61. Lowe, Syndrome : Sites Et Documents Francophones Translate this page Synonyme(s) oculo-cerebro-renal, syndrome. Arborescence(s) du thesaurus MeSHcontenant le mot-clé Lowe, syndrome oculocerebrorenal syndrome http://www.chu-rouen.fr/ssf/pathol/lowesyndrome.html

Lowe, Syndrome Menu général CISMeF Synonyme(s) oculo-cerebro-renal, syndrome Arborescence(s) Lowe, syndrome oculocerebrorenal syndrome maladies et malformations congénitales, héréditaires et néonatales maladies urologiques et appareil génital mâle métabolisme et nutrition, maladies système nerveux, maladies Position du mot-clé dans l' (les) arborescence(s) : Vous pouvez consulter toutes les ressources ou seulement les principales ou utiliser l' outil de recherche les recommandations les documents concernant l' enseignement les documents destinés aux patients 20 janvier 2003 courriel Menu général CISMeF Haut de page © CHU de Rouen . Toute utilisation partielle ou totale de ce document doit mentionner la source.

62. Sites Médicaux Francophones : Classement Par Mots Clés MeSH, Qualificatifs Et length; Lowe, syndrome oculocerebrorenal syndrome; ludothérapie http://www.chu-rouen.fr/ssf/santpathl.html

qualificatifs et types de ressources : L Menu général CISMeF A B C ... labiolecture [lipreading] laboratoire [laboratories] laboratoire dentaire [laboratories, dental] labyrinthe [labyrinth] labyrinthe, maladie [labyrinth diseases] labyrinthite [labyrinthitis] lactames [lactams] lactarium [milk banks] lactation [lactation] lactones [lactones] lait [milk] lait femme [milk, human] lambeau [surgical flaps] Lambert-Eaton, syndrome [Lambert-Eaton myasthenic syndrome] laminectomie [laminectomy] Landau-Kleffner, syndrome [Landau-Kleffner syndrome] langage [language] langage du corps [kinesics] langage enfant [child language] langage gestuel [sign language] Langer-Giedion, syndrome [Langer-Giedon syndrome] langue [tongue] langue, maladies [tongue diseases] Laos [Laos] laparoscope [laparoscopes] laparotomie [laparotomy] larme [tears] larva migrans ankylostomienne [larva migrans, visceral] laryngectomie [laryngectomy] laryngite [laryngitis] laryngoscope [laryngoscopes] laryngoscopie [laryngoscopy] larynx [larynx] larynx artificiel [larynx, artificial]

63. Delayed Development Disease; NiemannPick Disease (Classic Infantile and Juvenile); NoonanSyndrone; oculocerebrorenal syndrome (Lowe Syndrome); Oral-Facial http://www.rogerknapp.com/knap/eci.htm

roger knapp .com Established since 1997 Email a Serviceman Opinion Delayed Development Evaluating children for proper development is sometimes difficult since there is such a wide variety in the rate of different children. Check with your doctor or compare your child with others of the same age. If you have concerns then you should call this Early Childhood Intervention (ECI) line and have your child evaluated. It can't hurt. Satisfy yourself that your child is in the normal range. ECI is paid by the government and can give your child therapy if they are behind the normal range of development or have disabilities. They serve up to age three. ECI services for children: Screenings and assessments, including hearing and vision. Physical, occupational, speech and language therapy. Activities to develop learning and eating skills. assistive technology. moving on to school or other services as needed at age 3 or when graduating from the program. nutritional services. supporting child care or preschool teachers of enrolled children. ECI services for families: education and counseling.

64. Renal Glucosuria From Pediatrics / Nephrology be associated with tubular disorders such as Fanconi syndrome, cystinosis, Wilsondisease, hereditary tyrosinemia, or oculocerebrorenal syndrome (Lowe syndrome http://author.emedicine.com/ped/topic1991.htm

eMedicine Journal Pediatrics Nephrology Renal Glucosuria Synonyms, Key Words, and Related Terms: glucose in urine, renal glycosuria, Fanconi syndrome, cystinosis, Wilson disease, hereditary tyrosinemia, oculocerebrorenal syndrome, Lowe syndrome Author Information Introduction Clinical Differentials ... Bibliography AUTHOR INFORMATION Section 1 of 11 Authored by Leonard G Feld, MD, PhD , Chairman, Department of Pediatrics, Atlantic Health System, Professor, Department of Pediatrics, University of Medicine and Dentistry of New Jersey Leonard G Feld, MD, PhD, is a member of the following medical societies: American Academy of Pediatrics American College of Physician Executives American Diabetes Association American Heart Association ... Society for Experimental Biology and Medicine , and Society of Pediatric Research Edited by Laurence Finberg, MD , Clinical Professor, Department of Pediatrics, University of California at San Francisco and Stanford University; Robert Konop, PharmD , Clinical Assistant Professor, Department of Pharmacy, Section of Clinical Pharmacology, University of Minnesota; Luther Travis, MD

65. Fanconi Syndrome From Pediatrics / Nephrology An exception to this mode of inheritance is oculocerebrorenal syndrome,which is transmitted as an Xlinked recessive trait. In http://author.emedicine.com/PED/topic756.htm

eMedicine Journal Pediatrics Nephrology Fanconi Syndrome Synonyms, Key Words, and Related Terms: Fanconi's syndrome, Fanconi anemia, Fanconi's anemia, primary Fanconi syndrome, inherited Fanconi syndrome, secondary Fanconi syndrome, acquired Fanconi syndrome, idiopathic Fanconi syndrome, congenital aplastic anemia, congenital pancytopenia, nephrotic-glucosuric dwarfism with hypophosphatemic rickets, oculocerebrorenal syndrome, oculocerebrorenal syndrome of Lowe, Lowe syndrome, Lowe's syndrome, Lowe-Terrey-MacLachlan syndrome, vitamin D-dependent rickets, cystinosis, cystine storage disease, De Toni–Fanconi syndrome, Lignac-Fanconi syndrome, Wilson disease, Wilson’s disease, galactosemia, glycogen storage disease Author Information Introduction Clinical Differentials ... Bibliography AUTHOR INFORMATION Section 1 of 11 Authored by Adrian Spitzer, MD , Professor, Department of Pediatrics, Albert Einstein College of Medicine; Director of NIH Training Program, Children's Hospital at Montefiore Medical Center Adrian Spitzer, MD, is a member of the following medical societies:

66. RDInfo - Research And Development Information Details Of The Award bisphosphate, 5 phosphatase. Lowe's oculocerebrorenal syndrome is adisorder affecting the brain, eye and kidney. Research funds are http://www.rdinfo.org.uk/queries/ListGrantDetails.asp?GrantID=4032

67. 1Up Health > Health Links Directory > Conditions And Diseases: O Obesity (50) Obsessive Compulsive Disorder (64) Ochronosis (4) Ocular Migraine (9)Ocular Motility Disorders (8) oculocerebrorenal syndrome (5) ODD and CD (10 http://www.1uphealth.com/links/conditions-and-diseases-o.html

Home Contact Us Privacy Caring For Your Well Being Alternative Medicine Clinical Trials Health News Poisons ... Health Topics A-Z Search 1Up Health Health Directory Addictions Alternative Animal ... Weight Loss By Demography Child Health Teen Health Men's Health Women's Health ... Conditions and Diseases : O Description Browse by Alphabets A B C D ... Z Categories Obesity Obsessive Compulsive Disorder Ochronosis Ocular Migraine ... Otosclerosis Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Parts of the directory made available on 1UpHealth have been modified. External Web site links provided on this site are meant for convenience and for informational purposes only; they do not constitute an endorsement. Search: The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only they do not constitute endorsements of those other sites. Home Contact Us Privacy Links Directory

68. Neonatology On The Web: Inborn Errors Of Metabolism Galactosemia and Lowe's syndrome (oculocerebrorenal syndrome, an Xlinked recessivedisorder with congenital cataracts, proximal RTA, and mental retardation http://www.neonatology.org/syllabus/iem.03.html

Neo Home New Clinical Computers ... Links Inborn Errors of Metabolism: Algorithms for Evaluation william.wilcox@cshs.org Metabolic Acidosis Suspected IEM with Metabolic Acidosis, Diagnostic Flowchart The presence of metabolic acidosis is an important finding and the starting point for one of the two algorithms. If the anion gap is normal and associated with hyperchloremia, this suggests loss of bicarbonate either from the gastrointestinal tract or kidneys. The presence of renal tubular acidosis does not rule out an IEM, however. Galactosemia and Lowe's syndrome (oculocerebrorenal syndrome, an X-linked recessive disorder with congenital cataracts, proximal RTA, and mental retardation) as well as many other metabolic disorders which present later are associated with a RTA, usually a proximal RTA. RTA is often found with disorders of energy metabolism. Elevated anion gap acidosis can be divided into 3 categories depending on the presence of ketones and glucose level. Because the normal ketones (acetoacetic acid and 3-hydroxybutyrate) come from the oxidation of fatty acids, their absence associated with significant hypoglycemia can be suggestive of a fatty acid oxidation disorder. These disorders often present later in life with a Reye syndrome picture or "SIDS". The presence of ketones in the urine (may only be 1+) hypoglycemia suggests an organic aciduria or lactic acidosis. Hyperglycemia and ketonuria defines diabetes mellitus. Metabolic acidosis cannot be further differentiated without the results of the amino and organic acids. If these are normal (except for the changes found with lactic acidosis), then the lactate/pyruvate ratio and the glucose level will allow differentiation into 1) glycogen storage disease, gluconeogenesis disorders, or endocrine causes; 2) disorders of pyruvate metabolism; or 3) defects in mitochondrial energy metabolism.

69. Dorlands Medical Dictionary lens. aminoaciduria cataract, capsular thickening occurring in aminoaciduria,homocystinuria, and oculocerebrorenal syndrome. atopic http://www.mercksource.com/pp/us/cns/cns_hl_dorlands.jspzQzpgzEzzSzppdocszSzuszS

70. Membraan Transportsystemen 3 Fanconi Renotubular syndrome II. The oculocerebrorenal syndromeof Lowe 1 Lowe Syndrome (OCRL). Mendelian Hypophosphatemias http://www.homepages.hetnet.nl/~b1beukema/ziekmembraan.html

Membraan transportsystemen Congenitale selectieve Na D -Glucose Cotransport Defecten Glucose-Galactose Malabsorption Renal Glycosuria Transportdefecten van aminozuren over de celmembraan Cystinurie ( Type I) (CSNU) Cystinurie (Type II) (CSNU 2) Cystinurie (Type III) (CSNU 3) 2 Ziekte van Hartnup Lysinurische eiwit intolerantie ( LPI of Dibasicaminoaciduria II ) Iminoglycinuria : Familial Iminoglycinuria Renal Tubular Acidosis : (RTA) : Classical hypokalemic distal renal tubular acidosis (Type I RTA) Proximal renal tubular acidosis (Type II RTA) Renal tubular acidosis Type III The renal Fanconi Syndrome : Fanconi Renotubular Syndrome Fanconi Renotubular Syndrome I Fanconi Renotubular syndrome II The Oculocerebrorenal Syndrome of Lowe : Lowe Syndrome (OCRL) Mendelian Hypophosphatemias : Hereditary hypophosphatemia with hypercalciuria (HHRH) ( Type I ) Hypophosphatemic bone disease (HBD) ( Type II ) X-Linked Hypophosphatemia ( XLH ) ( Type III ) Autosomal dominant vitamin D resistant rickets ( not HBD ) ( Type IV ) Autosomal recessive hypophosphatemic rickets ( Type V ) Hereditary Renal Hypouricemia Hereditary Renal Hypouricemia Lysosomale transport stoornissen : Cystinosis and Sialic Acid Storage Disorders : Infantiele cystinose Juveniele cystinose volwassen cystinose Salla Disease ... Infantile Free Sialic Acid Storage Disease ( ISSD ) Other disorders of Lysosomal Membrane Transport :

71. Inherited Disease Genes Identified By Positional Cloning Long QT Syndrome, LQT1, 1996, U40990, 192500, 3, 10.1%, 0, 0.0%. Loweoculocerebrorenal syndrome, OCRL, 1992, M88162, 309000, 1, 1.2%, 1,12.2%. Machado http://www.ndsu.nodak.edu/instruct/mcclean/plsc431/homework/positional-cloning/

Inherited Disease Genes Identified by Positional Cloning Course Homepage Course Topics Course Homework The table below was compiled by the staff of the National Center for Biotechnology Information. This list contains many of the early genes that were cloned by positional cloning. Many additional genes have also been discovered using this technique. I would like to the thank the staff of NCBI, in particular Tyra Wolfsberg and John Pearson, for making this site available. Low-Complexity Segments Possible Non-Globular Regions Disease Gene Symbol Year Accession Number OMIM Number Number Percent Number Percent Aarskog-Scott Syndrome Achondroplasia FGFLR Adenomatous Polyposis Coli APC Adrenoleukodystrophy, X-linked ALD Agammaglobulinemia, X-linked BTK Alagille Syndrome AGS Alzheimer Disease (Chromosome 14) Alzheimer Disease (Chromosome 1) Amyotrophic Lateral Sclerosis Angelman Syndrome AS Anhidrotic Ectodermal Dysplasia EDA Aniridia Ataxia Telangiectasia ATM Barth Syndrome BTHS Basal Cell Nevus Syndrome BCNS Best Macular Dystrophy BMD Bloom Syndrome BLM Breast Cancer, Type 1

72. Krankheit: Hereditäre Tubuläre Nierenerkrankungen Translate this page Tyrosinemia, 276700, Heriditary hypophosphatemic rickets, 241530, HHRH. X-linkedhypophosphatemic rickets, 307800, HYP. oculocerebrorenal syndrome of Lowe, 309000,OCRL. http://www.moldiag.de/krankheiten/tubular.htm

A - L M - T U - Z Hyperurie von Kohlenhydraten Erkrankung molekulargenetische Untersuchung OMIM Gen Synonyme renale Glucosurie solute carrier family 5 member 2; renal glucosuria (GLYS1); sodium-glucose cotransporter; sodium-glucose transporter 2 (SGLT2); kidney low affinity sodium glucose cotransporter Pentosurie L-xylulosuria; xylitol dehydrogenase deficiency Monosacharid Malabsorption solute carrier family 5 member 1; sodium-glucose transporter 1 (SGLT1); intestinal sodium-glucose cotransporter; hight affinity sodium glucose cotransporter (NAGT); glucose/galactose malabsorption (GGM); monosacharide malabsorption (GM); Erkrankung molekulargenetische Untersuchung OMIM Gen Synonyme Erkrankung molekulargenetische Untersuchung OMIM Gen Synonyme LPI lysinuric protein intolerance; dibasic aminoaciduria II; Cystinurie Cystinurie Typ I; cystinuria type 1 (CSNU1); amino acid transporter 1 (ATR1); D2H; RBAT; CSNU

73. Zeal.com - United States - New - Personal - Health - Conditions & Illnesses - Co Talus@; Ochronosis@; oculocerebrorenal syndrome@; Oculomotor N Paralysis@;OIS@; Oldfield Syndrome@; Ollier's Disease@; Onchocerciasis@; Onychomycosis http://www.zeal.com/category/preview.jhtml?cid=273818

74. Distribution Of 27 Blast Hits On The Query Sequence 76267 gi 1332523 emb Z73496.1 HSU120E2 Human DNA sequence from cosmid cU120E2,on chromosome X contains Lowe oculocerebrorenal syndrome (OCRL) ESTs and STS http://mycor.nancy.inra.fr/poplardb/BlastN/F02D08.blastn.html

Query= F02D08 (314 letters) Database: nt 754,565 sequences; 2,694,110,563 total letters If you have any problems or questions with the results of this search please refer to the BLAST FAQs Taxonomy reports Distribution of 27 Blast Hits on the Query Sequence Score E Sequences producing significant alignments: (bits) Value Homo sapiens hypothetical prot... Streptococcus pneumoniae ... Human DNA sequence from... Novel human gene mappin... Homo sapiens mRNA for KI... Mus musculus chromosome ... Homo sapiens chromosome ... Homo sapiens chromosome ... Arabidopsis thaliana chro... Arabidopsis thaliana ABA-... Arabidopsis thaliana DNA... Homo sapiens chromosome ... Homo sapiens membrane-bo... Homo sapiens BAC clone RP... Homo sapiens chromosome 5... Homo sapiens chromosome 5... Mus musculus chromosome u... Homo sapiens PAC clone RP... Homo sapiens BAC clone RP... Human DNA sequence fro... Homo sapiens chromosome 1...

75. C. Elegans sclerosis (ALS), Duchenne muscular dystrophy, dominant myotonia congenita, KleinWaardenburg syndrome, Lowe oculocerebrorenal syndrome, neurofibromatosis type http://www.cbse.ucsc.edu/packard.html

Bioinformatic and Microarray Expression Analysis of Nervous System Function Index Introduction Research Plan Summary References INTRODUCTION Among several biological systems compatible with genomic technologies, the tiny nematode worm, Caenorhabditis elegans , has emerged as a leading model system. It is the first animal whose genome has been completely sequenced , and more importantly, examination of the C. elegans genome has revealed a dramatic similarity between many of its genes and human genes, including genes involved in cellular differentiation and development, and in particular, the development and function of the nervous system. The C. elegans nervous system contains just over 300 neurons that make about 7000 connections with each other. Most importantly, the developmental origin of each worm neuron is known . This detailed neural model has proved invaluable in understanding human and other vertebrate nervous systems. The University of California, Santa Cruz proposes an interdisciplinary research effort among scientists in Computer Science, Computer Engineering, Applied Mathematics and Statistics, Chemistry and Biochemistry, and Biology to use expression arrays (gene chips) and computational analysis of gene sequences and expression patterns to find and classify all genes important for nervous system development and function in the worm. This project could not be carried out without the individual contributions of the participating biologists, chemists, mathematicians, and computer scientists and engineers. By identifying and analyzing the proteins encoded by these genes in

76. Untitled Lowe's Syndrome (oculocerebrorenal syndrome) is a condition associatedwith cataracts, mental retardation and kidney disease. Alport's http://www.ofcn.org/cyber.serv/hwp/hwc/eye/news/eye023.html

From: anonymous@freenet.columbus.oh.us Subject: Retina Damage Posted-By: xx102 (Eye Clinic Moderator) Organization: Organization For Community Networks Date: Thu, 22 Sep 1994 02:45:04 GMT Newsgroups: ofcn.clinic.eye-doctor I was recently informed that retina damage can result from kidney problems even when there exist no other perceived symptomatology. If this is indeed true, is it possible that the damage can be the result of some transient kidney condition? If the kidney difficulty is sufficient to cause damage to the retina, what damage might be expected to other organ systems? Answered by Richard E. Gans, M. D. (xx102@ofcn.org) In order to answer your question, more specific information would be helpful. In general, retina problems can result from transient or chronic kidney disease. Most of the retina damage comes from HIGH BLOOD PRESSURE that often accompanies a kidney condition. The high blood pressure can damage other organ systems. As the kidney condition resolves, the retina problem often improves. Rarely, retinal detachment can result from severe kidney conditions. This is not the typical type of retinal detachment that requires surgery. It is due to leakage of fluid from blood vessels deep inside the eye. Correcting the underlying kidney condition can lead to spontaneous reattachment of the retina.

77. Directory :: Look.com Obesity (37) Obsessive Compulsive Disorder (64) Ochronosis (4) Ocular Migraine (9)Ocular Motility Disorders (8) oculocerebrorenal syndrome (5) Oligohydramnios http://www.look.com/searchroute/directorysearch.asp?p=43357

78. Neurogate.com Neurosurgery Search Engine And Neurosurgery Custom Medline Searchi Hydrocephalus Nucleus Accumbens - Nystagmus - Obturator Nerve - Occipital Lobe- Ocular Motility Disorders - oculocerebrorenal syndrome - Oculomotor Nerve http://www.neurogate.com/neuro/index2.html

Global Search Add Url Free Medline Contact Us ... Conferences Bookmark this page for your Future Medline/Internet Searches Try the Medline Search Designed for Neurosurgery With FAST results Neurosurgery Internet Search Medline Search Designed for Neurosurgery Enter Keyword to search help Or And Match entire phrase Enter Keyword to search help Categories Premier Neurosurgery Sites General Neurosurgery (MESH 1998 © NLM) Abducens Nerve Abetalipoproteinemia Abnormal Reflex ... Metabolic Brain Diseases General Neurosurgery (MESH 1998 © NLM) Metachromatic Leukodystrophy Microglia Middle Hypothalamus ... Neurogate.com

79. American Academy Of Pediatric Dentistry - Search Articles / Publications Title Dental findings in Lowe syndrome. Abstract This paper presents thedental findings of a child with the oculocerebrorenal syndrome of Lowe. http://www.aapd.org/searcharticles/article.asp?ARTICLE_ID=294

80. GS OMIM) LEIOMYOMATOSIS, ESOPHAGEAL AND VULVAL, WITH NEPHROPATHY(OMIM) LOWE oculocerebrorenal syndrome; OCRL(OMIM http://nigiwai.net/gs1/omim10.htm

GeneticSupportƒgƒbƒvƒy[ƒW‚Ö @WEAVER SYNDROMEi j @WEILL-MARCHESANI SYNDROMEi j @WEISSENBACHER-ZWEYMULLER SYNDROME; WZSi j @WERNICKE-KORSAKOFF SYNDROMEi j @WILSON DISEASEi j @WINCHESTER DISEASEi j @WOLFF MENTAL RETARDATION SYNDROMEi j @WOLMAN DISEASEi j @WOOLLY HAIR, HYPOTRICHOSIS, EVERTED LOWER LIP, AND OUTSTANDING EARSi j @WRINKLY SKIN SYNDROME; WSSi j @DE SANCTIS-CACCHIONE SYNDROMEi j @XX MALE SYNDROMEi j @YOUNG SYNDROMEi j @ZUNICH NEUROECTODERMAL SYNDROMEi j @DENT DISEASEi j @INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKEDi j @HETEROTOPIA, PERIVENTRICULARi j @MENTAL RETARDATION, X-LINKED 14; MRX14i j @MENTAL RETARDATION, X-LINKED, WITH CRANIOFACIAL DYSMORPHISMi j @LISSENCEPHALY, X-LINKEDi j @ANDROGEN INSENSITIVITY SYNDROME; AISi j @FETAL AKINESIA SYNDROME, X-LINKEDi j @IMMUNONEUROLOGIC DISORDER, X-LINKEDi j @ADRENOLEUKODYSTROPHY; ALDi j @COATS DISEASEi j @POLYMICROGYRIA, BILATERAL PERISYLVIANi j @SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1i

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