1. Barth Syndrome - X-linked Cardiomyopathy And Neutropenia An article about barth syndrome with a description, clinical manifestations, etiology, epidemiology, Category Health Conditions and Diseases barth syndrome......barth syndrome X-linked Cardiomyopathy and Neutropenia. Richard I.Kelley, MD, PhD. Division of Metabolism, Kennedy Krieger Institute. http://www.med.jhu.edu/CMSL/Barth_Summary.html

Barth Syndrome - X-linked Cardiomyopathy and Neutropenia Richard I. Kelley, MD, PhD Division of Metabolism, Kennedy Krieger Institute Department of Pediatrics, Johns Hopkins Medical Institutions History and Overview or " TAZ, " mutations in Barth syndrome was further supported by the finding of disabling mutations of TAZ in 14 additional Barth syndrome families [Johnston et al, 1997]. The recognition of homology of TAZ Clinical Manifestations TAZ Genetic and Molecular Pathology TAZ mutations that yield different effects in different tissues. However, in a detailed study of 14 Barth syndrome families, there was no evident phenotype-genotype correlation [Johnston et al, 1997]. To date, more than 50 different mutations in the TAZ gene have been found, of which 60% are frame-shift, stop, or splice-site mutations predicted to disrupt completely the function of the Barth proteins. Another 30% lead to a change in the charge of the protein. A substantial fraction of the mutations are de novo mutations, in a proportion not inconsistent with the one-third new mutation rate predicted for X-linked recessive diseases (Haldane fraction) (I. Gonzales, R. Kelley, unpublished). Epidemiology Differential Diagnosis Diagnostic Evaluation Prognosis and Complications Management Literature Cited Ades LC, Gedeon AK, Wilson MJ, Latham M, Partington MW, Mulley JC, Nelson J, Lui K, Sillence DO. 1993. Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28. Am J Med Genet 45:327-334.

2. Page Title Promotes knowledge about this disease among families, physicians and scientists, serving as a focal Category Health Conditions and Diseases barth syndrome......The (BSF) website offers support to affected families and individuals as wellas assisting scientists to make an accurate diagnosis of barth syndrome. http://www.barthsyndrome.org/

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3. Barth Syndrome Family Network Offers details about the disease, message board, research sites, events and private chats. Numerous links to other resources. http://shelbowen.freeyellow.com/

Let American Consumer Counseling Help you Get Out of Debt! Barth Syndrome Family Network This site has been created to assist those who are directly or indirectly affected by Barth Syndrome. Take the time to browse about and bookmark this site. Please contact us if you or someone you know has Barth Syndrome. H OT L INKS Description of Barth Syndrome Messaging Boards Research Sites Informative sites about Barth Syndrome ... Sign My Guestbook take my poll at: htmlGEAR.com Poll: htmlGEAR.com var enabled = 'no'; Factoid: Click to View or Add Text. Email: sbowen@perry.gulfnet.com You Are Visitor

4. Barth Syndrome Clinical Mass Spectrometry Laboratory Kennedy Krieger Institute 707 North Broadway Baltimore, Maryland 21205 barth syndrome (Xlinked Cardiomyopathy) http://www.med.jhu.edu/CMSL/Barth_Syndrome.html

Clinical Mass Spectrometry Laboratory Kennedy Krieger Institute 707 North Broadway Baltimore, Maryland 21205 Barth Syndrome (X-linked Cardiomyopathy) Description of Syndrome Publication Synopsis (OMIM) Bibliography with Abstracts ... Family Support Group

5. Barth The Complete barth syndrome Homepage. Introduction http://www.csun.edu/~hcbio033/barth.html

The Complete Barth Syndrome Homepage Introduction Commonly Asked Questions Clinical Symptoms Support Groups ... Go to the Top Last updated 06/20/00. Please direct any comments, questions, or suggestions to Troy Phipps: hbbio254@csun.edu

6. Barth Syndrome Foundation Introduction Page The (BSF) website offers support to affected families and individuals as well asassisting scientists to make an accurate diagnosis of barth syndrome. http://www.barthsyndrome.org/page2.html

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7. Major Aspects Of Growth In Children (MAGIC) An organization providing support and education regarding growth disorders in children and related adult disorders. Includes Growth Hormone Deficiency, barth syndrome, Congenital Adrenal Hyperplasia, Precocious Puberty, RussellSilver Syndrome, Turner Syndrome, Thyroid Disorders Septo Optic Dysplasia, McCune-Albright Syndrome, and Rare Disorder/Hypophosphatasia. http://www.magicfoundation.org/

8. Sites To Gather Information Regarding Barth Syndrome Sites to gather information regarding barth syndrome. Here you are morelikely to find information specific to barth syndrome. HOT LINKS. http://shelbowen.freeyellow.com/page4.html

Matchmaker.com: Sign up now for a free trial. Date Smarter! Sites to gather information regarding Barth Syndrome Here you are more likely to find information specific to Barth Syndrome. H OT L INKS Orphanet is a site dedicated to rare disorders The United Mitochondrial Disease Foundation Types and definitions of different cases of non-mendelian inheritance Mitochondrial Myopathies ... This site is hosted for FREE on FreeYellow yours can be, too! Click here for more information.

9. Barth Syndrome Foundation For information about the barth syndrome Foundation contact http://www.med.jhu.edu/CMSL/Barth_Family.html

Clinical Mass Spectrometry Laboratory Kennedy Krieger Institute 707 North Broadway Baltimore, Maryland 21205 Barth Syndrome Foundation For information about the Barth Syndrome Foundation contact: Shelly Bowen - General Enquiries: sbowen@barthsyndrome.org Anna Dunn - Family Liason: adunn@barthsyndrome.org kmccurdy@barthsyndrome.org Barth Syndrome Foundation Homepage Return to CMSL Homepage

10. Barth Syndrome Foundation Introduction Page The (BSF) website offers support to affected families and individuals as well as assisting scientists to make an accurate diagnosis of barth syndrome. An informative site dedicated to barth syndrome. http://www.barthsyndrome.com/page2.html

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11. Schedule.html barth syndrome Family and Research Meeting Friday, June 16th AfternoonSession Clinical and Genetic Characteristics of barth syndrome. http://www.csun.edu/~hcbio033/Schedule.html

Barth Syndrome Family and Research Meeting Kennedy Krieger Institute-Fairmount Building- June 16-17, 2000 Friday, June 16th- Afternoon Session Clinical and Genetic Characteristics of Barth Syndrome 1:00-1:10 Welcome- Ricard I. Kelley, M.D., Ph.D., Kennedy Krieger Institute. 1:10-2:00 Peter G. Barth, M.D.- University of Amsterdam, Amsterdam, The Netherlands "X-linked cardiomyopathy and neutropenia- an historic and clinical overview of Barth syndrome" 2:00-2:45 Richard I. Kelley, M.D., Ph.D., Kennedy Krieger Institute. "Barth syndrome, the American experience" 2:45-3:30 Gerard Berry, M.D.- Children's Hospital of Philadelphia, Philadelphia, PA "Treatment of Barth syndrome with growth hormone." 3:30-4:00 Coffee Break 4:00-4:30 Gerald Cox, M.D., Ph.D, The Children's Hospital, Boston, MA "Neutropenia in Barth syndrome: treatment with G-CSF" 4:30-5:00 Iris Gonzalez- duPont Children's Hospital, Wilmington, DE "The spectrum of G4.5 mutations in Barth syndrome" 5:00-5:15 Ricard I. Kelley, M.D., Ph.D., Kennedy Krieger Institute. "Cardiomyopathy-Parkinsonism syndrome: an autosomal recessive Barth-like disorder" 5:15-5:30 Troy Phipps, Doctoral Candidate, California State University, Northridge.

12. BSF Research Grant Program Links to Research Grant Program Applications from the barth syndrome Foundation, Inc. http://www.barthsyndrome.com/links_research.htm

Links to Research Grant Program Applications from the Barth Syndrome Foundation, Inc. Note: Some of these may be very large and may take sometime to view. It is suggested that you save the files to your computer for your convenience. The deadline for receiving the Letters of Intent is 5:00 PM, June 27, 2003. These files have not yet been released and are not available yet. 2003 BSF Research Grant Program Overview . 2 pages. (96 KB). BSF Letter of Intent Guidelines and Requirements . 2 pages. (85 KB). BSF Research Letter of Intent Information Form . 1 page. (68 KB). BSF Research Letter of Intent Information Form . 1 page. Microsoft Word Document (21 KB). The deadline for receiving the Letters of Intent is 5:00 PM, June 27, 2003. Return to The Barth Syndrome Foundation, Inc. Web Site /* You may give each page an identifying name, server, and channel on the next lines. */var pageName = "";/**** DO NOT ALTER ANYTHING BELOW THIS LINE! ****/var code = ' '; document.write(' '); document.write('>');

13. Kennedy Krieger Institute Barth Syndrome Print this page barth syndrome barth syndrome is a rare, sexlinkedgenetic disorder of lipid metabolism that affects males. Typically http://www.kennedykrieger.org/kki/kki_diag.jsp?pid=2170

14. Kennedy Krieger Institute Barth Syndrome Keyword Search Search barth syndrome barth syndrome is a rare, sexlinkedgenetic disorder of lipid metabolism that affects males. http://www.kennedykrieger.org/accessible/kki_diag.jsp?pid=2170

15. Barth Syndrome Foundation barth syndrome Foundation. For information about the barth syndrome Foundationcontact Shelly Bowen General Enquiries sbowen@barthsyndrome.org. http://www.hopkinsmedicine.org/cmsl/Barth_Family.html

Clinical Mass Spectrometry Laboratory Kennedy Krieger Institute 707 North Broadway Baltimore, Maryland 21205 Barth Syndrome Foundation For information about the Barth Syndrome Foundation contact: Shelly Bowen - General Enquiries: sbowen@barthsyndrome.org Anna Dunn - Family Liason: adunn@barthsyndrome.org kmccurdy@barthsyndrome.org Barth Syndrome Foundation Homepage Return to CMSL Homepage

16. The Barth Syndrome Foundation REQUEST FOR RESEARCH PROPOSALS. The barth syndrome Foundation, Inc.(ESF) is pleased to announce the availability of funding for http://www2.mc.duke.edu/depts/gc/fedgrant/barth.html

17. BARTH SYNDROME (OMIM 302060) United Kingdom barth syndrome (OMIM 302060) United Kingdom. symptoms useful links medical literatureon barth syndrome. International conference about barth syndrome. http://www.wapenveld.com/BarthSyndroom/unitedkingdom.html

update questions? contact us! Barth Syndrome (OMIM 302060) United Kingdom symptoms useful links medical literature on Barth Syndrome International conference about Barth Syndrome The next international conference about Barth Syndrome will take place in Baltimore, Maryland, Unites States, at October 18-22, 2002. This conference will be organized by the Barth Syndrome Foundation Inc. in co-operation with the Kennedy Krieger Institute of the Johns Hopkins University. More information at www.barthsyndrome.org Symptoms Barth Syndrome is a rare but serious genetic disorder, that affect males. The characteristics (signs and symptoms) of Barth Syndrome consist of the following in varying degrees: Neutropenia ... www.barthsyndrome.org American site about Barth Syndrome and the Barth Syndrome Foundation Inc. www.bhf.org.uk British Heart Foundation www.cardiomyopathy.org were useful in helping a family get travel insurance for a Barth boy, that didn't exclude all pre-existing conditions. www.geneticalliance.org www.cafamily.org.uk contact a family for people with children who have a disability of any kind www.gig.org.uk

18. Barth Syndrome De Barth (OMIM 302060) France barth syndrome France update 2201-02 index Barth Syndroom symptomen BarthSyndroom diagnose ziekteverloop behandeling Barth Syndroom Comité Barth http://www.wapenveld.com/BarthSyndroom/france.html

update questions? contact us! Syndrome de Barth (OMIM 302060) France www.barthsyndrome.org Association Americaine www.afm-france.org Association Française contre les Myopathies www.orpha.net maladies rares still under construction. Tips or advice? Please mail to Joke van Loo

19. ORPHANET® : Barth Syndrome Translate this page ORPHANET. ORPHANET database access. barth syndrome. Direct access to detailsAlias Cardiomyopathy,Cardioskeletal myopathy-neutropenia. Home Page. http://www.orpha.net/static/GB/barth.html

ORPHANET database access Barth syndrome Direct access to details Alias : Home Page

20. Service Page - Pathologie Information DISEASE barth syndrome, barth syndrome is an Xlinked dilated cardiomyopathy,with cyclic neutropenia and skeletal myopathy and abnormal mitochondria18. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=111

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