61. Health/Conditions And Diseases/Genetic Disorders/Lowe Syndrome -- The Doctors Lo Ask the doctor. Get free medical consultation and advice. Choose a medicalspecialist and post your question! Doctors in all medical fields are available. http://www.thedoctorslounge.net/dir/Health/Conditions_and_Diseases/Genetic_Disor

Advertisement Powered by Careerbuilder Search for: Home Humor Advertising Contact ... Links Specialties Cardiology Chest diseases Dermatology Endocrinology ... Urology Other Sections Membership Research Tools Medical Tutorials Medical Software ... Specialized Centers Headlines: The Medical Website Directory Popular Categories Popular Links Web Sites report abuse/spam url: report-abuse.dmoz.org/?cat=Health/Conditions_and_D... 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... mozilla.org url: www.mozilla.org/ Wikipedia url: wikipedia.org/ edit url: editors.dmoz.org/editors/editcat.cgi?cat=Health/Co... More Search All the Web AltaVista Gigablast Google USENET ... Yahoo In association with ODP Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Are you a physician or a nurse? Would you like to join us and help patients online by volunteering even a few minutes of your time?

62. News Release: IUPUI woman s 600mile 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 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.

63. Lowe Syndrome, Eastern Carolina lowe syndrome University Health Systems of Eastern Carolina serves tarboro,ahoskie, edento, winsor, maxhead, dear county, outebanks counties in eastern http://www.uhseast.com/117441.cfm

Health News Health Library Health Topics Healthy Living ... Nutrition Self-Help Resources Information about national and local self-help organizations and support groups. Lowe Syndrome This information is provided as a resource and does not constitute an endorsement for any group. It is the responsibility of the reader to decide whether a group is appropriate for his/her needs. For evidence-based information on diseases, conditions, symptoms, treatment and wellness issues, continue searching this site. Lowe Syndrome Association International network. Founded 1983. For parents, friends, professionals and others who are interested in Lowe Syndrome. Provides medical and educational information and online discussion. Supports medical research. Offers booklet, newsletter. International conference. Dues $15 (can be waived if parents are in need). WRITE: Lowe Syndrome Assn. 222 Lincoln St. W. Lafayette, IN 47906 CALL: 765-743-3634 E-MAIL: info@lowesyndrome.org WEBSITE: http://lowesyndrome.org VERIFIED: 6/3/2004 The above information was "verified" as correct on the date at the end of each entry. Since American Self-Help Group Clearinghouse's database is extensive but staffing is limited and information for these organizations can change, it is not possible to keep every entry in American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information.

64. UCL News Penny Lancaster, Patron of the lowe syndrome Trust, presented a cheque for £50000 lowe syndrome is a rare incurable disorder that affects only boys and http://www.ucl.ac.uk/news/for-ucl/latest/newsitem.shtml?05071801

65. Oculocerebrorenal Syndrome The lowe syndrome Mutation Database is produced by Genetic Disease Research Branch Lowe oculocerebrorenal syndrome is an Xlinked disorder caused by http://bioresearch.ac.uk/browse/mesh/D009800.html

low graphics Oculocerebrorenal Syndrome 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. Phosphoric Monoester Hydrolases Oculocerebrorenal Syndrome Molecular Sequence Data Databases, Genetic ... Database [Publication Type] Last modified: 09 Sep 2005

66. Orbigen Inc. - Orbigen Inc. Oculocerebrorenal syndrome of Lowe (OCRL) polyclonal antibody RL The deficiencyof PIP2 5phosphatase in lowe syndrome affects actin polymerization. http://www.orbigen.com/commerce/catalog/product.jsp?product_id=1730

67. Lowe Syndrome Association . Provides support and information forfamilies affected by lowe syndrome.......lowe syndrome Association http://193.112.136.164:81/inform/published/1263/1264.html

Lowe Syndrome Association This document was last edited : 13/5/2005 Contact: D and J Oliver UK Contact Group 29 Gleneagles Drive Preston Lancashire Telephone: Fax: Email: Meeting Details: None specific. Description: Provides support and information for families affected by lowe syndrome. Locations: Outside Stockport Subjects: Disability ; Lowe Syndrome ; Self Help

68. OCRL - Inositol Polyphosphate 5-phosphatase OCRL-1 lowe syndrome protein OCRL1 interacts with Rac GTPase in the transGolgi network . Fetal oculocerebrorenal syndrome of Lowe associated with elevated http://www.pdg.cnb.uam.es/UniPub/iHOP/gg/90723.html

Fetal oculocerebrorenal syndrome of Lowe associated with elevated maternal serum and amniotic fluid alpha-fetoprotein levels. Abstract-8223211 Lowe syndrome protein interacts with Rac GTPase in the trans-Golgi network Abstract-10136291 Immunofluorescence studies in HEK and COS7 cells and Golgi perturbation assays with Brefeldin A demonstrated that a fraction of endogenous Rac co-localizes with and gamma-adaptin in the trans-Golgi network Abstract-10136291 Activated Rac GTPase was found to stably associate with the OCRL1 RhoGAP domain in vitro and to co-immunoprecipitate with endogenous Abstract-10136291 LOCR is excluded from the ABO, MNS, Lutheran, Kell, Duffy, Kidd, Xg, Chido/Rodgers, Kx , and Gerbich blood group systems. Abstract-8064603 Dd5P3 and Dd5P4 have a domain composition similar to human Synaptojanin with a SacI domain and OCRL with a RhoGAP domain, respectively. Abstract-9857040 The lods for the gene controlling LOCR relative to Rh are 2.107 at

69. Ocrl - Oculocerebrorenal Syndrome Of Lowe lowe syndrome protein OCRL1 interacts with Rac GTPase in the transGolgi network.Abstract-10136291. Immunofluorescence studies in HEK and COS7 cells and http://www.pdg.cnb.uam.es/UniPub/iHOP/gg/145546.html

Lowe syndrome protein interacts with Rac GTPase in the trans-Golgi network Abstract-10136291 Immunofluorescence studies in HEK and COS7 cells and Golgi perturbation assays with Brefeldin A demonstrated that a fraction of endogenous Rac co-localizes with and gamma-adaptin in the trans-Golgi network Abstract-10136291 Activated Rac GTPase was found to stably associate with the OCRL1 RhoGAP domain in vitro and to co-immunoprecipitate with endogenous Abstract-10136291 We crossed mice deficient in to mice deficient in Abstract-1448756 protein is a phosphatidylinositol 4,5-bisphosphate 5-phosphatase with a C-terminal RhoGAP domain. Abstract-10136291 appears to be a bifunctional protein which, in addition to its PIP2 5-phosphatase activity, binds to Rac GTPase. Abstract-10136291 Functional overlap between murine and may explain why deficiency of the murine ortholog for does not cause Lowe syndrome in mice. Abstract-1448756 By immunofluorescence, the ocrl-1 antibody stains a juxtanuclear region in normal fibroblast cells, while no specific staining is evident in the

70. Fundopps For Bio Sci lowe syndrome Research (LSA), Deadline Oct 15 SCOPE The lowe syndromeAssociation is inviting grant applications to support research aimed at http://www.bio.uci.edu/fundopps/grants090704_6.html

Funding Opportunities for Bio Sci DATE: 09/07/2004 Lowe Syndrome Research (LSA), Deadline: Oct 15

71. Associazione Italiana Sindrome Di Lowe Molecular confirmation of carriers for lowe syndrome. Ophthalmology. First report of prenatal biochemical diagnosis of lowe syndrome. Prenat Diagn. http://aislo.negrisud.it/guida/referenze.html

. Home . Cos'è l'Aislo? . Notizie ed Eventi . Contatti ... . F.A.Q. Associazione Italiana Sindrome di Lowe "VIVERE CON LA SINDROME DI LOWE" Indietro Indice Prefazione Domande frequenti Introduzione Caratteristiche mediche Genetica Stato della Ricerca Sviluppo ed Istruzione Genitori e famiglie: vivere con la sindrome di Lowe Parole d'incoraggiamento L'Associazione Americana della Sindrome di Lowe Glossario Referenze Medico-Scientifiche 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.

72. *300535 OCRL1 GENE; OCRL1 In fibroblasts from patients with lowe syndrome, Suchy and Nussbaum (2002) In a total panel of 44 unrelated families affected by lowe syndrome, http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:300535] -e

73. 309000 LOWE OCULOCEREBRORENAL SYNDROME; OCRL A number sign ( ) is used with this entry because lowe syndrome can be caused (1970) proposed that this is a special type of lowe syndrome that may have http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:309000] -e

74. Surgery Door - Support Groups lowe syndrome Association. 29 Gleneagles Drive Penwortham Preston The LoweSyndrome Association publishes a newsletter 3 times a year and holds http://www.surgerydoor.co.uk/sg/detail.asp?Recno=26738819

75. Surgery Door - Support Groups The lowe syndrome Trust was formed as a Charity in June 2000 as an affiliate ofthe international lowe syndrome Association USA. http://www.surgerydoor.co.uk/sg/detail.asp?Recno=26741035

76. Informagene - Dizionario Translate this page The deficiency of PIP2 5-phosphatase in lowe syndrome affects actin polymerization . First report of prenatal biochemical diagnosis of lowe syndrome. http://www.telethon.it/informagene/dettaglio_malattia.asp?id=110

77. Lowe Sendromlu Bir Olgunun Davranýþ Fenotipine Yaklaþým; Seven Ve Ark. The lowe syndrome or oculocerebrorenal syndrome is a rare X linked recessive In this paper a 12year old male patient with lowe syndrome has been http://www.ctf.istanbul.edu.tr/dergi/online/1998v29/s1/981o1.htm

LOWE SENDROMLU BÝR OLGUNUN DAVRANIÞ FENOTÝPÝNE YAKLAÞIM* Mehmet SEVEN, Zuhal SUYUGÜL, Adnan YÜKSEL, Seniha HACIHANEFÝOÐLU, Ahmet AYDIN, Asým CENANÝ Background.- The Lowe syndrome or oculocerebrorenal syndrome is a rare X linked recessive hereditary diseases which involves ocular defects, nervous system anomalies and renal dysfunction. The stubborness, temper tantrums and complex repetitive movements (stereotypy) are seen frequently in these patients. Whether these behavior patterns simply reflect the multiple disabilities found in some developmentally impaired irýdividuals with or without Lowe syndrome or is a specific genetically - determined behavioral phenotype of Lowe syndrome is unknown. Observation.- In this paper a 12-year old male patient with Lowe syndrome has been described with behavioral anomalies like stubborness, temper tantrums and stereotypic behaviours. Seven M, Suyugül Z, Yüksel A, Hacýhanefioðlu S, Aydýn A, Cenani A. The approachment to behavioral phenotype of a case with Lowe syndrome. Cerrahpaþa J Med GÝRÝÞ Lowe sendromu (LS), diðer ismiyle okuloserebrorenal sendrom, konjenital katarakt, glokom, nistagmus gibi oküler defektlerin, hipotoni, mental retardasyon, arefleksi gibi sinir sistemi bozukluklarýnýn ve ilerleyici renal tübüler disfonksiyon, asidozis, hiperaminoasidüri gibi renal disfonksiyonlarýn görüldüðü, daha çok beyaz ve sarý ýrkta rastlanan X'e baðlý resesif bir hastalýktýr.

78. The Health Library — Genetics And Birth Defects lowe syndrome. What is lowe syndrome?lowe syndrome Association Living withlowe syndromelowe syndrome Association lowe syndromeGeneReviews http://healthlibrary.stanford.edu/resources/internet/bodysystems/genetic_mca_dm.

Diseases and Disorders Use these links to jump directly to your topic of interest in Genetics and Birth Defects: Genetics: General Genetics Gene Therapy Genetic Counseling Genetic Testing ... Genetics of Specific Diseases Birth Defects: General Birth Defects Cardiovascular Defects Connective Tissue Disorders Craniofacial Anomalies ... S - W Multiple Congenital Anomalies (D - M) Jump to: A B C D ... P Q R S T U ... W X Y Z Deafness-Dystonia-Optic Neuronopathy Syndrome (DFN-1, Mohr-Tranebjaerg Syndrome) Deafness-Dystonia-Optic Neuronopathy Syndrome:GeneReviews Down Syndrome Down Syndrome:March of Dimes Facts About Down Syndrome:NICHD Down Syndrome (Trisomy 21):Lucile Packard Children's Hospital Information and Resources:National Down Syndrome Society ... Let's Talk About Down Syndrome:netLibrary for Kids] Everything You Need to Know About Down Syndrome:netLibrary [for Teens] Down Syndrome : A Promising Future, Together:netLibrary Down Syndrome:Genetics Home Reference, NLM Down Syndrome:Society for Neuroscience Down Syndrome:MedlinePlus Dyskeratosis Congenita Dyskeratosis Congenita:Madisons Foundation Dyskeratosis Congenita:eMedicine Dyskeratosis Congenita:National Cancer Institute Ectodermal Dysplasia Ectodermal Dysplasia (EDS):U.C. Davis Children's Hospital

79. The Lowe Syndrome Trust Sponsorship News Uksponsorship.com Information for UK sponsors about sponsorship opportunities with The lowe syndromeTrust. http://www.uksponsorship.com/a573.htm

80. Biomedical Funding News: September 2001 -- Cottingham, 2001-10-01, UNITED STATES Fund for Medical Scientific Research (lowe syndrome Association) but alsoto promote research into the causes and treatment of lowe syndrome, http://nextwave.sciencemag.org/cgi/content/full/2001/10/30/1

Biomedical Funding News October 2001 WRITTEN BY: KATIE COTTINGHAM UNITED STATES 1 October 2001 Visit GrantsNet's News Page for current update. For more funding news, visit our Funding Directory FEDERAL CORNER: SPOTLIGHT ON ELECTRONIC GRANT SUBMISSION Federal Commons Electronic Grant Submission THIS IS YOUR GRANTSNET – WHAT DO YOU THINK? Give Us Feedback! NEW FELLOWSHIPS FOR INDIVIDUALS: Research Initiative to Create Parkinson's-Specific Cell Line (Michael J. Fox Foundation for Parkinson's Research) E.D. Thomas Fellowship (Friends of the Jose Carreras International Leukemia Foundation) Postdoctoral Fellowship in Genetics Research (National Psoriasis Foundation) DeLill Nasser Award for Professional Development in Genetics for Postdocs and Graduate Students (Genetics Society of America) NEW AWARD FOR INSTITUTIONS: Medical Student Research Scholars (NIDDK) UNDERGRADUATE FUNDING: Undergraduate Research Summer Fellowship Program (Council on Undergraduate Research) DEADLINE WATCH: Research Grants (The Skin Cancer Foundation) Geriatrics/Oncology Training Program Development Grant (American Society of Clinical Oncology) Graduate Research Fellowships (National Science Foundation) Dissertation Fellowships (American Association of University Women) PROFILE OF THE MONTH: Pickwick Postdoctoral Fellowship in Sleep (National Sleep Foundation) SCIENCE'S NEXT WAVE OCTOBER FEATURE: Careers in Patent Law FEDERAL CORNER: SPOTLIGHT ON ELECTRONIC GRANT SUBMISSION 1) Federal Commons Electronic Grant Submission After wasting precious research time wrestling with printer toner cartridges, jammed photocopiers, and cantankerous administrators, have you ever wished that there was an easier way to submit your grant application? Well, in just a couple of years you may be able to transmit your grant proposal over the Internet to any federal grant-making agency with a few keystrokes! The idea is to connect all federal agencies to something called Federal Commons, a single Web portal through which users will be able to search for grant announcements, submit applications, and check on the funding status of their proposals. For the whole story, check out our Federal Corner article at:

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