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

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.
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  • 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 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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