1. EMedicine - Oculocerebrorenal Syndrome : Article By DM Alcorn, MD oculocerebrorenal syndrome oculocerebrorenal syndrome (OCRS) is an X-linkedrecessive metabolic disorder described by Lowe and coworkers in 1952. http://www.emedicine.com/oph/topic516.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Ophthalmology Metabolic Disorders Oculocerebrorenal Syndrome Last Updated: June 7, 2005 Rate this Article Email to a Colleague Synonyms and related keywords: OCRS, Lowe syndrome AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: DM Alcorn, MD , Director of Pediatric Ophthalmology and Strabismus, Lucile Packard Children's Hospital; Associate Professor, Departments of Ophthalmology and Pediatrics, Stanford University School of Medicine DM Alcorn, MD, is a member of the following medical societies: American Academy of Ophthalmology , and American Association for Pediatric Ophthalmology and Strabismus Editor(s): Andrew Lawton, MD , Medical Director of Neuro-Ophthalmology Service, Section of Ophthalmology, Baptist Eye Center, Baptist Health Medical Center; Francisco Talavera, PharmD, PhD

2. EMedicine - Oculocerebrorenal Syndrome Article By DM Alcorn, MD oculocerebrorenal syndrome oculocerebrorenal syndrome (OCRS) is an X-linked recessive metabolic disorder described by Lowe and coworkers in 1952. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

3. Penn State Faculty Research Expertise Database (FRED) Lowe oculocerebrorenal syndrome LoweBickel Syndrome. Lowe-Terrey-MacLachlan Syndrome Oculocerebrorenal Dystrophy http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

4. Oculocerebrorenal Syndrome Lowe oculocerebrorenal syndrome is an Xlinked disorder caused by mutations inthe OCRL1 gene, which encodes a 105- kDa Golgi protein with 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

5. Short Description Of Cell Lines. Pathology Lowe Oculocerebrorenal Short description of cell lines. Pathology Lowe oculocerebrorenal syndrome *309000 OMIM record http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

6. Oculocerebrorenal Syndrome giving the alternative clinical name of oculocerebrorenal syndrome. The Website of the Lowe Syndrome Trust provides more information about this rare http://omni.ac.uk/browse/mesh/D009800.html

low graphics Oculocerebrorenal Syndrome other: Acidosis, Renal Tubular UK Lowe syndrome trust Lowe syndrome is a genetic disorder, mainly to be found in boys, characterised by multiple mental and physical handicaps. The eyes the nervous system and the kidneys are affected, giving the alternative clinical name of Oculocerebrorenal Syndrome. The Web site of the Lowe Syndrome Trust provides more information about this rare disorder, its clinical manifestations, and the treatment and care of children who suffer from it. Information is given on the Trust's support for research, its fundraising and other activities. There are links to other useful sites and pages for parents of Lowe Syndomr children. Oculocerebrorenal Syndrome Last modified: 09 Sep 2005

7. OCULOCEREBRORENAL SYNDROME (Search FastHealth.com) oculocerebrorenal syndrome FastHealth Medical Dictionary http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

8. Listing By Alphabetical Subject Heading: Embryology The eyes the nervous system and the kidneys are affected, giving the alternativeclinical name of oculocerebrorenal syndrome. http://omni.ac.uk/browse/subject-listing/QS604.html

low graphics up Embryology American Society for the Surgery of the Hand : congenital abnormalities of the upper extremity This brief patient information leaflet on congenital abnormalities of the upper extremity is produced by the American Society for Surgery of the Hand (ASSH). It describes the causes of congenital abnormalities of the upper extremity and provides examples of congenital abnormalities of the hand and arm. Also discussed are the emotional feelings parents may experience if their newborn child is born with a congenital abnormality. Patient Education Handout [Publication Type] Infant, Newborn Hand Arm ... Assessment of screening strategies for Fragile X syndrome in the UK This review assesses the feasibility and acceptability of population screening strategies for Fragile X syndrome (FXS), an inherited form of learning disability that was defined in the late 1970s by cytogenetic detection of an associated fragile site on the X chromosome (Xq27.3). It concluded that programmes of systematic case- finding and cascade testing could achieve benefits for those women most at risk. Authored by Professor Marcus Pembrey et al, and published in March 2001, this review is made available on the Web by the National Coordinating Centre for Health Technology Assessment at the University of Southampton's Wessex Institute for Health Research and Development. The executive summary is available in HTML, and the full-text document is available in PDF, which requires Adobe Acrobat Reader. Review [Publication Type] Prenatal Diagnosis Mass Screening Fragile X Syndrome / diagnosis ... Birth Defects Foundation The Birth Defects Foundation (BDF) is a UK based charity that provides support for families, creates awareness and encourages prevention of birth defects, and funds vital medical research to improve child health. The Web site provides details of the foundation's work, information for prospective parents on ways to reduce risks of birth defects, and actions to take in checking for genetic risks. Access is provided to publications in PDF format requiring the Adobe Acrobat Reader. There is also information about current research and support services.

9. Fetal Oculocerebrorenal Syndrome Of Lowe Associated With Elevated Fetal oculocerebrorenal syndrome of Lowe associated with elevated maternal serum and amniotic fluid alphafetoprotein levels RC Miller http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

10. Oculocerebrorenal Syndrome oculocerebrorenal syndrome other Acidosis, Renal Tubular. UK Lowe syndrome trust http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

11. Kidney Resource Page oculocerebrorenal syndrome Presentations. Frequently asked questions foroculocerebrorenal syndrome add av folder (id av) http://links.nephron.com/diseases_categories/other_conditions/oculocerebrorenal_

Home Links Physicians RNS and Renal Administrators ... Translate TEXT SEARCH STRUCTURED SEARCHES PubMed MeSH Nucleotide Journals PMC Books OMIN PopSet Taxonomy DNA Sequences Protein Sequences 3D Structures Complete Genomes Books CancerChromosomes Conserved Domains 3D Domains Gene GENSAT GEO Profiles GEO DataSets HomoloGene NCBI Web Site NLM Catalog OMIM PubChem BioAssay PubChem Compound PubChem Substance SNP UniGene UniSTS for: All Subjects Free Text obesity hypertension dialysis diabetes kidney kidney disease glomerulonephritis kidney failure vascular calcification All Journals N England J Med Clin Nephrol Curr Opin Nephrol Hypertens J Am Soc Nephrol Proc Eur Dial Transplant Assoc Semin Nephrol Kidney Int Kidney Int Suppl Am J Kidney Dis Nephrol Dial Transplant Other Citematch Search by Citation - Hubmed works with EndNote and newsreaders CR mg/dL AGE yrs W B F M MDRD GFR: mL/min/ 1.73 m LINKS HOME CKD ANEMIA VASC CALC ... FEATURES Recent articles about Oculocerebrorenal Syndrome Long-term aspirin lowers colon cancer risk Obesity surgery lowers heart risk, US study shows

12. Arch Neurol Abstract Mitochondrial Defects In Lowe's Mitochondrial defects in Lowe's oculocerebrorenal syndrome. J. M. Gobernado, M. Lousa, A. Gimeno and M. Gonsalvez http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

13. Kidney Resource Page Statins in nephrotic syndrome A new weapon against tissue injury. Familialoculocerebrorenal syndrome Pseudohypoaldosteronism Tuberculosis, http://links.nephron.com/

Home Links Physicians RNS and Renal Administrators ... Translate TEXT SEARCH STRUCTURED SEARCHES PubMed MeSH Nucleotide Journals PMC Books OMIN PopSet Taxonomy DNA Sequences Protein Sequences 3D Structures Complete Genomes Books CancerChromosomes Conserved Domains 3D Domains Gene GENSAT GEO Profiles GEO DataSets HomoloGene NCBI Web Site NLM Catalog OMIM PubChem BioAssay PubChem Compound PubChem Substance SNP UniGene UniSTS for: All Subjects Free Text obesity hypertension dialysis diabetes kidney kidney disease glomerulonephritis kidney failure vascular calcification All Journals N England J Med Clin Nephrol Curr Opin Nephrol Hypertens J Am Soc Nephrol Proc Eur Dial Transplant Assoc Semin Nephrol Kidney Int Kidney Int Suppl Am J Kidney Dis Nephrol Dial Transplant Other Citematch Search by Citation - Hubmed works with EndNote and newsreaders CR mg/dL AGE yrs W B F M MDRD GFR: mL/min/ 1.73 m LINKS HOME CKD ANEMIA VASC CALC ... FEATURES ISSUES IN NEPHROLOGY Chronic Kidney Disease Anemia of Kidney Disease Vascular Calcification Cardiovascular Disease ... Blood Pressure: Management and Consequences KIDNEY DISEASES Syndromes and Reviews Acute Kidney Failure Albuminuria Chronic Kidney Disease Cystic Kidneys ... Transplantation Primary Glomerulonephritis IgA Nephropathy Membranous Nephropathy Membranoproliferative Glomerulonephritis Focal Sclerosing Glomerulonephritis ... Minimal Change Glomerulonephritis Secondary Nephritis Aids Nephropathy Amyloidosis Diabetic Nephropathy Hepatitis B and C ... Infectious Glomerulonephritis Interstitial Nephritis

14. AS3D Alternative Splicing In Oculocerebrorenal Syndrome Of Lowe OCRL oculocerebrorenal syndrome of Lowe. Links. LocusLink Ensembl AceView CGAP Snps3D Interactions dbSNP Google BioCarta Hugo http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

15. Oculocerebrorenal Syndrome Topic - Unified Search Environment oculocerebrorenal syndrome MSH/MH/D009800 MTH/PN/NOCODE CSP/PT/18491861 MTH/MM/ Lowe oculocerebrorenal syndrome MSH/EN/D009800 CSP/ET/1849-1861 http://www.use.hcn.com.au/portals/shared/subject.`Oculocerebrorenal Syndrome`/ho

Oculocerebrorenal Syndrome Topic Tree Definition: A sex-linked recessive disorder of amino acid transport which affects the EYE; NERVOUS SYSTEM; and KIDNEY. Clinical manifestations include CATARACT; GLAUCOMA; developmental delay (which eventually leads to profound cognitive deficits); myopathy; peripheral neuropathy; and hypotonia. There is an associated generalized aminoaciduria of the FANCONI SYNDROME type; renal tubular acidosis (ADIDOSIS, RENAL TUBULAR); and hypophosphatemic RICKETS. This condition has been associated with deficient activity of the enzyme phosphatidylinositol 4,5-bisphosphate-5-phosphatase. (Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8) Synonyms and Source Vocabularies: Oculocerebrorenal Syndrome Lowe Syndrome Cerebrooculorenal Syndrome Lowe Oculocerebrorenal Syndrome Oculocerebrorenal Dystrophy Lowe-Bickel Syndrome Lowe-Terrey-MacLachlan Syndrome Renal-Oculocerebrodystrophy Lowe Disease Cerebro-Oculo-Renal Syndrome Congenital Abnormality Abnormalities, Drug-Induced Abnormalities, Multiple Basal Cell Nevus Syndrome Beckwith-Wiedemann Syndrome Bloom Syndrome Cockayne Syndrome ... Rubella Syndrome, Congenital

16. Nonsense Mutations In The OCRL-1 Gene In Patients With The Nonsense mutations in the OCRL1 gene in patients with the oculocerebrorenal syndrome of Lowe http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

17. Oculocerebrorenal Syndrome Complete online version of The Encyclopaedia of Medical Imaging including textand images from The Encyclopaedia of Medical Imaging s eight book volumes http://www.amershamhealth.com/medcyclopaedia/medical/Volume VII/OCULOCEREBRORENA

financial services our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com Oculocerebrorenal syndrome, (also called Lowe's syndrome), hypotonia at birth with developmental delay. Delayed physical development, cataract and glaucoma, and renal tubular dysfunction are the main features. There is also hypophosphataemic rickets. Radiologically, the features are those of osteoporosis and rickets. For a general description, see Lowes syndrome HC The Encyclopaedia of Medical Imaging Volume VII Corporate Products Financial Services Our Commitment ... Terms of Conditions

18. Mumps Web Folders MH = oculocerebrorenal syndrome AQ = BL CF CI CL CO DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RA RH RI RT SU TH UR US VE VI http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

19. NEJM -- Clinical And Laboratory Findings In The Oculocerebrorenal Syndrome Of Lo The oculocerebrorenal syndrome of Lowe is an Xlinked disorder whose clinicalmanifestations Twenty-three patients with the oculocerebrorenal syndrome, http://content.nejm.org/cgi/content/abstract/324/19/1318

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Please sign in for full text and personal services Previous Volume 324:1318-1325 May 9, 1991 Number 19 Next Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function LR Charnas, I Bernardini, D Rader, JM Hoeg, and WA Gahl Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited ... PubMed Citation Abstract Source Information Unit on Neurogenetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892. This article has been cited by other articles: Moe, O. W., Bonny, O. (2005). Genetic Hypercalciuria. J Am Soc Nephrol [Abstract] [Full Text] Laube, G F, Russell-Eggitt, I M, van't Hoff, W G (2004). Early proximal tubular dysfunction in Lowe's syndrome. Arch. Dis. Child. [Abstract] [Full Text] Tricot, L., Yahiaoui, Y., Teixeira, L., Benabdallah, L., Rothschild, E., Juquel, J.-P., Satre, V., Grunfeld, J.-P., Chauveau, D. (2003). End-stage renal failure in Lowe syndrome. Nephrol Dial Transplant [Full Text] Gahl, W. A., Brantly, M., Kaiser-Kupfer, M. I., Iwata, F., Hazelwood, S., Shotelersuk, V., Duffy, L. F., Kuehl, E. M., Troendle, J., Bernardini, I. (1998). Genetic Defects and Clinical Characteristics of Patients with a Form of Oculocutaneous Albinism (Hermansky-Pudlak Syndrome).

20. OCRL CM041046, 230, TGGaTGT, Trp-Cys, Lowe oculocerebrorenal syndrome, 1. CM971085,278, aCAA-TAA, Gln-Term, Lowe oculocerebrorenal syndrome, 2 http://www.hgmd.cf.ac.uk/ac/ns/1/119461.html

OCRL Nucleotide substitutions (missense / nonsense) Accession Number Codon Nucleotide Amino acid Phenotype Reference TGGa-TGT Trp-Cys Lowe oculocerebrorenal syndrome aCAA-TAA Gln-Term Lowe oculocerebrorenal syndrome TGG-TAG Trp-Term Lowe oculocerebrorenal syndrome CGA-CCA Arg-Pro Lowe oculocerebrorenal syndrome tCGA-TGA Arg-Term Lowe oculocerebrorenal syndrome GGG-GAG Gly-Glu Lowe oculocerebrorenal syndrome GTC-GGC Val-Gly Lowe oculocerebrorenal syndrome cCAT-TAT His-Tyr Lowe oculocerebrorenal syndrome tCAA-TAA Gln-Term Lowe oculocerebrorenal syndrome gCAG-TAG Gln-Term Lowe oculocerebrorenal syndrome GGA-GAA Gly-Glu Lowe oculocerebrorenal syndrome gAAT-GAT Asn-Asp Lowe oculocerebrorenal syndrome GAC-GGC Asp-Gly Lowe oculocerebrorenal syndrome TTT-TCT Phe-Ser Lowe oculocerebrorenal syndrome TATa-TAG Tyr-Term Lowe oculocerebrorenal syndrome TGG-TAG Trp-Term Lowe oculocerebrorenal syndrome TGT-TAT Cys-Tyr Lowe oculocerebrorenal syndrome CGA-CAA Arg-Gln Lowe oculocerebrorenal syndrome cCGA-GGA Arg-Gly Lowe oculocerebrorenal syndrome cCGA-TGA Arg-Term Lowe oculocerebrorenal syndrome GTT-GAT Val-Asp Lowe oculocerebrorenal syndrome TAT-TGT Tyr-Cys Lowe oculocerebrorenal syndrome AGCg-AGG Ser-Arg Lowe oculocerebrorenal syndrome CAC-CGC His-Arg Lowe oculocerebrorenal syndrome CACa-CAG His-Gln Lowe oculocerebrorenal syndrome CCT-CTT Pro-Leu Lowe oculocerebrorenal syndrome GTT-GAT Val-Asp Lowe oculocerebrorenal syndrome ATT-AGT Ile-Ser Lowe oculocerebrorenal syndrome tGAA-TAA Glu-Term Lowe oculocerebrorenal syndrome

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