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         Oculocerebrorenal 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. Oculocerebrorenal Syndrome

81. Untitled
The oculocerebrorenal syndrome of Lowe is a rare Xlinked disorder characterizedby bilateral congenital cataracts, renal Fanconi syndrome and mental
http://www.faseb.org/genetics/ashg01/f130.htm

82. Search By Disease
92 Low density lipoprotein receptor (LDLR). 93 Lowe oculocerebrorenal syndrome(OCRL). 94 Lowe syndrome. 95 LPL deficiency. 96 Lpsassociated protein 4.
http://www.eddnal.com/directory/disease.php?letter=L&page=7

83. Syndrome DB - Table Of Contents
oculogenito-laryngeal syndrome oculocerebral hypopigmentation syndrome oculocerebrofacialsyndrome oculocerebrorenal (OCR) syndrome oculocerebrorenal (OCR
http://www.nlm.nih.gov/mesh/jablonski/syndrome_toc/toc_o.html
Multiple Congenital Anomaly/Mental Retardation Syndromes
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obesity-hypotonia syndrome
obesity-mental retardation-delayed puberty-macroorchidism-acanthosis nigricans-hyperinsulinemia syndrome

obesity-short stature-mental deficiency-hypogonadism-micropenis-finger contractures-cleft lip-palate syndrome

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Last updated: 20 November 2001

84. GASNet Anesthesiology: Contents M - R
Nyhan. Lesch Nyhan syndrome. oculocerebrorenal. Lowe syndrome (oculocerebrorenalsyndrome). Opitz. Smith - Lemli - Opitz syndrome. Optic Neuropathy.
http://gasnet.med.yale.edu/pediatric-syndromes/m2r_br.php
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

85. Lowe's Syndrome
(Charles Lowe, born 1921, American paediatrician), see oculocerebrorenalsyndrome HC The Encyclopaedia of Medical Imaging Volume VII.
http://www.amershamhealth.com/medcyclopaedia/Volume VII/LOWES SYNDROME.asp
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*For Medical Professionals only, registration required Lowe's syndrome, (Charles Lowe, born 1921, American paediatrician), see oculocerebrorenal syndrome
HC
The Encyclopaedia of Medical Imaging Volume VII
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86. Papers And Posters From 1998 AAPOS Meeting
15 children; Ocular Findings in RubinsteinTaybi syndrome; Oculocerebrorenalsyndrome of Lowe - Variation in phenotype; Results of
http://med-aapos.bu.edu/AAPOS/papspost99.html
Abstracts of all papers and posters presented at the 1999 AAPOS meeting at Toronto Ontario are archived here.
The following menu is a list of both the papers and the posters from this meeting. A more specific Search Engine is available and allows for searching for materials based on any part of the listings.
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You can send E-Mail to the AAPOS Web Server directly from here. Please send comments and suggestions. You may also attach electronic files to e-mail. Please send us feedback
Last Modified by Rick Blocker on 6-11-99 /aapos/rick.html

87. Congenital, Hereditary, And Neonatal Diseases And Abnormalities
Comprehensive list of links from Karolinska Institutet, Sweden.Category Health Nursing Specialties Neonatal...... A 3 week old girl Wang et al U of Pittsburgh. Oculocerebrorenalsyndrome (Lowe syndrome) The Int'l Lowe syndrome Association, Inc.
http://www.mic.ki.se/Diseases/c16.html
search help staff
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
(including Pediatrics)
Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Alphabetical List of Diseases

Search PubMed at NCBI/NLM

88. Error Page
newsgroup. question to Orphanet. DISEASE Lowe syndrome, Synonym(s) Lowe oculocerebrorenalsyndrome, CIM E72.0, MIM 309000, Sign(s) of the disease (30),
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=534

89. Lowe Syndrome Association
cerebrooculorenal dystrophy lowe bickel lowe terry machlachlan oculocerebrorenalsyndrome lowe's blind visually impaired visual impairment mailtoinfo
http://www.medhelp.org/amshc/amshc437.htm
Title: Hearts and Hands Description: Emotional, spiritual and educational support for persons with either rare or undiagnosed illnesses, and their families. Also has a registry for Loin Pain Hematuria Syndrome. Scope: Model Founded: Address: c/o Winoka Plummer
4115 Thomasville Rd.
Winston-Salem, North Carolina, 27107
United States Telephone: Email: nursenokie@aol.com Web Address: http://www.geocities.com/hotsprings/spa/2464/index.html This information has been generously provided by The American Self Help Clearinghouse and hosted by Med Help International . Please send corrections/updates to ed@selfhelpgroups.org
Updated: 02/2003

90. Holidaylectures.org - Genes And Gender, 1994 Lectures
disease genes. The research addresses two disorders the oculocerebrorenalsyndrome of Lowe (OCRL) and fragile X syndrome. The disease
http://www.hhmi.org/lectures/1994/speakers.htm
Home Genes and Gender Lecture Summaries Key Concepts Meet the Speakers Lecture FAQs BioInteractive Ask a Scientist Order Materials ... Technical Tips Lecture Archives: Genes and Gender Biological Clocks Infectious Diseases Cardiovascular Genetics ... HHMI Grants
Genes, Gender, and Genetic Disorders
The 1994 Holiday Lectures on Science
Shirley M. Tilghman, Ph.D., is Howard A. Prior Professor of the Life Sciences in the Department of Molecular Biology at Princeton University. She also serves as an adjunct professor of biochemistry at the University of Medicine and Dentistry of the New Jersey-Robert Wood Johnson Medical School. She graduated from Queen’s University in Ontario, Canada, spent two years teaching secondary school in Sierra Leone, and then attended Temple University, from which she received her doctorate in biochemistry. She did postdoctoral work at the National Institutes of Health and has worked at Temple and at the Institute for Cancer Research. Dr. Tilghman's current research involves an examination of a chromosomal region that encodes at least four imprinted genes:

91. Agenus.com Identified Genetic Disorders
Long QT syndrome, from the National Human Genome Research Institute. Lowe Oculocerebrorenalsyndrome, from the National Human Genome Research Institute.
http://www.agenus.com/ClassA/agdistests.cfm

92. Mutation In OCRL
mutation in OCRL1, an inositol polyphosphate 5-phosphataseresulting in disrupted transport of lysosomal hydrolases.
http://www-users.med.cornell.edu/~taryan/wwweb-docs/mutation_in_ocrl.htm
mutation in OCRL-1, an inositol polyphosphate 5-phosphatase resulting in disrupted transport of lysosomal hydrolases.

93. GM98: Chr.X
Also on G3 map, click for details, 306.65, P1.14, stSG1667, OCRL, oculocerebrorenalsyndrome of Lowe. 306.65, , stSG44630, Homo sapiens full length insert cDNA clone..
http://www.ncbi.nlm.nih.gov/genemap99/map.cgi?BIN=617&MAP=GB4

94. Nephron Links
Selected Renal MeSH 1997 links PubMed. These selected MeSH headings are URLSwhich link directly to the PubMed National Library of Medicine database.
http://www.nephron.com/meshlinks.html
Selected Renal MeSH 1997 links - PubMed
PubMed Restrictions on use.
back to Kidney Disease Links
MeSH HEADING Hematuria Hemoglobinuria Kidney Diseases
  • AIDS-Associated Nephropathy ... Note: The information obtained through this service, and the information which you receive through the Internet is only for general guideline purposes, and is not an ultimate source of information, nor something which you should rely on as a sole source for your medical care. All medical and therapeutic decisions must come from your health care provider. The authors, editors, producers, sponsors, and contributors shall have no liability, obligation or responsibility to any person or entity for any loss, damage, adverse consequence alleged to have happened directly or indirectly as a consequence of this material. PubMed Restrictions on use.

95. O Index
O Part I. OBESITY. OBSESSIVE COMPULSIVE DISORDERS. OBSTETRICS. OCULOCEREBRORENALSYNDROME. OLESTRA. OLIGOPHRENIAMICROPHTHALMOS. OLIGOSACCHARIDOSES. OLLIER DISEASE.
http://www.childhealthinfo.com/oindex.htm
ChildHealthInformation Center - The Online Database A B C D ... Z Please click on the "box below" to view the following topics.
O Part I
OBESITY OBSESSIVE COMPULSIVE DISORDERS OBSTETRICS OCULOCEREBRORENAL SYNDROME OLESTRA OLIGOPHRENIA-MICROPHTHALMOS OLIGOSACCHARIDOSES OLLIER DISEASE ONCOLOGY ONLY CHILDREN OPHELIA SYNDROME OPITZ SYNDROME OPITZ-BBBG COMPOUND SYNDROME OPSOCLONUS-MYOCLONUS SYNDROME ORGAN DONATION- TRANSPLANTATION ORGANIC ACIDEMIA ORGANIZATION ORTHODONTICS ORTHOPEDICS OSLER-WEBER-RENDU SYNDROME OSTEOGENESIS IMPERFECTA OSTEOPATHIC MEDICINE OSTEOPETROSIS OSTEOPOROSIS ... MoreInfo@ChildHealthInfo.com

96. O Listing Part 1
ObsessiveCompulsive Disorder Foundation, PO Box 70, Milford, CT 06460. OCULOCEREBRORENALSYNDROME. (See LOWE SNYDROME). OLIGOPHRENIA-MICROPHTHALMOS.
http://www.childhealthinfo.com/oindexlist1.htm
O Part I OBESITY (See NUTRITION and EATING DISORDERS) OBSESSIVE COMPULSIVE DISORDERS Obsessive Compulsive Disorder Foundation, P.O. Box 70, Milford, CT 06460 Obsessive Compulsive Anomymous, P.O. Box 215, New Hyde Park, NY 11040 Anxiety Society of America, 6000 Executive Blvd., Rockville, MD 20852 Books: Overcoming Overeating, This book tries to help people break the diet/binge vicious cycle and lose weight naturally. Getting Control, by Lee Baer, (Penguin Books) Helps patient know more about the disorder and how to fight it. Obsessive-Compulsive Disorder Foundation, PO Box 70, Milford, CT 06460 by Constance H. Foster (Dilligaf Publishing) Helps patient know more about the disorder and how to fight it. Obsessive-Compulsive Disorder Foundation, PO Box 70, Milford, CT 06460 OCULOCEREBRORENAL SYNDROME (See LOWE SNYDROME) OLIGOPHRENIA-MICROPHTHALMOS (See NORRIE DISEASE) OLIGOSACCHARIDOSES (See TAY-SACHS DISEASE) OLLIER DISEASE (See also GROWTH DISORDERS) P.O. Box 52616, Shaw AFB, SC 29152-1521 ONCOLOGY (See CANCER) ONLY CHILDREN My One and Only

97. Analysis Of Mental Retardation, X-linked 20
Analysis of Mental retardation, Xlinked 20, G2D Home. GO TO
http://www.bork.embl-heidelberg.de/g2d/exam_disease.pl?U4384

98. Analysis Of Mental Retardation, X-linked 15
Analysis of mental retardation, Xlinked 15, G2D Home. GO TO
http://www.bork.embl-heidelberg.de/g2d/exam_disease.pl?U4379

99. Searchalot Directory For O
Ocular Migraine (9); Ocular Motility Disorders (8); OculocerebrorenalSyndrome (5); Oligohydramnios (11); Olivopontocerebellar Atrophy
http://www.searchalot.com/Top/Health/ConditionsandDiseases/O/
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