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Alport Syndrome Genetics: more detail

Molecular Pathology and Genetics of Alport Syndrome (Contributions to Nephrology)
The Molecular Genetics of X-Linked Alport Syndrome (Acta Biomedica Lovaniensia) by Caiying Guo, 1995-11
Familial nephritis: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Maria, PhD Basile, 2005
Hereditary nephropathy with hearing loss: "Alport's syndrome" (Acta paediatrica Scandinavica : Supplement) by Ulla Marianne Iversen, 1974

lists with details

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

Extractions: 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. 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.
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

Extractions: 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 @ 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 . .
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

Extractions: 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 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
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

Extractions: 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 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
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.

Extractions: Philip M. Parker, INSEAD. ALPORT SYNDROME Specialty Definition: ALPORT SYNDROME Domain Definition 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 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 Source: compiled by the editor from various references ; see credits. Top Non-Fiction Usage: ALPORT SYNDROME Subject Topic Quote The primary indicator of Alport syndrome is a family history of chronic glomerular disease, although it may also involve hearing or vision impairment. (
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

Extractions: 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.
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
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

Extractions: 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
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
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

Extractions: 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.
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

Extractions: 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 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
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/

Extractions: Oxford Eprints Oxford University Library Services Home About Deposit Browse ... Help 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 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
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

Extractions: 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
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
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

Extractions: "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
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

Extractions: 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
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

Extractions: 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. Log in via Athens. 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 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.
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

Extractions: Clinical Resources by Topic: Nephrology Alport Syndrome Clinical Resources Pediatrics Atlases Pathology Genetics ... Miscellaneous Resources See also: Family Practice Handbook 4th Ed.-2001: Table of contents Medicine, Ob/Gyn, Psychiatry, and Surgery (eMedicine): Table of contents Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes: List of documents Pediatrics Resources See also General Pediatrics Resources Atlases 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:
Deletions In The COL4A5 Collagen Gene In X-linked Alport Syndrome. Characterizat
Molecular genetics of alport syndrome. Kidney Int 1993 Jan;43(1)3844. PubMed;Zhou J, Mochizuki T, alport syndrome a genetic study of 31 families.
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=294071
Canine X Chromosome-linked Hereditary Nephritis: A Genetic Model For Human X-lin
Molecular genetics of alport syndrome. Kidney Int 1993 Jan;43(1)3844. PubMed;Pihlajaniemi T, Pohjolainen ER, Myers JC. Complete primary structure of
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=43708

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