21. BookFinder.com: Molecular Pathology And Genetics Of Alport Syndrome Molecular Pathology and genetics of alport syndrome. by K. Tryggvason. TitleMolecular Pathology and genetics of alport syndrome. Author K. Tryggvason. http://www.bookfinder.com/dir/i/Molecular_Pathology_and_Genetics_of_Alport_Syndr

Search About Interact Help Molecular Pathology and Genetics of Alport Syndrome by K. Tryggvason ISBN: Title: Molecular Pathology and Genetics of Alport Syndrome Author: K. Tryggvason Publisher: Karger AG, S. Edition: Hardcover Found a mistake in this data? Conditions of use Search About ... Contact us...

22. Blackwell Synergy - Cookie Absent 4. Shaw RF, Kallen RJ Population genetics of alport s syndrome Hypothesisof abnormal segregation and the necessary existence of mutation. http://www.blackwell-synergy.com/links/doi/10.1111/j.1523-1755.2004.00560.x/enha

 Home An Error Occurred Setting Your User Cookie A cookie is a small amount of information that a web site copies onto your hard drive. Synergy uses cookies to improve performance by remembering that you are logged in when you go from page to page. If the cookie cannot be set correctly, then Synergy cannot determine whether you are logged in and a new session will be created for each page you visit. This slows the system down. Therefore, you must accept the Synergy cookie to use the system. What Gets Stored in a Cookie? Synergy only stores a session ID in the cookie, no other information is captured. In general, only the information that you provide, or the choices you make while visiting a web site, can be stored in a cookie. For example, the site cannot determine your email name unless you choose to type it. Allowing a web site to create a cookie does not give that or any other site access to the rest of your computer, and only the site that created the cookie can read it. Please read our for more information about data collected on this site.

23. Blackwell Synergy - Cookie Absent condition 4. The genetics of alport syndrome was a hotly debated topic, untilthe seminal report of O Neill in 1978 5, followed by Hasstedt 6 in 1983. http://www.blackwell-synergy.com/links/doi/10.1111/j.1523-1755.2004.00560.x/abs/

 Home An Error Occurred Setting Your User Cookie A cookie is a small amount of information that a web site copies onto your hard drive. Synergy uses cookies to improve performance by remembering that you are logged in when you go from page to page. If the cookie cannot be set correctly, then Synergy cannot determine whether you are logged in and a new session will be created for each page you visit. This slows the system down. Therefore, you must accept the Synergy cookie to use the system. What Gets Stored in a Cookie? Synergy only stores a session ID in the cookie, no other information is captured. In general, only the information that you provide, or the choices you make while visiting a web site, can be stored in a cookie. For example, the site cannot determine your email name unless you choose to type it. Allowing a web site to create a cookie does not give that or any other site access to the rest of your computer, and only the site that created the cookie can read it. Please read our for more information about data collected on this site.

24. Welcome To Enh.org - Center For Medical Genetics alport syndrome. One of the characteristic findings of alport syndrome is blood inthe urine that may not be detectable by the naked eye (microcytic hematuria). http://www.enh.org/genetics/conditions.asp?gpid=200&pid=202&id=1089<ype=C

25. Basic Genetics - Causes Of Hearing Loss - My Baby's Hearing http//www.boystownhospital.org/parents/info/genetics/bor.asp. alport syndrome Hearing loss in alport syndrome may be sensorineural, conductive or mixed and 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?

26. Nephritis, Hereditary focuses on alport s syndrome (a genetic disease that causes progressive kidney damage),published in April 2001. Issues covered include the genetics of alport s http://omni.ac.uk/browse/mesh/C0027706L0027706.html

low graphics Nephritis, Hereditary other: Bladder Exstrophy Cryptorchidism Epispadias Glomerulonephritis ... GeneReviews : Alport syndrome Notes for physicians on Alport syndrome (hereditary nephritis). This document includes diagnosis, a clinical description, differential diagnosis, management, genetic counselling, and molecular genetics. Posted in August 2001, this resource forms part of GeneReviews (formerly GeneClinics profile), a peer-reviewed clinical genetic information resource that is funded by the US National Institutes of Health (NIH) and produced by the University of Washington, Seattle. This resource contains a summary and bibliographical references of the review. Free access to the full-text version of the review requires brief registration. Nephritis, Hereditary / genetics Last modified: 03 Jun 2004

27. GeneReviews : Alport Syndrome Notes for physicians on alport syndrome (hereditary nephritis). description, differentialdiagnosis, management, genetic counselling, and molecular genetics. http://omni.ac.uk/whatsnew/detail/4002887.html

low graphics Back to whats new page. GeneReviews : Alport syndrome Notes for physicians on Alport syndrome (hereditary nephritis). This document includes diagnosis, a clinical description, differential diagnosis, management, genetic counselling, and molecular genetics. Posted in August 2001, this resource forms part of GeneReviews (formerly GeneClinics profile), a peer-reviewed clinical genetic information resource that is funded by the US National Institutes of Health (NIH) and produced by the University of Washington, Seattle. This resource contains a summary and bibliographical references of the review. Free access to the full-text version of the review requires brief registration. Nephritis, Hereditary / genetics Last modified: 11 Sep 2003

28. GEMdatabase - Browse Titles with alport syndrome. Topics include summary, diagnosis, clinical description, differentialdiagnosis, management, genetic counseling, and molecular genetics. http://www.gemdatabase.org/GEMDatabase/BrowseTitles.asp?curpage=2

29. Alport's Syndrome - General Practice Notebook about the genetics of this condition is available in the linked menu item. Prevalenceis about 15000. Pathological renal changes in alport s syndrome include http://www.gpnotebook.co.uk/cache/-898957312.htm

Alport's syndrome Alport's syndrome is a hereditary disease of basement membranes which is characterised by sensorineural deafness and renal failure. Inheritance can be X-linked dominant, autosomal dominant and, rarely, autosomal recessive. More information about the genetics of this condition is available in the linked menu item. Prevalence is about 1:5000. Pathological renal changes in Alport's syndrome include thickening of the glomerular basement membrane and splitting of the lamina densa. Click here for more information...

30. UK NKF - Should Members Of The Family Have Tests To Look For Alport's Syndrome? This description of the inheritance of alport s syndrome applies to the 9 out of10 more complicated, and advice should be taken from a specialist in genetics. http://www.kidney.org.uk/Medical-Info/alports/tests.html

Alport's Syndrome Should members of the family have tests to look for Alport's Syndrome? This description of the inheritance of Alport's syndrome applies to the 9 out of 10 families who have the commoner genetic problem. Some families are more complicated, and advice should be taken from a specialist in genetics. The need for testing family members will be discussed from the point of view of a man with Alport's syndrome, and then from the point of view of a woman with Alport's syndrome. Who to test if a man has Alport's syndrome His parents Alport's syndrome should have been inherited from his mother, though occasionally the genetic abnormality has occurred for the first time in the affected person. His mother should have urine tests for blood. If there is blood in the urine, kidney function and blood pressure should be tested, and a kidney specialist consulted. If the mother is completely clear, the father should be checked, in case there is a rarer variant of Alport's syndrome. His brothers There is a 50:50 chance that a brother will have Alport's syndrome. Urine should be tested for blood. If he has blood in the urine, kidney function and blood pressure should be measured, and a kidney specialist consulted. A brother might have Alport's syndrome, and could pass this onto his daughters. If there is no blood in the urine on several tests, he should not have the Alport's syndrome gene, and so cannot pass the condition onto his children.

31. GeneReviews: Diseases And Overviews alport syndrome. Alstrom syndrome. Alzheimer Disease Overview. Alzheimer BiotinidaseDeficiency. Branchiootorenal syndrome. Breast Cancer genetics Overview. http://www.geneclinics.org/profiles/all.html

University of Washington, Seattle About Search Options GeneReviews Laboratory Directory GeneReviews Index of Review Titles The following is a list of titles in the GeneReviews database. If your search term is not listed below, try searching for your term. A B C D ... GeneTests Children's Health System and University of Washington, Seattle Funding Support National Institutes of Health Health Resources and Services Administration US Department of Energy Technical Support University of Washington Seattle, Washington Administrative Support University of Washington School of Medicine Children's Hospital Regional Medical Center Seattle, Washington

32. Disorders & Syndromes Information on genetics. HHH syndromic Contains information on alport syndrome,BranchioOto-Renal syndrome, Jervell and Lange-Nielsen, Mitochondrial syndromes 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

33. Alport Syndrome : A Serious Medical Condition. Resources To Obtain And Further U Molecular Pathology and genetics of alport syndrome (Contributions to Nephrology,Vol 117) K. Tryggvason(Editor) / Hardcover / Published 1996 Our Price http://databank.oxydex.com/compendium_bibliographium/advanced_medical_specialtie

Alport syndrome : A serious medical condition. Resources to obtain and further understanding of the topic. A starting point for researchers, physicians, medical school students, health and policy professionals, and other biotechnology and science professionals. (Not recommended to the lay public). Highly Recommended Resources Hand Picked to save you valuable searching time. welcome (C) 2000 Omegapoint Network Enterprises "The most incomprehensible thing about the world is that it is comprehensible." - Albert Einstein More Einstein Quotes bookmark this page for easy return ... you just might think of something later. Informatorium recommendations listed below: Your Book Search Results for: the keywords include "Alport syndrome" 2 items are shown below. The Molecular Genetics of X-Linked Alport Syndrome (Acta Biomedica Lovaniensia , No 109) Caiying Guo / Paperback / Published 1995 Our Price: $33.50 (Special Order) Molecular Pathology and Genetics of Alport Syndrome (Contributions to Nephrology, Vol 117) K. Tryggvason(Editor) / Hardcover / Published 1996 Our Price: $184.50

34. BioStratum Incorporated - News About BioStratum alport syndrome is an inherited kidney disease that is highly progressive, oftenleading Genzyme genetics, a business unit of Genzyme Corporation, is a leading http://www.biostratum.com/092502.html

For Immediate Release BioStratum Announces Agreements with Genzyme for Alport Syndrome Technology and Research Agreements may lead to therapy for serious unmet medical need Research Triangle Park, N.C. - September 25, 2002 - BioStratum Incorporated, a worldwide leader in drug development based on basal lamina research, has signed an agreement granting Genzyme Corporation an option to obtain a worldwide license under BioStratum's patent rights pertaining to the diagnosis and treatment of Alport syndrome. Terms of the option agreement were not disclosed. Under a separate agreement, Genzyme will fund ongoing research under the direction of Dr. Karl Tryggvason, a founder of BioStratum and Professor of Matrix Biology at the Karolinska Institute in Stockholm, Sweden. Dr. Tryggvason is studying a potential treatment of Alport syndrome using a gene perfusion technology developed in his laboratory. Dr. Tryggvason is the discoverer of the genetic basis of the basal lamina defects in Alport syndrome. "We are delighted to be collaborating with Genzyme in the development of a gene therapy for this progressive and devastating kidney disease," stated Dr. Claus Kühl, Vice Chairman and Chief Executive Officer of BioStratum. "Patients suffering with Alport syndrome have no proven therapeutic options. By combining Genzyme's expertise in gene therapy with BioStratum's basal lamina research, we believe a therapy for Alport syndrome can eventually be developed."

35. Geneticagroup Medical genetics Specialty degree, University of Florence, Italy, 1998. concentrated,since several years, on molecular basis of alport syndrome, a hereditary http://www.unisi.it/ricerca/dip/bio_mol/LABORATORI/RENIERI/reniergroup.htm

Department of Molecular Biology Medical Genetics Laboratory Coordinator: Prof. Alessandra Renieri La Struttura Coworkers Dr. Francesca Ariani Dr. Mirella Bruttini Dr. Ilaria Longo Dr. Francesca Mari Dr. Ilaria Meloni Dr. Chiara Pescucci Alessandra Renieri, M.D., Ph.D. Associate Professor in Medical Genetics M.D. University of Siena, Italy, 1989 Ph.D. (Medical Genetics). University of Siena, Italy, 1993 Medical Genetics Specialty degree, University of Florence, Italy, 1998 Click here for a detailed CV Research activity My research interests focus on the causes of nephropathy and mental retardation. For the former, my laboratory is concentrated, since several years, on molecular basis of Alport syndrome, a hereditary nephropathy which may be transmitted both as X-linked as well as an autosomal recessive or autosomal dominant trait. We have performed mutation analysis in both COL4A5 gene on the X chromosome and COL4A3/COL4A4 genes on chromosome 2 in several patients. Our results suggest that the autosomal form of Alport syndrome may be a model between dominant and recessive inheritance, leading to important implications for clinical practice and genetic counseling. We have identified several novel mutations in MECP2 gene in patients with Rett syndrome, a neurodegenerative disorders affecting young girls. We have collaborated with Dr. Zappella (Neuropsychiatry, Siena) in an attempt to determine if a genotype/ phenotype correlation exists. We have found that the a benign variant of Rett phenotype, called Presereved Speech Variant, most frequently results from either missense mutations or mutations giving rise to a late truncated form of the MECP2 gene. We will now attempt to find modifier genes which may change prognosis of these patients. Also, we have recently identified a truncating mutation in MECP2, which causes XLMR in males. Thus, mutations in this gene give rise to XLMR different from Rett syndrome.

36. Ranieri Medica 2000today-Siena-University-Assistant Professor in Medical genetics Selectionof 10 X-linked alport syndrome an SSCP-based mutation survey over all 51 http://www.unisi.it/ricerca/dottorationweb/mecc-neurod-neurop-neuror-malatt-neur

Prof. A.Renieri Education/Training: 1983-Empoli-Liceo Classico-Maturità classica-final marks: 60/60. 1989-Siena-University-M.D.-final marks1 10/110 cum laude. 1990 - Sestri Levante - European School of Medical Genetics - Certification 1993 - Houston Baylor College of Medicine lab training in Molecular Genetics 1994-Siena-University-Ph.D.in Human Genetics 1998-Firenze-University-Specialist in Medical Genetics-final marks:70/70. Employment and Experience: 1993 - Houston - Molecular Genetics lab. of Prof. Ballabio, Baylor College of Medicine - lab. experience 1993-98 - Siena - Azienda ospedaliera - U.O. Genetica Medica di Prof. Ballabio - Assistente Medico 1998-00-Siena-University-Ricercatore di Genetica Medica 2000-today-Siena-University-Assistant Professor in Medical Genetics Selection of 10 publications (from a total of 48): Bassi M-T, Schaiffino V, Renieri A, De Nigris F, Galli L, Bruttini M, Gebbia M, Bergen AAB, Lewis RA, Ballabio A Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome.NatGenet10:13-19,1995. Schiaffino,MV Bassi,MT. Galli,L. Renieri,A. Bruttini,M. De Nigris,F. Bergen AA, Charles SJ, Yates JR, Meindl A. Analysis of the OA1 gene reveals mutations in only one thid of patients with X-linked ocular albinism. Hum Mol Genet. 4: 2319-2325, 1995.

37. Molecular Genetics Molecular genetics of Escherichia Coli (reference). The Molecular genetics ofXLinked alport syndrome (Acta Biomedica Lovaniensia , No 109) (reference). http://www.websters-online-dictionary.org/definition/english/mo/molecular_geneti

Philip M. Parker, INSEAD. Molecular Genetics Definition: Molecular Genetics Molecular Genetics Noun . The branch of genetics concerned with the structure and activity of genetic material at the molecular level. Source: WordNet 1.7.1 Crosswords: Molecular Genetics Specialty definitions using "molecular genetics" Cytogenetics Molecular Probes references Top Specialty Definition: Molecular genetics (From Wikipedia , the free Encyclopedia) Molecular genetics is the field of biology which studies the structure and function of genes at a molecular level. Molecular genetics employs the methods of genetics and molecular biology. Possible topics for this entry: The study of macromolecules important in biological inheritance forward and reverse genetics screens RNA interference gene knockout transgenics and overexpression mapping, cloning, and sequencing gene expression measuring spatial and temporal regulation cDNAs imprinting bacterial and phage molecular genetics eukaryotic molecular genetics Source: adapted by the editor from Wikipedia , the free encyclopedia under a copyleft GNU Free Documentation License (GFDL) from the article " Molecular genetics Top Commercial Usage: Molecular Genetics Domain Title Books Molecular Genetics in Diseases of Brain, Nerve, and Muscle (

38. CDC Office Of Genetics And Disease Prevention Weekly Update genetics in the Scientific Literature The image denotes selected articles relatedto between endstage renal failure and mutation type in alport syndrome. http://www.cdc.gov/genomics/update/yr2000/nov02.htm

Your browser does not support script November 2, 2000 Volume 5, No. 18 This weekly update provides information on the impact of human genetic research on disease prevention and public health. Spotlight Announcements Genetics in the News Scientific Literature ... Let’s Go Surfing Many of the news links published in our Weekly Update are temporary, and we cannot guarantee access to stories longer than one or two weeks after the Update is published. We suggest you contact the news source directly for reprints. Spotlight Update on CDC’s Prevention Research Projects Using Genetic Information to Prevent Disease and Improve Health. The two top-ranked proposals selected for funding in May 1999 were: Gene-Environment Interactions in Cardiovascular Disease Educating Families About Colon Caner Genetic Risk. A third project was funded with support from the Division of Laboratory Sciences, NCEH, CDC.

39. Membrane Biology Program of the lab is the molecular genetics of type IV collagen. Mutations in COL4A5 thatencodes the alpha5 chain of type IV collagen cause alport syndrome (AS), a http://membranebiology.bwh.harvard.edu/jingzhou.html

Investigators Jing Zhou M.D., Ph.D. Jing Zhou M.D., Ph.D. Title: Associate Professor of Medicine Contact Information: Harvard Institutes of Medicine, Room 520, 77 Avenue Louis Pasteur, Boston, MA 02115 Telephone: Fax: Email: zhou@rics.bwh.harvard.edu Description of Current Research: Recently Published Articles: Segal Y, Peissel B, Renieri A, de Marchi M, Ballabio A, Pei Y, and Zhou J : Line-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis, Am J Hum Genet 1999 Jan;64(1):62-9. Lu WN, Fan XH, Basora N, Babakhanlou H, Law T, Rifai N, Harris PC, Perez-Atayde AR, Rennke HG and Zhou J . Late onset of renal and hepatic cysts in mice heterozygous for a targeted Pkd1 mutation. Nature Genetics 1999, 21(2):160-161. Chen, XZ, Vassilev, PM, Basora, N, Peng, JP, Nomura, N, Segal, Y, Brown, EB, Reeders, ST, Hediger, MA, and Zhou, J

40. Aarogya.com "The Wellness Site" - Conditions & Concerns - Specialties - Nephrolo effective. It is generally preferable to see a professional specializedin genetics for this purpose. What is alport s syndrome? It http://www.aarogya.com/Conditions/Specialties/nephrology/faqpolysystic.asp

Search www Search Aarogya Ask The Doc Catalogue Drug Search Sitemap ... Medicine Conditions Family Health Informatics Updates ... Groups Nephrology Introduction Symptoms   indicating   Kidney Problems Various ailments   of the Kidneys ... Search a Specialist Select Cancer Cardiology Dermatology Dentistry Endocrinology E.N.T. Gastroenterology General Surgery Hematology Neurology Ophthalmology Occupational Therapy Orthopedics Pediatrics Psychology Plastic Surgery Pain Management Physiotherapy Radiology Urology FAQs Polycystic Kidney Diseases and Alport's Syndrome What is polycystic kidney disease? Polycystic kidneys are usually characterized by numerous cysts which contain urine like fluid and is usually seen in both kidneys. What is the cause of polycystic kidney disease? It is genetically determined disease. It is caused by abnormal gene on the chromosomes 16 which is called as autosomal dominant disease. The other mode of transmission is autosomal recessive and it is seen because of an abnormalities on chromosome No 6. Can cysts be seen on other organs?

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