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Website
PHSA Users:
http://search.ebscohost.com/login.aspx?direct=true&db=edspub&AN=edp30593&site=pfi-live
UBC Users:
http://gw2jh3xr2c.search.serialssolutions.com/?SS_searchTypeJournal=yes&V=1.0&L=GW2JH3XR2C&S=AC_T_B&C=Gene+Therapy
Place of Publication
Baltimore, MD
Publisher
Nature Publishing Group
Publication Date
1994 - Present
ISSN
0969-7128
Language
English
Material Type
Serial
Frequency
Monthly
Holdings
CFRI/Study & Learning Commons - Print: v.1:2-v.12:14,17,19-22,24 (1994-2005); + suppls.
Missing: v.8:23 (2001); v.9:5,8,20,24 (2002); v.10:22-26 (2003); v.11:11,15,19,20 (2004); v.12:1,3,5,15,16,18,23 (2005).
Online: 1997 to present.
Websites
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Recombinant human activated protein C as a therapy for pre-eclampsia

https://cwslc.andornot.com/en/permalink/catalog113962
Peng, Gang. [Vancouver, BC?]: University of British Columbia , 2007.
Website
http://hdl.handle.net/2429/32051
Material Type
Thesis
Call Number
Thesis Shelf
Pre-eclampsia remains one of the most common causes of maternal mortality in the developed world, and we still have no known effective prophylaxis and proven modifiers. The recent successful clinical trial of recombinant human activated protein C (rhAPC) in the management of SIRS (systemic inflamma…
Website
http://hdl.handle.net/2429/32051
Author
Peng, Gang
Place of Publication
[Vancouver, BC?]
Publisher
University of British Columbia
Publication Date
2007
Subject
Faculty of Medicine
Theses
Abstract
Pre-eclampsia remains one of the most common causes of maternal mortality in the developed world, and we still have no known effective prophylaxis and proven modifiers. The recent successful clinical trial of recombinant human activated protein C (rhAPC) in the management of SIRS (systemic inflammatory response syndrome) has drawn attention to the possible use of this medicine for other conditions. Pre-eclampsia, has remarkable similarity to SIRS and may be such a condition.
Language
English
Material Type
Thesis
Call Number
Thesis Shelf
Websites
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Conn's current therapy 2013

https://cwslc.andornot.com/en/permalink/catalog112712
Bope, Edward T., Kellerman, Rick D. Philadelphia, PA: Elsevier Saunders , 2013.
Material Type
Book
Call Number
REF FA 140 BOP 2013
Availability
1 copy, 1 available
This text is designed to provide busy medical practitioners with quick, reliable treatment protocols for the most common complaints and diagnoses.
Author
Bope, Edward T.
Kellerman, Rick D.
Place of Publication
Philadelphia, PA
Publisher
Elsevier Saunders
Publication Date
2013
Physical Description
Hardcover: 1236 p.
Subject
Diagnostic Tests/Procedures. Physical Diagnosis
Symptoms
UBC MD Undergrad
Abstract
This text is designed to provide busy medical practitioners with quick, reliable treatment protocols for the most common complaints and diagnoses.
ISBN
9781455702954
Language
English
Material Type
Book
Call Number
REF FA 140 BOP 2013

Copies

Copy 1 BC Children's and Women's Study and Learning Commons REF Available
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Krause's food, nutrition, and diet therapy

https://cwslc.andornot.com/en/permalink/catalog112694
Mahan, L. Kathleen, Escott-Stump, Sylvia. Philadelphia, PA: Saunders , 2004. 11th ed.
Material Type
Book
Call Number
REF BB 200 MAH 2004
Availability
1 copy, 1 available
This text provides the theoretical knowledge and clinical information behind basic nutrition, assessing clients of varying ages and illnesses, planning dietary support that meets their unique needs, and promoting good health and fitness.
Author
Mahan, L. Kathleen
Escott-Stump, Sylvia
Edition
11th ed.
Place of Publication
Philadelphia, PA
Publisher
Saunders
Publication Date
2004
Physical Description
Hardcover: 1282 p.
Subject
Nutrition-Directories. Resource Guides
Feeding and Nutrition
UBC MD Undergrad
Abstract
This text provides the theoretical knowledge and clinical information behind basic nutrition, assessing clients of varying ages and illnesses, planning dietary support that meets their unique needs, and promoting good health and fitness.
ISBN
0721697844
Language
English
Material Type
Book
Call Number
REF BB 200 MAH 2004

Copies

Copy 1 BC Children's and Women's Study and Learning Commons REF Available
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Characterization of the human gonadotropin-releasing hormone receptor gene at the molecular level

https://cwslc.andornot.com/en/permalink/catalog113982
Fan, Nancy C. [Vancouver, BC?]: University of British Columbia , 1995.
Website
http://hdl.handle.net/2429/7255
Material Type
Thesis
Call Number
Thesis Shelf
The gonadotropin - releasing hormone (GnRH) receptor is a plasma membrane associated receptor and a member of the GTP - binding protein coupled receptor family. The interaction of the ligand, GnRH, and the GnRH receptor is a critical event in the endocrine control of reproduction. This coupling sti…
Website
http://hdl.handle.net/2429/7255
Author
Fan, Nancy C.
Place of Publication
[Vancouver, BC?]
Publisher
University of British Columbia
Publication Date
1995
Subject
Faculty of Medicine
Theses
Abstract
The gonadotropin - releasing hormone (GnRH) receptor is a plasma membrane associated receptor and a member of the GTP - binding protein coupled receptor family. The interaction of the ligand, GnRH, and the GnRH receptor is a critical event in the endocrine control of reproduction. This coupling stimulates the synthesis and release of both luteinizing hormone and follicle stimulating hormone from the anterior pituitary. In addition, GnRH - GnRH receptor binding acts locally to regulate human chorionic gonadotropin secretion in the placenta and steroidogenesis in the ovary. The objective of this thesis was to isolate and characterize the gene for the GnRH receptor in human.
Language
English
Material Type
Thesis
Call Number
Thesis Shelf
Websites
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Goal setting and motivation in therapy: Engaging children and parents

https://cwslc.andornot.com/en/permalink/catalog120014
Philadelphia, PA: Jessica Kingsley Publishers , 2016.
Material Type
Book
Call Number
REF CC 350 POU 2015
Availability
1 copy, 1 available
Setting goals not only allows children, and their families, to engage with the overall therapeutic process, but it also provides an essential motivational element throughout the entire therapeutic process. The editors and contributors give practical advice on empathically collaborating with the chi…
Editor
Poulsen, Anne A.
Ziviani, Jenny
Cuskelly, Monica
Place of Publication
Philadelphia, PA
Publisher
Jessica Kingsley Publishers
Publication Date
2016
Physical Description
Softcover; 269 p.
Subjects
Motivational interviewing
Subject
Family Therapy
Abstract
Setting goals not only allows children, and their families, to engage with the overall therapeutic process, but it also provides an essential motivational element throughout the entire therapeutic process. The editors and contributors give practical advice on empathically collaborating with the child and his or her family, to clearly identify achievable goals that can be wholeheartedly pursued. Key information on Self-Determination Theory (SDT) is accessibly explained, which will aid professional understanding of the relationship between motivation, goal-setting, and strong therapeutic practice. The approaches in this book can be used by a wide range of professionals, including those who specialise in working with children with physical disabilities, learning disabilities, and emotional and behavioural difficulties.
ISBN
9781849054485
Material Type
Book
Call Number
REF CC 350 POU 2015

Copies

Copy 1 BC Children's and Women's Study and Learning Commons Available
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Neonatal peripheral intravenous therapy: Self-instructional learning package

https://cwslc.andornot.com/en/permalink/catalog112269
Irwin, Sandra. [Vancouver, BC?]: BC Children's and Women's Hospital & Health Centre of BC , 2007.
Material Type
Book
Call Number
REF EB 800 IRW 2007
Availability
1 copy, 1 available
This Self Instructional Learning Package (SILP) has been developed to guide the neonatal nurse towards competency in Intravenous (IV) therapy. Learning objectives are provided to facilitate identification of learning needs and goals.
Author
Irwin, Sandra
Corporate Author
Neonatal Intensive Care Unit (NICU)
Place of Publication
[Vancouver, BC?]
Publisher
BC Children's and Women's Hospital & Health Centre of BC
Publication Date
2007
Physical Description
Spiralbound: 40 p.
Subject
Intensive Care Units-Neonatal. Infants
Intensive Care Nursing
Abstract
This Self Instructional Learning Package (SILP) has been developed to guide the neonatal nurse towards competency in Intravenous (IV) therapy. Learning objectives are provided to facilitate identification of learning needs and goals.
Language
English
Material Type
Book
Call Number
REF EB 800 IRW 2007

Copies

Copy 2 BC Children's and Women's Study and Learning Commons REF Available
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Occupational and physical therapy for children with rheumatic diseases: A clinical handbook

https://cwslc.andornot.com/en/permalink/catalog112708
Kuchta, Gay (ed.), Davidson, Iris (ed.). New York, NY: Radcliffe Publishing , 2008.
Material Type
Book
Call Number
REF FB 320 KUC 2008
Availability
1 copy, 1 available
This handbook encourages a multi-disciplinary, team-based approach to providing treatment of pediatric rheumatic diseases. Includes over 230 full color images and reproducible resources for patients and carers. This guide will be helpful for allied health professionals, especially those working wit…
Author
Kuchta, Gay (ed.)
Davidson, Iris (ed.)
Place of Publication
New York, NY
Publisher
Radcliffe Publishing
Publication Date
2008
Physical Description
Softcover: 316 p.
Subject
Occupational Therapy
Physical Therapy. Physiotherapy
Arthritis. Arthritis-Therapy
Rheumatoid Arthritis
UBC MD Undergrad
Abstract
This handbook encourages a multi-disciplinary, team-based approach to providing treatment of pediatric rheumatic diseases. Includes over 230 full color images and reproducible resources for patients and carers. This guide will be helpful for allied health professionals, especially those working with children.
ISBN
9781846192333
Language
English
Material Type
Book
Call Number
REF FB 320 KUC 2008

Copies

Copy 1 BC Children's and Women's Study and Learning Commons REF Available
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Mendelian inheritance in man: A catalog of human genes and genetic disorders: Vol 1

https://cwslc.andornot.com/en/permalink/catalog112687
McKusiak, Victor A (Ed). Baltimore, MD: Johns Hopkins University Press , 1998. 12th Ed.
Website
http://www.ncbi.nlm.nih.gov/omim
Material Type
Book
Call Number
REF GI 20 MCK 1998 VOL 1
Availability
2 copies, 2 available
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.
Website
http://www.ncbi.nlm.nih.gov/omim
Website Notes
The database corresponds to the print publication.
Author
McKusiak, Victor A (Ed).
Edition
12th Ed.
Place of Publication
Baltimore, MD
Publisher
Johns Hopkins University Press
Publication Date
1998
Physical Description
Hardcover
Subject
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
Call Number
REF GI 20 MCK 1998 VOL 1

Copies

Copy 1 BC Children's and Women's Study and Learning Commons REF Available
Copy 2 BC Children's and Women's Study and Learning Commons REF Available
Websites
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Mendelian inheritance in man: A catalog of human genes and genetic disorders: Vol 2

https://cwslc.andornot.com/en/permalink/catalog112688
McKusiak, Victor A (Ed). Baltimore, MD: Johns Hopkins University Press , 1998. 12th Ed.
Website
http://www.ncbi.nlm.nih.gov/omim
Material Type
Book
Call Number
REF GI 20 MCK 1998 VOL 2
Availability
2 copies, 2 available
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.
Website
http://www.ncbi.nlm.nih.gov/omim
Website Notes
The database corresponds to the print publication.
Author
McKusiak, Victor A (Ed).
Edition
12th Ed.
Place of Publication
Baltimore, MD
Publisher
Johns Hopkins University Press
Publication Date
1998
Physical Description
Hardcover
Subject
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
Call Number
REF GI 20 MCK 1998 VOL 2

Copies

Copy 1 BC Children's and Women's Study and Learning Commons REF Available
Copy 2 BC Children's and Women's Study and Learning Commons REF Available
Websites
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Mendelian inheritance in man: A catalog of human genes and genetic disorders: Vol 3

https://cwslc.andornot.com/en/permalink/catalog112689
McKusiak, Victor A (Ed). Baltimore, MD: Johns Hopkins University Press , 1998.
Website
http://www.ncbi.nlm.nih.gov/omim
Material Type
Book
Call Number
REF GI 20 MCK 1998 VOL 3
Availability
2 copies, 2 available
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.
Website
http://www.ncbi.nlm.nih.gov/omim
Website Notes
The database corresponds to the print publication.
Author
McKusiak, Victor A (Ed).
Place of Publication
Baltimore, MD
Publisher
Johns Hopkins University Press
Publication Date
1998
Physical Description
Hardcover
Subject
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
Call Number
REF GI 20 MCK 1998 VOL 3

Copies

Copy 1 BC Children's and Women's Study and Learning Commons REF Available
Copy 2 BC Children's and Women's Study and Learning Commons REF Available
Websites
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Inherited cardiomyopathies: Genetics and gene-environment interactions

https://cwslc.andornot.com/en/permalink/catalog113271
van Spaendonck-Zwarts, Karin. Amsterdam: University of Groningen , 2013. Published thesis.
Material Type
Book
Call Number
REF FD 200 SPA 2013
Availability
1 copy, 1 available
Author
van Spaendonck-Zwarts, Karin
Edition
Published thesis
Place of Publication
Amsterdam
Publisher
University of Groningen
Publication Date
2013
Physical Description
Paperback: 246 pages
Subject
Genetics
Heart/Heart Diseases. Cardiology
UBC MD Undergrad
Language
English
Material Type
Book
Call Number
REF FD 200 SPA 2013

Copies

Copy 1 BC Children's and Women's Study and Learning Commons REF Available
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Genes & development

https://cwslc.andornot.com/en/permalink/catalog119625
Cold Spring Harbor Laboratory., Genetical Society (Great Britain). Cold Spring Harbor, N.Y.: Cold Spring Harbor Laboratory Press , 1987 - Present.
Website
PHSA Users:
http://search.ebscohost.com/login.aspx?direct=true&db=edspub&AN=edp30646&site=pfi-live
UBC Users:
http://gw2jh3xr2c.search.serialssolutions.com/?SS_searchTypeJournal=yes&V=1.0&L=GW2JH3XR2C&S=AC_T_B&C=Genes+%26+Development
Material Type
Serial
Website
PHSA Users:
http://search.ebscohost.com/login.aspx?direct=true&db=edspub&AN=edp30646&site=pfi-live
UBC Users:
http://gw2jh3xr2c.search.serialssolutions.com/?SS_searchTypeJournal=yes&V=1.0&L=GW2JH3XR2C&S=AC_T_B&C=Genes+%26+Development
Alternate Title
Genes and development
Corporate Author
Cold Spring Harbor Laboratory.
Genetical Society (Great Britain)
Place of Publication
Cold Spring Harbor, N.Y.
Publisher
Cold Spring Harbor Laboratory Press
Publication Date
1987 - Present
ISSN
0890-9369
Language
English
Material Type
Serial
Frequency
Biweekly
Holdings
CFRI/Study & Learning Commons - Print: v.8:4-v.17:17 (1994-2003).
Missing: v.8:6 (1994); v.9:5 (1995); v.13:21 (1999); v.14:22 (2000); v.15:13,16,18,24 (2001); v.16:1,6 (2002).
Online: 1987 to present.
Websites
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Challenging genetic determinism: New perspectives on the gene in its multiple environments

https://cwslc.andornot.com/en/permalink/catalog113270
Maheu, Louis, Macdonal, Roderick A. (Eds). Kingston, ON: McGill-Queen's University Press , 2011.
Material Type
Book
Call Number
REF GI 200 MAC 2011
Availability
2 copies, 2 available
Advances in genetic research have captured the attention of the media and the public through reports about genetically caused diseases and behaviours. However, all too often the coverage of scientists' innovations has implied that genetic factors alone are responsible for effects ranging from perso…
Author
Maheu, Louis
Macdonal, Roderick A. (Eds)
Place of Publication
Kingston, ON
Publisher
McGill-Queen's University Press
Publication Date
2011
Physical Description
319 pages
Subject
Personality
Genetics
UBC MD Undergrad
Abstract
Advances in genetic research have captured the attention of the media and the public through reports about genetically caused diseases and behaviours. However, all too often the coverage of scientists' innovations has implied that genetic factors alone are responsible for effects ranging from personality and sexual preferences to morbid obesity and intellectual disabilities. Challenging Genetic Determinism argues that hypotheses cannot be based solely on genetic factors but must take into account the context in which these factors occur.
ISBN
978-0773538139
Language
English
Material Type
Book
Call Number
REF GI 200 MAC 2011

Copies

Copy 2 BC Children's and Women's Study and Learning Commons REF Available
Copy 1 BC Children's and Women's Study and Learning Commons REF Available
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Investigation of methylation and gene expression in placenta of pregnancies conceived by assisted reproductive technology (ART)

https://cwslc.andornot.com/en/permalink/catalog113947
Sakian, Sina. [Vancouver, BC?]: University of British Columbia , 2011.
Website
http://hdl.handle.net/2429/31191
Material Type
Thesis
Call Number
Thesis Shelf
With the increasing use of assisted reproductive techniques (ART) every year, concerns have been raised regarding the possible effect these procedures have on the health of the children procured by them. Although patients born via ART are usually healthy, studies have associated these procedures wi…
Website
http://hdl.handle.net/2429/31191
Author
Sakian, Sina
Place of Publication
[Vancouver, BC?]
Publisher
University of British Columbia
Publication Date
2011
Subject
Faculty of Medicine
Theses
Abstract
With the increasing use of assisted reproductive techniques (ART) every year, concerns have been raised regarding the possible effect these procedures have on the health of the children procured by them. Although patients born via ART are usually healthy, studies have associated these procedures with increased incidence of low birth weight (LBW), chromosomal abnormalities, birth defects and imprinting disorders. No study has proposed a single defined cause for any of these defects in ART infants, however it is believed that they may be due to both the invasiveness of ART and to genetic defects that are at the root of the infertility in the parents. In this study, changes in the methylation of the H19 and IGF2 imprinting control region 1 (ICR1) were investigated for both ART (n=92) and naturally conceived controls (n=19) using pyrosequencing.
Language
English
Material Type
Thesis
Call Number
Thesis Shelf
Websites
Show Less

Human molecular genetics

https://cwslc.andornot.com/en/permalink/catalog119692
Website
PHSA Users:
http://search.ebscohost.com/login.aspx?direct=true&db=edspub&AN=edp33596&site=pfi-live
UBC Users:
http://gw2jh3xr2c.search.serialssolutions.com/?SS_searchTypeJournal=yes&V=1.0&L=GW2JH3XR2C&S=AC_T_M&C=human+molecular+genetics
Place of Publication
Oxford, England
Publisher
Oxford University Press
Publication Date
1992 - Present
ISSN
0964-6906
Language
English
Material Type
Serial
Frequency
Bimonthly
Holdings
CFRI/Study & Learning Commons - Print: v.3:1-v.8:13 (1994-1999); v.9:15-16 (2000); v.10:1-16,19,20,22-25 (2001); v.11:17,20 (2002); v.12:13 (2003).
Missing: v.4:8 (1995); v.5:8 (1996); v.6:8,10 (1997).
Online: 1992 to present.
Websites
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American journal of human genetics

https://cwslc.andornot.com/en/permalink/catalog114382

Smith's recognizable patterns of human malformation

https://cwslc.andornot.com/en/permalink/catalog109164
Jones, Kenneth Lyons. Philadelphia, PA: Elsevier Saunders , 2006. 6th ed.
Material Type
Book
Call Number
REF AB 20 JON 2006
Availability
2 copies, 2 available
Table of Contents; 1. Recognizable Patterns of Malformation; A. Chromosomal Abnormality Syndromes; Down Syndrome--Trisomy 18 Syndrome --Trisomy 13 Syndrome --Trisomy 8 Syndrome Trisomy 9 --Mosaic Syndrome --Triploidy Syndrome and Diploid/Triploid Mixoploidy Syndrome --Deletion 3p Syndrome Duplicati…
Author
Jones, Kenneth Lyons
Edition
6th ed.
Place of Publication
Philadelphia, PA
Publisher
Elsevier Saunders
Publication Date
2006
Physical Description
Hardcover: 954 p.
Subject
Medical Encyclopedias
Birth Defects. Congenital Abnormalities
UBC MD Undergrad
Abstract
Table of Contents
1. Recognizable Patterns of Malformation
A. Chromosomal Abnormality Syndromes
Down Syndrome--Trisomy 18 Syndrome --Trisomy 13 Syndrome --Trisomy 8 Syndrome Trisomy 9 --Mosaic Syndrome --Triploidy Syndrome and Diploid/Triploid Mixoploidy Syndrome --Deletion 3p Syndrome Duplication 3q Syndrome Deletion 4p Syndrome --Deletion 4q Syndrome --Deletion 5p Syndrome --Deletion 9p Syndrome --Duplication 10q Syndrome --Aniridia–Wilms Tumor Association --Deletion 11q Syndrome --Deletion 13q Syndrome --Duplication 15q Syndrome-- Deletion 18p Syndrome-- Deletion 18q Syndrome --Cat-Eye Syndrome --XYY Syndrome --XXY Syndrome, Klinefelter Syndrome XXXY and XXXXY Syndromes XXX and --XXXX Syndromes XXXXX Syndrome --45X Syndrome
--
B. Very Small Stature, Not Skeletal Dysplasia
Brachmann–De Lange Syndrome --Rubinstein-Taybi Syndrome --Russell-Silver Syndrome --Short Syndrome --3-M Syndrome --Mulibrey Nanism Syndrome --Dubowitz Syndrome --Bloom Syndrome --Johanson-Blizzard Syndrome --Seckel Syndrome Hallermann-Streiff Syndrome
C. Moderate Short Stature, Facial, +/- Genital
Smith-Lemli-Opitz Syndrome --Kabuki Syndrome --Williams Syndrome Noonan Syndrome --Costello Syndrome Cardio-Facio-Cutaneous (CFC)Syndrome --Aarskog Syndrome --Robinow Syndrome --Opitz G/BBB Syndrome --Floating-Harbor Syndrome
D. Senile-Like Appearance
Progeria Syndrome Wiedemann-Rautenstrauch Syndrome --Werner Syndrome --Cockayne Syndrome Rothmund-Thomson Syndrome
E. Early Overgrowth with Associated Defects
Fragile X Syndrome --Sotos Syndrome --Weaver Syndrome --Marshall-Smith Syndrome --Beckwith-Wiedemann Syndrome --Simpson-Golabi-Behmel Syndrome
F. Unusual Brain and/or Neuromuscular Findings With Associated Defects
Amyoplasia Congenita Disruptive Sequence Distal Arthrogryposis Syndrome, Type 1 -- Pena-Shokeir Phenotype --Cerebro-Oculo-Facio-Skeletal (COFS) Syndrome --Lethal Multiple Pterygium Syndrome --Neu-Laxova Syndrome --Restrictive Dermopathy Meckel-Gruber Syndrome --Pallister-Hall Syndrome --X-Linked Hydrocephalus Spectrum Hydrolethalus Syndrome --Walker-Warburg Syndrome Miller-Dieker Syndrome Smith-Magenis Syndrome Ataxia-Telangiectasia Syndrome Menkes Syndrome 22q13 Deletion Syndrome --Angelman Syndrome Prader-Willi Syndrome --Cohen Syndrome --Killian/Teschler-Nicola Syndrome 1p36 --Deletion Syndrome --Fryns Syndrome Zellweger Syndrome --Freeman-Sheldon Syndrome --Myotonic Dystrophy Syndrome --Schwartz-Jampel Syndrome --Marden-Walker Syndrome --Schinzel-Giedion Syndrome --Acrocallosal Syndrome --3C Syndrome --Hecht Syndrome
G. Facial Defects As Major Feature
Moebius Sequence --Blepharophimosis-Ptosis-Epicanthus Inversus Synrome --Robin Sequence --Cleft Lip Sequence --Van Der Woude Syndrome Frontonasal Dysplasia Sequence Fraser Syndrome --Melnick-Fraser Syndrome --Branchio-Oculo-Facial Syndrome --Charge Syndrome --Waardenburg Syndrome, Types I and II-- Treacher Collins Syndrome --Marshall Syndrome --Cervico-Oculo-Acoustic Syndrome
H. Facial-Limb Defects as Major Feature
Miller Syndrome --Nager Syndrome --Townes-Brocks Syndrome --Oral-Facial-Digital Syndrome --Mohr Syndrome --Deletion 22q11.2 --Oculodentodigital Syndrome --Lenz Microphthalmia Syndrome --Oto-Palato-Digital Syndrome, Type I --Oto-Palato-Digital Syndrome, Type II --Coffin-Lowry Syndrome X-Linked ?--Thalassemia/Mental Retardation (ATR-X) Syndrome --FG Syndrome Stickler Syndrome --Catel-Manzke Syndrome --Langer-Giedion Syndrome --Tricho-Rhino-Phalangeal Syndrome, Type I --Ectrodactyly–Ectodermal Dysplasia–Clefting Syndrome --Hay-Wells Syndrome Of Ectodermal Dysplasia --Roberts Syndrome
I. Limb Defect as Major Feature
Grebe Syndrome --Poland Sequence --Ulnar-Mammary Syndrome --Popliteal Pterygium Syndrome --Escobar Syndrome --Child Syndrome --Femoral Hypoplasia-Unusual Facies Syndrome --Tibial Aplasia-Ectrodactyly Syndrome --Adams-Oliver Syndrome --Holt-Oram Syndrome --Levy-Hollister Syndrome --Fanconi Pancytopenia Syndrome --Radial Aplasia–Thrombocytopenia Syndrome --Aase Syndrome
J. Osteochondrodysplasias
Achondrogenesis, Types IA And IB --Type II Achondrogenesis-Hypochondrogenesis --Fibrochondrogenesis Atelosteogenesis, Type I --Short Rib–Polydactyly Syndrome, Type I (Saldino- Noonan Type)-- Short Rib–Polydactyly Syndrome, Type II (Majewski Type) --Thanatophoric Dysplasia --Jeune Thoracic Dystrophy --Campomelic Dysplasia Achondroplasia Hypochondroplasia --Pseudoachondroplasia Acromesomelic-- Dysplasia Spondyloepiphyseal --Dysplasia Congenita Kniest Dysplasia-- Dyggve-Melchior-Clausen Syndrome --Spondylometaphyseal Dysplasia, Kozlowski Type Metatropic Dysplasia --Geleophysic Dysplasia --Chondroectodermal Dysplasia --Diastrophic Dysplasia X-Linked --Recessive Spondyloepiphyseal --Dysplasia Tarda Multiple Epiphyseal-- Dysplasia Metaphyseal Dysplasia, --Schmid Type Metaphyseal Dysplasia, --Mckusick Type Metaphyseal Dysplasia,-- Jansen Type Shwachman-Diamond Syndrome Chondrodysplasia Punctata, --X-Linked Dominant Type Autosomal Recessive --Chondrodysplasia Punctata Hypophosphatasia --Hajdu-Cheney Syndrome --Craniometaphyseal Dysplasia --Frontometaphyseal Dysplasia
K. Osteochondrodysplasia with Osteopetrosis
Osteopetrosis: Autosomal Recessive—Lethal --Sclerosteosis --Lenz-Majewski --Hyperostosis Syndrome Pyknodysostosis --Cleidocranial Dysostosis --Yunis-Varon Syndrome
L. Craniosynostosis Syndromes
Saethre-Chotzen Syndrome --Pfeiffer Syndrome --Apert Syndrome --Crouzon Syndrome FGFR3- Associated Coronal Synostosis Syndrome --Craniofrontonasal Dysplasia --Carpenter Syndrome --Greig Cephalopolysyndactyly Syndrome --Antley-Bixler Syndrome Baller-Gerold Syndrome
M. Other Skeletal Dysplasias
Multiple Synostosis Syndrome --Spondylocarpotarsal Synostosis Syndrome --Larsen Syndrome --Multiple Exostoses Syndrome --Nail-Patella Syndrome --Meier-Gorlin Syndrome --Leri-Weill Dyschondrosteosis --Langer Mesomelic Dysplasia --Acrodysostosis --Albright Hereditary Osteodystrophy
N. Storage Disorders
Generalized Gangliosidosis Syndrome, Type I (Severe Infantile Type) --Leroy I-Cell Syndrome --Pseudo-Hurler Polydystrophy Syndrome --Hurler Syndrome --Scheie Syndrome --Hurler-Scheie Syndrome --Hunter Syndrome --Sanfilippo Syndrome --Morquio Syndrome --Maroteaux-Lamy Mucopolysaccharidosis Syndrome (Mild, Moderate, and Severe Types) Mucopolysaccharidosis VII1. *-*--
O. Connective Tissue Disorders
Marfan Syndrome-- Beals Syndrome --Shprintzen-Goldberg Syndrome --Ehlers-Danlos Syndrome --Osteogenesis Imperfecta Syndrome, Type I --Osteogenesis Imperfecta Syndrome, Type II --Fibrodysplasia Ossificans Progressiva Syndrome
P. Hamartoses
Sturge-Weber Sequence --Neurocutaneous Melanosis Sequence --Linear Sebaceous Nevus Sequence --Incontinentia Pigmenti Syndrome --Hypomelanosis of Ito Tuberous Sclerosis Syndrome --Neurofibromatosis Syndrome --McCune-Albright Syndrome-- Klippel-Trenaunay Syndrome --Proteus Syndrome --Encephalocraniocutaneous Lipomatosis Maffucci Syndrome-- Peutz-Jeghers Syndrome --Bannayan-Riley-Ruvalcaba Syndrome --Hereditary Hemorragic Telangiectasia-- Multiple Endocrine Neoplasia, Type 2b --Gorlin Syndrome --Multiple Lentigines Syndrome --Goltz Syndrome Microphthalmia–Linear --Skin Defects Syndrome
Q. Ectodermal Dysplasias
Hypohidrotic Ectodermal Dysplasia Syndrome --Rapp-Hodgkin Ectodermal Dysplasia Syndrome --Tricho-Dento-Osseous Syndrome --Clouston Syndrome --GAPO Syndrome --Pachyonychia Congenita Syndrome --Xeroderma Pigmentosa Syndrome --Senter-Kid Syndrome
R. Enviornmental Agents
Fetal Alcohol Syndrome --Fetal Hydantoin Syndrome --Fetal Valproate Syndrome --Fetal Warfarin Syndrome --Fetal Aminopterin/Methotrexate --Syndrome Retinoic Acid Embryopathy --Fetal Varicella Syndrome --Hyperthermia-Induced Spectrum of Defects
S. Miscellaneous Syndromes
Coffin-Siris Syndrome --Börjeson-Forssman-Lehmann Syndrome --Alagille Syndrome-- Melnick-Needles Syndrome --Bardet-Biedl Syndrome --Mckusick-Kaufman Syndrome --Rieger Syndrome --Peters' Plus Syndrome --Toriello-Carey Syndrome --Mowat-Wilson Syndrome --Cerebro-Costo-Mandibular Syndrome --Jarcho-Levin Syndrome --Mandibuloacral Dysplasia --Berardinelli Lipodystrophy Syndrome-- Distichiasis-Lymphedema Syndrome
T. Miscellaneous Sequences
Laterality Sequences --Holoprosencephaly Sequence --Meningomyelocele, Anencephaly, Iniencephaly Sequences Occult Spinal Dysraphism Sequence Septo-Optic --Dysplasia Sequence Athyrotic --Hypothyroidism Sequence --DiGeorge Sequence --Klippel-Feil Sequence Early Urethral Obstruction Sequence-- Exstrophy of Bladder Sequence --Exstrophy of Cloaca Sequence --Urorectal Septum Malformation --Sequence Oligohydramnios Sequence --Sirenomelia Sequence-- Caudal Dysplasia Sequence-- Amnion Rupture Sequence --Limb–Body Wall Complex
U. Spectra Of Defects
Oculo-Auriculo-Vertebral Spectrum --Oromandibular-Limb Hypogenesis Spectrum --Congenital Microgastria-Limb Reduction Complex --Sternal Malformation-Vascular Dysplasia --Spectrum Monozygotic (MZ) Twinning And Structural Defects - General
V. Miscellaneous Associations
VATER Association MURCS Association
2. Approaches to Categorical Problems of Growth Deficiency, Mental Deficiency, Arthrogryposis, Ambiguous External Genitalia 3. Morphogenesis and Dysmorphogenesis 4. Genetics, Genetic Counseling, and Prevention 5. Minor Anomalies as Clues to More Serious Problems and Toward the Recognition of Malformation Syndromes 6. Normal Standards
Notes
New to this Edition
1,000 new full-color figures and photographs.
Includes updates for every disorder, with extensive new information on the molecular basis of malformations as well as new clinical information for many disorders.
Covers 16 additional commonly seen disorders, including Deletion 1p36 syndrome * Deleletion 22q13 syndrome * Meier-Gorlin Syndrome * Short Syndrome * 3-C Syndrome * GAPO Syndrome * Lenz Microphthalmia Syndrome * Muenke Craniosynostosis * Torriello-Carey Syndrome * Mandibulo-Acral Syndrome * Mowat-Wilson Syndrome * Ulnar-Mammary Syndrome * Kaufman-McKusick Syndrome * Smith-Maginess Syndrome * Wiedeman-Rautenstrauch Syndrome * and Shprintzen-Golberg Syndrome.
Presents a wealth of new Growth Charts, plus complete revisions to existing Growth Charts.
ISBN
978-0-7216-0615-6
Language
English
Material Type
Book
Call Number
REF AB 20 JON 2006

Copies

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