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 syndromebarth 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
Extractions: 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the one-third new mutation rate predicted for X-linked recessive diseases (Haldane fraction) (I. Gonzales, R. Kelley, unpublished).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.
Page Title Promotes knowledge about this disease among families, physicians and scientists, serving as a focal Category Health Conditions and Diseases barth syndromeThe (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/
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/
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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
Barth The Complete barth syndrome Homepage. Introduction http://www.csun.edu/~hcbio033/barth.html
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
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/
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Barth Syndrome Foundation For information about the barth syndrome Foundation contact http://www.med.jhu.edu/CMSL/Barth_Family.html
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
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
Extractions: 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.
BSF Research Grant Program Links to Research Grant Program Applications from the barth syndrome Foundation, Inc. http://www.barthsyndrome.com/links_research.htm
Extractions: 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('>');
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
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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
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
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
Extractions: United Kingdom symptoms useful links medical literature on 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 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: www.barthsyndrome.org
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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
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
