21. Barth Syndrome barth syndrome BSF. The barth syndrome Foundation requests applicationsfor funding for research on the natural history, biochemical http://vpr2.admin.arizona.edu/rso/02051509.htm

BARTH SYNDROME - BSF The Barth Syndrome Foundation requests applications for funding for research on the natural history, biochemical basis, and treatment of Barth syndrome, an X-linked recessive, cardioskeletal myopathy associated with neutropenia, growth delay, and diverse biochemical abnormalities. Grants may be used as seed money for the testing of initial hypotheses and collection of preliminary data. Awards provide $10,000 to $40,000 for 1 or 2 years. Contact: Kate McCurdy, BSF, P.O. Box 618, Larchmont, NY 10538. E-mail: kmccurdy@barthsyndrome.org Web: http://www.barthsyndrome.org/links_research.htm Deadline: 30 June 2002 for letters of intent; 1 November 2002 for invited full applications. RSO Reference No.:

22. Barth Syndrome : Meddie Health Search ITEMS LINKS barth syndrome Family Network Offers details about thedisease, message board, research sites, events and private chats. http://www.meddie.com/search/Health/Conditions_and_Diseases/Rare_Disorders/Barth

HOME ADD A LINK MODIFY A LINK NEW LINKS ... TOP RATED Search Meddie: the entire directory only this category More search options Home Health Conditions and Diseases ... Rare Disorders : Barth Syndrome ITEMS: LINKS: Barth Syndrome Family Network Offers details about the disease, message board, research sites, events and private chats. Numerous links to other resources. (Rating: 0.00 Votes: 0) Rate It Barth Syndrome Foundation Promotes knowledge about this disease among families, physicians and scientists, serving as a focal point for data and research for scientists. The group offers support to families learning to cope with the disorder. (Rating: 10.00 Votes: 3) Rate It Clinical Mass Spectrometry Laboratory An article about Barth Syndrome with a description, clinical manifestations, etiology, epidemiology, diagnosis, prognosis and management. (Rating: 0.00 Votes: 0) Rate It HOME ADD A LINK MODIFY A LINK ... Design © ISC Enterprises Inc.

23. Rare Disorders : Meddie Health Search Agnosia (5). Aicardi Syndrome (8). Alstrom Syndrome (4). barth syndrome (3).Cerebrocostomandibular Syndrome (5). Cleidocranial Dysplasia (5). Cystinosis(4). http://www.meddie.com/search/Health/Conditions_and_Diseases/Rare_Disorders/

HOME ADD A LINK MODIFY A LINK NEW LINKS ... TOP RATED Search Meddie: the entire directory only this category More search options Home Health Conditions and Diseases : Rare Disorders CATEGORIES: Agnosia Aicardi Syndrome Alstrom Syndrome Barth Syndrome ... Wegener's Granulomatosis ITEMS: LINKS: Contact a Family Information about this organization as well as the CaF directory of specific conditions and rare disorders. Also details about the Rare Disorders Alliance - UK. (Rating: 0.00 Votes: 0) Rate It Human Growth Foundation Information about growth-related disorders through education, research, and advocacy. Member driven organization. (Rating: 0.00 Votes: 0) Rate It International Rare Disease Support Network A community providing more than a 1000 different links to support groups for the people of all nations. (Rating: 0.00 Votes: 0) Rate It National Organization for Rare Disorders, Inc. Information about NORD, its programs, special events and the variety of services offered. Includes a rare disease, organization and orphan drug database. Diseases are listed alphabetically for easy searching. (Rating: 0.00 Votes: 0)

24. NORD - National Organization For Rare Disorders, Inc. barth syndrome. To purchase fulltext report ($7.50) Copyright 2000 Synonymsof barth syndrome 3-Methylglutaconic Aciduria, Type II (MGA, Type II); http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Barth Syndrom

25. Barth Syndrome HOME barth syndrome (Cardiomyopathy, X Linked, Fatal Infantile; CardioskeletalMyopathyNeutropenia). The barth syndrome Foundation, Inc. http://www.bdid.com/barth.htm

HOME Barth Syndrome (Cardiomyopathy, X Linked, Fatal Infantile; Cardioskeletal Myopathy-Neutropenia) The Barth Syndrome Foundation, Inc. The Complete Barth Syndrome Homepage Heart Transplantation for Barth Syndrome Barth Syndrome ... HOME

26. Barth Syndrome Foundation Return to Search Page barth syndrome Foundation. PO Box 974 Perry, FL 32348 Conditionsbarth syndrome. Contact Name ShelleyBowen Contact Title President. http://www.geneticalliance.org/diseaseinfo/displayorganization.html?orgname=Bart

27. BSF Family Registration Form Areas of Interest with barth syndrome Foundation. Areas of Interestwith barth syndrome Foundation (select all that apply) List http://readyapps.memberclicks.com/apps/100/app_267/application.asp

Family Registration Form Contact Information Father/Guardian First Name: MI Father/Guardian Surname: Mother/Guardian First Name: MI Mother/Guardian Surname: Legal Guardians? Yes No Share name information with other families? Yes No Other family member First Name MI Surname: Relationship to Affected child   Please Choose One Aunt Uncle Cousin Family Friend Grandfather Grandmother Street Address 1: Street Address 2: City: State/Province: Country Zip/Postal Code: Share address information with other families? Yes No Phone: Ext.: Fax: Email 1: Email contact name: Email 2: Email contact name: Website: Preferred manner of contact: Email Fax Mail Phone Best time to call you? Share this info with other families? Yes No Affected Children Share child name/birthdate info with other families? Yes No Surname: Given Name: MI: Birthdate: Date of Death: Sex: Male Female Diagnosis (select all that apply): Note: This information will not be shared. genetic diagnosis clinical symptoms posthumously other awaiting diagnosis Surname: Given Name: MI: Birthdate: Date of Death: Sex: Male Female Diagnosis (select all that apply): Note: This information will not be shared.

28. BSF Physician/Educator Registration Form Member of The barth syndrome Foundation, Inc., Scientific Medical Advisory Board,Yes No. Currently follow individual with barth syndrome, Yes No. http://readyapps.memberclicks.com/apps/100/app_270/application.asp

Physician/Education Registration Form Contact Information Physician/Educator First Name: MI Surname: Title (e.g. Dr., Mr., Ms.): Designation (s) (e.g. PhD, M.D.) Affiliated Institution: Specialty Please Choose One Pediatric Cardiology Pediatric Hematology Pediatric Gastroenterology Pediatric Immunologist Pediatrician Pediatric Endocrinologist Pediatric Intensivist Pediatric Metabologist Pediatric Neurologist Geneticist Dietition Physical Therapist Occupational Therapist Speech Pathologist/Therapist Physiatrist Pediatric Orthopedist Pediatric Pulmonologist Anesthesiologist Pediatric Surgeon Biochemist Genetic Counselor Pediatric Urologist Other (Please Specify) Nurse (specify area of specialty) Pediatric Emergency Care Special Education Educator If Other, provide details here: Street Address 1: Address 2: City: State/Province: Country Zip/Postal Code: Share this info? BSF only Educators Family Members Physicians Phone: Ext: Fax: Email 1: Email contact name: Email 2: Email contact name: Website: Preferred manner of contact: Email Fax Mail Phone Best time to call you? Share this info?

29. CSHL - Harbor Transcript - Winter/Spring 2002 barth syndrome and Neuwald's Hypothesis From Computer to Clinic. The tafazzingene had been shown to be mutated in patients afflicted with barth syndrome. http://www.cshl.org/public/HT/ws02_neuwald.html

Search Newsletter Index Transcript Archives Subscribe Barth Syndrome and "Neuwald's Hypothesis": From Computer to Clinic SHL scientist Andy Neuwald uses neither cells, nor beakers, nor pipettes, nor Petri dishes, let alone patients in his research. So how has he recently cracked one area of medical research wide open? With a computer program he wrote called PROBE. "I'm quite happy about it. It was kind of like lightning striking, but in a way that I hope to repeat!" says Andy, referring to how PROBE revealed the probable cause of Barth syndrome, a heritable genetic disease that is often fatal in childhood. Ansy is one of several "bioinformatics" researchers at CSHL. Rather than pipetting their way toward greater understanding of how cells work, Andy and his colleagues program computers to analyze biological data in the digital realm. Consider the following twenty-letter DNA sequence: TCAAAGTGTACTTACCTCGC. No human being can look at that sequence and tell what it means. But plug it into a suitable bioinformatics computer program and watch what happens: It is sent into cyberspace and compared with millions of other sequences in existing databases. In a few seconds, a message returns indicating that this twenty-letter sequence is part of a chicken gene that encodes the protein ovalbumin, better known as egg white. To try this yourself, point your web browser to

30. Cardiac + Myopathy; Cardiomyopathy Myofibrillar myopathy (ARVC) barth syndrome Tafazzins; Xq28 Barthlike syndromemtRNA Leu Dilated cardiomyopathy (Isolated) 1q32; 9q13; 10q22 http://www.neuro.wustl.edu/neuromuscular/msys/cardiac.html

Front Search Index Links ... Patient Info CARDIAC + MYOPATHY Amyloid Cardiomyopathies Dilated Hypertrophic Isolated Carnitine Disorders ... Drugs Dystrophies Barth Desmin Dystrophinopathies Emery-Dreifuss ... Acid Maltase (Infantile) Branching enzyme Debrancher Lamp-2 Triosephosphate isomerase ... SRP Also see: Selective disorders of cardiac muscle Carnitine Disorders Biochemistry Fatty acid oxidation pathways General principles Multiple acyl–CoA dehydrogenase deficiency Reduced Muscle carnitine uptake ... CPT II deficiency Carnitine Carnitine metabolism: General principles Carnitine Source Dietary 75% Distribution: 90% in muscle Fatty acids are transported from cytoplasm to mitochondria Conversion of fatty acids to Fatty acid-CoA Mitochondrial oxidation of fatty acids provides energy source Chief energy sources for: Prolonged fasting; Skeletal muscle during exercise; Cardiac muscle Types of deficiency Primary: Due to deficient transport of carnitine into cells Secondary Free carnitine acyl-carnitine esters Lost in urine Loss of carnitine results in Reduced Buffering of toxic acyl-CoA esters Inhibition of mitochondrial systems Clinical features: General Coma after a period of starvation Hypoketosis: Low serum ketone concentrations Cardiomyopathy Muscle weakness Specific enzyme defects can include LCAD MCAD Plasma-membrane carnitine transporter Carnitine palmitoyltransferase I (CPT I) CPT II deficiency SCAD deficiency : 2 phenotypes Carnitine deficiency: Myopathic Form l ? Autosomal Recessive

31. Resources 2004 Howard Lane Austin TX 78728 Tel 866SDS-4999 (737-4999) 800-288-5582 Fax 512-251-3315barth syndrome barth syndrome Foundation PO Box 23173 Lincoln, NE http://www.neuro.wustl.edu/neuromuscular/over/resource.htm

Front Search Index Links ... Kennedy's Disease (BSMA) Leukodystrophy Lyme Disease Malignant Hyperthermia Mental Retardation ... Tuberous Sclerosis GENERAL ORGANIZATIONS American Association of Retired Persons (AARP) 601 E St., NW Washington, DC 20049 American Autoimmune Related Diseases Association 22100 Gratiot Ave. E. Detroit, MI 48021 Arthritis Foundation Hospice directory National Easter Seal Society 230 W. Monroe St., Ste. 1800 Chicago, IL 60606 National Information Center for Children and Youth with Disabilities P.O. Box 1492 Washington, DC 20013 National Institutes of Health 9000 Rockville Pike Bldg. 31, Room 2B10 Bethesda, MD 20892 National Institute of Neurological Disorders and Stroke 31 Center Drive MSC 2540 Building 31, Room 8A16 Bethesda, MD 20892-2540 National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-8923 Society for Neuroscience 11 Dupont Circle, NW Ste. 500 Washington, DC 20036 AIDS CDC National Prevention Information P.O. Box 6003 Rockville, MD 20849-6003 ALCOHOL AND DRUG ABUSE National Clearinghouse for Alcohol and Drug Information P.O. Box 2345

32. Www.grantadvisor.com/sample.txt barth syndrome FOUNDATION RESEARCH GRANT PROGRAM DUE JUN http://www.grantadvisor.com/sample.txt

< > SEP 5 AI Arts International: The Fund for U.S. Artists at International Festivals 2/02 212/674-9744 and Exhibitions http://www.artsinternational.org >>> Also due: JAN16 MAY 2 < > SEP15 MDC MacDowell Colony Residencies for Writers, Composers, and Artists 10/01 603/924-3886 http://www.macdowellcolony.org >>> Also due: JAN15 APR15 < JUN 1 SLU St. Louis Univ./Vatican Film Library: Andrew W. Mellon Fellowship Program 12/01 314/977-3090 >>> Also due: OCT 1 MAR 1 < JUN17 CAN Canadian Studies Program Enhancement Grant 5/94 202/682-1740 JUN17 CAN Canadian Studies Conference Grant Program 5/94 202/682-1740 JUN30 HAGLEY Hagley Museum and Library: Short-Term Grants-in-Aid 3/02 302/658-2400 >>> Also due: OCT29 MAR31 < JUN30 HAGLEY Hagley Museum and Library: Henry Belin du Pont Fellowship 3/02 302/658-2400 >>> Also due: OCT29 MAR31 < JUL 1 NEH Nat'l Endow. for the Humanities: Preservation, Access, and Reference Works 4/02 202/606-8570 JUL15 KRESS Samuel H. Kress Foundation: Old Masters in Context 212/861-4993 >>> Also due: JAN15

33. ChattanoogaNow | Chattanooga Times Free Press Benjamin has a rare genetic disorder called barth syndrome that causes heart problems,muscle weakness and poor immunity in males, said Dr. Cathy Stevens http://www.timesfreepress.com/2002/jul/31jul02/webLN31BarthSyndrome.html

Search our Site Search year: Find: Stock Quotes: from MSNBC Register! Wednesday, July 31, 2002 Doctor solves family's rare genetic health mystery Doctor solves family's rare genetic health mystery" By Carolyne Park Staff Writer Shelia Mann said she was uneasy throughout her pregnancy with her son Benjamin. Unlike her daughter English, born earlier, Benjamin did not move around much in the womb and he was a boy. For generations, male children had died in her family at very young ages, Mrs. Mann said. Her brother had died at 3 months old, and her sister had lost her 5-day-old son. The cause of the deaths was a mystery. "We knew there was something going on with our males, we just didn't know what," she said. Then, when Benjamin was about 6 months old, the family finally got a diagnosis. Benjamin has a rare genetic disorder called Barth syndrome that causes heart problems, muscle weakness and poor immunity in males, said Dr. Cathy Stevens, director of medical genetics at T.C. Thompson Children's Hospital. Chances of having the disorder are about one in 400,000, Dr. Stevens said.

34. 1Up Health > Health Links Directory > Conditions And Diseases: Rare Disorders: B Sites. barth syndrome Family Network Offers details about the disease,message board, research sites, events and private chats. Numerous http://www.1uphealth.com/links/rare-disorders-barth-syndrome.html

Home Contact Us Privacy Caring For Your Well Being Alternative Medicine Clinical Trials Health News Poisons ... Health Topics A-Z Search 1Up Health Health Directory Addictions Alternative Animal ... Weight Loss By Demography Child Health Teen Health Men's Health Women's Health ... Rare Disorders : Barth Syndrome Description See Related Categories Health: Conditions and Diseases: Cardiovascular Disorders: Heart Disease: Cardiomyopathy Health: Conditions and Diseases: Genetic Disorders Sites Barth Syndrome Family Network Offers details about the disease, message board, research sites, events and private chats. Numerous links to other resources. Barth Syndrome Foundation Promotes knowledge about this disease among families, physicians and scientists, serving as a focal point for data and research for scientists. The group offers support to families learning to cope with the disorder. Clinical Mass Spectrometry Laboratory An article about Barth Syndrome with a description, clinical manifestations, etiology, epidemiology, diagnosis, prognosis and management. Help build the largest human-edited directory on the web.

35. 1Up Health > Health Links Directory > Conditions And Diseases: B Angiomatosis (2) Back Disorders (91) Bad Breath (2) Baillarger Syndrome (4) Balanitis(6) Baldness (47) BardetBiedl Syndrome (6) barth syndrome (3) Basal http://www.1uphealth.com/links/conditions-and-diseases-b.html

Home Contact Us Privacy Caring For Your Well Being Alternative Medicine Clinical Trials Health News Poisons ... Health Topics A-Z Search 1Up Health Health Directory Addictions Alternative Animal ... Weight Loss By Demography Child Health Teen Health Men's Health Women's Health ... Conditions and Diseases : B Description Browse by Alphabets A C D E ... Z Categories Bacillary Angiomatosis Back Disorders Bad Breath Baillarger Syndrome ... Bursitis Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Parts of the directory made available on 1UpHealth have been modified. External Web site links provided on this site are meant for convenience and for informational purposes only; they do not constitute an endorsement. Search: The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only they do not constitute endorsements of those other sites. Home Contact Us Privacy Links Directory

36. Fundopps For Bio Sci Funding Opportunities for Bio Sci. 3. DATE 05/16/2002. FROM ZOTMAIL@uci.edu.02392 barth syndrome Foundation. TO RGS Fundopp Subscribers http://www.bio.uci.edu/fundopps/grants061402_3.html

Funding Opportunities for Bio Sci DATE: 05/16/2002 FROM: ZOTMAIL@uci.edu 02-392 Barth Syndrome Foundation

37. Mioti: Medical Condition Condition barth syndrome. barth syndrome Foundation. Today, barth syndromeis a rarely understood, frequently fatal, genetic disorder affecting boys . http://www.mioti.com/cat/condition/condition.asp?Cat=BarthSyndrome

38. Mioti: Medical Condition Barlow Syndrome, • Barrett Esophagus. • Barretts Esophagus, •barth syndrome. • Bartonellosis, • Bartter's Syndrome. • Basedow http://www.mioti.com/cat/condition/results.asp?Alpha=B

39. A Novel Mutation In The G4.5 (TAZ) Gene In A Kindred With Barth Syndrome Short Report. A novel mutation in the G4.5 (TAZ) gene in a kindredwith barth syndrome. Samo Vesel 1,4,a , Mirjam StoparObreza 2,4 http://www.nature.com/cgi-taf/DynaPage.taf?file=/ejhg/journal/v11/n1/abs/5200926

40. A Novel Mutation In The G4.5 (TAZ) Gene In A Kindred With Barth Syndrome Short Report. A novel mutation in the G4.5 (TAZ) gene in a kindred with Barthsyndrome. barth syndrome Clinical observation and genetic linkage studies. http://www.nature.com/cgi-taf/DynaPage.taf?file=/ejhg/journal/v11/n1/full/520092

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