61. Laurence-Moon-Bardet-Biedls Syndrom - Små Och Mindre Kända Handikappgrupper The cardinal manifestations of BardetBiedl syndrome, a form of laurence-moon-Biedlsyndrome. Riise R. Visual function in laurence-moon-Bardet-Biedl syndrome. http://www.sos.se/smkh/2002-29-154/2002-29-154.HTM

Socialstyrelsen 106 30 Stockholm e-post Socialstyrelsen klassificerar sin utgivning i olika dokumenttyper Laurence-Moon-Bardet-Biedls syndrom Bardet-Biedl syndrom Laurence-Moon-syndrom LMBB Sjukdom/skada/diagnos Orsak till sjukdomen/skadan Symtom Diagnostik ... Dokumentinformation: Dokumentdatum: 2002-03-01 Version: 1.0 Artikelnummer: 2002-29-154 Socialstyrelsen Detta är ett utdrag ur Socialstyrelsens kunskapsdatabas om små och mindre kända handikappgrupper. Med små och mindre kända handikappgrupper avses ovanliga sjukdomar/skador som leder till omfattande funktionshinder och som finns hos högst 100 personer per miljon invånare. Syftet med databasen är att ge aktuell information om små och mindre kända handikappgrupper och om det stöd och den service som dessa grupper behöver. För ytterligare information om aktuell diagnos hänvisas till informationsmaterial, litteratur och databaser som anges under resp diagnos. Sjukdom/skada/diagnos Orsak till sjukdomen/skadan Symtom l l l l l l nedsatt njurfunktion. Diagnostik Praktiska tips Resurspersoner Kurser, erfarenhetsutbyte, rekreation

62. Syndrome Mit Netzhaut-Aderhautdystrophien Translate this page Stoffwechselerkrankungen ist eine diätetische Therapie möglich. HäufigerUsher syndrome, Kearns-Sayre Syndrom, laurence-moon-Bardet-Biedl Syndrom. http://retinadiagnostic.de/krank_kell/syndrome_index.html

aktualisiert: 27.12.2002 9 Syndrome mit Netzhaut-Aderhautdystrophien Usher Syndrom Kearns-Sayre Syndrom Laurence Moon Bardet Biedl Syndrom Refsum Syndrom ... Andere Syndrome: seltene Syndrome in alphabetischer Auflistung Usher Syndrom Genetik: Autosomal rezessiv: Mutationen in folgenden Genen: CDH23 (Typ 1d; 56%), MYO7A (Typ 1b), PCDH15 (Typ 1f), USH1C (Typ 1c), USH2A (Typ 2a), USH3A (Typ 3a) Weitere chromosomale Genlokalisationen: USH1A, USH1E, USH1G, USH2B, USH2C Hinweis: bei Mutation in einigen Genen kann auch eine Einzelsyptomatik auftreten (Familienanamnese!): Symptomatik: Klinische Befunde: Funktionelle Untersuchungen: ERG: Typ 1: erloschen, Typ 2: stark reduziert bis erloschen Besonderheiten: zum Seitenanfang Kearns-Sayre Syndrom Genetik: mitochondriale Vererbung (KSS) Symptomatik: Klinische Befunde: Funktionelle Untersuchungen: Visus: variable Reduktion EOG: normaler bis fehlender Hellanstieg Besonderheiten: zum Seitenanfang (Laurence-Moon-)Bardet-Biedl Syndrom Genetik: Autosomal rezessiv: Mutationen in folgenden Genen: BBS1, BBS2 (20%), BBS4 (3-6%), MKKS weitere chromosomale Genlokalisationen: BBS3, BBS5

63. Alström's Syndrome (www.whonamedit.com) neurogenous deafnes. A specific syndrome (not hitherto described) distinctfrom the laurencemoon-Biedl syndrome. A clinical endocrinological http://www.whonamedit.com/synd.cfm/511.html

Home List categories Eponyms A-Z Biographies by country ... Contact Alström's syndrome Also known as: Alström-Hallgren syndrome Hallgren-Alström syndrome Synonyms: Retino-otodiabetic syndrome. Associated persons: Carl Henry Alström Bertil Hallgren Description: A syndrome similar to (Laurence-Moon-)Biedl-Bardet that manifests with obesity in childhood, nerve deafness and retinal degeneration (atypical retinitis pigmentosa). Blindness usually occurs by age 7 years. Primary hypogonadism in males, and juvenile diabetes mellitus. Acanthosis nigricans, hypogonadism with normal secondary sex characteristics, and kyphoscoliosis may be associated. Metabolic findings include hyperuricaemia and elevated serum triglycerides and pre-ß-lipoproteins. Mental capacity is normal. Inheritance is autosomal recessive. Only 104 children and adults (by 2001) world-wide are known to have this extremely rare condition. Most cases are in developed countries such as Canada, the United States of America and the United Kingdom, the latter having the largest group of diagnosed patients. In 1946, at the Serafimerlasarettet Hospital, Alström saw a 14 year old boy who appeared to have symptoms similar to the Laurence-Moon-Bardet-Biedl Syndrome, yet this patient's condition was different in several important ways. The child had retinal degeneration and obesity bearing a similarity to LMBBS, but also exhibited neurological hearing impairment and normal mental development. When Alström moved to the Karolinska Institute, he undertook further investigations, revealing that that the young man had two second cousins, a boy and a girl about ten years older, with similar but more pronounced features. These three were described by Alström and his co-authors in 1959. The conjoined eponym Alström-Hallgren syndrome was used for some time, but the condition was eventually designated simply Alström Syndrome.

64. About Us Page And All Our Publications To Date - Part Of The LMBB Society Web Si The laurencemoon-Bardet-Biedl Society is the only registered charity supportingpeople with laurence-moon-Bardet-Biedl syndrome, their families and carers. http://www.lmbbs.org.uk/About_LMBBS.htm

Home AGM LMBB Conference Your Views ... Contact LMBBS [ About the LMBB Society ] About the LMBB Society What is the LMBB Society? The Laurence-Moon-Bardet-Biedl Society is the only registered charity supporting people with Laurence-Moon-Bardet-Biedl Syndrome, their families and carers. It provides information for them and the medical and other professions. All members of the Management Committee are volunteers. The Society produces newsletters, holds an annual family conference, and co-operates with research relevant to the Syndrome. Through the printing and distribution of information booklets, the Society has raised awareness of the Syndrome and, as a direct result, membership has more than trebled in the past two years. The Society now supports over 200 families and communicates with over 250 professionals involved in their care. How can we help? By putting you in touch with other families who are facing similar problems. By passing on advice which has helped us in the day to day management of our children. By sending information which will help professionals in medical and educational fields to understand more about our special children. (see below)

65. Perinnöllisyysklinikan Tietolehtiset Sekä Tilauslomake synonyymit) laurencemoon-Bardet-Biedl – oireyhtymä, laurence-moon-Bardet-Biedl– syndrooma, Bardet-Biedl syndrome, laurence-moon-Bardet-Biedl syndrome. http://www.vaestoliitto.fi/toimintayksikot/perinnollisyysklinikka/sisaltosivut/b

Erikoislääkäri Maarit Peippo Väestöliiton perinnöllisyysklinikka 2002 Bardet-Biedl-oireyhtymästä Avainsanat (synonyymit): Laurence-Moon-Bardet-Biedl – oireyhtymä, Laurence-Moon-Bardet-Biedl – syndrooma, Bardet-Biedl syndrome, Laurence-Moon-Bardet-Biedl syndrome Bardet-Biedl-oireyhtymä (BBS) on eräitä arabiväestöjä lukuun ottamatta erittäin harvinainen oireyhtymä, jonka esiintyvyydeksi on arvioitu 1:150 000. Oireyhtymän pääoireet ovat silmänpohjan rappeuma, kehityksen hitaus ja oppimisvaikeudet, ylipainoisuus, ylimääräiset pikkuvarpaat ja/tai pikkusormet sekä sukurauhasten toimintaan vaikuttavien hormonien vaje. Oireet ilmenevät ylimääräisiä sormia tai varpaita lukuunottamatta vähitellen lapsen iän karttuessa ja diagnoosin on usein päästy vasta kouluikää lähestyttäessä. Diagnoosin asettamiseen vaaditaan neljä mainituista viidestä pääoireesta ellei suvussa ole aiempaa BBS-tapausta. BBS:ää hyvin läheisesti muistuttavat Laurence-Moon, Alström, Biemond ja McKusic-Kaufman -oireyhtymät. Varsinkin BBS-, Laurence-Moon ja Alström -piirteitä saattaa esiintyä saman sisarussarjankin eri potilailla ja oireyhtyminen lopullinen erottelu toisistaan ratkennee vasta, kun niitten taustalla olevat geenit löytyvät. Toiset asiantuntijat haluavat tässä vaiheessa pitää BBS:ää, Laurence-Moonia ja Alströmiä yhtenä tautikokonaisuutena.

66. EnableNet - Enablenet.browse.browse Dis Multiple Disabilities laurencemoon-Biedl syndrome laurence-moon-Biedlsyndrome Matching Resources. Records 1-1 of 1 http://www.enable.net.au/index.cfm?fuseaction=enablenet.browse.browse&catid=1950

67. BOTOX - Laurence-Moon-Bardet-Biedl - SLT // COCNet retardation, pigmentary retinopathy, polydactyly, obesity, and hypogenitalism,and has incorrectly been called LMBB (laurencemoon-Bardet-Biedl) syndrome. http://cocnet.online.fr/ophthal/pro/focaleng.html

Botulinum toxin Bardet-Biedl Syndrome Selective Laser Trabeculoplasty BOTULINUM TOXIN The intraneuronal mechanism of action of BTX-A involves the proteolytic cleavage by its light chain of the protein SNAP 25. With syntaxin, synaptobrevin and synaptostagmin, these neuronal proteins form the core complex postulated to coordinate regulated vesicularfusion for neurotransmitter release. By preventing the assembly of this synaptic core complex, botulinum toxin inhibits neurotransmitter release, notably for cholinergic and catecholaminergic cells, but this can also occur for several classes of neutransmitters at central and peripheral neurones, once the toxin is injected intraneuronally in vitro JM Gracies LINKS BARDET-BIEDL SYNDROME This condition is characterized by mental retardation, pigmentary retinopathy, polydactyly, obesity, and hypogenitalism, and has incorrectly been called LMBB (Laurence-Moon-Bardet-Biedl) syndrome. Ammann (1970) pointed out that these features were present in the patients of Biedl (1922) and Bardet (1920), but that the patients of Laurence and Moon had a distinct disorder with LINKS Selective Laser Trabeculoplasty: Clinical Results - A One Year Prospective Study H. Gracies , Y. Lachkar, J. Da Cunha, J. Kopel

68. Rikshospitalet: Senter For Sjeldne Sykdommer Og Syndromer Fabry disease, galactosaemia, genital anomalies, hereditary cholestasislymphedemasyndrome, Huntington chorea, laurence-moon-Bardet-Biedl syndrome (LMBB), LCAT http://ssss.oslonett.no/side.php?s=english

69. Roche Lexikon Medizin (4. Aufl.) - Laurence*-Moon*-Biedl*-Bardet* Syndrom Translate this page engl. laurence-moon-Bardet-Biedl syndrome Biogr. ROBERT DANIEL L., 1895–1968,brit. Diabetologe, London ROBERT CM, 1844–1914, brit. http://www.gesundheit.de/roche/ro20000/r21846.html

Laurence*-Moon*-Biedl*-Bardet* Syndrom engl.: Laurence-Moon-Bardet-Biedl syndrome Biogr.: R OBERT D ANIEL OBERT RTHUR B I EORGES B A Verwandte Themen Bardet*-Biedl* Syndrom Biedl* Krankheit Degeneratio, Degeneration dienzephaloretinale Degeneration

70. GenISYS - Links Related To Genetics laurencemoon-Bardet-Biedl syndrome, The laurence-moon-Bardet-Biedl Society providessupport and information for people with LMBB syndrome, their families and http://www.cee.hw.ac.uk/genisys/pub/genlinks.html

Location: Information on Genetics Genetics Related Links Cancer Related Links Patient Support Organisations Genetics Related Links Note: No endorsement of views expressed, or responsibility for information given by these sites is implied by listing them here. Cardiomyopthy Association This site is designed to provide information on the main forms of the heart muscle disease known as Cardiomyopathy. Gauchers Association The Gauchers Association was formed to meet the needs of those suffering from Gaucher disease. Genetic Interest Group The Genetic Interest Group (GIG) is a national alliance of organisations with a membership of over 120 charities which support children, families and individuals affected by genetic disorders. Huntington's Association (Scottish) Regional site of the UK Huntington's Association offering "information and support to families with HD, their friends and professionals". Laurence-Moon-Bardet-Biedl Syndrome The Laurence-Moon-Bardet-Biedl Society provides support and information for people with LMBB Syndrome, their families and carers, medical and other professions.

71. Laurence-Biedl (syndrome De) Translate this page Laurence-Biedl (syndrome de). Appelé également syndrome de laurence-moon-Biedl-Bardet.De nature héréditaire, il comprend Une obésité. Un retard mental. http://www.vulgaris-medical.com/textl/laurbied.htm

Laurence-Biedl (syndrome de) Appelé également syndrome de Laurence-Moon-Biedl-Bardet. De nature héréditaire, il comprend : Une obésité Un retard mental Une rétinite pigmentaire (inflammation de la rétine) Des problèmes génitaux Une polydactylie (présence de doigts surnuméraires) Des problèmes neurologiques (rarement) Des anomalies cardiaques (rarement) Des anomalies rénales (rarement) Ce syndrome est transmis selon le type autosomique récessif : les 2 parents doivent être porteurs du gène (localisé sur un chromosome non sexuel) pour que l’enfant développe la maladie. Mise à jour octobre 2001 Des chercheurs ont montré que le syndrome de Bardet Biedl n'est pas causé par la mutation d'un seul gène (zone précise située sur un chromosome à l'origine des ordres pour la fabrication des protéines de la cellule) mais nécessite la mutation de deux gènes, de deux allèles d'un même gène et un autre gène. Un allèle est chacun des deux gènes d'une paire de chromosomes. Leur emplacement, que l'on appelle locus (au pluriel loci), est identique sur chacun de ces deux chromosomes et ils possèdent tous les deux la même fonction. Néanmoins, chaque allèle exerce cette fonction d'une manière différente. 3 gènes SBB ont été identifiés (SBB 2, SBB 6, est SBB 4) ainsi que trois autres loci SBB. Les conclusions d'un chercheur du nom de Katsanis et ses collaborateurs (Baylor College of medicine Houston) propose que le syndrome SBB pourrait ne pas être un trouble récessif causé par un gène unique mais nécessitant trois allèles.

72. Bardet-Biedl Laurence-Moon Syndroom Een Belgische site over het BardetBiedl laurence-moon Syndroom. http://www.angelfire.com/co3/PEKICH

NL ENG Bardet-Biedl Laurence-Moon Syndroom Home Geschiedenis Kenmerken Behandeling Hulpmiddelen ... e-mail Op de volgende pagina's kan je lezen over wat jullie zoon/dochter allemaal heeft en/of kan krijgen. Maar één ding mag je nooit vergeten : Zie hem/haar nooit als een syndroom,maar als jullie zoon/dochter,een eigen wezen met zijn/haar persoonlijkheid. We wensen jullie veel plezier met het lezen Vote for me in Eagle-eye.be Top 40 Contact: Webmaster

73. Health Library - Laurence Moon Bardet Biedl Syndrome Laurence Moon Bardet Biedl syndrome. Self Help Clearinghouse. LaurenceMoon Bardet Biedl syndrome. National network. http://www.laurushealth.com/library/healthguide/selfhelp/topic.asp?hwid=shc29lmb

74. NORD - National Organization For Rare Disorders, Inc. Laurence Moon syndrome. To purchase fulltext report ($7.50) Copyright 1986,1987, 1989, 1990, 1993, 1997, 1999 Synonyms of Laurence Moon syndrome http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Laurence Moon

75. Short Description Of Cell Lines. Pathology Laurence-Moon Version 4.200205, Short description of cell lines. Pathology LaurenceMoonsyndrome *245800 OMIM record. - By selecting the cell http://www.biotech.ist.unige.it/cldb/pat106.html

76. Healthfinder® — Laurence Moon Syndrome Basic consumer information about Laurence Moon syndrome including a list ofsynonyms and resources where you can get additional information. http://www.healthfinder.gov/Scripts/ShowDocDetail.asp?doc=4526&lang=1

77. Health Library - Laurence Moon Bardet Biedl Syndrome Your Health. Search. Laurence Moon Bardet Biedl syndrome. Self Help Clearinghouse.Laurence Moon Bardet Biedl syndrome. National network. http://yourhealth.stlukesonline.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=

78. Bardet Biedl Syndrome (BBS) Links to information and resources for Laurence Moon syndrome/BardetBiedl syndrome, a genetic disorder of chromosomes 16, 3, and 15. http://rarediseases.about.com/cs/bardetbiedlsynd/

zfp=-1 About Rare/Orphan Diseases Search in this topic on About on the Web in Products Web Hosting Rare/Orphan Diseases with Mary Kugler Your Guide to one of hundreds of sites Home Articles Forums ... Help zmhp('style="color:#fff"') Subjects BUYER'S GUIDE Before You Buy Top Picks Sites for Online Specialty Shopping ... All articles on this topic Stay up-to-date! Subscribe to our newsletter. Advertising Free Credit Report Free Psychics Advertisement Bardet Biedl Syndrome/Laurence Moon Synd Guide picks A genetic disorder of chromosomes 16, 3, and 15 which causes progressive blindness, obesity, extra fingers and toes, and mental retardation. Bardet Biedl Syndrome - Univ of Iowa Brief information about chromosomes and Bardet Biedl Syndrome, from the University of Iowa. The Foundation Fighting Blindness: Bardet Biedl Good information on Bardet Biedl Syndrome and its effect on vision (less medical terminology). Howard Hughes Medical: Bardet Biedl Article on the discovery of the gene for Bardet Biedl Syndrome, from the Howard Hughes Medical Institute. Laurence Moon Bardet Biedl Syndrome (LMBBS) Complete information on these disorders from the Division of Molecular and Medical Genetics, Guy's Hospital, London.

79. Health Library - Laurence Moon Bardet Biedl Syndrome Laurence Moon Bardet Biedl syndrome. Self Help Clearinghouse. LaurenceMoon Bardet Biedl syndrome. National network. http://yalenewhavenhealth.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29l

80. Laurence Moon Bardet-Biedl Syndrome Network Laurence Moon BardetBiedl syndrome Network. 124 Lincoln Ave Purchase, NY 10577 ConditionsRetinitis Pigmentosa; Laurence Moon Bardet Biedl syndrome. http://www.geneticalliance.org/Resources/displayorganization.html?orgname=Lauren

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