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Lowe Syndrome:     more detail

Lowe oculocerebrorenal syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Holly, MS Ishmael, 2005 Living With Lowe Syndrome: A Guide for Families, Friends, and Professionals Living With Lowe Syndrome: A Guide for Families, Friend, and Professionals Blood Rheology and Hyperviscosity Syndromes (Bailliere's Clinical Haematology) by LOWE, 1987-12-31 The Fragile X Child by Betty B. Schopmeyer, 1992-10 Pinched nerve: An entry from Thomson Gale's <i>Gale Encyclopedia of Alternative Medicine</i> by Whitney Lowe, 2001 Gale Encyclopedia of Alternative Medicine: Pinched nerve by Whitney Lowe, 2001-01-01

lists with details

21. Health Library - Lowe Syndrome
    lowe syndrome. Self Help Clearinghouse. lowe syndrome Association. Internationalnetwork. Founded 1983.Fosters communication  
    http://www.laurushealth.com/library/healthguide/selfhelp/topic.asp?hwid=shc29low

22. Lowe Syndrome - DNA Analysis
    lowe syndrome, DNA Analysis. lowe syndrome DNA ANALYSIS See also Phosphatidylinositol4,5-Bisphoshate Phosphatase - Biochemical Analysis.  
    http://www.bcmgeneticlabs.org/tests/dna/lowe.html
    
    Extractions: Patient genomic DNA will undergo mutation analysis of exons 10-18 and 19-23 of the OCRL1 gene, a region containing ~93% of identified mutations. Male patients will be analyzed by PCR-based automated fluorescent sequence analysis in both the forward and reverse orientations. If a mutation is identified in the male proband, additional relatives can be sequenced for the familial mutation. DNA sequencing has a detection rate of ~99% and remains the DNA test of choice. In the absence of a male proband, carrier testing on high-risk females can be performed by denaturing high performance liquid chromatography (DHPLC) analysis, that has a lower estimated detection rate (~95%).

23. Lowe Syndrome: Clinical Challenges And Solutions
    National Human Genome Research Institute (NHGRI) and the Office ofRare Diseases lowe syndrome Clinical Challenges and Solutions.  
    http://rarediseases.info.nih.gov/news-reports/workshops/lowesyndrome2002.htm

24. Health Library - Lowe Syndrome
    Saint Luke's Health System eLibrary. lowe syndrome. Self Help Clearinghouse.lowe syndrome Association. International network.  
    http://hvelink.saint-lukes.org/library/healthguide/SelfHelp/topic.asp?hwid=shc29

25. Health Library
    Love and AddictionWomen's Issues. Low Income / Housing. lowe syndrome. LoweSyndrome Association-lowe syndrome. Lung Disease Helpline. Lupus. Lyme Disease.  
    http://hvelink.saint-lukes.org/library/healthguide/SelfHelp/_SearchResults.asp?l

26. TAU Research Authority - Lowe Syndrome Association
    lowe syndrome Association (LSA), USA (1271) Medical Research - 2003 Requestfor Proposals. Medicine, Life Sciences, Exact Sciences, Engineering.  
    http://www.tau.ac.il/Research-Authority/announce/lowe.html

27. Lowe Syndrome Association
    Return to Search Page lowe syndrome Association. Email info@lowesyndrome.org.Conditions lowe syndrome. Voicemail yes Year Established 1983.  
    http://www.geneticalliance.org/Resources/displayorganization.html?orgname=Lowe S

28. Lowe Syndrome Association, Inc.
    Return to Search Page lowe syndrome Association, Inc. 222 Lincoln Street West Lafayette,IN 47906 Conditions lowe syndrome. Hours Answered MS, 99; Sun, 1-9  
    http://www.geneticalliance.org/diseaseinfo/displayorganization.html?orgname=Lowe

29. EMedicine - Oculocerebrorenal Dystrophy (Lowe Syndrome) : Article By Melissa Was
    Oculocerebrorenal Dystrophy (lowe syndrome) In 1952, Lowe and colleaguesdescribed an infant with congenital cataracts and mental retardation.  
    http://www.emedicine.com/PED/topic1329.htm
    
    Extractions: (advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Last Updated: February 22, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: Lowe's syndrome, oculocerebrorenal syndrome of Lowe, OCRL, renal Fanconi syndrome, congenital cataracts, neonatal or infantile hypotonia, mental retardation, mental impairment, renal tubular dysfunction AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Melissa Wasserstein, MD , Assistant Professor, Departments of Human Genetics and Pediatrics, Mount Sinai School of Medicine Melissa Wasserstein, MD, is a member of the following medical societies: American Society of Human Genetics Editor(s): Ian Krantz, MD , Assistant Professor, Department of Pediatrics, University of Pennsylvania and Children's Hospital of Philadelphia; Robert Konop, PharmD

30. Lowe Syndrome Mutation Database
    Back to whats new page. lowe syndrome mutation database, The lowe syndromeMutation Database is produced by Genetic Disease Research  
    http://bioresearch.ac.uk/whatsnew/detail/3025683.html
    
    Extractions: Back to whats new page. Lowe syndrome mutation database The Lowe Syndrome Mutation Database is produced by Genetic Disease Research Branch within the US National Human Genome Research Institute (NHGRI). "Lowe oculocerebrorenal syndrome is an X-linked disorder caused by mutations in the OCRL1 gene, which encodes a 105- kDa Golgi protein with phosphatidylinositol (4,5) bisphosphate 5- phosphatase activity." Data and information provided include: Reported OCRL1 mutations causing Lowe Syndrome; Numbering of exons, nucleic acid sequence, and protein sequence used in this database; List of investigators; and References. Information on new mutations may be submitted online. Database [Publication Type] Phosphoric Monoester Hydrolases Molecular Sequence Data Oculocerebrorenal Syndrome

31. Oculocerebrorenal Syndrome
    lowe syndrome mutation database, The lowe syndrome Mutation Databaseis produced by Genetic Disease Research Branch within the US  
    http://bioresearch.ac.uk/browse/mesh/detail/C0028860L0028860.html
    
    Extractions: Lowe syndrome mutation database The Lowe Syndrome Mutation Database is produced by Genetic Disease Research Branch within the US National Human Genome Research Institute (NHGRI). "Lowe oculocerebrorenal syndrome is an X-linked disorder caused by mutations in the OCRL1 gene, which encodes a 105- kDa Golgi protein with phosphatidylinositol (4,5) bisphosphate 5- phosphatase activity." Data and information provided include: Reported OCRL1 mutations causing Lowe Syndrome; Numbering of exons, nucleic acid sequence, and protein sequence used in this database; List of investigators; and References. Information on new mutations may be submitted online. Database [Publication Type] Databases, Genetic Molecular Sequence Data Oculocerebrorenal Syndrome ... Phosphoric Monoester Hydrolases

32. Health Library: All Topics: L: Lowe's Syndrome - Healthfinder®
    topics, lowe syndrome Basic consumer information about Lowe's Syndrome.This medical problems. details lowe syndrome Association, Inc.  
    http://www.healthfinder.gov/Scripts/SearchContext.asp?topic=505

33. Healthfinder® — Questions And Answers About Lowe Syndrome
    Answers to commonly asked questions about lowe syndrome, a rare genetic conditionthat causes physical and mental handicaps and medical problems.  
    http://www.healthfinder.gov/Scripts/ShowDocDetail.asp?doc=6050&lang=1

34. ORPHANET® : Lowe Syndrome
    ORPHANET. ORPHANET database access. lowe syndrome. Direct accessto details Alias Lowe oculocerebrorenal syndrome. Home Page.  
    http://www.orpha.net/static/GB/lowe.html

35. Health Library - Lowe Syndrome
    Topics • Past Topics. lowe syndrome. Self Help Clearinghouse. lowe syndromeAssociation. International network. Founded 1983.Fosters  
    http://uhcs.universityhealth.org/library/healthguide/selfhelp/topic.asp?hwid=shc

36. GeneReviews: Lowe Syndrome
    Your browser does not support HTML frames so you must view lowe syndromein a slightly less readable form. Please follow this link to do so.  
    http://www.geneclinics.org/profiles/lowe

37. Program Details For Information Resource - Lowe Syndrome Association
    Information Resource lowe syndrome Association 222 Lincoln Street WestLafayette, IN 47906 Telephone Numbers and Contact Information  
    http://www.unitedwaydenver.org/IRIS/qu0g801a.htm

38. Lowe Syndrome : Meddie Health Search
    ITEMS LINKS 600 Mile Walk for lowe syndrome Information about the walk as wellas the disease. Details about the different ways one can support the cause.  
    http://www.meddie.com/search/Health/Conditions_and_Diseases/Genetic_Disorders/Lo

39. Lake County Public Library : Program Information Sheet For LOWE SYNDROME ASSOCIA
    Provides information, fosters communication, and supports research.Program Information Sheet for lowe syndrome ASSOCIATION INC  
    http://www.lakeco.lib.in.us/iris/lcpl1117 .html

40. Lake County Public Library Service Program Records For The
    Return to LCPL Home Page, Lake County Public Library Community Resources Directory.Programs attached to keyword Lowe's Syndrome lowe syndrome ASSOCIATION INC .  
    http://www.lakeco.lib.in.us/iris/_0ur0jf7i0.html

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