61. Associazione Italiana Sindrome Di Lowe J, Edkins E, Goldblatt J, Murch A. Identification of a novel deletion of the entire OCRL1 gene detected by FISH analysis in a family with lowe syndrome. http://aislo.negrisud.it/referenze.html

REFERENZE MEDICO-SCIENTIFICHE Peverall J, Edkins E, Goldblatt J, Murch A. Identification of a novel deletion of the entire OCRL1 gene detected by FISH analysis in a family with Lowe syndrome. Clin Genet. 2000 Dec;58(6):479-82. Gropman A, Levin S, Yao L, Lin T, Suchy S, Sabnis S, Hadley D, Nussbaum R. Unusual renal features of Lowe syndrome in a mildly affected boy. Am J Med Genet. 2000 Dec 18;95(5):461-6. Monnier N, Satre V, Lerouge E, Berthoin F, Lunardi J. OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counseling. Hum Mutat. 2000;16(2):157-65. Roschinger W, Muntau AC, Rudolph G, Roscher AA, Kammerer S. Carrier assessment in families with lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination. Mol Genet Metab. 2000 Mar;69(3):213-22. Dressman MA, Olivos-Glander IM, Nussbaum RL, Suchy SF. Ocrl1, a PtdIns(4,5)P(2) 5-phosphatase, is localized to the trans-Golgi network of fibroblasts and epithelial cells. J Histochem Cytochem. 2000 Feb;48(2):179-90. Harrison M, Odell EW, Sheehy EC. Dental findings in Lowe syndrome. Pediatr Dent. 1999 Nov-Dec;21(7):425-8. Review.

62. University Of Dundee : External Relations : Press Office 29 April 2004. lowe syndrome. Lorraine Thomas established the lowe syndrome Trust in June 2000 after her son was diagnosed with the incurable syndrome in 1999. http://www.dundee.ac.uk/pressreleases/prapr04/oscar.html

Text only Search All Dundee Courses DUSA External Relations Alumni Relations Press Office Events ... About Dundee 29 April 2004 Lowe syndrome A young boy who suffers from the debilitating Lowe Syndrome appeared live on GMTV this morning with his mum and the scientist who is leading research to advance understanding and treatment of the genetic disease at the University of Dundee. Oscar Thomas (10), his mum Lorraine and Dr John Lucocq from the School of Life Sciences were interviewed by Lorraine Kelly live on LK today to tell viewers about the sydrome and the vital research that is going on in DUndee to find a treatment and ultimately a cure for Lowe syndrome. Lowe Syndrome is a rare genetic disorder that affects only boys and produces cataracts in the eyes, defects in brain development and kidney problems. Life expectancy of the boys is short due to the complications of the disease. The disease was first recognised in 1952 by Dr Charles Lowe, and is caused by a defective gene (Ocrl1). Dr Lucocq has been awarded a grant of £49,869 from the Lowe Syndrome Trust run by Lorraine Thomas to undertake research on the protein, Ocrl1, which is produced by the faculty gene and is thought to reside in the Golgi apparatus. The Golgi apparatus is responsible for the processing, sorting, packaging and distribution of proteins in cells to the right destinations within cells. Dr Lucocq believes that defects in kidney and nerve cell function are linked to problems of protein transport from Golgi to other parts of the cells.

63. University Of Dundee: Contact Magazine 2002 Oscar Thomas, who suffers from the debilitating lowe syndrome, has visited the University to meet Dr John Lucocq in the School of Life Sciences. http://www.dundee.ac.uk/pressoffice/contact/2003/December/oscar.html

Text only Media Guide Media Guide 2004 Journalists guide to expertise Quick Facts In the news... Today's Cuttings 3 February 2004 This Week's Cuttings Ending 6 February 2004 What's on Events Conferences Exhibitions Academic Calendar Court News October Court Report Court Agenda - 15 December 2003 Publications Contact - December Staff magazine Contact production schedule Dundee Reunited 2003 - Alumni magazine Annual Review 2001 Archives Press Releases Parliament Review Subscribe Press Releases Magazines and Cuttings About us Press Office Home Web site maintained by Susan Ferguson Award for research into rare disease Oscar Thomas, who suffers from the debilitating Lowe Syndrome, has visited the University to meet Dr John Lucocq in the School of Life Sciences. Dr Lucocq is leading research to advance understanding and treatment of this rare genetic disease. Lowe Syndrome was first recognised in 1952 by Dr Charles Lowe, and is caused by a defective gene (Ocrl1). It affects only boys and produces cataracts in the eyes, defects in brain development and kidney problems.  Life expectancy is short for boys suffering from the disease, due to its complications. Dr Lucocq has been awarded a grant of £49,869 from the Lowe Syndrome Trust to undertake research on the protein, Ocrl1, which is produced by the faulty gene and is thought to reside in the Golgi apparatus.  The Golgi apparatus is responsible for the processing, sorting, packaging and distribution of proteins in cells to the right destinations within cells.  Dr Lucocq believes that defects in kidney and nerve cell function are linked to problems of protein transport from Golgi to other parts of the cells.

64. Health Library - lowe syndrome. This information is provided as a resource and does not constitute an endorsement for any group. lowe syndrome Association. International network. http://12.42.224.152/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29low

65. PillSupplier.com - Conditions And Diseases/Genetic Disorders/Lowe Syndrome Category lowe syndrome. HOME ABOUT US ORDER STATUS BMI CALCULATOR FAQ CONTACT US. Conditions and Diseases/Genetic Disorders/lowe syndrome. Links http://www.pillsupplier.com/dir/854/

Category: Lowe Syndrome HOME ABOUT US ORDER STATUS BMI CALCULATOR ... CONTACT US Prescription Drugs Diet Pills Adipex Bontril Didrex ... Login Conditions and Diseases/Genetic Disorders/Lowe Syndrome Links: Lowe Syndrome Association [rate it] [review it] Information about this disease and the international organization that deals with it. National Library of Medicine: LS [rate it] [review it] Lowe syndrome, the synonyms, a summary and list of major features. Pediatric Database [rate it] [review it] An in depth look at lowe syndrome starting with a definition, epidemiology, pathogenesis, clinical features, investigations and management. Readers Digest Health [rate it] [review it] Lowe Syndrome, its alternate names, a general discussion and resources. Search Looking for something in particular? the entire directory only this category More search options Pages Updated On: Fri May 28 2004 - 04:40:41 About Us Frequently Asked Questions Contact Us Order Status ... Health Resources

66. Mioti: Diseases + Conditions Diseases + Conditions lowe syndrome. Search Mioti Gene Reviews lowe syndrome. By providing current, authoritative information http://www.mioti.com/cat/condition/condition.asp?Cat=LoweSyndrome

67. News Release: IUPUI CHILDREN WITH RARE GENETIC DISORDER TO TOUR LAB OF IUPUI RESEARCHER; FAMILIES ARRIVE ON CAMPUS TO CELEBRATE 600MILE WALK TO RAISE FUNDS TO FIGHT lowe syndrome. http://www.newscenter.iupui.edu/newsreleases/lowe.htm

INDIANA UNIVERSITY PURDUE UNIVERSITY INDIANAPOLIS Administration Building, Suite 136 355 N. Lansing Street Indianapolis, Indiana 46202-2896 Fax: 317-274-5457 NEWS RELEASE For Immediate Release For More Information Contact: September 20, 2001 Diane Brown, (317) 274-7711 habrown@iupui.edu FAMILIES OF CHILDREN WITH RARE GENETIC DISORDER TO TOUR LAB OF IUPUI RESEARCHER; FAMILIES ARRIVE ON CAMPUS TO CELEBRATE 600-MILE WALK TO RAISE FUNDS TO FIGHT LOWE SYNDROME INDIANAPOLIS - Families of children with a rare, severely debilitating genetic disorder will get a firsthand look this weekend at an Indiana University-Purdue University Indianapolis (IUPUI) researcher's efforts to understand what causes the disease. A half-dozen families from as many states will visit the laboratory of IUPUI biology Professor Bonnie Blazer-Yost from 1:30 - 2:30 p.m. Saturday (Sept. 22) as part of a two-day celebration commemorating a Pennsylvania woman's 600-mile trek to Indianapolis to raise funds to fight Lowe Syndrome. The 600 Mile Walk for Lowe Syndrome began over a month ago when Ann Keefer set out on foot to raise funds in honor of her nephew, Larry Barnett, 3, of Westfield, Ind. Barnett is a Lowe Syndrome patient at Riley Hospital for Children. His aunt's fund-raising walk to Indianapolis will culminate with a 5K walk Sunday at the Michael A. Carroll Track and Soccer Stadium on the IUPUI campus.

68. LSA, 9th International Conference On Lowe Syndrome MediConf ®. World Calendar of Medical Events. LSA, 9th International Conference on lowe syndrome. human genetics, neurology, urology http://mediconf.de/recstitl/20998402.HTM

MediConf World Calendar of Medical Events LSA, 9th International Conference on Lowe Syndrome human genetics, neurology, urology, pediatrics, nephrology, congenital malformations, mental retardation, aminoaciduria, reduced ammonia production by the kidney, Lowe syndrome, oculocerebrorenal syndrome, X-linked progressive inheritance, family life For details on this meeting and more meetings in the same field visit our Medical Specialty Calendar MediConf lists over 10000 future events including conferences, workshops, seminars, symposia and exhibitions in the fields of medicine, healthcare, pharmacology, and biotechnology. Every medical specialty is included, from allergy to zoonoses. MediConf is an excellent source of information for healthcare professionals and the pharmaceutical industry worldwide. Tel. +49 (511) 443330, Fax: +49 (511) 442770, Email: mediconf@aol.com

69. GEMdatabase - Selected Title TITLE lowe syndrome. DESCRIPTION This review focuses on the diagnosis, management, and genetic counseling of patients and families http://www.gemdatabase.org/GEMDatabase/TitleDetailsOne.asp?TitleID=929

70. 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 Person In Charge: Contact Person:Kaye McSpadden Hours: Call for information. Eligibility: Fees: $15 annually. Intake Process: No. Service Area: National. Handicap Accessibility: No Program/Service Notes: -Provides information, fosters communication and supports research. This information was last updated on 01/02/2004 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

71. Reporter - Jono, DJ With A Heart JONO Coleman, breakfast DJ on London s Heart 106.2 radio station, hit a high note when as Patron of the lowe syndrome Trust, he presented a £49,785 cheque to http://www.imperial.ac.uk/P4792.htm

Issue 135, 10 December 2003 Contents RobotWars... this time it's personal Jono, DJ with a heart Students steal the show In tune for the big show ... What's On Jono, DJ with a heart by Tom Miller The money, raised by the Trust, will fund three years of research at the College into Lowe Syndrome, an incurable, rare disease affecting up to 10 per million male births, and often resulting in bilateral cataracts, muscle weakness, and kidney and brain development problems. Work will include chemical test for signs of the OCRL enzyme which could lead to a fast, user-friendly and reliable method to help doctors diagnose and treat the Syndrome. The defective enzyme means that carriers cannot control levels of the molecule, PIP2, which leads to the development of Lowe Syndrome symptoms. The Lowe Syndrome Trust was set up in 2000 by Lorraine Thomas, mother of 10-year old son Oscar who was diagnosed with the disease in 1999. "We were devastated when Oscar was diagnosed with the syndrome," she said. "I am so grateful for the research being carried out at Imperial College. "Hopefully, it will produce a simple test for Lowe Syndrome, leading to the development of medicines to better regulate the metabolic imbalance, or perhaps even lead the way to synthesising the missing enzyme."

72. NCDSA - Skate Across America sponsor ad. Click Here to Make a Difference Against lowe syndrome! ncdsa ad, for 2004.. request info. Skate Across America for lowe syndrome (3 Posts). http://www.ncdsa.com/gen_tab1.asp?CatID=52&IPSearchOnPostID=157927

73. Etnies.com Skaters Set to Cross America by Board for lowe syndrome On August 2, a team of veteran skaters is poised to make history this summer by pushing their http://www.etnies.com/news/skate/story.php?id=614

74. Any Search Info - Directory: Health Conditions And Diseases Genetic Disorders Lo Any Search Info. lowe syndrome Association Information about this disease and the international organization that deals with it. url www.lowesyndrome.org. http://search-info.com/search/engine/index/Health/Conditions_and_Diseases/Geneti

Top Health Conditions and Diseases Genetic Disorders : Lowe Syndrome [4] Description Directory Results: Categories: Health: Conditions and Diseases: Neurological Disorders: Brain Diseases Health: Conditions and Diseases: Nutrition and Metabolism Disorders Web Site Matches: Lowe Syndrome Association Information about this disease and the international organization that deals with it. url: www.lowesyndrome.org National Library of Medicine: LS Lowe syndrome, the synonyms, a summary and list of major features. url: www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome4.... Pediatric Database An in depth look at lowe syndrome starting with a definition, epidemiology, pathogenesis, clinical features, investigations and management. url: www.icondata.com/health/pedbase/files/LOWE(OCU.HTM Readers Digest Health Lowe Syndrome, its alternate names, a general discussion and resources. url: www.rd.com/common/nav/index.jhtml?articleId=861207.... Home Link To Us About Us Submit URL ... Advertise Last update: 3:38 PT, Tuesday, April 13, 2004 Help build the largest human-edited directory on the web.

75. Skaters Cross U.S. For Cause - Mansfieldnewsjournal.com Smith Josh Maready, Kam and Nick Krest are skateboarding across the country to raise money to fight lowe syndrome. lowe syndrome. http://www.mansfieldnewsjournal.com/news/stories/20030819/localnews/88429.html

OAS_sitepage = 'news.mansfieldnewsjournal.com/stories/localnews'; OAS_listpos = 'Bottom,Right1'; OAS_query = ''; OAS_target = '_top'; pageName = "20030819 - Local News: Skaters cross U.S. for cause"; edition = "20030819"; Home News Entertainment Classifieds ... Customer Service site = "NNCO" section="HOME" gnsSite ="mansfieldnewsjournal"; Home News Local News Local Sports ... Zanesville Tuesday, August 19, 2003 Local News Skaters cross U.S. for cause Group raising money to fight rare disease By Norm Narvaja News Journal Dave Polcyn/News Journal Right to left, Scott Kam, 33, Ken Mollica, 38, and Jack Smith, 46, skateboard on Main Street in Lexington on Monday. Smith Josh Maready, Kam and Nick Krest are skateboarding across the country to raise money to fight Lowe Syndrome. Lowe Syndrome Lowe Syndrome is a rare genetic condition that causes mental retardation, seizures and vision-related problems. The condition affects only males, but females can carry the gene that causes the disorder. There is no cure but symptoms of the condition can be treated. For more information, visit the Lowe Syndrome Association's Web site at

76. PNAS -- Abstracts: Ungewickell And Majerus 96 (23): 13342 Vol. 96, Issue 23, 1334213344, November 9, 1999. Medical Sciences Increased levels of plasma lysosomal enzymes in patients with lowe syndrome. http://www.pnas.org/cgi/content/abstract/96/23/13342

Full Text of this Article PDF Version of this Article Similar articles found in: PNAS Online ISI Web of Science PubMed PubMed Citation This Article has been cited by: other online articles Search PubMed for articles by: Ungewickell, A. J. Majerus, P. W. Search for citing articles in: ISI Web of Science (8) Alert me when: new articles cite this article Download to Citation Manager Vol. 96, Issue 23, 13342-13344, November 9, 1999 Medical Sciences Increased levels of plasma lysosomal enzymes in patients with Lowe syndrome 5-phosphatase inositol signaling phosphatidylinositol 4,5-bisphosphate X-linked disorder enzyme trafficking Alexander J. Ungewickell and Philip W. Majerus Department of Internal Medicine, Division of Hematology, Washington University School of Medicine, St. Louis, MO 63110 Contributed by Philip W. Majerus, September 27, 1999 Lowe syndrome is an X-linked disorder that has a complex phenotype that includes progressive renal failure and blindness. The disease is caused by mutations in an inositol polyphosphate 5-phosphatase designated OCRL. It has been shown that the OCRL

77. Health - Conditions And Diseases - Genetic Disorders - Lowe Tutorials, Web Design Tutorial, Resources. Search Top Health Conditions and Diseases Genetic Disorders lowe syndrome See also http://www.sedirectory.net/Health/Conditions_and_Diseases/Genetic_Disorders/Lowe

Web Hosting Dir Web Design Dir Search Engine Dir Hardware Info ... Resources Search: Top Health Conditions and Diseases Genetic Disorders ... Lowe Syndrome See also: Health: Conditions and Diseases: Neurological Disorders: Brain Diseases Health: Conditions and Diseases: Nutrition and Metabolism Disorders Lowe Syndrome Association - Information about this disease and the international organization that deals with it. National Library of Medicine: LS - Lowe syndrome, the synonyms, a summary and list of major features. Pediatric Database - An in depth look at lowe syndrome starting with a definition, epidemiology, pathogenesis, clinical features, investigations and management. Readers Digest Health - Lowe Syndrome, its alternate names, a general discussion and resources.

78. Page Title can t believe it has been a year since we received the lowe syndrome (LS) diagnosis for our son, Kyle, and my husband, Greg, Kyle and I headed off to the 2002 http://www.main.org/txp2p/2003News/page31.html

Newsletter Index Home The Search for a Diagnosis By Debbie Jacobs, Dallas, Tx can't believe it has been a year since we received the Lowe Syndrome (LS) diagnosis for our son, Kyle, and my husband, Greg, Kyle and I headed off to the 2002 LSA conference in Chicago. It took us almost 12 years to receive the LS diagnosis and, during that time, we always questioned Kyle's medical and behavioral difficulties. Kyle was born October 19, 1990, two months premature and spent 4 weeks in the NICU. During those long hours and days, Kyle went through many tests and we were told he had cerebral palsy. The doctors explained he had damage to his white brain matter (cerebral palsy) and peripheral cataracts due to being on the ventilator for an extended period of time. When we finally brought Kyle home he was on an apnea monitor for the first 12 months because, at times, he forgot to breathe. As parents of a child that required constant medical attention, we knew our son had a long road ahead of him. The doctors believed Kyle would be delayed, but given time along with extensive therapy, he would catch up. We enrolled him in every form of therapy recommended by his doctors. We engaged him in play groups, early childhood schooling and social activities that we believed would enable him to play catch up. Kyle was unable to hold his head up until he was almost 9 months old. He didn't sit unassisted until almost 12 months and he didn't crawl and walk until many years later. We watched as Kyle grew and rejoiced at the milestones that are taken for granted by most parents.

79. PhatNav Directory - Health/Conditions_and_Diseases/Genetic_Disorders/Lowe_Syndro WebSites. lowe syndrome Association. National Library of Medicine LS. lowe syndrome, the synonyms, a summary and list of major features. Pediatric Database. http://www.phatnav.com/directory/Health/Conditions_and_Diseases/Genetic_Disorder

Games Exploration Attitude Site Search Encyclopedia Atlas/Almanac Kids' Web Sites Classic Books Home Games Arcade Games Strategy Games ... Health NOTE: Entries below may contain matching catagories, paths to similar directories, and suggested Web sites. Scroll to see all. Similar Catagories in This Section Health/Conditions and Diseases/Neurological Disorders/Brain Diseases Health/Conditions and Diseases/Nutrition and Metabolism Disorders WebSites Lowe Syndrome Association Information about this disease and the international organization that deals with it. National Library of Medicine: LS Lowe syndrome, the synonyms, a summary and list of major features. Pediatric Database An in depth look at lowe syndrome starting with a definition, epidemiology, pathogenesis, clinical features, investigations and management. Readers Digest Health Lowe Syndrome, its alternate names, a general discussion and resources. Top of this directory. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor PhatNav and Diagonal Media Group Inc.

80. Lowe's Syndrome Information Diseases Database lowe's syndrome loweTerry-MacLachlan syndrome Oculocerebral syndrome Oculocerebrorenal syndrome lowe-Bickel syndrome, Disease Database Information 5 synonyms or equivalents were found. lowe's syndrome. aka/or. lowe-Terry-MacLachlan syndrome Oculocerebral syndrome. aka/or. Oculocerebrorenal syndrome. aka/or. lowe-Bickel syndrome http://www.diseasesdatabase.com/ddb29146.htm

Diseases Database Index Sponsors Contact ... Previous Page Lowe's syndrome Information Search 5 synonyms or equivalents were found. Lowe's syndrome aka/or Lowe-Terry-MacLachlan syndrome aka/or Oculocerebral syndrome aka/or Oculocerebrorenal syndrome aka/or Lowe-Bickel syndrome may cause or feature (Follow link for list) belong(s) to the category of (Follow link for list) Lowe's syndrome: Definition(s) via UMLS Code translations and terms via UMLS Lowe's syndrome: specific sites Send Lowe's syndrome to medical search engines (JavaScript enabled browsers only) If your browser has no JavaScript you can still use these: Search using Internet medical databases Search using Internet search engines (non-specialist) We subscribe to the HONcode principles of the Health On the Net Foundation i-medicine.info - the evidence based medicine, informatics and audit portal Valid XHTML 1.0 Served 2004-06-02 23:50:36 Metadata Updated 2004-05-22

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