41. MediFocus MedCenter Preview For Alport's Syndrome Ophthalmic genetics. 1997; Can alport syndrome be treated by gene therapy?.Kidney International. 1997; alport s syndrome. Journal of Medical genetics. http://www.virtualquincy.com/quincy/health/MedFocus/NK001.HTM

MediFocus MedCenter Alport's Syndrome Introduction Nephritis is a general term for inflammation of the kidneys. There are several hereditary forms of nephritis. Alport's syndrome (AS) is one of these but is unique because of the additional symptom of hearing loss in the presence of kidney failure. The disorder causes chronic glomerulonephritis with destruction of the glomeruli. The eventual result is end stage renal disease (ESRD) requiring dialysis (or transplantation) develops between adolescence and age 40. AS affects the basement membranes which are the supporting layers of epithelial and endothelial tissues that make up much of the body's surfaces. The cause is a mutation in a gene for collagen. The disorder is uncommon, affecting about 2 out of 10,000 people. Nephritis is a general term for inflammation of the kidneys. There are several hereditary forms of nephritis. Alport's syndrome (AS) is one of these but is unique because of the additional symptom of hearing loss in the presence of kidney failure. The disorder causes chronic glomerulonephritis with destruction of the glomeruli. The eventual result is end stage renal disease (ESRD) requiring dialysis (or transplantation) develops between adolescence and age 40. The cause of AS is a mutation in a gene for collagen. The disorder is uncommon, affecting about 2 out of 10,000 people. Treatment requires medication, and often, kidney transplant.

42. Mountain States Genetics Network Homepage Genetic Alliance Member. = NORD Member. = Medical Advisory alport syndrome.alport syndrome Homepage Alzheimer s Association. The Amputee Online http://www.mostgene.org/support/a-b.htm

Home About the Network Our Online Publications Regional Directory of Genetic Services ... Online Genetic Support Groups Directory Topics Genetic Services Genetic Testing Education Newborn Screening ... Other Links Directory of Online Genetic Support Groups A-B The inclusion of any resource or link in MoStGeNe does not imply endorsement. They are provided for educational purposes only. Consult with your health care provider regarding how any educational information found on the Internet may apply to your own situation. = Genetic Alliance Member = NORD Member = Medical Advisory - A - Achromatopsia Network Acoustic Neuroma Acoustic Neuroma Association Acoustic Neuroma Association - TriWest Region Colorado, Kansas, Wyoming Adenosine Deaminase Deficiency @ The Purine Research Society Adenylosuccinate Lyase Deficiency @ The Purine Research Society National Adrenal Diseases Foundation Aicardi syndrome Foundation Albinism NOAH Homepage Alkaptonuria and Ochronosis Notebook Alopecia Areata Foundation Alpers syndrome at UMDF Alpha -Antitrypsin Deficiency Alpha -Antitrypsin Deficiency Association Alpha to Alpha - chat, message boards, e-mail lists, etc . .

43. X-linked Alport Syndrome: Natural History In 195 Families AndGenotype- Phenotype In Molecular Pathology and genetics of alport syndrome, edited by Tryggvason K,Basel, Karger,1996 , pp 142153; Wing AJ, Brunner FP Twenty-three years of http://www.jasn.org/cgi/content/full/11/4/649

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Abstract Full Text (PDF) Alert me when this article is cited ... Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by JAIS, J. P. Articles by GUBLER, M. C. J Am Soc Nephrol 11:649-657, 2000 American Society of Nephrology X-linked Alport Syndrome Natural History in 195 Families andGenotype- Phenotype Correlations in Males JEAN PHILIPPE JAIS BERTRAND KNEBELMANN IANNIS GIATRAS MARIO DE MARCHI GIANFRANCO RIZZONI ALESSANDRA RENIERI MANFRED WEBER OLIVER GROSS KAI-OLAF NETZER FRANCES FLINTER YVES PIRSON CHRISTINE VERELLEN ULF PERSSON KARL TRYGGVASON PAULA MARTIN JENS MICHAEL HERTZ MAREK SANAK SARKA KREJCOVA MARIA FERNANDA CARVALHO JUAN SAUS CORINNE ANTIGNAC HUBERT SMEETS and MARIE CLAIRE GUBLER The Italian Multicenter Study on Alport Syndrome, Italy Guy's Hospital, University of London, United Kingdom

44. Mouse Model Of X-Linked Alport Syndrome -- Rheault Et Al. 15 (6): 1466 -- Journa Xlinked alport syndrome (XLAS) is a progressive disorder of basement We thankthe members of the Mouse genetics Laboratory at the University of http://www.jasn.org/cgi/content/full/15/6/1466

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Abstract Full Text (PDF) Alert me when this article is cited ... Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Rheault, M. N. Articles by Segal, Y. J Am Soc Nephrol 15:1466-1474, 2004 American Society of Nephrology BASIC SCIENCE Mouse Model of X-Linked Alport Syndrome Michelle N. Rheault Stefan M. Kren Beth K. Thielen Hector A. Mesa John T. Crosson William Thomas Yoshikazu Sado Clifford E. Kashtan and Yoav Segal *Division of Pediatric Nephrology, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota; Division of Renal Diseases and Hypertension, Department of Medicine, University of Minnesota, Minneapolis, Minnesota; Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, Minnesota; Division of Biostatistics, School of Public Health, University of Minnesota, Minneapolis, Minnesota; and

45. ALPORT SYNDROME Molecular Pathology and genetics of alport syndrome (Contributions to Nephrology, The Molecular genetics of XLinked alport syndrome (Acta Biomedica http://www.websters-online-dictionary.org/definition/english/Al/Alport_syndrome.

Philip M. Parker, INSEAD. ALPORT SYNDROME Specialty Definition: ALPORT SYNDROME Domain Definition Health An inherited condition that results in kidney disease. It generally develops during early childhood and is more serious in boys than in girls. The condition can lead to end-stage renal disease, as well as hearing and vision problems. The common symptoms of this condition are chronic blood and protein in the urine. ( references Medicine Hereditary progressive nephropathy with albuminuria and hematuria and progressive bilateral nerve deafness, mostly affecting males. Source: European Union. references Source: compiled by the editor from various references ; see credits. Top Commercial Usage: ALPORT SYNDROME Domain Title Books Molecular Pathology and Genetics of Alport Syndrome (Contributions to Nephrology, Vol 117) ( reference The Molecular Genetics of X-Linked Alport Syndrome (Acta Biomedica Lovaniensia , No 109) ( reference (more book examples) Source: compiled by the editor from various references ; see credits. Top Non-Fiction Usage: ALPORT SYNDROME Subject Topic Quote Health The primary indicator of Alport syndrome is a family history of chronic glomerular disease, although it may also involve hearing or vision impairment. (

46. Ranieri 1990 Sestri Levante - European School of Medical genetics - Certification X-linked alport syndrome an SSCP-based mutation survey over all 51 exons of 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.

47. Ophthalmic Plastic And Reconstructive Surgery - UserLogin We briefly review the genetics of such anomalies and discuss the The familyhistory of alport syndrome is extensive and includes the patient s mother, http://www.op-rs.com/pt/re/oprs/fulltext.00002341-200403000-00016.htm

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48. OUP Oxford Desk Reference - Clinical Genetics Firth Readership Consultants and trainees in clinical genetics, genetic counsellorsand paediatricians alport syndrome; Androgen insensitivity syndrome (AIS) http://www.oup.co.uk/isbn/0-19-262896-8

NEVER MISS AN OXFORD SALE (SIGN UP HERE) VIEW BASKET Quick Links About OUP Career Opportunities Contacts Need help? News oup.com Search the Catalogue Site Index American National Biography Booksellers' Information Service Children's Fiction and Poetry Children's Reference Dictionaries Dictionary of National Biography Digital Reference English Language Teaching Higher Education Textbooks Humanities International Education Unit Journals Law Medicine Music Online Products Oxford English Dictionary Reference Rights and Permissions Science School Books Social Sciences Very Short Introductions World's Classics Advanced Search UK and Europe Book Catalogue Help with online ordering How to order Postage Returns policy ... Table of contents Join the OED-BBC Wordhunt Visit www.oed.com for more details An essential all-in-one guide to clinical genetics Oxford Desk Reference - Clinical Genetics Helen V. Firth and Jane A. Hurst With Consulting Editor Judith G. Hall Publication date: 14 July 2005 752 pages, numerous line figures, 240mm x 168mm Visit the companion web site Ordering Individual customers order by phone, post, or fax

49. Rare Diseases Terms - Office Of Rare Diseases in Man (OMIM) database contains genetics resources that discuss alport syndrome . Additional information about alport syndrome is available from http://ord.aspensys.com/asp/diseases/diseaseinfo.asp?ID=5785

50. Molecular Genetics Publications deep intronic mutations in the COL4A5 gene cause X linked alport syndrome . Giannelli F (1997) The genetics of blood coagulation and haemostasis. http://www.kcl.ac.uk/depsta/memoge/publications/moleculargeneticspublications.ht

Molecular Genetics Research Group Giannelli F (2001) Mitochondria and the quality of human gametes. (Letter) Am J Hum Genet, 68, 1535-1537. Giannelli F (2001) Gene mutations and pedigrees. Lancet, 358, s33. Giannelli F (2001 Christmas Disease. In: Encyclopedia of Genetics. S Brenner (ed). San Diego; London: Academic Press. 338. Giannelli F (2001) Hemophilia. In: Encyclopedia of genetics. S Brenner (ed). San Diego; London: Academic Press. 917-920. Green PM (2001) This bad blood. Lancet, 358, s34. mutation and loss in renal-cell carcinoma development. Genes Chromosom Cancer, 26 (1) 20-28. Giannelli F (1997) The genetics of blood coagulation and haemostasis. In: Haemophilia and other inherited bleeding disorders. CR Rizza and Lowe GDO (ed). London: WB Saunders. TOP Text Only Site Accessibility Contact ... Webmaster

51. Clinical Genetics Centre Publications Flinter F (1997) alport s syndrome. J Med Genet, 34 (4) 326330. Flinter FA (1997)What I tell my patients about alport s syndrome. Br J Renal Med, 2, http://www.kcl.ac.uk/depsta/memoge/publications/clinicalgeneticscentrepublicatio

Clinical Genetics Centre Johnson V, Lipton L, Cummings C, Eftekhar Sadat A, Izatt L, Hodgson S, Talbot I, Thomas H, Silver A, Tomlinson I (2005) Analysis of somatic molecular changes, clincopathological features, family history and germline mutations in colorectal cancer families: evidence for efficient diagnosis of HNPCC and for distinct groups of non-HNPCC families. J Med Genet, 23 Mar 2005 Epub ahead of Print Immunoglobulin heavy chain genes somatic hypermutations and chromosome 11q22-23 deletion in classic mantle cell lymphoma: a study of the Swiss Group for Clinical Cancer Research. Br J Haematol, 124 (3) 289-298. polyposis, with evidence for the importance of the N-acetyl transferases. Gut, 53 (2) 271-276. Research (SAKK) (2004) Prolonged treatment with rituximab in patients with follicular lymphoma significantly increases event-free survival and response duration compared with the standard weekly X4 schedule. Blood, 103 (12) 4416-4423. Moreira MC, Klur S, Watanabe M, Nemeth AH, Le Ber I, Moniz JC, Tranchant C, Aubourg P, Tazir M, Schols L, Pandolfo M, Schulz JB, Pouget J, Calvas P, Shizula-Ikeda M, Shoji M, Tanaka M, Izatt L, Shaw CE, M'Zahem A, Dunne E, Bomont P, Behassine T, Bouslam N

52. Oxford Eprints - Characterization Of A Major Modifier Locus For Polycystic Kidne disease (Modpkdr1) in the HanSPRD(cy/+) rat in a region conserved with amouse modifier locus for alport syndrome. Human Molecular genetics 11(18)pp. http://eprints.ouls.ox.ac.uk/archive/00000285/

Oxford Eprints Oxford University Library Services Home About Deposit Browse ... Help Characterization of a major modifier locus for polycystic kidney disease (Modpkdr1) in the Han:SPRD(cy/+) rat in a region conserved with a mouse modifier locus for Alport syndrome and Megel, Natalia and Brown, Joanna H. and and Crombez, Laurence and Tychinskaya, Yulia and Broxholme, John and Kratz, Susanne and Bergmann, Volker and Hoffman, Sigrid and Gauguier, Dominique and Gretz, Norbert Characterization of a major modifier locus for polycystic kidney disease (Modpkdr1) in the Han:SPRD(cy/+) rat in a region conserved with a mouse modifier locus for Alport syndrome Human Molecular Genetics Additional Location(s): http://eprints.ouls.ox.ac.uk:81/hmg/Volume_11/Issue_18/abstracts/ddf211.sgm Abstract EPrint Type: Journal (Paginated) Subjects: A.University of Oxford Departmental Classification MEDICAL SCIENCES DIVISION CLINICAL DEPARTMENTS Human Genetics (Wellcome Trust Centre for Medical Oncology) ... Life Sciences ID Code: Deposited By: Sytsema, Dr Johanneke Deposited On: 07 February 2005 Site Administrator: neil.jefferies@sers.ox.ac.uk

53. Genes At Work - Topics In Genetics alport syndrome is an autosomal dominant or Xlinked dominant condition Neurofibromatosis type 2 is a dominant genetic disorder with vestibular http://www.umdnj.edu/genesatwork/topics/pediatrics/03_pediatrics.htm

The Genetics Of Deafness by Beth A. Pletcher, MD, November 1999 It may be hard to believe, but almost 7% of the population of the United States is deaf or hearing impaired. This amounts to about 20 million people across the country. You might say that this makes sense when one considers the ever increasing population of senior citizens, but you may be surprised to learn that 50% of severe to profound hearing impairment is genetically determined. Other Mendelian disorders that have hearing loss as a frequent component include: In addition to these conditions, there are many more multiple anomaly, biochemical and cytogenetic disorders that have hearing loss as a common finding. For a child with congenital hearing loss a number of simple screening tools can be employed to rule out some of these conditions that have additional medical implications. A reasonable work-up for an infant or child with significant hearing loss without obvious cause would include: Genes at Work Home UMDNJ Home Top of page

54. Entrez PubMed alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis a Department of genetics, Yale University School of Medicine, New Haven, http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9

55. Ustav Biologie A Lekarske Genetiky 2.LF UK A FNM 19941998 Cystic fibrosis molecular genetics research grant from the United form of alport syndrome and familial benign haematuria (IGA 3791-3) http://ublg.lf2.cuni.cz/e_research.html

Research projects of the 2. School of Medicine "Longitudinal, comprehensive, clinical and genetic study of prenatal and postnatal development of patients and their families with the most serious inborn errors and inherited disorders. Projects from the IBMG that are encompassed in the below 2.School of Medicine research projects: Diagnosis of inborn and inherited glomerulal disorders Improvement of reproductive genetics Neurogenetic diagnosis of spinocerebellar ataxias and neurodegenerative disorders Genotype-phenotype correlations in neuromuscular diseases with a genetic component Molecular genetic diagnosis and prevention of thrombembolic conditions. CFTR gene mutation analysis in human infertility, gastrointestinal and lung diseases of yet unknown etiology. Differential diagnosis of familiar nephropathies: clinical and molecular genetic analyses Genotype-phenotype correlations in microdeletion syndromes Molecular genetic aspects of cell signaling in oncogenesis: the influence of tyrosinekinases on cell proliferation See also Detailed description (in Czech) Detailed description of particular research projects of IBMG Centers CF Centrum Neurogenetic Centrum Laboratory of reproductive genetics Oncogenetic laboratory - Biological Unit ... List of grant projects of IBMG A/ FUNDING OF IBMG Funding of the center from budget of the 2nd Medical School of Charles University, Prague per year

56. NEJM -- Alport's Syndrome, Goodpasture's Syndrome, And Type IV Collagen alport s syndrome. genetics. Pathogenesis. Clinical Presentation. Findings onKidney Biopsy. Treatment. Goodpasture s syndrome. genetics. Pathogenesis http://content.nejm.org/cgi/content/extract/348/25/2543

// var NTPT_PGEXTRA = ''; // var NTPT_PGREFTOP = false; // var NTPT_NOINITIALTAG = false; 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 ... PubMed Citation 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

57. NEJM -- Sign In Science 1990;24812241227.Medline; Tryggvason K, Zhou J, Hostikka SL, Shows TB.Molecular genetics of alport syndrome. Kidney Int 1993;4338-44.Medline http://content.nejm.org/cgi/content/full/330/10/714-a

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58. Rural Nurse Organization Clinic Digital Library Hereditary Nephritis (alport s syndrome), Microscopic Access document.genetics Resources See also General genetics Resources. GeneClinics Homepage http://ruralnurseorganization-dl.slis.ua.edu/clinical/nephrology/glomerulonephri

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 The Merck Manual 17th Ed.-1999: Table of contents Chapter 230: Inherited and Congenital Renal Disorders: Table of contents Cystic Nephropathies: Access document Family Practice Handbook 4th Ed.-2001: Table of contents Chapter 8: Nephrology and Urology: Table of contents Proteinuria, Nephrotic Syndrome, and Nephritic Urine: Access document Glomerulonephritis and Nephritis: Access document Medicine, Ob/Gyn, Psychiatry, and Surgery (eMedicine): Table of contents Alport Syndrome: Access document Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes: List of documents Alport Syndrome: Access document Pediatrics Resources See also General Pediatrics Resources Pediatrics (eMedicine): Table of contents Alport Syndrome: Access document Atlases Atlas of Diseases of the Kidney Volume I: Table of contents Chapter 1 - Normal Vascular and Glomerular Anatomy: Access document (PDF) Chapter 3 - Heredofamilial and Congenital Glomerular Disorders: Access document (PDF) High Resolution Images for Volume 2: List of documents Pathology Resources Internet Pathology Lab for Medical Education (FSU Coll of Med): Table of contents Renal Pathology Index: List of documents Glomerulonephritis: List of documents Hereditary Nephritis (Alport's Syndrome), Microscopic:

59. Deletions In The COL4A5 Collagen Gene In X-linked Alport Syndrome. Characterizat Molecular genetics of alport syndrome. Kidney Int 1993 Jan;43(1)38–44. PubMed;Zhou J, Mochizuki T, alport syndrome a genetic study of 31 families. http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=294071

60. Canine X Chromosome-linked Hereditary Nephritis: A Genetic Model For Human X-lin Molecular genetics of alport syndrome. Kidney Int 1993 Jan;43(1)38–44. PubMed;Pihlajaniemi T, Pohjolainen ER, Myers JC. Complete primary structure of http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=43708

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