Angelman Syndrome
https://libraries.phsa.ca/permalink/catalog104196
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.
- 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
- 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 |
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 |
Canadian directory of genetic support groups
https://libraries.phsa.ca/permalink/catalog104273
https://www.lhsc.on.ca/canadian-directory-of-genetic-support-groups/introduction-to-the-directory
Canadian Association of Genetic Counsellors. London, ON: London Health Sciences Centre (Online)- Audience
- Patient or Public
- Agency
- BC Children's and Women's
The directory is designed as a resource guide for families and professionals seeking information on genetic support groups in Canada and the US with special focus on rare genetic disorders.
- Title
- Canadian directory of genetic support groups
- Corporate Author
- Canadian Association of Genetic Counsellors
- Place
- London, ON
- Publisher
- London Health Sciences Centre
- Abstract
- The directory is designed as a resource guide for families and professionals seeking information on genetic support groups in Canada and the US with special focus on rare genetic disorders.
- Material Type
- Online
- Agency
- BC Children's and Women's
- URL
- https://www.lhsc.on.ca/canadian-directory-of-genetic-support-groups/introduction-to-the-directory
- Audience
- Patient or Public
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.
- 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 |
CPT 1 deficiency
https://libraries.phsa.ca/permalink/catalog110948
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
- 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 Notes
- Click on the link above to view
- Audience
- Patient or Public
- Call Number
- BCCH1547
Development and disability
https://libraries.phsa.ca/permalink/catalog107958
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 |
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 |
Encyclopedia of genetics (Volume 1)
https://libraries.phsa.ca/permalink/catalog112666
Ness, Bryan D. (ed.), Knight, Jeffrey A. (ed.).
Pasadena, California:
Salem Press, Inc.
, 2004.
Revised Edition.
(Book)
—
1 copy, 1 available
- Audience
- Professional
- Agency
- BC Children's and Women's
- Location
- Study & Learning Commons
- Call Number
- REF GI 20 NES 2004 v.1
This encyclopedia provides a thorough yet accessible overview of genetics. This revised edition adds 64 new overview essays to the 172 original entries.
- Title
- Encyclopedia of genetics (Volume 1)
- Subtitle
- A - Hybr
- Edition
- Revised Edition
- Place
- Pasadena, California
- Publisher
- Salem Press, Inc.
- Year Published
- 2004
- Physical Description
- Hardcover: 440 p.
- Abstract
- This encyclopedia provides a thorough yet accessible overview of genetics. This revised edition adds 64 new overview essays to the 172 original entries.
- ISBN
- 1587651491
- Language
- English
- Material Type
- Book
- Agency
- BC Children's and Women's
- Location
- Study & Learning Commons
- Audience
- Professional
- Call Number
- REF GI 20 NES 2004 v.1
| Copy 1 | BC Children's and Women's | Study & Learning Commons | REF | Available |
Encyclopedia of genetics (Volume 2)
https://libraries.phsa.ca/permalink/catalog112667
Ness, Bryan D. (ed.), Knight, Jeffrey A. (ed.).
Pasadena, California:
Salem Press, Inc.
, 2004.
Revised Edition.
(Book)
—
1 copy, 1 available
- Audience
- Professional
- Agency
- BC Children's and Women's
- Location
- Study & Learning Commons
- Call Number
- REF GI 20 NES 2004 v.2
This encyclopedia provides a thorough yet accessible overview of genetics. This revised edition adds 64 new overview essays to the 172 original entries.
- Title
- Encyclopedia of genetics (Volume 2)
- Subtitle
- Hybr - Z
- Edition
- Revised Edition
- Place
- Pasadena, California
- Publisher
- Salem Press, Inc.
- Year Published
- 2004
- Physical Description
- Hardcover: 863 p.
- Abstract
- This encyclopedia provides a thorough yet accessible overview of genetics. This revised edition adds 64 new overview essays to the 172 original entries.
- ISBN
- 1587651491
- Language
- English
- Material Type
- Book
- Agency
- BC Children's and Women's
- Location
- Study & Learning Commons
- Audience
- Professional
- Call Number
- REF GI 20 NES 2004 v.2
| Copy 1 | BC Children's and Women's | Study & Learning Commons | REF | Available |
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 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 |
[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
- 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 |
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
- 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
- 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
- Edition
- 6th ed.
- Place
- Hoboken, NJ
- Publisher
- Wiley-Blackwell
- Year Published
- 2010
- Physical Description
- Hardcover: 1135 p.
- 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 |
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
- Place
- Baltimore, MD
- Publisher
- Paul H. Brookes Publishing Co.
- Year Published
- 2000
- 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 |
Manger, bouger, dormir
https://libraries.phsa.ca/permalink/catalog114009
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 |
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
- 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 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 |
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
- 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 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 |
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
- 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 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 |
Mind and body : Answers to your questions
https://libraries.phsa.ca/permalink/catalog113526
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.
- 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 |
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
- Place
- New York, NY
- Publisher
- Nova Science Publishers, Inc.
- Year Published
- 2011
- Physical Description
- Hardcover: 431 p. (index)
- Series
- Disability Studies
- 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 |
Syndromes of the head and neck
https://libraries.phsa.ca/permalink/catalog111367
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
- 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 |
Tuberous Sclerosis Canada Sclerose Tubereuse
https://libraries.phsa.ca/permalink/catalog109368
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
- 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
- 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 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.
- 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 |
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.
- 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 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 |
What is a urea cycle disorder?
https://libraries.phsa.ca/permalink/catalog113940
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 Notes
- Click on the link above to view/print.
- Audience
- Patient or Public