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

Website

http://hdl.handle.net/2429/9705

Author

Kirkpatrick, Gordon

Place of Publication

[Vancouver, BC?]

Publisher

University of British Columbia

Publication Date

2009

Subject

Faculty of Medicine

Theses

Abstract

Male carriers of chromosomal abnormalities (CA) are more frequent in the infertile population. These men have higher levels of sperm aneuploidy due to the aberrant segregation of the chromosomes involved in the abnormality. The presence of a CA may also influence the segregation of other chromosomes, in a process known as in interchromosomal effect (ICE). The behaviour of the CA during meiosis may account for the infertility observed in this population. We studied chromosome segregation, ICE and meiotic defects in a variety of CA. In carriers of CA, we determined the segregation patterns of chromosomes involved in the abnormality.

Language

English

Material Type

Thesis

Call Number

Thesis Shelf

Website

http://hdl.handle.net/2429/1395

Author

Nguyen, Tuan-Anh T

Place of Publication

[Vancouver, BC?]

Publisher

University of British Columbia

Publication Date

2008

Subject

Faculty of Medicine

Theses

Abstract

Due to the ?flare effect? associated with the flare protocol, variation in the degree of follicular maturation during stimulation may result in differences in follicle response as compared to the luteal protocol which is based on maximal pituitary suppression and synchronization of follicular maturation. In this study, besides other methods, Anti-Mullerian Hormone (AMH), a novel marker for ovarian reserve, was used as a tool to evaluate the ovarian responsiveness to stimulation.

Language

English

Material Type

Thesis

Call Number

Thesis Shelf

Website

http://hdl.handle.net/2429/945

Author

Tang, Steven Siu Yan

Place of Publication

[Vancouver, BC?]

Publisher

University of British Columbia

Publication Date

2008

Subject

Faculty of Medicine

Theses

Abstract

Intracytoplasmic sperm injection (ICSI) has been a successful assisted reproductive technique for men with severe male-factor infertility. However, ICSI requires the subjective selection of normal looking sperm, which does not preclude the transmission of genetically abnormal sperm. Correlation between abnormal sperm morphology and chromosomal abnormalities has been suggested but not been conclusive and less is known about the connection between sperm morphology and DNA integrity. Sperm morphology will be evaluated on its ability to identify the level of chromosomal abnormalities or fragmented DNA in sperm. To further focus this investigation on sperm morphology, men with infertility isolated to abnormal sperm morphology (isolated teratozoopsermia) are examined.

Language

English

Material Type

Thesis

Call Number

Thesis Shelf

Website

http://hdl.handle.net/2429/1228

Author

Ferguson, Kyle Akira

Place of Publication

[Vancouver, BC?]

Publisher

University of British Columbia

Publication Date

2008

Subject

Faculty of Medicine

Theses

Abstract

While the introduction of intracytoplasmic sperm injection (ICSI) has revolutionized the treatment of male infertility, concerns have been raised regarding the risk of chromosomal abnormalities in pregnancies derived from ICSI. Studies on sperm from infertile men have suggested that this population may produce higher rates of aneuploid sperm. Thus, we hypothesized that defects in early meiotic events may contribute to both male infertility and the production of aneuploid sperm.

Language

English

Material Type

Thesis

Call Number

Thesis Shelf

Website

http://hdl.handle.net/2429/32719

Author

Hatakeyama, Chiho

Place of Publication

[Vancouver, BC?]

Publisher

University of British Columbia

Publication Date

2007

Subject

Faculty of Medicine

Theses

Abstract

In contrast to the success of ICSI in treating male infertility, concerns have been raised about the health outcomes of the children conceived through this procedure. Cohort studies have shown that the ICSI population has an increase in low birth weight (LBW), birth defects, chromosomal abnormalities, and imprinting disorders. However, the underlying causes remain unknown.

Language

English

Material Type

Thesis

Call Number

Thesis Shelf

Website

http://hdl.handle.net/2429/30974

Author

Ota, Takayo

Place of Publication

[Vancouver, BC?]

Publisher

University of British Columbia

Publication Date

2006

Subject

Faculty of Medicine

Theses

Abstract

Homeobox genes, which code for families of transcription factors, act at the top of genetic hierarchies. HOX genes specify positional identity during development, and in adult tissues, regulate differentiation and proliferation. Most ovarian carcinomas are derived from the ovarian surface epithelium (OSE). In contrast to other carcinomas, OSE differentiates further with neoplastic progression and acquires Mtillerian duct-derived epithelial properties. I tested the hypothesis that growth and differentiation in ovarian carcinogenesis are regulated by HOX genes.

Language

English

Material Type

Thesis

Call Number

Thesis Shelf

Website

http://hdl.handle.net/2429/32234

Author

Press, Joshua Zephyr

Place of Publication

[Vancouver, BC?]

Publisher

University of British Columbia

Publication Date

2006

Subject

Faculty of Medicine

Theses

Abstract

Loss of BRCA1/BRCA2 function through genetic or epigenetic mechanisms is common in epithelial ovarian carcinomas (EOC), but because there are multiple potential mechanisms of loss, the overall frequency is unknown. We characterized loss of BRCA1/BRCA2 at the DNA, RNA and protein level from an unselected, consecutive series 49 non-mucinous, invasive EOC. BRCAl-loss was found in 21/49 tumors (43%).

Language

English

Material Type

Thesis

Call Number

Thesis Shelf

Website

http://hdl.handle.net/2429/18509

Author

Choi, Jung-Hye

Place of Publication

[Vancouver, BC?]

Publisher

University of British Columbia

Publication Date

2006

Subject

Faculty of Medicine

Theses

Abstract

Ovarian cancer is the sixth most common cancer and the fifth leading cause of cancer-related death among women in developed countries. There is increasing evidence suggesting that the hormonal environment of the normal ovarian surface epithelium (OSE) and ovarian epithelial cancer (OEC) cells is associated with the development and progression of ovarian cancer. Exposure to excess gonadotropins and leptin, related to menopause or infertility therapy and obesity, respectively, has been implicated as a risk factor for ovarian cancer.

Language

English

Material Type

Thesis

Call Number

Thesis Shelf

Website

http://hdl.handle.net/2429/16403

Author

Devarakonda, Rajashree M.

Place of Publication

[Vancouver, BC?]

Publisher

University of British Columbia

Publication Date

2005

Subject

Faculty of Medicine

Theses

Abstract

Pre-eclampsia (PET) continues to contribute to maternal and perinatal morbidity and mortality. Management decisions include an evaluation of maternal risk, which is assisted by expert opinion-based guidelines, while not accounting for gestational age (GA) at diagnosis. We evaluated the feasibility of developing a severity score that can predict adverse maternal outcome.

Language

English

Material Type

Thesis

Call Number

Thesis Shelf

Website

http://hdl.handle.net/2429/16421

Author

Astanehe, Arezoo

Place of Publication

[Vancouver, BC?]

Publisher

University of British Columbia

Publication Date

2005

Subject

Faculty of Medicine

Theses

Abstract

n approximately 40% of ovarian cancers, PIK3CA, which encodes the p110α catalytic subunit of phosphatidylinositol 3-kinase (PI3K) is amplified. This amplification correlates with increased PIK3CA transcription, p110α protein expression, and PI3K activity. Moreover, PIK3CA is implicated as an oncogene in ovarian cancers. Another common mutation in ovarian cancer leads to loss of p53 function. Alterations to p53 are known to be involved in tumour development and progression.

Language

English

Material Type

Thesis

Call Number

Thesis Shelf

Website

http://hdl.handle.net/2429/15429

Author

Alasaly, Kadria A.

Place of Publication

[Vancouver, BC?]

Publisher

University of British Columbia

Publication Date

2004

Subject

Faculty of Medicine

Theses

Abstract

Pre-eclampsia, which is characterized by maternal hypertension, proteinuria, hypoperfusion of end organs and a systemic maternal innate inflammatory response, is a leading cause of maternal mortality and morbidity world-wide. When of early-onset, pre-eclampsia is associated with fetal intrauterine growth restriction (IUGR). IUGR can occur in isolation, so-called normotensive IUGR. What is poorly understood is that some women develop the maternal syndrome of pre-eclampsia whilst others have only the fetal syndrome (normotensive IUGR), despite the fact that the initiating event in both is believed to be reduced uteroplacental perfusion.

Language

English

Material Type

Thesis

Call Number

Thesis Shelf

Website

http://hdl.handle.net/2429/16195

Author

Gao, Haijun

Place of Publication

[Vancouver, BC?]

Publisher

University of British Columbia

Publication Date

2004

Subject

Faculty of Medicine

Theses

Abstract

The association between subsets of male infertility, oligoasthenoteratozoospermia (OAT), obstructive azoospermic (OA), non-obstructive azoospermia (NOA), and increased risk of having chromosomal abnormalities in the sperm has not been investigated. Chromosomal aneuploidy in sperm will be systematically investigated by standard methods with large sample sizes required to present significance.

Language

English

Material Type

Thesis

Call Number

Thesis Shelf

Website

http://hdl.handle.net/2429/14664

Author

Fuchisawa, Akiko

Place of Publication

[Vancouver, BC?]

Publisher

University of British Columbia

Publication Date

2003

Subject

Faculty of Medicine

Theses

Abstract

Preeclampsia is a pregnancy-specific condition, and it still remains one of the most common causes of maternal mortality in the developed world. Although the exact cause of preeclampsia has not been identified, it is most widely accepted that preeclampsia results from incomplete placentation. Interestingly, normotensive intrauterine growth restriction also shows the same defect of placentation. In preeclampsia, the maternal syndrome develops from a number of alternative pathways leading to uteroplacental mismatch and, consequently, the release of endothelium-activating factors. This research is focused on neutrophil activation and the hypothesis for this research was that maternal neutrophils and monocytes are inappropriately activated in preeclampsia but not in normotensive intrauterine growth restriction.

Language

English

Material Type

Thesis

Call Number

Thesis Shelf

Website

http://hdl.handle.net/2429/14957

Author

Zhou, Junshan

Place of Publication

[Vancouver, BC?]

Publisher

University of British Columbia

Publication Date

2003

Subject

Faculty of Medicine

Theses

Abstract

Remodeling of the endometrial extracellular matrix, which occurs during the early stages of pregnancy in the human, is mediated by the temporal expression of urokinase-type plasminogen activator (uPA) and matrix metalloproteinases (MMP) in both the maternal and fetal compartments and counterbalanced by their respective endogenous inhibitors, plasminogen activator inhibitor (PAI-1) and tissue inhibitors of metalloproteinases (TIMPs) in both an autocrine and paracrine manner. To date, the factors capable of regulating the expression of uPA and MMP proteolytic systems at the maternal-fetal interface remain poorly characterized.

Language

English

Material Type

Thesis

Call Number

Thesis Shelf

Website

http://hdl.handle.net/2429/13688

Author

Choi, Kyung-Chul

Place of Publication

[Vancouver, BC?]

Publisher

University of British Columbia

Publication Date

2001

Subject

Faculty of Medicine

Theses

Abstract

The common epithelial ovarian tumors appear to arise from the ovarian surface epithelium (OSE), which is a simple squamous-to-cuboidal meso^helium covering the ovary. The exact mechanism of ovarian tumorigenesis is not well known even though this disease is the most frequent cause of cancer death in gynecological malignancies. Repeated ovulation contributes to neoplastic transformation of OSE, indicating that the process of healing ruptured OSE may contribute to the disease. Therefore, it has been hypothesized that endocrine and autocrine factors may influence the occurrence of ovarian tumors in women.

Language

English

Material Type

Thesis

Call Number

Thesis Shelf

Website

http://hdl.handle.net/2429/6844

Author

Menzies, Jennifer Marie

Place of Publication

[Vancouver, BC?]

Publisher

University of British Columbia

Publication Date

2009

Subject

Faculty of Medicine

Theses

Abstract

This research responded to the need to define evidence-based criteria of maternal risk by developing a model - the Pre-eclampsia Integrated Estimate of RiSk (or PIERS) model ? that predicts a combined adverse maternal outcome (mortality and/or significant morbidities) within 48 hour of, and up to seven days after, admission with pre-eclampsia (study eligibility)

Language

English

Material Type

Thesis

Call Number

Thesis Shelf

Copies

Author

Belcher, Wendy Laura

Place of Publication

Thousand Oaks, Calif.

Publisher

Sage Publications

Publication Date

2009

Physical Description

Paperback, 351p.

Subjects

Writing

Education

Education - methods

Abstract

Wendy Laura Belcher's Writing Your Journal Article in Twelve Weeks: A Guide to Academic Publishing Success is a revolutionary approach to enabling academic authors to overcome their anxieties and produce the publications that are essential to succeeding in their fields. Each week, readers learn a particular feature of strong articles and work on revising theirs accordingly. At the end of twelve weeks, they send their article to a journal. This invaluable resource is the only guide that focuses specifically on publishing humanities and social science journal articles.

ISBN

9781412957014

Language

English

Material Type

Book

Call Number

AI 905 BEL 2009

Copies

Author

Tintinalli, Judith E.

Stapczynski, J. Stephan

Ma, O. John et al

Edition

6th

Place of Publication

New York, NY

Publisher

McGraw-Hill Education

Publication Date

2003

Physical Description

Hardcover, 2016pp

Subject

Emergency Medicine

Abstract

Covers the gamut of emergency medicine practice in brief, clinically focused chapters. New to this edition are chapters on bioterroism and weapons of mass destruction, pharmacology of antimicrobials, antifungals, and antivirals, principles of drug interactions, endocarditis, and abdominal and pelvic pain in the non-pregnant patient. Pharmacologic considerations, tables of vital differential diagnoses, and observation criteria throughout are new features reflecting developments in this dynamic specialty.

ISBN

978-0071388757

Language

English

Material Type

Book

Call Number

REF EB 800 TIN 2003

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