81. DBGET Result: OMIM 300535 MOLECULAR GENETICS LOWE oculocerebrorenal syndrome Bailey et al. He was ofshort stature. .0004 LOWE oculocerebrorenal syndrome OCRL, HIS601GLN In a http://www.genome.ad.jp/dbget-bin/www_bget?omim 300535

82. Topic And Category Listing oculocerebrorenal syndrome. oculocerebrorenal syndrome Ovarian HyperstimulationSyndrome. Ovarian Hyperstimulation Syndrome http://search.dartmouth-hitchcock.org/dhmc/servlet/submit?Pg=Topic&Tp=O&visit=1

83. Disease - Fanconi´s Syndrome - Hartford, Connecticut 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

@import url(main.css); About Us Health Information Health Focus Todays Breast Health News ... Ways To Help Adam Article Manager 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.

84. Lowe Sendromlu Bir Olgunun Davranýþ Fenotipine Yaklaþým; Seven Ve Ark. The Lowe syndrome or oculocerebrorenal syndrome is a rare X linked recessive Mapping the Lowe oculocerebrorenal syndrome to Xq24q26 by use of 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.

85. SuperArray - Focused Microarray, PCR, SiRNA And Gene Function Assay And More OCRL, INPP5F/LOCR, Human, oculocerebrorenal syndrome of Lowe, RealTime PCR PrimerSet (1). Ocrl, Ocrl, Rat, oculocerebrorenal syndrome of Lowe http://www.superarray.com/sbrowse.php?top=O&second=C

86. Biochem. J. (1996) 320, 181-186 - D. Communi And C. Erneux - Identification Of A NEM, Nethylmaleimide; Ni-NTA, nickel nitrilotriacetic acid; OCRL protein,protein deficient in Lowe s oculocerebrorenal syndrome. http://www.biochemj.org/bj/320/0181/bj3200181.htm

About the journal Subscriptions Authors Users ... Download to Citation Matcher Biochem. J. (1996) Identification of an active site cysteine residue in human type I Ins(1,4,5) P 5-phosphatase by chemical modification and site-directed mutagenesis David COMMUNI* and Christophe ERNEUX Institute of Interdisciplinary Research, Free University of Brussels, Campus Erasme, Bldg C, Route de Lennik 808, B-1070 Brussels, Belgium N -ethylmaleimide; Ni-NTA, nickel nitrilotriacetic acid; OCRL protein, protein deficient in Lowe's oculocerebrorenal syndrome. * To whom correspondence should be addressed. Chemical modification using thiol-directed agents and site-directed mutagenesis have been used to investigate the crucial role of an active site cysteine residue within the substrate-binding domain of human type I Ins(1,4,5) P 5-phosphatase. Irreversible inhibition of enzymic activity is provoked by chemical modification of the enzyme by N P . The results indicate that NEM binds at the active site of the enzyme with a stoichiometry of 0.9 mol of NEM per mol of enzyme. A single [ C]NEM-modified peptide was isolated after a -chymotrypsin proteolysis of the radiolabelled enzyme and reverse-phase HPLC. Sequence analysis of the active site-labelled peptide (i.e. MNTRCPAWCD) demonstrated that Cys

87. RDInfo - Research And Development Information Details Of The Award Lowe s oculocerebrorenal syndrome is a disorder affecting the brain, eye, kidneysand bones . Research funds are available for funding a research http://www.rdinfo.org.uk/Queries/ListGrantDetails.asp?GrantID=4032

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

89. Dorlands Medical Dictionary occurring in aminoaciduria, homocystinuria, and oculocerebrorenal syndrome . thickening occurring in heat cataracts and oculocerebrorenal syndrome. http://www.mercksource.com/pp/us/cns/cns_hl_dorlands.jspzQzpgzEzzSzppdocszSzuszS

90. Arch Neurol -- Abstract: Mitochondrial Defects In Lowe's Oculocerebrorenal Syndr Mitochondrial defects in Lowe s oculocerebrorenal syndrome. JM Gobernado, M.Lousa, A. Gimeno and M. Gonsalvez. We performed biochemical studies on isolated http://archneur.ama-assn.org/cgi/content/abstract/41/2/208

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 41 No. 2, February 1984 Featured Link E-mail Alerts ARTICLE Article Options Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Gobernado JM Gonsalvez M Contact me when this article is cited Mitochondrial defects in Lowe's oculocerebrorenal syndrome J. M. Gobernado, M. Lousa, A. Gimeno and M. Gonsalvez We performed biochemical studies on isolated mitochondria from a muscle biopsy specimen in a patient with Lowe's syndrome. Respiratory controls of mitochondrial preparations with substrates reducing nicotinamide adenine dinucleotide and with a flavoprotein-linked substrate were markedly diminished, but the oxygen consumption was normal with ascorbate and tetramethylphenylenediamine as substrates, which suggested a defect in

91. Biennial And Annual Report On The Rare Diseases Research Activities At The Natio The oculocerebrorenal syndrome of Lowe is a rare Xlinked metabolic disordercharacterized by congenital cataracts, renal tubular dysfunction, http://rarediseases.info.nih.gov/html/reports/Fy2004/nhgri.html

Biennial and Annual Report on the Rare Diseases Research Activities at the National Institutes of Health FY 2004 National Human Genome Research Institute (NHGRI) Overview of Rare Diseases Research Activities The National Human Genome Research Institute (NHGRI) led the National Institutes of Health’s (NIH) contribution to the International Human Genome Project (HGP). With the achievement of its final goal, the finished sequence of the human genome in April 2003, this project was successfully completed ahead of schedule and under budget and has already begun to change the way we address rare diseases. In October 2004, the International Human Genome Sequencing Consortium, led in the United States by the NHGRI and the Department of Energy, published an analysis of that finished human genome sequence in the journal Nature . This analysis reduces the estimate of the number of human protein-coding genes from 35,000 to only 20,000–25,000—a surprisingly low number for our species, considering that only a decade ago most scientists thought we had over 100,000 genes. The NHGRI has moved forward into the genomic era with a wide range of powerful new extramural research initiatives that will accelerate genome research and its application to human health. As well, in its Division of Intramural Research (DIR) scientists are using the techniques and tools produced by the HGP and developing new ones to study the fundamental mechanisms of inherited and acquired genetic disorders, including many rare disorders, to lead ultimately to improved diagnostic, prevention, and treatment strategies.

92. The Protein Deficient In Lowe Syndrome Is A Phosphatidylinositol-4,5-bisphosphat Lowe syndrome, also known as oculocerebrorenal syndrome, The Lowe soculocerebrorenal syndrome gene encodes a protein highly homologous to inositol http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=41805

93. The Deficiency Of PIP2 5-Phosphatase In Lowe Syndrome Affects Actin Polymerizati The oculocerebrorenal syndrome of Lowe (OCRL MIM 309000) is a rare Xlinkeddisorder caused by the deficiency of a PIP2 5-phosphatase, ocrl1 (Suchy et al. http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=378584

94. Lowe Syndrome Protein OCRL1 Interacts With Clathrin And Regulates Protein Traffi oculocerebrorenal syndrome of Lowe is caused by mutation of OCRL1, a phosphatidylinositol4,5bisphosphate 5-phosphatase localized at the Golgi apparatus. http://www.molbiolcell.org/cgi/content/abstract/16/8/3467

QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Originally published as MBC in Press, 10.1091/mbc.E05-02-0120 on May 25, 2005 Vol. 16, Issue 8, 3467-3479, August 2005 This Article Full Text Full Text (PDF) Supplemental Figures All Versions of this Article: most recent Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager ... Cited by other online articles PubMed PubMed Citation Articles by Choudhury, R. Articles by Lowe, M. Lowe Syndrome Protein OCRL1 Interacts with Clathrin and Regulates Protein Trafficking between Endosomes and the Trans -Golgi Network Rawshan Choudhury Aipo Diao Fang Zhang Evan Eisenberg Agnes Saint-Pol Catrin Williams Athanasios Konstantakopoulos John Lucocq Ludger Johannes Catherine Rabouille Lois E. Greene , and Martin Lowe Faculty of Life Sciences, University of Manchester, Manchester M13 9PT, United Kingdom; Laboratory of Cell Biology, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892;

95. CDNA Cloning And Localization Of OCRL-1 In Rabbit Kidney -- Erb Et Al. 273 (5): The oculocerebrorenal syndrome of Lowe (OCRL) is a hereditary multisystem The Lowe s oculocerebrorenal syndrome gene encodes a protein highly homologous http://ajprenal.physiology.org/cgi/content/full/273/5/F790

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Am J Physiol Renal Physiol This Article Abstract Full Text (PDF) Alert me when this article is cited ... Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Erb, B. C. Articles by Reilly, R. F. Vol. 273, Issue 5, F790-F795, November 1997 cDNA cloning and localization of OCRL-1 in rabbit kidney Brian C. Erb, Monique Gisser, Christine A. Shugrue, and Robert F. Reilly Department of Medicine, Yale University School of Medicine, New Haven 06520-8047; and Department of Veterans Affairs Medical Center, West Haven, Connecticut 06516 ABSTRACT Top Abstract Introduction Results Discussion References The oculocerebrorenal syndrome of Lowe (OCRL) is a hereditary multisystem disorder characterized by congenital cataracts, mental retardation, renal tubular dysfunction, and progressive

96. EMedicine - Oculocerebrorenal Dystrophy (Lowe Syndrome) : Article By Melissa Was oculocerebrorenal Dystrophy (Lowe syndrome) In 1952, Lowe and colleaguesdescribed an infant with congenital cataracts and mental retardation. http://www.emedicine.com/ped/topic1329.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Oculocerebrorenal Dystrophy (Lowe Syndrome) Last Updated: September 15, 2004 Rate this Article Email to a Colleague Synonyms and related keywords: Lowe's syndrome, oculocerebrorenal syndrome of Lowe, OCRL, renal Fanconi syndrome, congenital cataracts, neonatal or infantile hypotonia, mental retardation, mental impairment, renal tubular dysfunction, Lowe-Terrey-MacLachlan syndrome AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Melissa Wasserstein, MD , Assistant Professor, Departments of Human Genetics and Pediatrics, Mount Sinai School of Medicine Melissa Wasserstein, MD, is a member of the following medical societies: American Society of Human Genetics Editor(s): Ian Krantz, MD

97. Mental Diseases (Leigh s syndrome , Necrotizing Encephalomyelopathy of Leigh s , SNE , LeighNecrotizing LoweBickel syndrome , oculocerebrorenal Dystrophy ) http://www.thirdaid.com/index/qfm/fuseaction/registrationStep3/catalog_id/10521/

98. Oculocerebrorenal Dystrophy (Lowe Syndrome) Article describes oculocerebrorenal dystrophy, also known as Lowe syndrome, itssymptoms, diagnosis, and treatment. http://rarediseases.about.com/od/rarediseaseso/a/071704.htm

var zLb=8; var zIoa1 = new Array('Elsewhere on the Web','Lowe Syndrome Association','http://www.lowesyndrome.org/index.html','UK Lowe Syndrome Trust','http://www.lowetrust.com/'); zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a70' About Rare / Orphan Diseases Rare Diseases I - L Rare Diseases: L Oculocerebrorenal Dystrophy (Lowe Syndrome) Rare Diseases Essentials Rare Diseases: Basic Information Rare Diseases Support Groups ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/6.htm','');w(xb+xb); FREE Newsletter Sign Up Now for the Rare / Orphan Diseases newsletter! See Online Courses Search Rare / Orphan Diseases Stay up to date! Compare Prices Email to a friend ... Print this page Elsewhere on the Web Lowe Syndrome Association UK Lowe Syndrome Trust Most Popular Muscular Dystrophy ALD and Lorenzo's Oil Progeria Syndromes Leprosy (Hansen's Disease) ... The Elephant Man What's Hot Charcot-Marie-Tooth Disease Peyronie's Disease Twin-to-Twin Transfusion Synd Autoimmune Kidney Disease ... Cri-du-Chat Syndrome adunitCM(150,100,'x55') Oculocerebrorenal Dystrophy (Lowe Syndrome) From Mary Kugler Your Guide to Rare / Orphan Diseases FREE Newsletter.

99. Oculocerebrorenal Dystrophy (Lowe Syndrome) This inherited disorder is linked to the X (female) chromosome, so the majorityof individuals affected by it are male. The syndrome consists of eye, http://rarediseases.about.com/b/a/099461.htm

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a70' About Rare / Orphan Diseases Rare Diseases Essentials ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/6.htm','');w(xb+xb); FREE Newsletter Sign Up Now for the Rare / Orphan Diseases newsletter! See Online Courses Search Rare / Orphan Diseases Oculocerebrorenal Dystrophy (Lowe Syndrome) Rare/Orphan Diseases Blog Main From Mary Kugler Your Guide to Rare / Orphan Diseases FREE Newsletter. Sign Up Now! July 17, 2004 Oculocerebrorenal Dystrophy (Lowe Syndrome) This inherited disorder is linked to the X (female) chromosome, so the majority of individuals affected by it are male. The syndrome consists of eye, muscle, and kidney disorders. Email a Friend Display Latest Headlines Read Archives Advertisement Most Popular Muscular Dystrophy ALD and Lorenzo's Oil Progeria Syndromes Leprosy (Hansen's Disease) ... The Elephant Man What's Hot Charcot-Marie-Tooth Disease Peyronie's Disease Twin-to-Twin Transfusion Synd Autoimmune Kidney Disease ... Cri-du-Chat Syndrome adunitCM(150,100,'x55') Topic Index Email to a Friend Our Story Be a Guide ... Patent Info.

100. Short Description Of Cell Lines. Pathology: Lowe Oculocerebrorenal Syndrome *309 Version 4.200205. Short description of cell lines. Pathology Lowe oculocerebrorenalsyndrome *309000 OMIM record. By selecting the cell line name, http://www.biotech.ist.unige.it/cldb/pat110.html

Version Short description of cell lines. Pathology: Lowe oculocerebrorenal syndrome OMIM record By selecting the cell line name , you will receive the detailed description of the cell line By selecting one of the terms between parentheses, you will receive the list of all relevant cell lines You can search any term of the list by using the 'Find' utility of your browser human, Caucasian skin, fibroblast GEIMM By Beatrice...

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