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

DNA ANALYSIS See also: Phosphatidylinositol-4,5- Bisphoshate Phosphatase - Biochemical Analysis Prenatal biochemical enzymatic testing for Lowe Syndrome in a male fetus (without prior mutation data) is available at the Baylor Biochemical Genetics Laboratory* Recommended Flowchart for Lowe Syndrome Diagnostic Testing Reasons For Referral: Lowe Syndrome DNA testing for individuals with phenotypic features. Unusual phenotypes (such as Lowe syndrome in a female) should be discussed in advance. Carrier testing in females with a definite family history of Lowe Syndrome (in conjunction with a careful ophthalmological examination). Prenatal diagnosis in families with an identified mutation in the gene. Note: Prenatal biochemical enzymatic testing on male fetuses can be performed in cases where a familial mutation has not been identified. Testing Methodology: 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

National Human Genome Research Institute (NHGRI) and the Office of Rare Diseases Lowe Syndrome: Clinical Challenges and Solutions Lowe Syndrome: Clinical Challenges and Solutions Agenda Wednesday, October 2 8:00 a.m. Welcome and Introductions Bob Nussbaum, Kaye McSpadden, Lorraine Thomas 8:30 a.m. Ophthalmological Complications Overview: Richard A. Lewis 9:00 a.m. Open discussion 10:00 a.m. Renal Complications Overview: Eileen Brewer 10:30 a.m. Open discussion 11:15 a.m. Growth and Somatic Development/Stature Overview: Philip Zeitler 11:45 a.m. Open discussion 1:30 p.m. Neurological and Behavioral Complications Overview: Lawrence Charnas 11:15 a.m. Open discussion 4:15 p.m. Development Overview: TBN 11:15 a.m. Open discussion 7:00 p.m. Dinner organized by the LSA and LST Thursday, October 3 8:00 a.m. Rheumatological and Skin Complications Overview: John Digiovanni 8:30 a.m. Open discussion 9:15 a.m. Dental Complications 10:30 a.m. Overview: Mike Harrison 11:00 a.m. Open discussion 11:45 a.m. Summary Bob Nussbaum ORD Home Site Index Help and More Rare Diseases Information ... NIH Home

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

(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 Oculocerebrorenal Dystrophy (Lowe Syndrome) 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

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 Last modified 11/Jan/2002 [Low Graphics]

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

Oculocerebrorenal Syndrome [up] Related topics: other Down Syndrome Fragile X Syndrome Homocystinuria 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 Last modified 28/Mar/2003 [Low Graphics]

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

ORPHANET database access Lowe syndrome Direct access to details Alias : Home Page

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

Your browser does not support HTML frames so you must view Lowe Syndrome in a slightly less readable form. Please follow this link to do so.

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

Information Resource - Lowe Syndrome Association 222 Lincoln Street West Lafayette, IN 47906 Telephone Numbers and Contact Information Main number info@lowesyndrome.org Email Operating Agency: Lowe Syndrome Association Agency Type: Non-Profit Person in charge: Kaye McSpadden Hours of operation: M - F, 8 a.m. - 8 p.m., CST Fees: None. Eligibility requirements: None. Intake Procedure: Call for more information. Area Served: Nationwide Medicaid Accepted Warm Welcome Program Medicare Accepted Family Violence Prevention Initiat. About the program: To promote communication among families affected by Lowe Syndrome, provide information and encourage and support research. Activities include: publications; newsletters; parent directory; conferences; medical research grant.

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

HOME ADD A LINK MODIFY A LINK NEW LINKS ... TOP RATED Search Meddie: the entire directory only this category More search options Home Health Conditions and Diseases ... Genetic Disorders : Lowe Syndrome ITEMS: LINKS: 600 Mile Walk for Lowe Syndrome Information about the walk as well as the disease. Details about the different ways one can support the cause. (Rating: 0.00 Votes: 0) Rate It Lowe Syndrome Association Information about this disease and the international organization that deals with it. (Rating: 0.00 Votes: 0) Rate It National Library of Medicine: LS Lowe syndrome, the synonyms, a summary and list of major features. (Rating: 0.00 Votes: 0) Rate It Pediatric Database An in depth look at lowe syndrome starting with a definition, epidemiology, pathogenesis, clinical features, investigations and management. (Rating: 0.00 Votes: 0) Rate It Readers Digest Health Lowe Syndrome, its alternate names, a general discussion and resources. (Rating: 0.00 Votes: 0) Rate It HOME ADD A LINK MODIFY A LINK ... Design © ISC Enterprises Inc.

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

Lake County Public Library Community Resources Directory Program Information Sheet for: LOWE SYNDROME ASSOCIATION INC Description: Provides information, fosters communication, and supports research. Location: 222 LINCOLN STREET WEST LAFAYETTE, IN 47906-2732 Mailing Address: 222 LINCOLN STREET WEST LAFAYETTE, IN 47906-2732 Telephone Numbers and Contact information Phone #:(765) 743-3634 Phone #: Phone #: Phone #: Phone #: Fax Number: Web Page: http://www.lowesyndrome.org E-mail to: info@lowesyndrome.org Program Details: Operating Agency: LOWE SYNDROME ASSOCIATION INC (Private, Non-Profit) Person In Charge: Contact Person:Kaye McSpadden Hours: Call for information. Eligibility: Fees: $15 annually. Intake Process: No. Service Area: National. Handicap Accessibility: Program/Service Notes: -Provides information, fosters communication and supports research. This information was last updated on 02/04/2003 This information is provided as is with no guarantee as to the accuracy of the information. Information is considered to be accurate as of the date of the last update, printed above. Lake County Public Library may not be held liable for misuse of this information. Lake County Public Library

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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