21. Search Result For "Alport Syndrome" alport syndrome; alport syndrome; alport syndrome; genetics and Deafness alportsyndrome; Hereditary Nephritis (alport syndrome); Hereditary Nephritis http://www.noah-health.org/search/results.php?lang=1&keyword=Alport Syndrome&dty

22. Alport Syndrome (Hereditary Nephritis) alport syndrome (Hereditary Nephritis) Updated October 15, 2004 genetics andDeafness alport syndrome Boy s Town National Research Hospital, Omaha NE http://www.noah-health.org/en/kidver/kidney/specific/alport.html

Skip navigation About NOAH Help English Spanish Both Advanced NOAH Kidney and Liver Change text size: Alport Syndrome (Hereditary Nephritis) Updated: October 15, 2004 Alport Syndrome Kidney Foundation of Canada (also in French Alport Syndrome Gene Clinics Alport Syndrome National Kidney Foundation Genetics and Deafness: Alport Syndrome Boy's Town National Research Hospital, Omaha NE Hereditary Nephritis (Alport Syndrome) Australian Kidney Foundation Hereditary Nephritis: Alport Syndrome National Institute of Diabetes and Digestive and Kidney Diseases Nephritis Merck Manual, 2nd Home Edition Researched by NOAH Contributing Editor: Gretchen Hazlin, The New York Academy of Medicine NOAH Kidney and Liver Kidney Diseases Specific Disease > Alport Syndrome (Hereditary Nephritis) Health Topics Index A to Z Page of the Month Advanced Search ... Feedback

23. Alport Syndrome -- Facts, Info, And Encyclopedia Article alport syndrome is a (Click link for more info and facts about genetic) genetic alport syndrome is caused by ((genetics) any event that changes genetic http://www.absoluteastronomy.com/encyclopedia/a/al/alport_syndrome.htm

Alport syndrome [Categories: Nephrology, Eponymous diseases, Genetic disorders] Alport syndrome is a (Click link for more info and facts about genetic) genetic condition characterized by the progressive loss of (Either of two bean-shaped excretory organs that filter wastes (especially urea) from the blood and excrete them and water in urine; urine passes out of the kidney through ureters to the bladder) kidney function and hearing. Alport syndrome can also affect the eyes. The presence of (The fluid (red in vertebrates) that is pumped by the heart) blood in the (Liquid excretory product) urine (The presence of blood in the urine; often a symptom of urinary tract disease) hematuria ) is almost always found in this condition. It was first identified in a British family by Dr. Cecil A. Alport in 1927. Alport syndrome is caused by ((genetics) any event that changes genetic structure; any alteration in the inherited nucleic acid sequence of the genotype of an organism) mutation s in COL4A3, COL4A4, and COL4A5, (A fibrous scleroprotein in bone and cartilage and tendon and other connective tissue; yields gelatin on boiling)

24. Abstracts For References 14-16 Of 'Hereditary Nephritis (Alport Syndrome)' TI Autosomal dominant alport syndrome caused by a COL4A3 splice site mutation . AD - Department of Molecular Cell Biology and genetics, http://patients.uptodate.com/abstract.asp?TR=glomrdis/7197&viewAbs=14~15~16&titl

25. Karger Publishers Molecular Pathology and genetics of alport syndrome Nephrology geneticsPathology Epidemiology Internal Medicine Molecular Biology Pediatrics Surgery http://content.karger.com/ProdukteDB/produkte.asp?Aktion=showproducts&ProduktNr=

26. Nature Publishing Group - 404 Page The European Journal of Human genetics is the official Journal of the Maleto-male transmission of X-linked alport syndrome in a boy with a 47,XXY http://www.nature.com/ejhg/journal/vaop/ncurrent/abs/5201452a.html

404 - File not found Sorry, the file you have requested cannot be found on any of our servers. Please check the file name and try again. For your convenience, we have listed below an extended menu of Nature Publishing Group’s sites and services www.nature.com Nature news@nature Nature Biotechnology ... Natureevents NPG subject areas @nature.com Biotechnology Cancer (Cancer Update) Chemistry Dentistry ... German Gateway

27. Accessing Article alport syndrome (AS) is a genetically heterogeneous renal hereditary disease . Klinefelter syndrome (KS) is the most common genetic cause of human male http://www.nature.com/ejhg/journal/vaop/ncurrent/full/5201452a.html

NATURE.COM NEWS@NATURE.COM NATUREJOBS NATUREEVENTS ... Help E-MAIL: PASSWORD: Save password Forgotten password? Most users gain access to full text articles through a site license. This is available to institutional customers only. For further information visit the Librarian Gateway. Full-text articles are also available through a number of other options: I want to purchase this article Select this option to view this article immediately and access it for seven days. Price: US$30* In order to purchase this article you must be a registered user. Click here to register or log in above. I want to subscribe to European Journal of Human Genetics Select this option to purchase a personal subscription. I am already a personal subscriber to European Journal of Human Genetics Personal subscribers to European Journal of Human Genetics can view this article. To do this you need to associate your subscription with your registration via the My Account page. If you already have an active online subscription, log in via the login box in the top right-hand corner of this page. I am a member of the European Society of Human Genetics Members of the European Society of Human Genetics receive access to European Journal of Human Genetics as part of their membership.

28. Basic Genetics - Causes Of Hearing Loss - My Baby's Hearing There are over 400 known genetic causes involving hearing loss. alport syndrome Hearing loss in alport syndrome may be sensorineural, conductive or http://www.babyhearing.org/HearingAmplification/Causes/genetics.asp

Causes of Hearing Loss Basic Genetics What Are the Most Common Forms of Genetic Hearing Loss? Of the 50% of the genetic forms of hearing loss, an estimated 70% are due to recessive causes, about 15% have a dominant cause; and the remaining 15% include all the other forms of inheritance. GENETIC RECESSIVE 70% NON-GENETIC AND UNKNOWN DOMINANT 15% OTHER GENETIC 15% Genetic scientists subdivide genetic hearing loss into two general categories: "Non-Syndromic" (meaning hearing loss and nothing else) and "Syndromic" (meaning hearing loss with other clinical findings). By far, the more common is Non-syndromic hearing loss which includes 2/3 of all genetic hearing losses. SYNDROMIC NON-SYNDROMIC RECESSIVE RECESSIVE NON-GENETIC AND UNKNOWN DOMINANT DOMINANT OTHER GENETIC OTHER GENETIC What is the Most Common form of genetic hearing loss?

29. Nephritis, Hereditary - Alport's Syndrome - Information Page With HONselect view the robot description of the site alport syndrome genetics Home Reference ghr.nlm.nih.gov 3 view the HON description of the site http://www.hon.ch/HONselect/RareDiseases/EN/C12.740.700.742.html

InitBulle("navy","#F8F8F8","#000066",1); HONcode sites All Web sites HONselect News ... Images HONselect Search English French German Spanish Portuguese the word the part of word in MeSH term in MeSH term and description Information on "Nephritis, Hereditary": Medical hierarchy and definition Research Articles Web resources Medical Images Medical News Medical Conferences Clinical Trials Hierarchy English French German Spanish Portuguese Nephritis, Hereditary Definition: Hereditary disease characterized initially by hematuria and slowly progressing to renal insufficiency. It is sometimes associated with perceptual deafness and/or congenital ocular defects. Synonym(s): Alport's Syndrome / Nephritis, Familial / Alport Syndrome / Alports Syndrome / Browse New search Web resources for "Nephritis, Hereditary" English French German = Site with HON description - = Site with a robot description info: enter the site: (click below) domain of the site: HONcode - eMedicine - Alport Syndrome : Article by Prasad Devarajan, MD www.emedicine.com Alport Syndrome Home Page www.cc.utah.edu ... ghr.nlm.nih.gov HONcode - NORD - National Organization for Rare Disorders, Inc.

30. Disorders & Syndromes Info on genetics • alport syndrome • Auditory Neuropathy • Auditory ProcessingDisorders • CHARGE syndrome • Connexion 26 • Congenital Ear Problems • Large http://www.ibwebs.com/Disorders.htm

Happy Birthday Beth! Disorders and syndromes which cause hearing loss. This list is by no means inclusive. I have described the disorders to the best of my knowledge. These statements should not be meant as the absolute final word. Always discuss any issues, concerns, or questions you have with your doctor. (this page still under construction) Info on Genetics Alport Syndrome Auditory Neuropathy Auditory Processing Disorders ... Pendred Syndrome General Information Hearing and hearing disorders Hearing Disorders Hearing and Balance from the National Institutes of Health Disorders This is a very good list of disorders which cause hearing loss. Medical Resources Society for Neuroscience: Brain Briefings Very interesting site with useful information on a variety of disorders, including hearing loss. Center for Hearing Loss in Children at Boys Town Sudden Sensorineural Hearing Loss Disorders This is located at my friend Kay's web site. She has much more listed than I do. Please go here if you are looking for something I may not have listed here. Information on Genetics HHH syndromic Contains information on Alport Syndrome, Branchio-Oto-Renal Syndrome, Jervell and Lange-Nielsen, Mitochondrial

31. New Zealand Kidney Foundation - Fact Sheets, Alport’s Syndrome alport’s syndrome is a relatively uncommon genetic disease that causes How is alport’s inherited? The genetics of the syndrome are quite complicated. http://www.nzkidneyfoundation.co.nz/main/article_000056.html

S E A R C H About Us Profile Contact Us Brochures ... Back to Fact Sheets : Alport’s syndrome Alport’s syndrome What is Alport’s syndrome? Alport’s syndrome is a relatively uncommon genetic disease that causes progressive kidney damage. The disease affects the tiny blood vessels of the kidney (the glomeruli), causing a gradual but persistent process of destruction that reduces their capacity to filter waste from the blood, leading to kidney failure in many cases. Alport’s syndrome affects about 2 in 10,000 people. It is usually much more severe in men than women. Males with Alport’s syndrome inevitably develop kidney failure, but kidney failure in females is unusual. The age at which boys with Alport’s syndrome develop kidney failure varies from family to family. It may occur as early as 15-20 years of age, but in some families, kidney failure does not develop until the men are 40-50 years of age. How is Alport’s inherited? The genetics of the syndrome are quite complicated. The gene for the disease is located on the X chromosome, which is one of the chromosomes that determines a person’s sex. Women have two X chromosomes, men have an X and a Y chromosome. About 15-20 percent of those with Alport’s syndrome do not have a family history of the disease. In these cased, Alport’s occurs as a result of a new mutation in the gene that determines the presence of the condition. If this is the case, the affected person will be the first member of the family to develop the disease.

32. JN 2000; Vol.13 N°1 15-19 alport syndrome and thin glomerular basement disease. and *4(IV) collagengenes in autosomal recessive alport syndrome. Nature genetics 1994; 8 7782. http://www.sin-italy.org/jnonline/vol13n1/15.html

Table of Contents Review JNEPHROL 2000; 13: 15-19 Thin glomerular basement membrane disease Giovanni M. Frascá , Andrea Onetti-Muda , Alessandra Renieri Nephrology and Dialysis Unit, "St. Orsola" Hospital, Bologna - Italy Department of Experimental Medicine and Pathology, "La Sapienza" University, Rome - Italy Institute of Medical Genetics, "Le Scotte" Polyclinic Hospital, Siena - Italy Key words: Thin basement membrane disease, Benign familial hematuria, Alport syndrome, Type IV collagen, Glomerulopathies Introduction Thin glomerular basement membrane disease (TBMD) is a definition frequently used for patients with isolated persistent microscopic hematuria and thinning of the glomerular basement membrane (GBM) at electron microscopy examination, without the typical ultrastructural alterations of Alport syndrome (AS). Since a first-degree relative is frequently affected and usually patients do not progress to end-stage renal disease (ESRD), it has also been called "benign familial hematuria" (BFH). This definition, however, is no longer satisfactory, since the disease may be sporadic, and no familial occurence may be evident; in addition, the term "benign" is misleading because some patients may progress towards chronic renal failure (CRF). Again, the name itself "thin glomerular basement membrane disease", is not entirely appropriate since it is not yet clear whether this ultrastructural alteration is always pathological; thin GBM is not a specific finding and may also be detected in early AS or in association with other glomerular diseases.

33. Current Opinion In Pediatrics - UserLogin Molecular genetics has aided our understanding of the pathophysiology of many Unlike alport syndrome, congenital nephrotic syndrome is a disease of http://www.co-pediatrics.com/pt/re/copeds/fulltext.00008480-200404000-00008.htm

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34. Hearing Loss, Ear Infection, Otitis Media, Effusion, Ome, Fluid In The Ear, Otos advancement in the fields of genetics and molecular biology have allowed us to alport syndrome alport syndrome is a x-link disorder that usually http://www.pediatric-ent.com/learning/problems/hearing_loss.htm

Hearing Loss in Children Hearing loss in children can be frightening and confusing to parents. Children with otitis media (ear infection) or otitis media with effusion (OME) (fluid in the ear), may have temporary hearing loss due to the fluid in the middle ear. Upon removal of the fluid, hearing usually returns to normal. This is known as conductive hearing loss. This usually means that sound waves which hit the ear drum have a difficult time being transmitted from the ear drum into the inner ear (hearing nerve). Sensorineural hearing loss means the sound reaches the inner ear, but some defect in the hearing organ (cochlea), nerve, or brain is the cause of the hearing loss. A less common form of hearing loss is known as mixed hearing loss. In this form of hearing loss, there are components of both conductive hearing loss and sensorineural (nerve) hearing loss.

35. Arch Ophthalmol -- Abstract: Immunohistochemical And Molecular Genetic Evidence Ophthalmic Molecular genetics Methods The anterior lens capsule obtained froma 54year-old man with anterior lenticonus associated with alport syndrome http://archopht.ama-assn.org/cgi/content/abstract/121/6/846

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 121 No. 6, June 2003 Featured Link E-mail Alerts Ophthalmic Molecular Genetics Article Options Full text PDF Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Ohkubo S Sado Y ISI Web of Science (1) Contact me when this article is cited Topic Collections Genetics Genetic Disorders Cataracts/ Lens Topic Collection Alerts Immunohistochemical and Molecular Genetic Evidence for Type IV Collagen 5 Chain Abnormality in the Anterior Lenticonus Associated With Alport Syndrome Shinji Ohkubo, MD Hisashi Takeda, MD Tomomi Higashide, MD Mari Ito, MD Mayumi Sakurai, MSc Yutaka Shirao, MD Takashi Yanagida, MD Yoshio Oda, MD Yoshikazu Sado, MD Arch Ophthalmol.

36. Internet Scientific Publications, LLC. Molecular genetics of alport syndrome. Kidney Int 1993; 4338. 5. Hudson, BG,Kalluri, R, Gunwar, S, et al. The pathogenesis of alport syndrome involves http://www.ispub.com/ostia/index.php?xmlFilePath=journals/ijne/vol1n1/alport.xml

37. RETINA - Fulltext: Volume 21(1) February 2001 P 89-92 A Case Of Alport's Syndrom From the Ophthalmic genetics and Visual Function Branch, National Eye Institute, alport s syndrome is the prototype of basement membrane disease http://www.retinajournal.com/pt/re/retina/fulltext.00006982-200102000-00025.htm

LWWOnline LOGIN eALERTS REGISTER ... Archive A Case of Alport's Syndrome and... ARTICLE LINKS: References (5) Permissions View full size inline images Retina Volume 21(1) February 2001 pp 89-92 A Case of Alport's Syndrome and Retinal Degeneration TSILOU, EKATERINI MD; RUBIN, BENJAMIN I. MD; CARUSO, RAFAEL C. MD; KAISER-KUPFER, MURIEL MD From the Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland. Reprint requests: Ekaterini Tsilou, MD, Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, 10 Center Drive, MSC-1860, Building 10, Room 10N226, Bethesda, MD 20892; e-mail: tsiloue@intra.nei.nih.gov The authors have no proprietary interests. Alport's syndrome is the prototype of basement membrane disease characterized by a structural defect of the noncollagenous portion of type IV collagen. Eighty-five percent of patients show X-linked inheritance but autosomal recessive and dominant forms also have been described. The X-linked and autosomal recessive forms have in common renal, audiologic, and ophthalmologic manifestations. Fleck and dot retinopathy, anterior lenticonus, and posterior polymorphous-like dystrophy of the cornea are the most common eye manifestations. Several other ocular manifestations have been described but not seen uniformly. Ocular abnormalities have not clearly been described in the rare autosomal dominant form. The purpose of this report is to present a patient with Alport's syndrome and evidence of moderately severe retinal degeneration.

38. THE MERCK MANUAL--SECOND HOME EDITION, Index: GE genetics. genetics. of alport s syndrome. alport s syndrome. of Alzheimer s disease.Dementia Alzheimer s Disease. of Bartter s syndrome http://www.merck.com/mmhe/index/ind_ge.html

var externalLinkWarning = "The link you have selected will take you to a site outside Merck and The Merck Manuals.*n*nThe Merck Manuals do not review or control the content of any non-Merck site. The Merck Manuals do not endorse and are not responsible for the accuracy, content, practices, or standards of any non-Merck sources."; Search The Second Home Edition , Online Version Search Index A B C D ... Z Sections Accidents and Injuries Blood Disorders Bone, Joint, and Muscle Disorders Brain, Spinal Cord, and Nerve Disorders ... Women's Health Issues Resources Anatomical Drawings Multimedia Pronunciations Weights and Measures ... , Online Version Index ga ge gh gi ... gy Type in the first few letters of a word to get there faster: Go Ge Gels Treatment: Topical Preparations Gemfibrozil Lipid-Lowering Drugs Gemtuzumab ozogamicin Immunotherapy in cancer Chemotherapy Drugs in leukemia Acute Myelocytic Leukemia: Prognosis and Treatment Gender identity Gender Identity Social and Emotional Development disorders of Genital Defects Gene(s) Genetics Gene Abnormalities Examples of Genetic Disorders Inheriting Abnormal Recessive Genes ... Inheriting Abnormal Recessive X-Linked Genes abnormalities of Gene Abnormalities Examples of Genetic Disorders Inheriting Abnormal Recessive Genes Inheriting Abnormal Recessive X-Linked Genes gene therapy for Gene Therapy cancer Gene Abnormalities: Genes That Cause Cancer expression of Gene Abnormalities: Gene Expression mitochondrial Gene Abnormalities: Abnormal Mitochondrial Genes radioactive labeling of Gene Technology tumor suppressor

39. Centre For Genetics Education:: Disorder Information And Support AlphaThalassemia Mental Retardation syndrome Deletion ATR 16 alport syndromeAlstrom syndrome Alzheimer Disease *** Amyotrophic Lateral Sclerosis http://www.genetics.com.au/conditions/main.htm

A Aarskog Syndrome Achondroplasia Acoustic Neuroma Acrocallosal Syndrome Acromegaly Adams Oliver Syndrome Addison Disease Adrenoleukodystrophy Agenesis Of Corpus Callosum Aicardi Syndrome Alagille Syndrome Albinism Albright Hereditary Osteodystrophy Alexander Disease Alopecia Alpers Syndrome Alpha 1 Antitrypsin Deficiency Alpha-Thalassaemia X Linked Mental Retardation Syndrome Alpha-Thalassemia Mental Retardation Syndrome Deletion ATR 16 Alport Syndrome Alstrom Syndrome Alzheimer Disease *** Amyotrophic Lateral Sclerosis Androgen Insensitivity Syndzrome Anencephaly *** Angelman Syndrome Angioedema Ankylosing Spondylitis Apert Syndrome Aplasia Cutis Congenita Argininosuccinic Aciduria Arthrogryposis Multiplex Asperger Syndrome Ataxia Telangiectasia Autism Autoimmune Lymphoproliferative Syndrome Autoimmune Polyglandular Disease Type 1 B Bannayan Riley Ruvalcaba Syndrome Bardet Biedl Syndrome Bartter Syndrome Batten Disease Beckwith Wiedemann Syndrome Behcet Syndrome Behr Syndrome Bells Palsy Benign Essential Tremor Bipolar Disorder*** Blackfan Diamond Anemia Blepharophimosis Ptosis Epicanthus Inversus Syndrome Bloom Syndrome Borjeson Forssman Lehmann Syndrome Bowel Cancer *** Branchiootorenal Dysplasia Breast Cancer*** C Cadasil Camptomelic Dysplasia Cancer Cardiac Disorders *** Cardio Auditory Syndrome Cardiovascular Disease Carnitine Deficiency Syndromes Carpal Tunnel Syndrome Carpenter Syndrome Cartilage Hair Hypoplasia Cat Eye Syndrome Cavernous Malformations Ccc Syndrome Central Core Disease Cerebellar Agenesis Cerebral Palsy Cerebro Ocul0 Facio Skeletal Syndrome

40. Hearing Loss - Frequently Asked Questions - Families - Department Of Otolaryngol a known syndrome, advancement in the fields of genetics and molecular biology alport syndrome alport syndrome is a x-link disorder that usually http://www.chmkids.org/chm/ent/families/faq/hearingloss.html

Greetings from the Chief Meet our Patients Conditions Glossary Treatments Frequently Asked Questions Make an Appointment Second Opinion Kids zone Resources Meet Our Team Department Résumé History The Carls Foundation Contact Us ENT Research Referring Physicians Fellowship American Academy of Pediatrics Referral Policies Links Our Services Community Programs Online Services RIM's Annual Disability Expo Pioneers for Peace Power of One Caregiver College Regular Search Physician Name DMC Web Sites DMC.org CHMKids.org DRHUHC.org HarperHospital.org HVSH.org Hutzel.org MichiganOrthopaedic.org RIMRehab.org SinaiGrace.org DMCIC.org Kresge-Eye.org DMCPharmacy.org Families About Us Medical Professionals Community Programs ... Frequently Asked Questions >> Hearing Loss in Kids Hearing Loss in Kids What is hearing loss? Hearing loss is any amount of impairment in hearing, from temporary and slight hearing loss to profound hearing loss. Ear infections that produce fluid in the middle ear can cause temporary hearing loss that goes away when the fluid is removed. Here are some other types of hearing loss: Conductive hearing loss : sound waves which hit the ear drum are not properly transmitted from the ear drum into the inner ear where the hearing nerve resides.

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