81. OUP USA: Genetic Disorders Of Human Sexual Development: Leonard Pinsky add to cart. genetic disorders of Human Sexual Development. Leonard Pinsky,Robert P. Erickson and R. Neil Schimke. 0195109074, hardback, 432 pages. http://www.oup.com/us/catalog/general/subject/Medicine/Genetics/?ci=0195109074&v

82. BioSpace Clinical Development: Aldurazyme Detail news about Aldurazyme Search BioSpace for news about Genzyme general Search BioSpace SearchBioSpace for news about genetic Disorder (misc) (genetic disorders). http://www.biospace.com/ccis/detail.cfm?ClinicalID=139104

83. Center For Jewish Genetic Disorders Welcome to the home of the Chicago Center for Jewish genetic disorders, a collaborative effort of the Jewish Federation of Metropolitan Chicago, Childrens Memorial Hospital, and the Illinois Jewish http://www.jewishgenetics.org/

The Jewish Genetic Disorders Program at Children's Memorial Hospital was established with the support of the Michael Reese Health Trust. Its purpose is to enhance awareness of genetic disorders which are more common among Ashkenazi Jews and to promote services for individuals and families affected by these disorders. To reach these goals, it offers educational programs, hospital and community based genetic screening, genetic counseling and other clinical services. The Jewish Genetic Disorders Program at Children's Memorial Hospital is supported in part by the Michael Reese Health Trust.

84. National Human Genome Research Institute - Specific Genetic Disorders Index to fact sheets on various types of cancers and other specific genetic disorders, published by the National Human Genome Research Institute. environmental insult. Other genetic disorders are http://www.genome.gov/10001204

Talking Glossary Frequently Asked Questions About Genetics Clinical Research Current Clinical Studies at NHGRI ... Genetic and Rare Diseases Information Center On Other Sites: Office of Rare Diseases : Resources and links from the National Institutes of Health. Health Specific Genetic Disorders Specific Genetic Disorders Specific Genetic Disorders Breast cancer Charcot-Marie-Tooth Colon cancer Cystic fibrosis ... National Cooperative Study of Hereditary Prostate Cancer in African Americans Rare and Orphan Diseases Duane Syndrome Trimethylaminuria Rare hereditary genetic disorders under investigation at NHGRI: ALPS - Autoimmune Lymphoproliferative Syndrome (ALPS) is an autoimmune disease characterized by a large number of white blood cells stored in the lymph nodes and spleen. Pallister-Hall Syndrome - An extremely rare genetic disorder that may be apparent at birth, it is known as a "multiple congenital anomaly syndrome." Resources: National Organization for Rare Disorders Summary - A brief description of the syndrome. Pallister-Hall Foundation Pallister-Hall Resources at NHGRI - Includes diagnostic criteria, bibliography, and clinical evaluation information.

85. Genetic Issues - General general (17 articles). Biotechnology The material. genetic disordersA genetic disorder is caused by an altered set of genes. The http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/hc_geneticissues_

86. Absolutely The Best Set Of Resources For Patent Attorneys & Patent Agents; Trade Epilepsy; Extremities Limbs; Eyes; Family Health. Fertility; Fitness; GeneralHealth; genetic disorders; Glands; Growth; Head Brain; Heart; Hypnosis; Infection;Immune http://www.piperpat.co.nz/utility/health/genetic.html

Bottom of Page Home Worldwide List Site Map ... Add/Submit/Modify a Link PIPERS PIPERS Virtual Intellectual Property Library Medical Reference: Genetic Disorders This page is regularly updated. If you find that any of the links are not working, or if you would like to suggest some useful new links, please let us know so that we can modify the listing. - Click here to Email us Please Note: Updates to this web site are on temporary hold, while some major maintenance is being performed. We apologise for any inconvenience. Genetic Links Alliance of Genetic Support Groups American Society of Human Genetics Cystic Fibrosis Foundation Environmental Mutagen Society ... OMIM - Online Mendelian Inheritance in Man: genetic database. National Human Genome Research Institute OMIM - Online Mendelian Inheritance in Man: genetic database. TGAC - The Genome Action Coalition: genetic diseases. National Down Syndrome Society National Neurofibromatosis Foundation National Tuberous Sclerosis Association Society for the Study of Reproduction ... Teratology Society - birth defects research. Health Topics Addiction ADD / ADHD Aging Allergy ... General Health Genetic Disorders Glands Growth Heart Hypnosis ... Return to the PIPERS Return to the PIPERS Home Page For information contact PIPERS, Patent Attorneys

87. Genetic Disorder Definition Of Genetic Disorder. What Is Genetic Disorder? Meani Legend Synonyms Related Words Antonyms. Some words with genetic disorder in the definition Previous, general Dictionary Browser, Next. http://www.thefreedictionary.com/genetic disorder

Dictionaries: General Computing Medical Legal Encyclopedia Genetic disorder Word: Word Starts with Ends with Definition Noun genetic disorder - a disease or disorder that is inherited genetically congenital disease genetic abnormality genetic defect genetic disease ... disease - an impairment of health or a condition of abnormal functioning monogenic disease monogenic disorder - an inherited disease controlled by a single pair of genes polygenic disease polygenic disorder - an inherited disease controlled by several genes at once achondroplasia achondroplasty chondrodystrophy osteosclerosis congenita - an inherited skeletal disorder beginning before birth; cartilage is converted to bone resulting in dwarfism abetalipoproteinemia - a rare inherited disorder of fat metabolism; characterized by severe deficiency of beta-lipoproteins and abnormal red blood cells (acanthocytes) and abnormally low cholesterol levels inborn error of metabolism - any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism congenital megacolon Hirschsprung's disease - congenital condition in which the colon does not have the normal network of nerves; there is little urge to defecate so the feces accumulate and cause megacolon

88. General Public: Genetic Disorder Research At Genzyme return to general Public main page. Gaucher Disease Vulgaris. Other GeneticDisorders Research being conducted at Genzyme. Introduction. Treatment http://www.genzyme.com.au/public/genetic_research_public.htm

Mucopolysaccharidosis 1 Fabry Disease Pompe Disease Cystic Fibrosis ... Pemphigus Vulgaris Other Genetic Disorders Research being conducted at Genzyme Introduction Treatment for the following genetic disorders is currently being investigated by Genzyme and various collaborators. Mucopolysaccharidosis Type 1 Top of Page Fabry Disease The Fabry Support and Information Group (USA) Fabry - Online Mendelian Inheritance in Man (National Institute of Health, USA) Top of Page Pompe Disease Top of Page Cystic Fibrosis Top of Page Hereditary Angioedema Top of Page Pemphigus Vulgaris Top of Page Need more information Top of Page Next Page Genzyme Australasia, 1999-2000. Last updated 23 June 2000 05:54 am Website designed, built and maintained by Genzyme Australasia Pty Ltd and Labyrinthos Internet Agency

89. Profiles.html Cooley s Anemia Foundation 12909 26th Avenue, Suite 203 Flushing, New York 11354800-522-7222 or 718/321-2873. general genetic Disorder Resource Organizations. http://www.accessexcellence.org/AB/WYW/wkbooks/PAP/profiles.html

Genetic Disorder Profiles and Organizations Adenosine Deaminase Deficiency (ADA) Affects: 1 out of 100,000 Type of trait: autosomal recessive Chromosome on which gene is located: Test applications: prenatal, carrier Children with this disease have a defective immune system, and are susceptible to all types of infections. Gene therapy is being tested as a potential cure. Cystic Fibrosis Affects: 1 out of 2,500 Caucasians; 1 out of 90,000 African Americans Type of trait: autosomal recessive Chromosome on which gene is located: Test applications: carrier, prenatal, newborn Cystic fibrosis results in the secretion of a thick mucous in the lungs that blocks the flow of air. The disorder also causes digestive problems, salty-tasting skin, and susceptibility to respiratory tract infections. Cystic fibrosis is progressive and requires extensive medical treatment with antibiotics and digestive enzymes . It also requires daily respiratory therapy. Left untreated, most children will die by the time they are four or five. A special diet, daily doses of antibiotics to prevent infection, and other treatments can extend life expectancy to adolescence or later. About 40% of people with cystic fibrosis live to the age of 30. Resource Organization: National Cystic Fibrosis Foundation 6931 Arlington Road Bethesda, MD 20814

90. Genetic Disorders -- Affective Spectrum Disorder be related to the same genetic abnormality, suggests issue of The Archives of GeneralPsychiatry that this socalled affective spectrum disorder (ASD) grouping http://my.webmd.com/content/article/60/67242.htm?z=1820_00000_0000_f1_01

91. Disorder Guide Search Tips GeneTestsGeneClinics no longer requires registration for general usersof its Web resources. To search for genetic disorder information, click on http://genome.gsc.riken.go.jp/hgmis/posters/chromosome/diseaseindex.html.20

The U.S. Department of Energy Biological and Environmental Research program funds this site. Genetic Disorder Information on the Web Information furnished by resources described in this guide should not be used as a substitute for consultation with a physician. Questions or concerns regarding a medical condition should be discussed with a professional, such as a physician, genetic counselor, or medical geneticist. This guide to genetic disorder resources includes portals that direct users to medical information produced and maintained by third-party sources. Even though some Web sites institute review and selection policies to regulate the quality of their links, users must be able to judge the legitimacy of material they encounter on the Web. See the Evaluation Guide for some tips and links to resources for evaluating Web sites. Types of resources described in this guide: Overviews of Genetic Disorders Gateways to Medical Information Support Groups and Organizations Bibliographic Databases ... Clinical Trials Resources See the Sample Profiles to access case studies that serve as examples of the kinds of information you can find using the resources described in this guide.

92. GENERAL GENETIC SERVICES general genetic services include clinical genetic evaluations, genetic counseling geneticcounseling has been defined as a of heredity to the disorder and to http://med.usd.edu/som/genetics/curriculum/3CGENER3.htm

(Lesson 3- Table of Contents) (Next) (Glossary) GENERAL GENETIC SERVICES General genetic services include clinical genetic evaluations, genetic counseling, laboratory diagnostic services, and services provided through specialty clinics for individuals with specific genetic conditions such as PKU, muscular dystrophy, hemophilia, etc. GENETIC COUNSELING Genetic counseling has been defined as a communication process intended to help affected individuals and/or their families to: comprehend the medical facts (diagnosis, prognosis and management); understand the contribution of heredity to the disorder and to its recurrence risks in specific relatives; understand the options available for dealing with this recurrence risk (such as prenatal diagnosis, reproductive alternatives); choose the course of action most compatible with family goals, values and religious beliefs; make the best possible adjustment to the condition and its implications The first step in the genetic counseling process is to establish an accurate diagnosis. This involves the collection and review of medical records and family history information. If the patient is a child, most centers also request pregnancy and delivery records and information about the child's psychomotor development. These are usually collected prior to the clinic visit through the use of questionnaires or through a phone interview. CLINICAL EVALUATION The clinical evaluation is performed by a clinical geneticist and involves a detailed physical examination. The clinical geneticist will document any unusual physical features (major or minor malformations), developmental delays and neurologic deficits. A number of different measurements to determine such things as the distance between the eyes, the length of the limbs and the upper and lower body segments may be needed. In many instances, it may also be necessary to examine a child's parents and sibs to look for subtle signs of the condition. A clinical photograph may be obtained.

93. Genetic&Bipolar Disorder online resources about bipolar disorder in general, about the genetics of bipolardisorder in particular, and about human genetics and genetic medicine http://www.fgec.org/genetic&bipolar_disorder.htm

Our Mission Board Staff ... Disorder Genetics and Bipolar Disorder (Manic Depressive Illness A suggestion for the reader: This publication discusses the genetics of bipolar disorder, a serious mental illness. The impact of this disorder can be overwhelming. If you have been diagnosed recently with bipolar disorder, or if a family member or friend has been diagnosed recently, the material in this publication may not be most helpful to you at this time. You may need to deal with basic medical and emotional issues first. Many resources are available to help you with those issues; some on-line resources are listed at the end of this document. You might want to consult those resources before you read this document. Table of Contents: (Hint: You may click on any topic below or scroll through the entire document.) 1. What is genetics? 2. What is genetic counseling? 3. Genetic Counseling: A Brief Case Study 4. What is bipolar disorder? ... 16. Additional on-line resources 1. What is genetics? When most of us hear or read the word genetics we likely think about topics that make the news: DNA, genes, chromosomes, genetic disease, maybe even cloning. Genetics includes all of those topics, but at its heart, genetics is the study of biological variation. In the living world, variation is the rule rather than the exception. All you have to do to confirm that fact is look around you at the great variety of living things and the many individual differences within any group of organisms, including human beings. Human genetics deals with the biological basis of human variation. In addition to variation in traits such as height or eye color, some human genetic variation appears as disease. Genetic medicine focuses on those variations.

94. Genetic Disorders We Test For - Mississippi State Department Of Health genetic disorders We Test For. A complete list of conditions. Generaldisorders. Argininemia (ARG); Biotinidase Deficiency (BIO); Congenital http://www.msdh.state.ms.us/msdhsite/index.cfm/13,1018,101,html

Governor Board of Health State Health Officer Administration ... Women's Health Genetic Disorders We Test For A complete list of conditions General Disorders Argininemia (ARG) Biotinidase Deficiency (BIO) Congenital Adrenal Hyperplasia (CAH) Cystic Fibrosis (CF) Galactosemia (GAL) Hemoglobinopathies (HGB) Hypothyroidism (TSH) Amino Acid Disorders Argininosuccinic Aciduria (ASA Lyase Deficiency) Carbamoylphosphate Synthetase Deficiency (CPS Deficiency) Citrullinemia (ASA Synthetase Deficiency) Homocystinuria (HCys) Hyperammoninemia, Hyperornithinemia, Homocitrullinemia Syndrome (HHH) Hypermethioninemia (MGT) Maple Syrup Urine Disease (MSUD) 5-Oxoprolinuria (Pyroglutamic aciduria) Phenylketonuria (PKU) Tyrosinemia Type I (TYR I) Tyrosinemia Type II (TYR II) Organic Acid Disorders 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (HMG) Glutaric Aciduria Type I (GA I) Isobutyryl-CoA Dehydrogenase Deficiency Isovaleric Acidemia (IVA) Malonic Aciduria 2-Methylbutyryl-CoA Dehydrogenase Deficiency 3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC) 3-Methylglutaconyl-CoA Hydratase Deficiency (3MGH) Methylmalonic Acidemia (MMA) Mitochondrial Acetoacetyl-CoA Thiolase Deficiency Propionic Acidemia (PPA) Multiple CoA Carboxylase Deficiency (MCCD) Fatty Acid Oxidation Disorders Carnitine/Acylcarnitine Translocase Deficiency (Translocase) Carnitine Palmitoyltransferase I Deficiency (CPT I) Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD) Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) Multiple Acyl-CoA Dehydrogenase Deficiency (MADD or GA II)

95. More In UK Directory: Personal: Genetic Diseases on a wide variety of genetic diseases includes general guides and genetic Disordersgenetic Diseases Information Support Help GIG Gene The genetic Interest http://www.ukdirectory.co.uk/Dir/?Category=705563,705564,42313,670342,924181

96. Psychiatric & Neurodevelopmental Genetics Unit: Psychiatric and Neurodevelopmental Genetics Unit (PNGU clinicians at MassachusettsGeneral Hospital, McLean and neurodevelopmental disorders including Gilles de http://pngu.mgh.harvard.edu/

PNGU Mission Identify the role of genetic factors in the etiology of psychiatric, neurodevelopmental, and behavioral disorders. Examine the contributions of non-genetic or environmental factors, as well as risk and protective factors. Develop approaches to gain a more complete understanding of the expression of these disorders. Directors The Psychiatric and Neurodevelopmental Genetics Unit (PNGU) directors include: David Pauls, PhD, Director Pamela Sklar MD, PhD, Associate Director Significance of Genetics Research In addition to gaining information about how psychiatric disorders are expressed, we are interested in identifying familial patterns of inheritance as well as susceptibility genes. We invite family participation and ask for DNA samples, which are typically obtained through a blood sample. Knowledge gained from this kind of work will help investigators in the identification of genes related to these disorders. Once located, we may begin to understand how the specific genes operate, why a particular disorder occurs, and how the disorder is transmitted in families. Such knowledge is vital to the development of treatment and prevention strategies. Welcome The Psychiatric and Neurodevelopmental Genetics Unit (PNGU) was inaugurated in 2001 for the express purpose of enhancing the application of genomics to psychiatric and neurodevelopmental disease within the extended Harvard community of researchers.

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