81. Medical Genetics The Medical genetics site is to supplement the Medical genetics text book written by Jorde et. al. in medical education. Medical genetics 2nd Edition gives students the they need to understand modern genetics. It starts with overview of basic molecular genetics, then explores chromosomal and http://medgen.genetics.utah.edu/

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82. BBC - A-Z Illnesses And Conditions - Topics Listed Alphabetically Artificial hips; Asbestosis; Asthma; Asthma (children); Astigmatism (children);ataxia; Food poisoning; Foot problems; Fragile X Syndrome; Friedreich s ataxia. http://www.bbc.co.uk/health/features/summer_accidents.shtml

@import url('/includes/tbenh.css') ; Home TV Radio Talk ... A-Z Index MONDAY 7th June 2004 Text only BBC Homepage Health Home Lifestyle Home ... Conditions QUICK GUIDE A-Z Children's Ailments IN-DEPTH Addictions Allergies Arthritis Asthma ... Help Like this page? Send it to a friend! A-Z Illnesses and Conditions - listed alphabetically Scroll down to find the condition you're looking for. If you can't find it, try typing in your keyword in the Search box at the top right corner of this page. There is a separate A-Z listing for children's ailments. A - Z A B C D ... P Q R S T U ... Y Z A Accidents (children) Achondroplasia Acne Acne (children) ... P Q R S T U ... Y Z B Babies not thriving Back curves Back pain Bedwetting ... P Q R S T U ... Y Z C Calcium Cancer (children) Carbon monoxide poisoning Cardiac Syndrome X ... P Q R S T U ... Y Z D Deafness Dementia Dental Health Depression ... P Q R S T U ... Y Z E Ear problems Ear problems (children) Eating Disorders Ectropion ... P Q R S T U ... Y Z F Fabry's Disease Fainting (children) Febrile convulsions (children) Feeding (children) ... P Q R S T U ... Y Z G Gallstones Ganglion Gangrene Gastroenteritis (children) ... P Q R S T U ... Y Z H Haemochromatosis Haemophilia Haemorrhoids (Piles) Hair loss (in women) ... P Q R S T U ... Y Z I Irritable Bowel Syndrome Impetigo (children) Impotence Indigestion ... P Q R S T U ... Y Z J Jaundice (children) A B C ... P Q R S T U ... Y Z K Kabuki Syndrome Kawasaki Klinefelter Kugelberg-Welander Disease ... P Q R S T U ... Y Z L Legionnaires Leigh's Disease/Syndrome Leukaemia Lichen planus ... P Q R S T U ... Y Z M Malaria Mania Manic Depression Marfan Syndrome ... P Q R S T U ... Y Z N Nappy rash (children) Narcolepsy Nephritis Neurofibromatosis ... P Q

83. GeneTests Home Page a publicly funded medical genetics information resource developed for International directory of genetics and prenatal diagnosis clinics healthcare provider or a genetics clinic http://www.genetests.org/

Funded by NIH, HRSA, and DOE GeneReviews Clinics Laboratories testing for Diseases 711 Clinical 340 Research only Average Daily Hits GeneReviews Laboratory Directory More usage statistics (For Authors, Reviewers, Laboratory/Clinic Contacts) Welcome to the GeneTests Web site, a publicly funded medical genetics information resource developed for physicians, other healthcare providers, and researchers, available at no cost to all interested persons. Use of this Web site assumes acceptance of the Direct questions to genetests@genetests.org At This Site GeneReviews Online publication of expert-authored disease reviews Laboratory Directory International directory of genetic testing laboratories Clinic Directory International directory of genetics and prenatal diagnosis clinics Educational Materials Illustrated glossary About genetic services PowerPoint slide presentations What's New New Features New Service Listings in the Clinic Directory PowerPoint Slide Show: GeneReviews Links to Laboratory Web Sites GeneReviews Author List Printable Resources New in GeneReviews New Lab Listings 14 new listings GeneTests is a supplement to and not a substitute for medical advice. Patients with specific questions about genetic counseling or testing should contact their healthcare provider or a genetics clinic.

84. Emory Genetics Laboratory, Emory University a heterogeneous group of neurodegenerative disorders characterized by progressiveataxia, dysarthria, swallowing (Please call Emory genetics Laboratory prior http://server2k.genetics.emory.edu/lab/user/index.pl?display=tests&test=61

85. U Of M: Department Of Genetics, Cell Biology And Development Nature genetics 19196198. Reviews Ranum, LPW Molecular genetics of spinocerebellarataxia type 8 (2003) Cytogenetic and Genome Research 100175-83. http://www.gcd.med.umn.edu/html/faculty pages/ranum.html

Return to: College of Biological Sciences Medical School U of M Home One Stop ... MCB Home Laura Ranum, Ph.D. Professor Areas of Research Research Techniques Research Interests Selected Publications ... Related Links Mailing Address: University of Minnesota Department of Genetics, Cell Biology, and Development 6-160 Jackson 321 Church St. SE Minneapolis, MN 55455 USA Education: Ph.D. University of Minnesota, 1989 Office: 5-128 MCB P: 612-624-0901 F: 612-625-8488 Email: ranum001@umn.edu Lab: 5-162 MCB P: 612-626-3521 Areas of Research Strength: Neuroscience Human Genetics Muscular Dystrophy Ataxia back to top Research Techniques: Human genetics Genetic mapping Positional cloning Transgenic models back to top Research Interests: Many neurodegenerative diseases begin later in life after the nervous system is fully developed. The biochemical bases for the initiation of the degenerative processes are not understood. A major step towards a better understanding of neurodegenerative diseases was made with the discovery that microsatellite repeat expansions are responsible for a number of these diseases. Our group is interested in understanding

86. U Of M: Department Of Genetics, Cell Biology And Development Areas of Research Strength Molecular neurogenetics Spinocerebellarataxia Major histocompatibility complex genetics back to top. http://www.gcd.med.umn.edu/html/faculty pages/orr.html

Return to: College of Biological Sciences Medical School U of M Home One Stop ... MCB Home Harry Orr, Ph.D. Professor Areas of Research Research Techniques Research Interests Selected Publications ... Related Links Mailing Address: University of Minnesota Department of Genetics, Cell Biology, and Development 6-160 Jackson 321 Church St. SE Minneapolis, MN 55455 USA Education: Honors: MERIT Award NIH Office: 5-122 Moos Tower P: 612-625-3647 F: 612-626-7031 Email: orrxx002@umn.edu Lab: P: 612-625-8452 Areas of Research Strength: Molecular neurogenetics Spinocerebellar ataxia Major histocompatibility complex genetics back to top Research Techniques: Molecular biology PCR Transgenic mice Histology back to top Research Interests: Dr. Orr's research program is focused on the molecular genetics of mammalian development and neurodegenerative diseases. He and his colleagues recently cloned the gene for an autosomal dominant form of spinocerebellar ataxia (SCA 1). They showed that the disease is due to expansion of an unstable trinucleotide repeat (CAG) within the SCA 1 gene, which they have mapped to the short arm of human chromosome.

87. The Hospital For Sick Children: Genetics Cancer genetics; Molecular genetics of the chromosome instability syndromesataxiatelangiectasia, Werner syndrome, Bloom syndrome and Fanconi anemia; http://www.sickkids.on.ca/cgenetics/smeyn.asp

Dr. Stephen Meyn MD, PhD, FRCPC, FACMG Title in Genetics Department: Staff Clinician Scientist Position Description: Professor Department of Molecular and Medical Genetics, Department of Paediatrics, University of Toronto Senior Scientist Genetics and Genomic Biology Programme, Reserach Institute, The Hospital for Sick Children Research Interests: Cancer Genetics Molecular Genetics of the chromosome instability syndromes: ataxia-telangiectasia, Werner syndrome, Bloom syndrome and Fanconi anemia DNA repair, genetic recombination and aging Recent, Reflective Publications: Xu Y, Bronson RT, Brainerd EE, Ashley T, Meyn MS, Baltimore D. "Targeted disruption of Atm leads to growth retardation, chromosomal fragmentation during meiosis, immune defects and thymic lymphoma." Keegan KS, Holtzman DA, Plug AW, Brainerd EE, Christenson ER, Bentley, Taylor EM, Meyn MS, Moss SB, Carr AM., Ashley T, Hoekstra M. "The ATR and ATM protein kinases associate with different sites along meiotically pairing chromosomes." Fritz E, Elsea SH, Patel PI, Meyn MS. "Overexpression of a human topoisomerase III protein alleviates multiple aspects of the ataxia-telangiectasia phenotype"

88. Doença Machado-Joseph dates in reverse chronological order * President, Portuguese Society of HumanGenetics (1998) * Secretary / interim president, ataxia Research Group (ARG http://webhome.idirect.com/~albri/jscurreng.html

MACHADO-JOSEPH DISEASE Last update: November 10, 2000 Prof. Associado Dr. Jorge Sequeiros CURRICULUM VITÆ Name: António Jorge dos Santos Pereira de Sequeiros Place and date of birth: Porto, 28th October 1952 Nationality: Portuguese Institutional address: UnIGENe, Instituto de Biologia Molecular e Celular (IBMC), Univ.Porto Rua do Campo Alegre, 823 4150-180 Porto Portugal Telephone (351) 22 607 49 42 Telefax (351) 22 609 91 57 Email: jsequeir@ibmc.up.pt Academic degrees, fields of study, awarding institut., dates in rev. chronological order 1990 Ph.D. in Genetics (Doctorate), ICBAS, Univ. Porto. 1987 Graduation as specialist in Medical Genetics 1987 Graduation as specialist in Internal Medicine 1985 Competence in Medical Genetics, Ordem dos Médicos (Portuguese Medical Association) 1982-85 Fellowship in Medical Genetics, Johns Hopkins Hospital, Baltimore, MD. 1982 ECFMG (Educat. Comm. Foreign Med. Grad.) Certificate

89. Genética Del Cáncer Del Seno (Genetics Of Breast Cancer) Translate this page Topics. Genética del Cáncer del Seno (genetics of Breast Cancer http://www.healthsystem.virginia.edu/UVAHealth/adult_breast_sp/gene.cfm

@import url(/assets/UVAHealth/ssi/css/greystone_advance.css); Alergias y Asma Artritis Cáncer de La Piel Cirugía Ortopédica Cirugía Plástica Columna-Hombro-Pelvis Cuidado de Los Ojos Cuidado Quirúrgico Dermatología Diabetes Embarazo y Parto Emerg. No Traumática Endocrinología Enf. Cardiovasculares Enf. Digestivas Enf. Infecciosas Hematología Hígado-Bilis-Páncreas Huesos Med. Medio Ambiente Med. para el Viajero Medicina Alternativa Otorrinolaringología Patología Pediatría Problemas Respiratorios Radiología Rehabilitación Salud de la Próstata Salud de las Mujeres Salud de los Hombres Salud del Seno Salud en el Hogar Salud Ginecológica Salud Mental Salud Oral Sistema Nervioso Urología FIND A DOCTOR MAKE AN APPOINTMENT CALENDAR OF EVENTS CLINICAL TRIALS ... Ataxia Telangiectasia (A-T) (Ataxia Telangiectasia (A-T)) Topics Genética del Cáncer del Seno (Genetics of Breast Cancer) Ataxia Telangiectasia (A-T) (Ataxia Telangiectasia (A-T)) Síndrome de Cowden (Cowden Syndrome) Síndrome de Li-Fraumeni (Li-Fraumeni Syndrome) Síndrome de Peutz-Jeghers (Peutz-Jeghers Syndrome) ... Recursos en la Red UVa Health System PO Box 80229 Charlottesville , VA 22908 For comments and suggestions about this page: Health Topics Contact Last Modified: 2004/03/09 of the University of Virginia About This Site

90. Redirect http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?229300

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