81. Lowe Syndrome lowe syndrome (OculoCerebro-Renal Syndrome of Lowe, LS). lowe syndrome(LS)? http://www.amc.seoul.kr/~amcmg/menu4/sub5_Gen5041.htm

Lowe syndrome (Oculo-Cerebro-Renal Syndrome of Lowe, LS) Lowe syndrome(LS)Àº ³²ÀÚ¿¡°Ô ÀÌȯµÇ´Â ¾ÆÁÖ µå¹® À¯ÀüÁúȯÀ¸·Î Àμ¿¡ Áß¿äÇÑ ´ë»çÀå¾Ö·Î ÀÎÇØ ½Å¼Àû, Á¤½ÅÀû, ÀÇÇÐÀûÀÎ ¹®Á¦µéÀ» À¯¹ßÇÕ´Ï´Ù. 1952³â Charles Lowe¿Í ±×ÀÇ µ¿·áµé¿¡ ÀÇÇØ ¾Ë·ÁÁö°Ô µÇ¾úÀ¸¸ç, ´«°ú ³ú, ½ÅÀå µî ¼¼ ±â°ü¿¡ ÁÖ·Î ¿µÇâÀ» ¹ÌÄ£´ÙÇÏ¿© Oculo-cerebro-renal syndrome of Lowe(OCRL)¶ó°íµµ ºÎ¸¨´Ï´Ù. Lowe syndrome(LS)Àº X ¿°»ö¼ ¿­¼ºÀ¸·Î À¯ÀüµÇ¸ç, phosphatidylinositol 4, 5-biphosphate 5-phosphatase È¿¼Ò¸¦ codingÇÏ´Â À¯ÀüÀÚÀÇ °á¼ÕÀ¸·Î ÀÎÇØ ¹ßÇöµË´Ï´Ù. ÀÌ È¿¼Ò´Â °ñÁö¼(Golgi)¿¡¼­ Á¤»óÀûÀÎ ´ë»ç°úÁ¤¿¡ ÇʼöÀûÀÎ È¿¼ÒÀÔ´Ï´Ù. ÀÌ È¿¼Ò°¡ ºÎÁ·ÇÏ°Ô µÇ¸é °ñÁö¼¿¡ ÀÇÇØ Á¶ÀýµÇ´Â ¼¼Æ÷±â´ÉÀÌ ºñÁ¤»óÀûÀ¸·Î µÇ°í, ¹é³»Àå°ú ³ú¿Í ½ÅÀåÀÇ ÀÌ»ó µîÀ» Æ÷ÇÔÇÑ ¿©·¯ °¡Áö ¹ß´ÞÀå¾Ö¸¦ À¯¹ßÇÕ´Ï´Ù. LSÀÇ À¯ÀüÀÚ´Â X ¿°»ö¼ÀÇ q26.1 ¿¡ À§Ä¡Çϸç, LSÀÇ À¯ÀüÀÚÀÇ °áÇÔÀÌ ÀÖ´Â °æ¿ì ³²ÀÚ´Â ¸ðµÎ ȯÀÚ°¡ µÇ°í ¿©ÀÚ´Â º¸ÀÎÀÚ°¡ µË´Ï´Ù

82. Listings Of The World Health Conditions And Diseases Genetic Listings World Health Conditions and Diseases Genetic Disorders lowe syndrome.Listings World, Over 2 million websites from around the globe. http://listingsworld.com/Health/Conditions_and_Diseases/Genetic_Disorders/Lowe_S

83. Association Du Syndrome De Lowe Association du syndrome de lowe. Dernière Mise à jour le 14/04/02 http://www.multimania.com/asl

Association du syndrome de Lowe. Nombre de Visiteurs :

84. Lowe's Syndrome lowe's syndrome. Subject lowe's syndrome Title Living with lowe's syndrome Author(s) Journal Book Vol Date 1987 http://med-aapos.bu.edu/PediRef/lowe%27s_syndrome.html

Lowe's Syndrome Subject: Lowe's Syndrome Title: Living with Lowe's Syndrome Author(s): Journal: Book: Vol: Date: 1987 Page(s): Organization: Lowe's Syndrome Association, Inc. Address: 222 Lincoln Street City: West Lafayette State: IN Zip: 47906 Phone: (317) 743-3634 Type: Booklet Subject: Lowe's Syndrome Title: On the Beam Author(s): Journal: Book: Vol: Date: Page(s): Organization: Lowe's Syndrome Association, Inc. Address: 222 Lincoln Street City: West Lafayette State: IN Zip: 47906 Phone: (317) 743-3634 Type: Newsletter Subject: Lowe's Syndrome Title: Lowe's Syndrome Author(s): Journal: Book: Vol.: Date: 1992 Pages: Organization: National Organization for Rare Disorders, Inc. Address: P.O. Box 8923; 100 Route 37 City: New Fairfield State: CT Zip: 06812-1783 Phone: (203) 746-6518 Type: Fact sheets 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 3/10/95 Press This To Return Pedi Resource Home Page

85. Lowe's Syndrome lowe's syndrome. Subject lowe's syndrome Title Living with lowe's syndromeAuthor(s) Journal Book Vol Date 1987 Page(s) Organization http://med-aapos.bu.edu/PediRef/lowe's_syndrome.html

Lowe's Syndrome Subject: Lowe's Syndrome Title: Living with Lowe's Syndrome Author(s): Journal: Book: Vol: Date: 1987 Page(s): Organization: Lowe's Syndrome Association, Inc. Address: 222 Lincoln Street City: West Lafayette State: IN Zip: 47906 Phone: (317) 743-3634 Type: Booklet Subject: Lowe's Syndrome Title: On the Beam Author(s): Journal: Book: Vol: Date: Page(s): Organization: Lowe's Syndrome Association, Inc. Address: 222 Lincoln Street City: West Lafayette State: IN Zip: 47906 Phone: (317) 743-3634 Type: Newsletter Subject: Lowe's Syndrome Title: Lowe's Syndrome Author(s): Journal: Book: Vol.: Date: 1992 Pages: Organization: National Organization for Rare Disorders, Inc. Address: P.O. Box 8923; 100 Route 37 City: New Fairfield State: CT Zip: 06812-1783 Phone: (203) 746-6518 Type: Fact sheets 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 3/10/95 Press This To Return Pedi Resource Home Page

86. 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.

87. Lowe, Syndrome : Arborescences MeSH Translate this page lowe, syndrome. lowe, syndrome C10.228.140.163.100.640 page CISMeF du motclefMELAS, syndrome C10.228.140.163.100.535 page CISMeF du motclef http://www.chu-rouen.fr/navimesh/navilowesyndrome.html

Lowe, Syndrome : arborescences MeSH Menu général CISMeF Vous pouvez aussi consulter toutes les arborescences des mots clés utilisés dans CISMeF système nerveux, maladies système nerveux central, maladies encéphalopathies encéphalopathies métaboliques ... Lowe, syndrome 27 février 2003 courriel Menu général CISMeF Haut de page © CHU de Rouen . Toute utilisation partielle ou totale de ce document doit mentionner la source.

88. Lowe's Syndrome Medical Information on lowe's syndrome. For whom is this information intended? Website www.viscotland.org.uk. Medical Information on lowe's syndrome. http://www.ssc.mhie.ac.uk/eyeconds/Lowe's.htm

Medical Information on Lowe's Syndrome For whom is this information intended? The information contained in this document is intended for use primarily by parents, other members of the family and older children with visual impairment. The information will also be of use to interested health professionals, carers and teachers. The purpose of each information document The purpose of the information is to explain: The way the eyes and brain normally work to make 'vision' The reason why vision may become impaired by a specific condition The cause of the condition The effects of the condition on the child's vision How the condition is diagnosed What can be done to help This document is written with the minimum use of medical terms and jargon. It is impossible to avoid all medical terms but where we have used them we have attempted to explain them as clearly as we can. Although the information is intended to describe most aspects of the condition each child is different and there will always be exceptions to the rule. As far as we can determine these pages are true and accurate and have been written in good faith. Inevitably there will be some mistakes. We apologise for this. What this Information is not for?

89. Sensory Information Service lowe's syndrome. lowe's syndrome Also known as oculocerebro-renal (eye, brain,kidney) syndrome, this is a rare condition inherited from the mother. http://www.ssc.mhie.ac.uk/VPages/F5/V553.htm

Sensory Information Service Leber's Amaurosis Leber congenital amaurosis: is a condition sometimes classified cortical blindness or congenital absence of the rods and cones or a type of early onset retinitis pigmentosa. Most children with this condition are completely blind at birth. Associated conditions can be disorders of the brain and head size and other physical disorders. Generally the eyes look normal for the first two or three years but then have pigmentary changes. Pupil reactions can be sluggish and eye rubbing is common. Support group: PLAN Last Changed - 04/02/03 Cortical/cerebral blindness Related Links: VIS information on Leber's Amaurosis [SIS Main Index] [Scottish Sensory Centre Home Page] Scottish Sensory Centre University of Edinburgh Holyrood Road Edinburgh

90. Charity Glossary lowe's syndrome lowe's syndrome Association 29 Gleneagles Drive, Penwortham, Preston,Lancashire, PR1 0JT Tel 01772 745070 Language Disorders, lowe's syndrome. http://www.ivillage.co.uk/ivillageuk/tools/charity_gloss/0,10005,4-1206-L-,00.ht

var cimsCid = '165906'; var cimsUid = ''; you are here iVillage.co.uk ivillageuk tools charity glossary join free horoscopes quizzes search Beauty Computers Health Horoscopes the Internet iVillage UK Money News Parenting Pregnancy Relationships iVillage Channels choose... iVillage Home Beauty Computers Games Health Horoscopes Money Motoring Parenting Relationships Shopping In this Channel Special Features Top Ten Services Free Newsletters iVillage News more newsletters A B C ... W lowe's syndrome Lowe's Syndrome Association 29 Gleneagles Drive, Penwortham, Preston, Lancashire, PR1 0JT Tel: 01772 745070 Promotes the welfare, and aims to maximise the potential, of persons affected by Lowe's syndrome. Fosters support and communication among families affected by the syndrome. L Language Disorders Lowe's Syndrome Law and Justice Lupus Erythematosus ... Lymphangioma Around iVillage Reinvent Yourself The love test Get healthy Frugal food ... send to a friend Don't see the definition you're looking for? Send us an email , and we'll add it. advertisers rems = ""; document.write(rems);

91. Lowe's Syndrome lowe's syndrome,, Print this article, (Charles lowe, born 1921, Americanpaediatrician), (also called oculocerebral renal syndrome http://www.amershamhealth.com/medcyclopaedia/Volume IV 2/LOWES SYNDROME.asp

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required Lowe's syndrome, (Charles Lowe, born 1921, American paediatrician), (also called oculocerebral renal syndrome), initially recognized in 1952, by Lowe, Terry and McLahan who described the triad of congenital cataracts, mental retardation and generalized aminoaciduria. It is an X-linked recessive disorder, affecting males. The probable gene site is Xq24-36 and probable aetiopathogenesis is an inborn error of inositol phosphate metabolism. There have been approximately 150 reported cases. It affects males of Caucasian or Asian ancestry. Primary clinical manifestations include: congenital cataracts, cognitive impairment, and renal tubular dyfunction ( Fanconis syndrome ). Secondary clinical features include areflexia, hypotonia, glaucoma, corneal keloid, and noninflammatory joint swelling. The affected children are short in stature, likely due to renal disease. Deaths related to renal failure, dehydration, and recurrent infections have been reported. Characteristic lens opacities are seen in female carriers of the abnormal gene.

92. Lowe's Syndrome lowe's syndrome,, Print this article, (Charles lowe, born 1921, Americanpaediatrician), see oculocerebrorenal syndrome HC The Encyclopaedia http://www.amershamhealth.com/medcyclopaedia/Volume VII/LOWES SYNDROME.asp

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *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 Welcome to Medcyclopaedia. This site is open to a public audience, still we want to know a little more about our visitors. Please tick off the boxes that match your profile. Do you live in Europe? Yes No Are you a medical professional? Yes No This frame will disappear when submitted Legal Contact us Making Waves

93. Lowe's Syndrome - General Practice Notebook medical information from General Practice Notebook. lowe's syndrome.lowe's syndrome is an X linked condition in which there is a http://www.gpnotebook.co.uk/cache/-355467220.htm

Lowe's syndrome Lowe's syndrome is an X linked condition in which there is a Fanconi syndrome with decreased urinary ammonia, organic aciduria, and sometimes a heavy proteinuria. Click here for more information...

94. Lowe Syndrome Mutation Database http://www.nhgri.nih.gov/DIR/GDRB/Lowe/

Research @ NHGRI Online Research Resources Lowe Syndrome Mutation Database Lowe Syndrome Mutation Database Database of the OCRL1 Mutations Causing Lowe Syndrome 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. A database of mutations causing Lowe syndrome has been established. Information on new mutations may be submitted online. OCRL1 mutation database Reported OCRL1 mutations causing Lowe Syndrome Numbering of exons, nucleic acid sequence, and protein sequence used in this database List of investigators References Other Resources Submit a new mutation Last modified: Tuesday, 25-Jun-2002 08:57:42 EDT Comments, suggestions and problems to bioinformatics@nhgri.nih.gov www.genome.gov Privacy Site Map ... Home

95. Katalog - Wirtualna Polska Serwis Katalog w Wirtualna Polska S.A. pierwszy portal w Polsce. http://katalog.wp.pl/DMOZ/Health/Conditions_and_Diseases/Genetic_Disorders/Lowe_

Poczta Czat SMS Pomoc Szukaj.wp.pl: -Katalog -Polskie www -¦wiatowe www -Wirtualna Polska -FTP/Pliki -Grupy dyskusyjne -Encyklopedia -Produkty wp.pl Katalog Katalog ¦wiatowy DMOZ ... Conditions and Diseases > Genetic Disorders Fakty o Katalogu Pomoc Regulamin Serwis szukaj ... Ostatnio dodane NAWIGACJA Fakty o katalogu Pomoc Regulamin Serwis Szukaj ... FAQ Dodaj stronê Katalog WP Polskie Strony WWW Oferta dla firm WP-HIT ... Wirtualna Polska

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 5     81-95 of 95    Back | 1  | 2  | 3  | 4  | 5