1. Alport Syndrome Home Page Molecular Pathology and genetics of alport syndrome, edited by K Tryggvason,Contributions to Nephrology (Contrib. Nephrol. Basel 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.

2. Molecular Genetics Of Alport Syndrome Molecular genetics of alport syndrome. By David F. Barker, Ph.D. Presentedat Patient, Family and Friends Day Fourth International 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.

3. 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 in the past) and sensorineural hearing loss. http://www.boystownhospital.org/parents/info/genetics/alport.asp

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. - Most subtypes of AS include a bilateral progressive sensorineural hearing loss of mild to moderate degree, but some individuals may have a severe to profound loss. Females generally have a milder hearing loss than their male relatives if they have one at all. Management of the hearing loss includes regular audiologic follow-up, use of hearing aides, and avoidance of certain drugs and excessive noise exposure that can cause further hearing loss.

4. EMedicine - Alport Syndrome : Article By Ramesh Saxena, MD, PhD alport syndrome In 1927, Cecil A. alport described 3 generations of a family with combinations of progressive hereditary nephritis and deafness. alport also noted that hematuria was the most many more families were described, and the eponym alport syndrome (AS) was coined in 1961 advances in delineating the molecular genetics of AS, the pathogenesis of renal http://www.emedicine.com/med/topic110.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Patient Education Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Medicine, Ob/Gyn, Psychiatry, and Surgery Nephrology Alport Syndrome Last Updated: August 14, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: AS, hereditary nephritis, deafness, hematuria, type IV collagen, end-stage renal disease, ESRD, glomerular basement membrane, GBM, tubular basement membrane, TBM, autosomal dominant Alport syndrome, ADAS, autosomal recessive Alport syndrome, ARAS, X-linked Alport syndrome, XLAS, leiomyomatosis, anterior lenticonus, dot-and-fleck retinopathy, proteinuria AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Clinical Differentials ... Bibliography Author: Ramesh Saxena, MD, PhD , Assistant Professor, Department of Internal Medicine, Division of Nephrology, University of Texas, Southwestern Medical Center Ramesh Saxena, MD, PhD, is a member of the following medical societies: American Medical Association American Society of Nephrology , and International Society of Nephrology Editor(s): Frank C Brosius III, MD

5. Alport's Syndrome alport's syndrome Kidney Foundation of Canada - General overview of the disease includes details on the genetics for alport's syndrome - alport's syndrome MediFocus MedCenter http://www.health-nexus.com/alport's_syndrome.htm

Health-Nexus.Net Health-Nexus.Org The #1 Health information site Home ... Up Search Health-Nexus for: Match ALL words Match ANY word Email this page to a friend ! Post a question or comment on our Message Board Home Page Health Specialties Health News ... Alternative Health Options Substance Abuse Animal Health Search: Books Magazines Video Keywords: Find it Here Alport's Syndrome Alport's Syndrome - Kidney Foundation of Canada General overview of the disease includes details on the genetics, symptoms, detection and treatment of this renal affliction. Alport Syndrome Home Page ... KEYWORDS: Alport or Alport's syndrome, basement membranes, COL4A3, COL4A4, COL4A5and COL4A6 genes, collagen, deafness, dialysis, end-stage renal disease (ESRD ... Alport's Syndrome Alport's Syndrome: MediFocus MedCenter Preview for Alport's Syndrome Alport's Syndrome: MediFocus MedCenter Preview for Alport's Syndrome ... B Hepatitis C Lyme Disease Shingles Nephrology Alport's Syndrome Hypertension Polycystic Kidney Disease Renal Calculi ... Alport's Syndrome The Medifocus Guide on Alports Syndrome provides answers to the following important questions and medical issues: What are the most common symptoms of Alport's Syndrome? Are there any recognized risk factors for developing Alports Syndrome?

6. Gallaudet University's Genetics Program Home ·. genetics Clinic ·. Summer Programs in genetics ·. Studies in Genetic Deafness alport syndrome. alport syndrome. Ask NOAH About Kidney and Urologic Diseases http://depts.gallaudet.edu/genetics/resources1.htm

Home Genetics Clinic Summer Programs in Genetics Studies in Genetic Deafness ... Contact Genetics Program Department of Biology General Genetic Deafness Resources Alexander Graham Bell Association for the Deaf and Hard of Hearing Genetics and Deafness - Ten Syndromes Most Commonly Associated with Hearing Impairment March of Dimes Birth Defects Foundation National Institute on Deafness and Other Communication Disorders (NIDCD) ... Facts on Infant Hearing Loss Blindness and Deafness Resources DB-Link (National Information Clearinghouse on Children who are Deaf-Blind) Deaf-Blind Perspectives Helen Keller National Center for Deaf-Blind Youth and Adults (HKNC) The Foundation Fighting Blindness Connexin deafness National Center for Biotechnology Information (NCBI): Connexin 26 Alport syndrome Alport syndrome Ask NOAH About: Kidney and Urologic Diseases eMedicine: Alport syndrome MEDLINEplus Medical Encyclopedia: Alport syndrome ... National Organization for Rare Disorders Brachio-oto-renal (BOR) syndrome Boys Town National Research Hospital: BOR syndrome Jervell and Lange-Nielsen syndrome (Long-QT syndrome) NCBI: Long-QT syndrome Pendred syndrome What is Pendred Syndrome?: MedicineNet

7. Current Progress - Parents - Boys Town National Research Hospital progress in the field of hereditary deafness has proceeded more slowly than progressin other areas of human genetics. alport syndrome, XLR, Xq, COL4A5, 8. http://www.boystownhospital.org/parents/info/genetics/current.asp

Genetics and Deafness - Current Progress in Finding Genes Involved in Hearing Impairment Heredity is the most important factor in the cause of significant hearing impairment in humans. It has been estimated that well over half of all cases of childhood deafness have a genetic cause. A better understanding of the nature of the genes which cause these hearing problems promises to improve our diagnostic abilities and will lay the foundation for research into more effective methods of treatment and remediation. The problems surrounding the study of hereditary deafness are rather daunting. The number of genes involved is large (McKusick's catalogue lists several hundred syndromes that have hearing impairment as one component) and many cases are due to different genes. But we don't yet have the clinical tools to separate cases into fully useful categories.

8. KFOC - Alport Syndrome As outlined above, the genetics of alport syndrome is complex. Diagnosisin young children 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.

9. Alport Syndrome Forensic Medicine Gastroenterology General Medicine. genetics. Geriatrics Gynecology Headache Health Care Providers Health alport syndrome. alport syndrome http//alport.cjb.net http://www.medlina.com/alport_syndrome.htm

100 Hot Books 100 Hot CDs 100 Hot Videos 100 Hot DVDs ... Women's Health T he Web MEDLINA.com CDC WHO FDA NIH Search: All Products Books Magazines Popular Music Classical Music Video DVD Baby Electronics Software Outdoor Living Wireless Phones Keywords: CATEGORIES Home Up Aase syndrome Aarskog syndrome ... Alpha 1Antitrypsin Deficiency Alport Syndrome Alstrom Syndrome Amyloidosis Apert Syndrome Arthrogryposis Alport Syndrome Alport Syndrome - http://alport.cjb.net Extensive data base for this disease along with message board, chat and resources. Pediatric Database - http://www.icondata.com A definition of alport syndrome followed by clinical features, investigation and management. ThriveOnline - http://thriveonline.oxygen.com An overview of alport syndrome including symptoms, treatment and prevention. Iafrica Ask the Doctor - http://health.iafrica.com A mother asks for and receives general information about alport syndrome. Fact Sheets - http://www.boystown.org A brief article about alport syndrome, its symptoms, diagnosis, who gets it and a discussion about hearing loss. A Healthy Me - http://www.ahealthyme.com

10. CCHS Clinical Digital Library Access document Hereditary Nephritis, Including alport syndrome Access documentPathogenesis and genetics of Hereditary Nephritis Access document. GeneClinics 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 15th Ed.-2001: Table of contents Health Sciences Library subscription INFO Chapter 273: Pathogenesis of Glomerular Injury Table of contents Introduction: Access document Clinicopathologic Correlates in Glomerular Disease: Access document Nomenclature: Access document Major Clinicopathologic Entities: Access document Major Determinants of Glomerular Injury: Access document Introduction: Access document Primary Insult: Access document Site of Injury: Access document Speed of Onset, Intensity, and Extent of Injury: Access document Inherited Glomerular Diseases: Access document Glomerular Adaptation to Nephron Loss: Access document Chapter 275: Glomerulopathies Associated with Multisystem Diseases: Table of contents Introduction: Access document Hereditary Diseases with Glomerular Involvement: Access document Alport's Syndrome: Access document Chapter 351: Inherited Disorders of Connective Tissue: Table of contents Alport Syndrome: Access document Treatment: Access document Brenner and Rector's The Kidney 7th Ed.-2004 (MD Consult):

11. NEJM -- Alport's Syndrome, Goodpasture's Syndrome, And Type IV Collagen Review Article from The New England Journal of Medicine alport's syndrome, Goodpasture's syndrome, and Type IV Collagen Structure and Distribution of Type IV Collagen. alport's syndrome. genetics. Pathogenesis http://www.nejm.org/cgi/content/extract/348/25/2543

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Please sign in for full text and personal services Previous Volume 348:2543-2556 June 19, 2003 Number 25 Next Alport's Syndrome, Goodpasture's Syndrome, and Type IV Collagen Billy G. Hudson, Ph.D., Karl Tryggvason, M.D., Ph.D., Munirathinam Sundaramoorthy, Ph.D., and Eric G. Neilson, M.D. Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings. Full Text PDF PDA Full Text Add to Personal Archive ... Chapters at Harrison's Basement membranes form a complex surface on which epithelial cells reside. These membranes provide morphogenic cues that determine the fate of cells, the polarization of subcellular constituents, and the location of cell receptors and transporters. Basement membranes are assembled through an interweaving of type IV collagen (collagen IV) with laminins, nidogen, and sulfated proteoglycans. Collagen IV belongs to a family of collagenous proteins that has at least 25 distinct members. The and genes Full Text of this Article Structure and Distribution of Type IV Collagen Alport's Syndrome Genetics Pathogenesis Clinical Presentation Findings on Kidney Biopsy Treatment Goodpasture's Syndrome Genetics Pathogenesis Clinical Presentation Findings on Kidney Biopsy Treatment Summary This article has been cited by other articles: Zeisberg, M., Muller, G. A., Kalluri, R. (2004). Are there endogenous molecules that protect kidneys from injury? The case for bone morphogenic protein-7 (BMP-7).

12. Disease Directory : Urological Disorders : Glomerular : Alport Syndrome Review Article from The New England Journal of Medicine alport s syndrome,Goodpasture s syndrome, and Type IV Collagen. alport s syndrome. genetics. http://www.diseasedirectory.net/Urological_Disorders/Glomerular/Alport_Syndrome/

Sunday, June 06, 2004 Urological Disorders Glomerular Alport Syndrome Glomerulonephritis ... Glomerular : Alport Syndrome A Healthy Me - A detailed look at alport syndrome and its causes, symptoms, diagnosis, treatment and prevention. Alport Syndrome - Extensive data base for this disease along with message board, chat and resources. Alport syndrome - Alport syndrome. Definition. Description. Alport syndrome affects about one in 5,000 Americans, striking men more often and severely than women. Alport syndrome - Alport syndrome. Definition: Alport Causes, incidence, and risk factors: Alport syndrome is very similar to hereditary nephritis. There ALPORT SYNDROME - Alport Syndrome Because of the way Alport Syndrome is inherited, the disease tends to be more severe in men than in women. What are the symptoms? Alport syndrome Alport syndrome - MAIN SEARCH INDEX. Alport syndrome. Description. Alport syndrome affects about one in 5,000 Americans, striking men more often and severely than women. Alport Syndrome Clinical Resources - Alport Syndrome Clinical Resources. Miscellaneous Alport Syndrome Clinical Resources: Health Reviews for Primary Care Providers on the Internet: Homepage: Alport Syndrome Information - home > urological disorders > glomerular > alport syndrome Alport Syndrome. University of Newcastle-upon-Tyne Medical Dictionary: "Alport syndrome".

13. The Infography About Alport's Syndrome A professor whose research specialty is alport's syndrome recommends these sources. Molecular Pathology and genetics of alport syndrome, Contributions to Nephrology (Contrib http://www.infography.com/content/091343595688.html

Search The Infography: Alport's Syndrome The following sources are recommended by a professor whose research specialty is Alport's Syndrome. Six Superlative Sources CL Atkin. Alport Syndrome Home Page 1/96 to present. http://www.cc.utah.edu/~cla6202/ASHP.htm MC Gregory, CL Atkin. Alport's Syndrome, Fabry's Disease, and Nail-Patella Syndrome, chapter 19 in RW Schrier, CW Gottschalk (editors), Diseases of the Kidney, 6th ed, Little, Brown and Co., pp. 561-590, 1997. ISBN 0-316-77456-1. Clifford E. Kashtan. Alport Syndrome and Thin Glomerular Basement Membrane Disease, Disease Of The Month in Journal of the American Society of Nephrology, Volume 9, pages 1736-1750, September 1998. Karl Tryggvason, editor. Molecular Pathology and Genetics of Alport Syndrome, Contributions to Nephrology (Contrib. Nephrol. Basel), Volume 117, S. Karger AG, Basel, 1996. Karl Tryggvason. Basement Membrane Diseases http://www.mbb.ki.se/matrix/bdise.html Search The Infography Advanced Search Page Through The Infography Alphabetically Algebras of Smooth Functions Alport's Syndrome Alzheimer's Disease About The Infography published by Fields of Knowledge Clicking this button will display the HTML code.

14. Entrez PubMed recessive and Xlinked alport syndromes, which have Israeli family with Fechtner syndromeplus impaired Chromosomes, Human, Pair 22/genetics*; Collagen/genetics; http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?holding=npg&cmd=Retrieve&db=PubMed

15. Entrez PubMed alport syndrome in the light of current molecular genetics Article inFrench Pirson Y. Service de Nephrologie, Cliniques universitaires St. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstra

16. MediFocus MedCenter Preview For Alport S Syndrome Kidney International. 1997; alport s syndrome. Journal of Medical genetics. 1997;alport syndrome. Kidney International Supplement. 1997; alport syndrome. http://www.studentnow.com/health/nk001.htm

17. NEJM -- Alport's Syndrome, Goodpasture's Syndrome, And Type IV Collagen . Full Text of this Article. Structure and Distribution of Type IV Collagen.alport s syndrome. genetics. Pathogenesis. Clinical Presentation. http://content.nejm.org/cgi/content/short/348/25/2543

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Please sign in for full text and personal services Previous Volume 348:2543-2556 June 19, 2003 Number 25 Next Alport's Syndrome, Goodpasture's Syndrome, and Type IV Collagen Billy G. Hudson, Ph.D., Karl Tryggvason, M.D., Ph.D., Munirathinam Sundaramoorthy, Ph.D., and Eric G. Neilson, M.D. Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings. Full Text PDF PDA Full Text Add to Personal Archive ... Chapters at Harrison's Basement membranes form a complex surface on which epithelial cells reside. These membranes provide morphogenic cues that determine the fate of cells, the polarization of subcellular constituents, and the location of cell receptors and transporters. Basement membranes are assembled through an interweaving of type IV collagen (collagen IV) with laminins, nidogen, and sulfated proteoglycans. Collagen IV belongs to a family of collagenous proteins that has at least 25 distinct members. The and genes Full Text of this Article Structure and Distribution of Type IV Collagen Alport's Syndrome Genetics Pathogenesis Clinical Presentation Findings on Kidney Biopsy Treatment Goodpasture's Syndrome Genetics Pathogenesis Clinical Presentation Findings on Kidney Biopsy Treatment Summary This article has been cited by other articles: Zeisberg, M., Muller, G. A., Kalluri, R. (2004). Are there endogenous molecules that protect kidneys from injury? The case for bone morphogenic protein-7 (BMP-7).

18. NEJM -- Sign In 61 , 62 Clinical variability among kindreds with alport s syndrome reflects thecomplexity of collagen genetics (involving one of three loci with multiple http://content.nejm.org/cgi/content/full/348/25/2543

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Access to this article requires sign-in. Subscribers have access to all content. Other registered users have access to research articles six months old and older. If you're a registered user or an activated subscriber SIGN IN User Name Password Forgot your Password? Click here and we'll e-mail it to you. If you do not use cookies, sign in here. Remember my User Name and Password. PURCHASE THIS ARTICLE Purchase a single article and get immediate online access for just $10. If you're a subscriber but have not yet activated your full online access If you'd like to purchase a subscription to NEJM If you're not a subscriber and want FREE limited access... ACTIVATE YOUR SUBSCRIPTION Subscribers to NEJM are entitled to full access to all online content and features, including 20 FREE online CME exams. OR Receive full access to ALL current content and online features including Personal Archives, PDF article downloads, PDA access, E-mail alerts and 20 FREE online CME exams. OR Receive FREE online access to NEJM Original and Special Articles 6 months after publication and choose to receive the Table of Contents and notification of early release articles via e-mail.

19. Karger Publishers Vol. 117. Molecular Pathology and genetics of alport syndrome. Editor(s) Tryggvason,K. (Oulu). Molecular Pathology and genetics of alport syndrome. http://content.karger.com/ProdukteDB/produkte.asp?Aktion=showproducts&ProduktNr=

20. Alport Syndrome,Hereditary Nephritis,Alport Syndrome,Hereditary Nephritis,Heredi Genetic Counselling. As outlined above, the genetics of alport syndromeis complex. Diagnosis genetics and Deafness alport syndrome alport http://www.icomm.ca/geneinfo/alport.htm

Alport Syndrome,Hereditary Nephritis,alport yndrome,hereditary nephritis,Alport Syndrome,Hereditary Nephritis,Hereditary Nephritis and Nerve Deafness,Hereditary Nephropathy and Deafness For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY Alport Syndrome also known as: Hereditary Nephritis Nephritis and Nerve Deafness, Hereditary Nephropathy and Deafness, Hereditary Disorder Subdivisions Alport Syndrome, Type I Alport Syndrome Type II Alport Syndrome, Type III Alport Syndrome, Type IV Alport Syndrome, Type V Epstein Syndrome (Type V) Alport Syndrome, Type VI (as defined by the National Organization for Rare Disorders Alport Syndrome is a group of hereditary kidney disorders characterized by progressive deterioration of the glomerular basement membranes (GBMs), which are microscopic parts of the kidney. This deterioration may lead to chronic renal (kidney) failure causing excess waste products in the blood (uremia). Eventually severe renal failure (end-stage renal disease or ESRD) may develop.

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