1. Alport Syndrome Home Page About Alport Syndrome Alport Resources at University of Utah Genetics Information and Related Resources Alport Gene Testing, Genetic http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

2. Oxford Eprints - Characterization Of A Major Modifier Locus For the HanSPRD(cy/+) rat in a region conserved with a mouse modifier locus for Alport syndrome. Human Molecular Genetics 11(18)pp. 21652173. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

3. GeneReviews Alport Syndrome Your browser does not support HTML frames so you must view Alport Syndrome in a slightly less readable form. Please follow this link to do so. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

4. Alport Syndrome And Mental Retardation Clinical And Genetic Genetics Journal of Medical Genetics 2002;39359365 2002 Journal of Medical Genetics LETTER TO JMG Alport syndrome and mental retardation http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

5. Alport Syndrome And Mental Retardation Clinical And Genetic Your browser does not support frames. Click here to view the unframed reprint. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

6. X-linked Alport Syndrome Natural History In 195 Families Xlinked Alport Syndrome http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

7. X-Linked Alport Syndrome Natural History And Genotype-Phenotype XLinked Alport Syndrome Natural History and Genotype-Phenotype Correlations in Girls and Department of Genetics and Cell Biology, University http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

8. Characterization Of A Major Modifier Locus For Polycystic Kidney Your browser does not support frames. Click here to view the unframed reprint. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

9. Characterization Of A Major Modifier Locus For Polycystic Kidney Human Molecular Genetics, 2002, Vol. 11, No. in the HanSPRD(cy/+) rat in a region conserved with a mouse modifier locus for Alport syndrome http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

10. Alport Syndrome - Parents - Boys Town National Research Hospital Genetics and Deafness Alport Syndrome. Alport Syndrome (AS) is characterized by hereditary nephritis (kidney disease known as Bright's disease http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

11. Alport Syndrome - Genetics Home Reference alport syndrome is a genetic condition characterized by the progressive loss ofkidney function and hearing. alport syndrome can also affect the eyes. http://ghr.nlm.nih.gov/condition=alportsyndrome

Home What's New Browse Handbook ... Search Alport syndrome Related Gene(s) Quick links to this topic NIH Publications National Institutes of Health MedlinePlus Health Information Genes and Disease Genetic disorder summaries Educational resources Information pages Patient support For patients and families Gene Reviews Clinical summary Gene Tests DNA test labs PubMed Recent literature OMIM Genetic disorder catalog References Alport syndrome On this page: What is Alport syndrome? How common is Alport syndrome? ... help with understanding Alport syndrome? What is Alport syndrome? Alport syndrome is a genetic condition characterized by the progressive loss of kidney function and hearing. Alport syndrome can also affect the eyes. The presence of blood in the urine (hematuria) is almost always found in this condition. Many people with Alport syndrome also exhibit high levels of protein in their urine (proteinuria). As this condition progresses, the kidneys become less able to function properly and kidney failure results. Hearing loss is a common feature of Alport syndrome, but the abnormalities in the eyes seldom lead to loss of vision. How common is Alport syndrome?

12. Alport Syndrome - References - Genetics Home Reference used to develop the genetics Home Reference condition summary on alport syndrome . Xlinked alport syndrome natural history and genotype-phenotype http://ghr.nlm.nih.gov/condition=alportsyndrome/show/References

Home What's New Browse Handbook ... Search Alport syndrome Back to condition summary Alport syndrome References These sources were used to develop the Genetics Home Reference condition summary on Alport syndrome. Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, Pirson Y, Dahan K, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz JM, Schroder C, Sanak M, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler MC. X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study. J Am Soc Nephrol. 2003 Oct;14(10):2603-10. PubMed citation Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, Pirson Y, Verellen C, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz JM, Schroder C, Sanak M, Krejcova S, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler MC. X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males. J Am Soc Nephrol. 2000 Apr;11(4):649-57. PubMed citation ... PubMed citation Last Comprehensive Review: January 2005 Published: September 9, 2005

13. Alport Syndrome Home Page Molecular Pathology and genetics of alport syndrome, alport syndrome Clinicaland Genetic Correlation in a TypeIV Collagen Disease, by KO Netzer et http://www.cc.utah.edu/~cla6202/ASHP.htm

Alport Syndrome Home Page why by Curtis L. Atkin PhD , Research Associate Professor of Internal Medicine and of Biochemistry, University of Utah, deceased January 23, 2000. Please send items for general discussion to either or both of two online Alport support groups with message boards and chats, the Alport Forum and the Hereditary Nephritis Foundation NC . We cannot respond regarding your personal health: see your nephrologist! Citations here of some commercial services are solely for your information, and are in no way to be construed as recommended by this site or the University of Utah. Responsibility is hereby disclaimed for any and all information, goods and services provided by others. Caveat lector! Caveat emptor! First version January, 1996; last modified by CLA December 16, 1999, last amended by D. Barker August 10, 2000. Visitors enumerated by WebCounter™ since May 9, 1999: Notes: I discovered that many links on this page had been inadvertantly altered. (Also Webcounter is frozen since July). I have tried to fix the bad links (still have not figured out Webcounter). Please inform me of any bad links that you find. Thanks.

14. Molecular Genetics Of Alport Syndrome Molecular genetics of alport syndrome. By David F. Barker, Ph.D. Presented atPatient, Family and Friends Day Fourth International Workshop on alport http://www.cc.utah.edu/~cla6202/DBb.htm

Molecular Genetics of Alport Syndrome By David F. Barker, Ph.D. Presented at Patient, Family and Friends Day Fourth International Workshop on Alport Syndrome April 15, 1999, in Salt Lake City There are many families in the Alport study, so we have tried to develop efficient methods for collagen gene mutation screening. The following table summarizes year by year accumulation of independently ascertained kindreds who actively participate in the University of Utah study, by providing medical information and blood or other specimens. Mutation detection Although we have used various other methods in the past, the most rapid means that we currently have available for molecular diagnosis is mutation detection. By this approach, we attempt to find the specific molecular genetic defect that causes the disease in a particular family. This approach would not be possible unless we knew the specific genes that cause most forms of Alport Syndrome. Since there are 100,000 genes in the human genome and there are thousands of "parts" to each gene that might be defective, it is not now possible to perform a test of ALL of the genes in any single individual. In fact, it is still rather difficult to test even ONE gene in a single individual. Genes vary in size and small genes are easier to "scan" for mutations than big ones. The X-linked Alport gene, COL4A5, happens to be a very large gene. Because COL4A5 is so large, most methods that are used to identify mutations involve breaking the gene down into smaller sub-segments and examining each of these sub-segments for some change that would destroy the normal function of the gene. Since different families almost always have different mutations, the entire gene must be examined in every new family.

15. KFOC - Alport Syndrome As outlined above, the genetics of alport syndrome is complex. Diagnosis in youngchildren may be tricky, even with the help of a renal biopsy. http://www.kidney.ca/english/publications/factsheets/alport.htm

Profile Programs Volunteering Offices ... Main Page Alport Syndrome Alport Syndrome (AS) is an inherited disorder of the basement membranes of the kidney, eye and ear. People who inherit defective genes for the "collagen" proteins in these basement membranes may develop progressive loss of renal function, deafness and abnormalities of the eye. In the kidneys, glomerular basement membranes normally act like filters, allowing fluid to move from blood vessels to urine while retaining protein and red blood cells within the bloodstream. Thus, one of the early signs of Alport syndrome may be leakage of small amounts of blood or protein into the urine during childhood. Collagen-containing membranes are also important for the shape of the lens of the eye and the structure of the inner ear. History In 1927, Dr. Alport wrote his classic report on a British family with the syndrome. He drew attention to the fact that affected males in this family uniformly developed progressive renal failure and deafness, whereas females were less affected. This pattern of inheritance is termed "X-linked". The normal copy of the gene onto the other X chromosome relatively protects female "carriers" who inherit an abnormal Alport gene on one X chromosome. Some females may develop renal insufficiency, but in general this occurs late in life. In contrast, every male receives one Y chromosome from his father and one X chromosome from his mother; thus, if he happens to inherit an X-chromosome bearing a mutant Alport gene, the boy is unprotected and develops the full-blown Alport Syndrome as a young adult.

16. Page Not Found - Boys Town National Research Hospital genetics and Deafness alport syndrome. alport syndrome (AS) is characterizedby hereditary nephritis (kidney disease known as Bright s disease in the http://www.boystownhospital.org/parents/info/genetics/alport.asp

@import "/css/complex.css"; This site was designed for more recent browsers, but it is accessible to any browser or Internet device. To view the site correctly please update your browser. Click here for a list of more recent browsers. Each year thousands of children with hearing loss and disorders affecting their communication abilities come to Omaha from across the U.S. for care and treatment at Boys Town National Research Hospital. @import "/css/rightcol.css"; What's New Contact Us Pediatrics Surgery Center ... Donate by Mail Page Not Found Sorry, we couldn't find the page you were looking for: http://www.boystownhospital.org/parents/info/genetics/alport.asp We have recently redesigned our Web site and the page you requested has either been moved or deleted. Please use the navigation on the right side of this page to find what you were looking for. You may also search for your page using the form below. Search the Web Site: Search On : All Words Any Words Phrase Searched documents in total.

17. Alport Syndrome - Genetics And Deafness - Information On Hearing Loss - About He Information on Hearing Loss genetics and Deafness - alport syndrome. alportsyndrome (AS) is characterized by hereditary nephritis (kidney disease known http://www.boystownhospital.org/Hearing/info/genetics/syndromes/alport.asp

@import "/css/complex.css"; This site was designed for more recent browsers, but it is accessible to any browser or Internet device. To view the site correctly please update your browser. Click here for a list of more recent browsers. More than 24,000 children are born with hearing loss in the United States each year. Boys Town National Research Hospital is a national leader in the diagnosis and treatment of children with moderate to profound hearing loss. @import "/css/rightcol.css"; What's New Contact Us Pediatrics Surgery Center ... Donate by Mail Information on Hearing Loss - Genetics and Deafness - Alport Syndrome Alport Syndrome (AS) is characterized by hereditary nephritis (kidney disease known as Bright's disease in the past) and sensorineural hearing loss. The mode of inheritance may be X-linked or autosomal dominant. Less common symptoms include a defect of the lens of the eye called anterior lenticonus and a defect of blood platelets that can cause bleeding complications. AS is usually diagnosed by a test for blood and protein in the urine, hearing tests, and an extended family history. Hearing loss commonly occurs in childhood.

18. MyDNA.com - Alport Syndrome alport syndrome (AS) is a genetic disease in which a collagen mutation affectsthe kidneys, the ears, and the eyes. The syndrome was named for Dr. alport http://www.mydna.com/genes/genetics/disorders/disease/male/alport.html

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19. MyDNA.com - Hereditary Nephritis - Alport Syndrome myDNA is a consumer focused health, genetics, and genomics information provider The primary indicator of alport syndrome is a family history of chronic http://www.mydna.com/health/kidney/glomerular/overview/alport.html

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20. CCHS Clinical Digital Library Hereditary Nephritis, Including alport syndrome Access document geneticsResources See also General genetics Resources. Brenner and Rector s The Kidney http://cchs-dl.slis.ua.edu/clinical/nephrology/glomerulonephritis/multisystem/al

Clinical Resources by Topic: Nephrology Alport Syndrome Clinical Resources Pediatrics Atlases Pathology Genetics ... Miscellaneous Resources See also: Nephrological Clinical Procedure Resources General Nephrology Clinical Resources Alport Syndrome Patient/Family Resources Harrison's Principles of Internal Medicine 16th Ed.-2005: Table of contents Health Sciences Library subscription INFO Chapter 342. Inherited Disorders of Connective Tissue: Table of contents Introduction: Access document Specific Disorders: Access document Further Reading: Access document Brenner and Rector's The Kidney 7th Ed.-2004 (MD Consult): Table of contents Health Sciences Library subscription INFO Chapter 29 - Secondary Glomerular Disease: Access document Hereditary Nephritis, Including Alport Syndrome: Access document Clinical Features: Access document Pathology: Access document Pathogenesis and Genetics of Hereditary Nephritis: Access document Course and Treatment: Access document Goldman: Cecil Textbook of Medicine 22nd Ed.-2004 (MD Consult): Table of contents Health Sciences Library subscription INFO Part XI - Renal and Genitourinary Diseases: Access document Chapter 110 - Approach to the Patient with Renal Disease: Access document Introduction: Access document [Approach to the Patient with Renal Disease]: Access document Major Renal Syndromes: Access document Renal Biopsy in Evaluation of Renal Disease: Access document Suggested Readings: Access document Chapter 125 - Hereditary Chronic Nephropathies: Glomerular Basement Membrane Diseases:

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