
Audience
Professional
Agency
BC Children's and Women's
Location
Sunny Hill Education Resource Centre
Call Number
REF GI 300 LOT 2011
This book is the collected experience of a devoted group of therapists who have spent a major part of their professional lives working with individuals with Rett syndrome, trying to unveil and overcome this debilitating syndrome. The knowledge presented in this book will support health care profes…
Title
Rett syndrome: Therapeutic interventions
Author
Lotan, Meir (ed.)
Merrick, Joav (ed.)
Place
New York, NY
Publisher
Nova Science Publishers, Inc.
Year Published
2011
Physical Description
Hardcover: 431 p. (index)
Series
Disability Studies
Topics
Genetic Disorders
Developmental Disability
Abstract
This book is the collected experience of a devoted group of therapists who have spent a major part of their professional lives working with individuals with Rett syndrome, trying to unveil and overcome this debilitating syndrome. The knowledge presented in this book will support health care professionals to better assist Rett syndrome clients and their families in dealing with this condition.
ISBN
9781617286148
Language
English
Material Type
Book
Agency
BC Children's and Women's
Location
Sunny Hill Education Resource Centre
Audience
Professional
Call Number
REF GI 300 LOT 2011
Copy 1 BC Children's and Women's Sunny Hill Education Resource Centre REF Available
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Gorlin, Robert J., Cohen Jr., M. Michael, Hennekam, Raoul C. M. New York, N.Y.: Oxford University Press , 2001. Fourth edition. (Book) — 1 copy, 1 available
Audience
Professional
Agency
BC Children's and Women's
Location
Sunny Hill Education Resource Centre
Call Number
REF GI 20 GOR 2001
This illustrated text covers over 700 different genetic syndromes involving the head and neck inlcuding the phenotype spectrum, epidemiology, mode of inheritance and pathogenesis. Contents: Deformations and disruptions; Teratogenic agents; Chromosomal syndromes: Common and/or well-known syndromes;…
Title
Syndromes of the head and neck
Author
Gorlin, Robert J.
Cohen Jr., M. Michael
Hennekam, Raoul C. M.
Edition
Fourth edition
Place
New York, N.Y.
Publisher
Oxford University Press
Year Published
2001
Physical Description
Hard cover 1283 p.
Topics
Genetics/Genetic Disorders-Encyclopedias
Genetic Disorders
Birth Defects. Congenital Abnormalities
Children's Health. Pediatrics
Neck. Neck Disorders
Abstract
This illustrated text covers over 700 different genetic syndromes involving the head and neck inlcuding the phenotype spectrum, epidemiology, mode of inheritance and pathogenesis. Contents: Deformations and disruptions; Teratogenic agents; Chromosomal syndromes: Common and/or well-known syndromes; Chromosomal syndromes: Unusual variants; Metabolic disorders; Syndromes affecting bone: The osteogenesis imperfectas; Syndromes affecting bone: Chondrodysplasias and chondrodystrophies; Syndromes affecting bone: Craniotubular bone disorders; Syndromes affecting bone: Other skeletal dysplasias; Proportionate short stature syndromes; Overgrowth syndromes and postnatal onset obesity syndromes; Hamartoneoplastic syndromes; Syndromes affecting the skin and mucosa; Syndromes with craniosynostosis: General aspects and well-known syndromes; syndromes with craniosynostosis: miscellaneous syndromes; Syndromes of abnormal craniofacial contour; Syndromes affecting the central nervous system; Syndromes with contractures; Branchial arch and oro-acral disorders; Orofacial clefting syndromes: General aspects; Orofacial clefting syndromes: Common and well-known kyndromes; Orofacial clefting syndromes: Other syndromes; Orofacial clefting syndromes: Associations; Syndromes with unusual facies: Well-known syndromes; Syndromes with unusual facies: Other syndromes; Syndromes with gingival/periodontal components; Syndromes with unusual dental findings; Well-known miscellaneous syndromes; Other miscellaneous syndromes; Syndromes of the eye
ISBN
9780195118612
Language
English
Material Type
Book
Agency
BC Children's and Women's
Location
Sunny Hill Education Resource Centre
Audience
Professional
Call Number
REF GI 20 GOR 2001
Copy 1 BC Children's and Women's Sunny Hill Education Resource Centre REF / Redevelopment Available
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Tuberous Sclerosis Canada Sclerose Tubereuse

https://libraries.phsa.ca/permalink/catalog109368

http://www.tscanada.ca/

Barrie, ON: Tuberous Sclerosis Canada , 2006. (Online)
Audience
Patient or Public
Agency
BC Children's and Women's
Tuberous Sclerosis Canada Sclerose Tubereuse (TSCST) provides up-to-date medical, genetic and neurological information on Tuberous Sclerosis Complex. TSCST can help individuals contact other families who have similar symptoms. TSCST has information on medical and rehabilitation clinics specializing…
Title
Tuberous Sclerosis Canada Sclerose Tubereuse
Place
Barrie, ON
Publisher
Tuberous Sclerosis Canada
Year Published
2006
Topics
Tuberous Sclerosis
Genetic Disorders
Brain Disorders-Congenital
Seizure Disorders. Epilepsy
Abstract
Tuberous Sclerosis Canada Sclerose Tubereuse (TSCST) provides up-to-date medical, genetic and neurological information on Tuberous Sclerosis Complex. TSCST can help individuals contact other families who have similar symptoms. TSCST has information on medical and rehabilitation clinics specializing in the treatment of TSC. TSCST supports medical, genetic and rehabilitative research efforts.
Material Type
Online
Agency
BC Children's and Women's
URL
http://www.tscanada.ca/
Audience
Patient or Public

Urea cycle disorders: A guide for patients, parents and families

https://libraries.phsa.ca/permalink/catalog113941

http://www.nucdf.org/documents/UCD_Guide_NewFamilies_USA.pdf

National Urea Cycle Disorders Foundation. Pasadena, CA: National Urea Cycle Disorders Foundation , 2015. (Online, Pamphlet)
Audience
Patient or Public
Agency
BC Children's and Women's
URL Notes
Click on the link above to view/print.
You or your child have/has been diagnosed with a urea cycle disorder. Initially any information regarding these types of condition is hard to understand, especially at a time when you are naturally very worried and suddenly provided with lots of medical information. By describing this condition in …
Title
Urea cycle disorders: A guide for patients, parents and families
Corporate Author
National Urea Cycle Disorders Foundation
Place
Pasadena, CA
Publisher
National Urea Cycle Disorders Foundation
Year Published
2015
Topics
Genetic Disorders
Urinary System
Abstract
You or your child have/has been diagnosed with a urea cycle disorder. Initially any information regarding these types of condition is hard to understand, especially at a time when you are naturally very worried and suddenly provided with lots of medical information. By describing this condition in booklet format, you will be able to read it at your leisure, and then write down any important questions that you may want to ask your specialist doctor, nurse or dietitian.
Language
English
Material Type
Online
Pamphlet
Agency
BC Children's and Women's
URL
http://www.nucdf.org/documents/UCD_Guide_NewFamilies_USA.pdf
URL Notes
Click on the link above to view/print.
Audience
Patient or Public

VCFS (Velo-Cardio-Facial syndrome): Footprints of hope

https://libraries.phsa.ca/permalink/catalog108817
Tanner, Raymond Geoffrey. Seaford, South Australia: Freestyle Publications , 2004. (Book) — 1 copy, 1 available
Audience
Patient or Public
Agency
BC Children's and Women's
Location
Family Support & Resource Centre
Call Number
GI 300 TAN 2004
VCFS is the second most common genetic disorder after Down syndrome. Most children born with VCFS have heart and palate defects, distinctive facial appearance and learning difficulties. tis book explains this syndrome and tells stories of families that have suffered from it.
Title
VCFS (Velo-Cardio-Facial syndrome): Footprints of hope
Author
Tanner, Raymond Geoffrey
Place
Seaford, South Australia
Publisher
Freestyle Publications
Year Published
2004
Physical Description
Paperback; vii, 105 p.
Topics
Genetic Disorders
Heart/Heart Diseases-Children
Children with Facial Difference
Abstract
VCFS is the second most common genetic disorder after Down syndrome. Most children born with VCFS have heart and palate defects, distinctive facial appearance and learning difficulties. tis book explains this syndrome and tells stories of families that have suffered from it.
ISBN
958117535
Language
English
Material Type
Book
Agency
BC Children's and Women's
Location
Family Support & Resource Centre
Audience
Patient or Public
Call Number
GI 300 TAN 2004
Copy 1 BC Children's and Women's Family Support & Resource Centre Available
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VHL handbook: What you need to know about VHL: A reference handbook for people with von Hippel-Lindau Disease, their families, and support personnel

https://libraries.phsa.ca/permalink/catalog106207

http://www.vhl.org/handbook/hbcopy.htm

VHL Family Alliance (Eds.). VHL Family Alliance , 2005. Version 3.0. (Book) — 1 copy, 1 available
Audience
Patient or Public
Agency
BC Children's and Women's
Location
Family Support & Resource Centre
Call Number
GI 300 WHA 2005
URL Notes
Click on the link above to view as a PDF file (2137K). Also available in Spanish from the same website.
This handbook is compiled by the VHL Family Alliance. It covers the impact of Von Hippel-Lindau (VHL)disease on all aspects of life, including definitions and treatment options.
Title
VHL handbook: What you need to know about VHL: A reference handbook for people with von Hippel-Lindau Disease, their families, and support personnel
Corporate Author
VHL Family Alliance (Eds.)
Edition
Version 3.0
Publisher
VHL Family Alliance
Year Published
2005
Physical Description
50 p.
Topics
Genetic Disorders
Chromosome Abnormalities
Abstract
This handbook is compiled by the VHL Family Alliance. It covers the impact of Von Hippel-Lindau (VHL)disease on all aspects of life, including definitions and treatment options.
ISBN
1929539002
Language
English
Material Type
Book
Agency
BC Children's and Women's
Location
Family Support & Resource Centre
URL
http://www.vhl.org/handbook/hbcopy.htm
URL Notes
Click on the link above to view as a PDF file (2137K). Also available in Spanish from the same website.
Audience
Patient or Public
Call Number
GI 300 WHA 2005
Copy 1 BC Children's and Women's Family Support & Resource Centre Available
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http://www.nucdf.org/ucd.htm

National Urea Cycle Disorders Foundation. Pasadena, CA: National Urea Cycle Disorders Foundation , 2015. (Online)
Audience
Patient or Public
Agency
BC Children's and Women's
URL Notes
Click on the link above to view/print.
A urea cycle disorder is a genetic disorder caused by a mutation that results in a deficiency of one of the six enzymes in the urea cycle. These enzymes are responsible for removing ammonia from the blood stream. The National Urea Cycle Disorders Foundation provides information and resources on
Title
What is a urea cycle disorder?
Corporate Author
National Urea Cycle Disorders Foundation
Place
Pasadena, CA
Publisher
National Urea Cycle Disorders Foundation
Year Published
2015
Topics
Genetic Disorders
Urinary System
Abstract
A urea cycle disorder is a genetic disorder caused by a mutation that results in a deficiency of one of the six enzymes in the urea cycle. These enzymes are responsible for removing ammonia from the blood stream. The National Urea Cycle Disorders Foundation provides information and resources on this disorder.
Language
English
Material Type
Online
Agency
BC Children's and Women's
URL
http://www.nucdf.org/ucd.htm
URL Notes
Click on the link above to view/print.
Audience
Patient or Public

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