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Alport Syndrome Genetics: more detail | |||||
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61. Collagen COL4A3 Knockout: A Mouse Model For Autosomal Alport Syndrome -- Cosgrov Department of genetics, Boys Town National Research Hospital, Omaha, A mousemodel for the autosomal form of alport syndrome was produced. http://www.genesdev.org/cgi/content/abstract/10/23/2981 | |
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62. Informagene - Dizionario Translate this page Tryggvason K. Molecular pathology and genetics of alport syndrome. Contributions toNephrology 117, Karger, Basilea, 1996. - Turco AE et al. http://www.telethon.it/informagene/dettaglio_malattia.asp?id=72 |
63. CIN'2003. Suzanne Meleg-Smith. Enfermedad De Alport: Un Diagnóstico DifÃcil Translate this page Toren, A., et al., Genetic linkage of autosomal-dominant alport syndrome withleukocyte Tryggvason, K., et al., Molecular genetics of alport syndrome. http://www.uninet.edu/cin2003/conf/smelegs/smelegs.html | |
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64. Physiology Department Faculty And Their Research Tryggvason K (ed) Molecular Pathology and genetics of alport syndrome, ContribNephrol. Basel, Karger, 117128, 1996. Barker DF, Atkin CL, Gregory MC and http://medstat.med.utah.edu/physio/faculty/barker.html | |
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65. IOVS -- Sign In Page Clinical and molecular genetics of Stickler syndrome. J Med Genet. Autosomaldominant alport syndrome linked to the type IV collage alpha 3 and alpha 4 http://www.iovs.org/cgi/content/full/45/12/4498 | |
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66. EMedicine - Alport Syndrome : Article By Ramesh Saxena, MD, PhD alport syndrome In 1927, Cecil A. alport described 3 generations of a family with Since that time, identification of genetic loci involved in AS has http://www.emedicine.com/med/topic110.htm | |
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67. Project: Molecular Genetic And Functional Research Into The Pathogenesis Of Alpo Abstract, The primary defect of alport syndrome (AS) and some forms of Familial The pathogenesis is studied by means of molecular genetic and functional http://www.onderzoekinformatie.nl/en/oi/nod/onderzoek/OND1282101/toon | |
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68. Alport Syndrome And Mental Retardation: Clinical And Genetic Dissection Of The C alport syndrome and mental retardation clinical and genetic dissection of thecontiguous X linked alport syndrome (ATS, OMIM 301050) is a hereditary http://jmg.bmjjournals.com/cgi/content/full/39/5/359 | |
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69. Mosaicism In Alport Syndrome And Genetic Counselling -- BRUTTINI Et Al. 37 (9): Mosaicism in alport syndrome and genetic counselling In this family themutation is associated with juvenile alport syndrome in males, suggesting that http://jmg.bmjjournals.com/cgi/content/full/37/9/717 | |
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70. Alport's Syndrome - Patient UK Arrange genetic counselling. Incomplete penetrance of alport syndrome in femalesmust always be kept in mind genetic tests may soon be available for http://www.patient.co.uk/showdoc/40001344/ | |
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71. UpToDate Hereditary Nephritis (Alport Syndrome) INTRODUCTION Â Hereditary nephritis (or alport syndrome) is a progressive The genetic defects in these patients involve the COL4A3 and COL4A4 genes, http://patients.uptodate.com/topic.asp?file=glomrdis/7197 |
72. Resources For Genetic Counselors - Alport Syndrome alport syndrome Posted on Monday, February 07 @ 211124 EST by debi GeneticCounseling Outlines alport syndrome Fact Sheet May 2004 http://www.genesoc.com/counseling2/article9.html |
73. GEMdatabase - Selected Title TITLE, alport syndrome. DESCRIPTION, This review focuses on the diagnosis, and genetic counseling of patients and families with alport syndrome. http://www.gemdatabase.org/GEMDatabase/TitleDetailsOne.asp?TitleID=824 |
74. GEMdatabase - Browse Titles alport syndrome This review focuses on the diagnosis, management, and geneticcounseling of patients and families with alport syndrome. http://www.gemdatabase.org/GEMDatabase/BrowseTitles.asp?curpage=2 |
75. MEDArticleMgr alport syndrome is very similar to hereditary nephritis. The disorder isuncommon, and most often affects males since the genetic defect is typically http://www.drgreene.org/body.cfm?id=49&action=Display&articlenum=504 |
76. Pacific Fertility Center - Pre-Implantation Genetic Diagnosis (PGD) In the past, once the diagnosis of a genetic disease was determined, parentscould only be alport syndrome (COL4A5) Alzheimer (very early onsetPSEN1) http://www.infertilitydoctor.com/genetic/pgd.htm | |
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77. JN 2003; Vol.16 N°2: 314-316 Key words alport syndrome, COL4A4, COL4A3, COL4A5, Collagen IV, Benign familial Renieri A. Mosaicism in alport syndrome and genetic counseling. http://www.sin-italy.org/jnonline/vol16n2/314.html | |
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78. Hereditary Kidney Disorders - Evanston Northwestern Healthcare Genetic alterations can occur de novo in up to 10% of cases. alport syndromeis a condition which involves inflammation of the kidneys leading to http://www.enh.org/healthandwellness/clinicalservices/genetics/conditions/index. |
79. THE MERCK MANUAL--SECOND HOME EDITION, Gene Abnormalities In Ch. 2, Genetics Abnormal genetic traits are often caused by new genetic mutations rather than nephritis) (see Tubular and Cystic Kidney Disorders alport s syndrome). http://www.merck.com/mmhe/sec01/ch002/ch002b.html | |
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80. 153650 EPSTEIN SYNDROME (1992) reported studies of 31 families with alport syndrome. J.P.; Tryggvason,K.; Hors-Cayla, M.-C. alport syndrome a genetic study of 31 families. http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:153650] -e |
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