Www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Oculocereb MedlinePlus Medical Encyclopedia Fanconis syndromeLowe s disease (oculocerebrorenal syndrome), a rare genetic disorder of the eyes,brain, and kidneys, can also cause Fanconi s syndrome. http://www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Oculocerebrorenal Syndrome
Extractions: Vol. 121 No. 9, September 2003 Featured Link E-mail Alerts Clinical Sciences Article Options Full text PDF Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Kruger SJ Saunders RA ISI Web of Science (1) Contact me when this article is cited Topic Collections Cataracts/ Lens Glaucoma Topic Collection Alerts
OCRL - Oculocerebrorenal Syndrome Of Lowe Mutations linked to the disease oculocerebrorenal syndrome of Lowe led to theidentification of the OCRL gene. The encoded protein is a phospatidylinositol http://www.urogene.org/kgdb/gene/37.html
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Rare Diseases Terms - Office Of Rare Diseases Dresistant rickets, aminoaciduria, and reduced ammonia production by the kidney.Information about Lowe oculocerebrorenal syndrome is available from http://ord.aspensys.com/asp/diseases/diseaseinfo.asp?ID=3295
12398-cpr Lowe oculocerebrorenal syndrome. I am seraching for Labs performing moleculardiagnosis on Ataxia Telangiectasia and Lowe oculocerebrorenal syndrome. http://hum-molgen.org/clinical/151198-cpr1.html
Extractions: November, 15 1998 Lowe Oculocerebrorenal Syndrome I am seraching for Labs performing molecular diagnosis on Ataxia Telangiectasia and Lowe Oculocerebrorenal Syndrome. This message is especially urgent for AT: the family, with one affected and clinically diagnosed sib, is willing to have another child as soon as possible. Thanks in advance, 08950 Esplugues, Barcelona, Spain E-mail: emonros@HSJDBCN.ORG Tel: +34 93 2532100 ext 2275 Fax: +34 93 2803626
HUM-MOLGEN Archive: DIAG: 6 Messages Lowe oculocerebrorenal syndrome 2) BannayanZonana syndrome/ Cowden s 1) Ataxia Telangiectasia and Lowe oculocerebrorenal syndrome I am seraching http://hum-molgen.org/mail-archive/1998-Nov/msg00000.html
Medical And Scientific References Chamas LR, Gahl WA (1991) The oculocerebrorenal syndrome of Lowe. Charnas LR,Nussbaum RL (1994) Lowe syndrome (The oculocerebrorenal syndrome of http://www.lowesyndrome.org/Lowe Syndrome/Publications/Living with Lowe Syndrome
Extractions: Table Of Contents Foreword I. Frequently Asked Questions II. Background III. Medical Features IV. Genetics V. Research VI. Development and Education VII. Parents and Families: Living with LS VIII. The Lowe Syndrome Association IX. Glossary X.Medical and Scientific References X. Medical and Scientific References Following is a list of several significant papers published in recent years:
Lowe Syndrome Association OlivosGlander IM, Janne PA, Nussbaum RL (1995) The oculocerebrorenal syndromegene product is a 105-kD protein localized to the Golgi complex. http://www.lowesyndrome.org/Lowe Syndrome/Publications/On The Beam/otb1996v15n1-
Extractions: breadCrumbs("www.lowesyndrome.org",">>","index.html","breadcrumbs","breadcrumbsTitle","breadcrumbs","0"); On The Beam Researchers discover Lowe syndrome gene causes enzyme deficiency Diagnostic test available soon In a stunning year-end announcement, researchers reported that they have discovered the basic metabolic defect in Lowe syndrome. In a paper published in the December 1995 issue of Human Molecular Genetics, Robert L. Nussbaum, M.D., and his colleagues at the National Institutes of Health in Bethesda, Maryland, reported their discovery that the defective Lowe syndrome gene causes the deficiency of an enzyme that is essential to inositol metabolism. The team's research indicated that cell lines from fibroblasts (skin samples) of individuals with Lowe syndrome are missing an enzyme called phosphatidylinositol 4,5-biphosphate 5 phosphatase. This enzyme removes one molecule of phosphate from a phospholipid called phosphatidylinositol 4,5-biphosphate (or PtdIns[4,5]P for short) and converts it into phosphatidylinositol 4-phosphate (PtdIns[4]P for short).
Geneticalliance.org Lowe syndrome Also known as oculocerebrorenal syndrome Support Groups Lowe Syndrome Association 222 Lincoln Street West Lafayette, IN 47906 http://www.geneticalliance.org/ws_display.asp?filter=support_groups_by_disease&t
Geneticalliance.org eMedicine Oculocerebrorenal Dystrophy (Lowe Syndrome)Lowe syndrome Also known as oculocerebrorenal syndrome Clinical http://www.geneticalliance.org/ws_display.asp?filter=resources_by_disease&keywor
Extractions: Diseases and Disorders Links pertaining to Congenital, Hereditary, and Neonatal Diseases and Abnormalities Alert! Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Start Page Contents: Abnormalities Aicardi Syndrome (not on MeSH) Amniotic Band Syndrome Anencephaly ... Wolf-Hirschhorn Syndrome (not on MeSH) Congenital, Hereditary, and Neonatal Diseases and Abnormalities The US National Organization for Rare Disorders , including a Rare Disease Database , and a List of Disease-specific Organizations Search Jablonski's MCA/MR Syndromes Database -NOTE: info may be outdated!! [Congenital Abnormalities associated with Mental Retardation] - NLM (US) Indice delle malattie [in Italian] - InformaGene (IT) A Short History of Mapping [B Mertz] - Access Excellence GENATLAS: Pathology Search [J Frezal] - Univ Rene Descartes, Paris (FR) OrphaNet [rare diseases] - (FR) A Birth Disorder Information Directory - Spamgid.com
Contributed By Dr The oculocerebrorenal syndrome of Lowe (OCRL) is caused by the loss of thephosphatidylinositol 4,5bisphosphate PI(4,5)P2 5-phosphatase activity encoded http://www.lowetrust.com/meeting021204.htm
Extractions: back Press release email: lowetrust @ homechoice.co.uk (+44) 208-458-6791 2004 International Lowe Syndrome Medical Symposium at the Royal Society London Funded and organised by the charity, the first international conference on Lowe Syndrome was held on 2 nd December 2004 at The Royal Society in London, followed by a dinner at the RAC club. This historical event brought together over 50 international researchers, medical professionals and a parent to present and discuss the disease, current research underway and ideas for future projects. The outcome of the discussions on the links between Dents disease and Lowe syndrome clearly indicated that clinical syndromes as they are described in the medical literature are not simply accounted by a single or multiple gene defects. See Press Release The meeting was chaired by Prof. Robert Unwin UCL and was opened by Lord Turnberg, Scientific Advisor to the AMRC, followed by Prof. Nussbaum head of the cell biology division of the National Human Genome Research Institute in the United States. Robert discovered the Lowe's syndrome gene on the X-chromosome and has been instrumental in Lowe Syndrome research. Presenters included Dr. William vant Hoff, Great Ormond Street Hospital
Orbigen Inc. - Orbigen Inc. oculocerebrorenal syndrome of Lowe (OCRL) polyclonal antibody manifestations ofLowe oculocerebrorenal syndrome which is characterized by hydrophthalmia http://www.orbigen.com/commerce/catalog/product.jsp?product_id=1730
Ocrl - Oculocerebrorenal Syndrome Of Lowe Abstract10136291. Please click here for more information on Ocrl. The followingsynonyms exist for gene Ocrl (oculocerebrorenal syndrome of Lowe) OCRL1. http://www.pdg.cnb.uam.es/UniPub/iHOP/gg/145546.html
