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Oculocerebrorenal Syndrome:     more detail

Lowe oculocerebrorenal syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Holly, MS Ishmael, 2005 Oculocerebrorenal Syndrome

lists with details

61. Lowe, Syndrome : Sites Et Documents Francophones
    Translate this page Synonyme(s) MeSH Oculo-cérébro-rénal, syndrome. Arborescence(s) du thesaurus MeSH contenant le mot-clé Lowe, syndrome oculocerebrorenal syndrome  
    http://www.chu-rouen.fr/ssf/pathol/lowesyndrome.html
    
    Extractions: 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 Ou consulter ci-dessous une sélection des principales ressources :

62. JGI Thaps V1.0 Annotation
    View. 134, 8.2%, gi 12644378 sp Q01968 OCRL_HUMAN Inositol polyphosphate 5phosphatase OCRL-1 (Lowe s oculocerebrorenal syndrome protein) Homo sapiens, View.  
    http://genome.jgi-psf.org/cgi-bin/proteinDemote.pl?db=thaps1&proteinId=110398

63. JGI Thaps V1.0 Annotation
    , Sequence, View FASTA Sequence. Comment, () (M88162) Lowe oculocerebrorenal syndrome protein Homo sapiens Homo sapiens, 66.1% id. Best Hits,  
    http://genome.jgi-psf.org/cgi-bin/proteinDemote.pl?db=thaps1&proteinId=107374

64. Brusa-Torricelli Syndrome (www.whonamedit.com)
    tumour syndrome AniridiaWilms tumor association Miller’s syndrome (RW Miller) Synonyms Aniridia-nephroblastoma syndrome, oculocerebrorenal syndrome.  
    http://www.whonamedit.com/synd.cfm/2404.html
    
    Extractions: This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. A congenital syndrome in which aniridia (congenital absence of the iris) and nephroblastoma (Wilms' tumour) is associated with mental retardation, craniofacial defects (microcephaly), growth retardation and skeletal anomalies, deformed pinna, genitourinary anomalies, hamartomas, and umbilical and inguinal hernias. Other frequent features include cataract and glycoma, hypospadias, hemihypertrophy, and horseshoe kidney. The syndrome affects both sexes but is more frequent in males.

65. Apelin; Peptide Ligand For APJ Receptor
    on chromosome Xq2526.3. Contains the OCRL1 gene for Lowe oculocerebrorenal syndrome protein OCRL-1. Contains ESTs, STSs and GSSs,  
    http://telethon.bio.unipd.it/GETProfiles/Retina/ESTs/Hs.181060.html
    
    Extractions: H. sapiens PID:g3171882 100 % / 820 aa M. musculus PID:g2766529 - inositol polyphosphate 5-phosphatase II 49 % / 725 aa R. norvegicus PID:g2708493 - synaptojanin II 37 % / 353 aa D. melanogaster PID:g2749755 - /prediction=(method: 34 % / 674 aa C. elegans PID:g3874363 - Similarirty to Human 75 KD inositol-1,4, 5-triphosphate 5-phosphatase 32 % / 626 aa S. cerevisiae PID:e239927 - ORF YNL106c 36 % / 321 aa Homo sapiens DNA sequence from PAC 454M7 on chromosome Xq25-26.3. Contains the OCRL1 gene for Lowe Oculocerebrorenal Syndrome protein OCRL-1. Contains ESTs, STSs and GSSs Homo sapiens DNA sequence from PAC 454M7 on chromosome Xq25-26.3. Contains the OCRL1 gene for Lowe Oculocerebrorenal Syndrome protein OCRL-1. Contains ESTs, STSs and GSSs

66. GASNet Anesthesiology: Contents M - R
    Nyhan. Lesch Nyhan Syndrome. Oculocerebrorenal. Lowe Syndrome (oculocerebrorenal syndrome). Opitz. Smith - Lemli - Opitz Syndrome. Optic Neuropathy.  
    http://www.gasnet.org/pediatric-syndromes/m2r_br.php
    
    Extractions: Contents M - R - pediatric syndromes - Mandibular Dysostosis Treacher - Collins Syndrome (Mandibulofacial Dysostosis) Maple Syrup Maple Syrup Urine Disease (Branched Chain Ketonuria) Marble Bone Disease Albers - Schönberg Disease (Osteopetrosis, Marble Bone Disease) Marfan Marfan's Syndrome Marie Charcot - Marie - Tooth Disease Maroteaux Maroteaux - Lamy Disease McArdle McArdle Disease (Type V Glycogen Storage Disease) McCune McCune - Albright Syndrome Meckel Meckel's Syndrome MEN - Type II Sipple's Syndrome (MEN - type II) Menkes Menkes' Syndrome Merritt Kasabach - Merritt Syndrome Mikity Wilson - Mikity Syndrome Miller Miller's Syndrome Möbius Möbius Syndrome Moon Lawrence - Moon - Biedl Syndrome Morquio Morquio Syndrome (Mucopolysaccharidosis Type IV) Moschkowitz Moschkowitz Disease (Thrombotic Thrombocytopenic Purpura) Moss Gorlin - Chaudhry - Moss Syndrome Mucopolysaccharidosis Type I Hurler Syndrome (Mucopolysaccharidosis Type I) Mucopolysaccharidosis Type II Hunter's Syndrome (Mucopolysaccharidosis Type II) Mucopolysaccharidosis Type III Sanfilippo Syndrome (Mucopolysaccharidosis Type III) Mucopolysaccharidosis Type IV Morquio Syndrome (Mucopolysaccharidosis Type IV) Mucopolysaccharidosis Type V Scheie Disease (Mucopolysaccharidosis Type V) Myasthenia Gravis Myasthenia Gravis Myositis Myositis Ossificans (Fybrodysplasia Ossificans) Myotonia Myotonic Dystrophy (Steinert's Disease) Necrolysis Lyell Disease (Toxic Epidermal Necrolysis) Neonatal Ectopia Cordis Neonatal Ectopia Cordis Neurofibromatosis Neurofibromatosis (von Recklinghausen Syndrome) Nielsen

67. Disease - Fanconi´s Syndrome - Hartford, Connecticut , Saint Francis Care
    Lowe´s disease (oculocerebrorenal syndrome), a rare genetic disorder of the eyes, brain, and kidneys, can also cause Fanconi´s syndrome.  
    http://www.saintfranciscare.com/12161.cfm
    
    Extractions: Back Back to main Health Information page Kidney anatomy Definition: Some compounds that may be lost in the urine include glucose, amino acids, uric acid, and phosphate. Loss of these compounds can cause problems, such as growth failure, decreased bone mineralization (rickets), and abnormal bone mineralization (osteomalacia). Type two renal tubular acidosis (RTA) occurs when too much bicarbonate is excreted in the urine, causing excess acid in the blood (acidosis). Another problem that may result is dehydration caused by excess urination. Alternative Names: De Toni-Fanconi syndrome Causes And Risk: The kidneys can also be damaged by prescribed drugs such as cidofovir (used to treat AIDS-related cytomegalovirus disease), gentamicin, tetracycline used after its expiration date, and azathioprine (used to suppress the immune system after organ transplantation, or to treat certain autoimmune disorders). Symptoms: Excess amounts of the following substances in the urine: amino acids, glucose, phosphate, magnesium, potassium, bicarbonate, and sodium.

68. Floppy Infant Syndrome
    CNS diseases, atonic diplegia, congenital cerebellar ataxia, kernicterus, chromosomal defects, oculocerebrorenal syndrome, cerebral lipidoses, PraderWilli  
    http://www.5mcc.com/Assets/SUMMARY/TP0346.html
    
    Extractions: CNS diseases, atonic diplegia, congenital cerebellar ataxia, kernicterus, chromosomal defects, oculocerebrorenal syndrome, cerebral lipidoses, Prader-Willi syndrome, spinal cord diseases, spinal cord trauma, Werdnig-Hoffmann disease, peripheral nerve diseases, polyneuritis, familial dysautonomia, congenital sensory neuropathy, neuromuscular junction diseases, myasthenia gravis, infantile botulism, muscle diseases, congenital muscular dystrophy, myotonic dystrophy, glycogen storage disease of muscle and heart, central core disease, nemaline myopathy, mitochondrial myopathies

69. Genetic And Rare Diseases Information Center - Office Of Rare Diseases
    Oculocerebrocutaneous syndrome. oculocerebrorenal syndrome. Oculocutaneous albinism immunodeficiency. Oculocutaneous albinism type 1.  
    http://ord.aspensys.com/asp/diseases/diseases.asp?this=O

70. Oc : On Medical Dictionary Online
    Syndrome Oculocardiac Reflex Oculocerebrorenal Dystrophies Oculocerebrorenal Dystrophy oculocerebrorenal syndrome Oculocutaneous Albinism Oculomotor Muscle  
    http://www.online-medical-dictionary.org/?q=~Oc

71. Human Protein: Q01968 - Inositol Polyphosphate 5-phosphatase OCRL-1 (EC ) (Lowe'
    Human protein Q01968 Inositol polyphosphate 5-phosphatase OCRL-1 (EC ) (Lowe s oculocerebrorenal syndrome protein). OCRL oculocerebrorenal syndrome of Lowe.  
    http://harvester.embl.de/harvester/Q019/Q01968.htm
    
    Extractions: UniProt ensEMBL Entrez RZPD ... EBI-Hinxton-"Uniprot-Swissprot-TrEMBL" database General information Entry name Accession number Created Rel. 26, 1-JUL-1993 Sequence update Rel. 40, 16-OCT-2001 Annotation update Rel. 43, 29-MAR-2004 Description and origin of the Protein Description Inositol polyphosphate 5-phosphatase OCRL-1 (EC ) (Lowe's oculocerebrorenal syndrome protein). Gene name(s) OCRL OR OCRL1 OR INPP5F. Organism source Homo sapiens (Human). Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo. NCBI TaxID References Attree,O., Olivos,I.M., Okabe,I., Bailey,L.C., Nelson,D.L., Lewis,R.A., McInnes,R.R., Nussbaum,R.L.,

72. UNSW Embryology-OMIM Glaucoma List
    DEFECT AND SENSORINEURAL HEARING LOSS *603221 MYOPIA 3; MYP3 106220 ANIRIDIA AND ABSENT PATELLA *309000 LOWE oculocerebrorenal syndrome; OCRL *123580 CRYSTALLIN  
    http://anatomy.med.unsw.edu.au/cbl/embryo/OMIMfind/nerve/glaucomalist.htm

73. GEMdatabase - Browse Titles
    Lowe Syndrome This review focuses on the diagnosis, management, and genetic counseling of patients and families with Lowe oculocerebrorenal syndrome.  
    http://www.gemdatabase.org/GEMDatabase/BrowseTitles.asp?curpage=24

74. GEMdatabase - Selected Title
    DESCRIPTION This review focuses on the diagnosis, management, and genetic counseling of patients and families with Lowe oculocerebrorenal syndrome.  
    http://www.gemdatabase.org/GEMDatabase/TitleDetailsOne.asp?TitleID=929

75. Retina International's Scientific Newsletter - Syndrome Loci
    Lowe oculocerebrorenal syndrome, OCRL, 309000, OCRL1, xl, Xq2526. DXS100- DXS553, Inborn error of inositol phosphate metabolism.  
    http://www.retina-international.org/sci-news/syndrom.htm

76. Oculocerebrorenal Syndrome
    Prev Term ocular toxoplasmosis Next Term oculocerebrorenal syndrome of Lowe oculocerebrorenal syndrome. Used for Used for oculocerebrorenal syndrome of Lowe  
    http://crisp.cit.nih.gov/Thesaurus/00005770.htm

77. Syndrome
    Narrower Terms nephrotic syndrome Narrower Terms oculocerebrorenal syndrome Narrower Terms organic brain syndrome Narrower Terms polycystic ovary syndrome  
    http://crisp.cit.nih.gov/Thesaurus/00007863.htm
    
    Extractions: Next Term: Synechococcus Alstrom syndrome Bardet Biedel syndrome Brachmann de Lange syndrome Cornelia de Lange syndrome de Lange syndrome dumping syndrome Eaton Lambert syndrome Joubert syndrome Kenny Caffey syndrome Lambert Eaton myasthenic syndrome Lambert Eaton syndrome LEOPARD syndrome MLS (Multiple Lentigines /LEOPARD syndrome) Multiple Lentigines Multiple Lentigines /LEOPARD syndrome myasthenic syndrome of Lambert Eaton Peutz Jeghers syndrome postgastrectomy syndrome postpericardiotomy syndrome Rabson Mendenhall syndrome Saethre Chotzen syndrome van der Woude syndrome VDWS disease /disorder adult respiratory distress syndrome AIDS Alport syndrome antiphospholipid syndrome Barretts esophagus Bartter's syndrome Behcet's syndrome Bloom syndrome carpal tunnel syndrome cerebrohepatorenal syndrome Chediak Higashi syndrome chronic fatigue syndrome congenital adrenal hyperplasia Conn's syndrome cri du chat syndrome Cushing's syndrome deToni Fanconi syndrome DiGeorge's syndrome Downs syndrome Narrower Terms:

78. LSA, 9th International Conference On Lowe Syndrome
    congenital malformations, mental retardation, aminoaciduria, reduced ammonia production by the kidney, Lowe syndrome, oculocerebrorenal syndrome, Xlinked  
    http://mediconf.de/recstitl/20998402.HTM
    
    Extractions: MediConf World Calendar of Medical Events LSA, 9th International Conference on Lowe Syndrome human genetics, neurology, urology, pediatrics, nephrology, congenital malformations, mental retardation, aminoaciduria, reduced ammonia production by the kidney, Lowe syndrome, oculocerebrorenal syndrome, X-linked progressive inheritance, family life For details on this meeting and more meetings in the same field visit our Medical Specialty Calendar MediConf lists over 10000 future events including conferences, workshops, seminars, symposia and exhibitions in the fields of medicine, healthcare, pharmacology, and biotechnology. Every medical specialty is included, from allergy to zoonoses. MediConf is an excellent source of information for healthcare professionals and the pharmaceutical industry worldwide.

79. Entrez PubMed
    using as bait the peripheral Golgi phosphatidylinositol(4,5)P2 5phosphatase OCRL1 that is implicated in a human disease, the oculocerebrorenal syndrome.  
    http://arthritis-research.com/pubmed/9915833
    
    Extractions: Summary Brief Abstract Citation ASN.1 MEDLINE XML UI List LinkOut Related Articles Cited in Books CancerChrom Links Domain Links 3D Domain Links GEO DataSet Links Gene Links Genome Links GEO Links HomoloGene Links Nucleotide Links OMIM Links PMC Links Cited in PMC PopSet Links Protein Links SNP Links Structure Links UniSTS Links Show: Sort Author Journal Pub Date Text File Clipboard E-mail Order

80. GM98: Chr.X
    Also on G3 map, click for details, 306.65, P1.14, stSG1667, OCRL, oculocerebrorenal syndrome of Lowe. 306.65, , stSG44630, Homo sapiens full length insert cDNA clone..  
    http://www.ncbi.nih.gov/genemap/map.cgi?BIN=617&MAP=GB4

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