61. Research Review 2001 - Uncovering Clues To Complex Diseases Alongside his research into bardetbiedl syndrome, he runs weekly clinics forgeneral genetic disorders with a specialist interest in renal and ocular http://www.ich.ucl.ac.uk/publications/research_review01/16genes2.html

Publications Unit Research Reviews Annual Reports Corporate Plan Summary Annual Clinical Governance Report Other publications More on GOSH Newsletters Roundabout Downloads and guidelines (Passwords are available from the Publications Unit) Contact information Email: publications@gosh.nhs.uk Tel: 020 7829 8671 Genes, Development and Disease Dr Phil Beales Uncovering clues to complex diseases ICH researchers have found the first example of a human monogenetic disorder requiring three faulty genes, providing a breakthrough for those studying the genetics of complex diseases like asthma and obesity. For Dr Beales a chance encounter with a patient suffering from a rare disorder has led to some landmark discoveries which may help unravel the genetic causes of complex diseases such as obesity. It was while practising general medicine at the Royal London Hospital that Dr Beales admitted a patient with unusual symptoms. The 32-year-old man, in a diabetic coma, was blind and overweight with several scars, remnants of extra digits on his hands and feet. He also had learning difficulties and diabetes. Dr Beales diagnosed him with a rare genetic condition, Bardet-Biedl syndrome, which affects around one in 100,000 births. In 1999, while working with collaborators in the US, Dr Beales cloned the first of these genes, BBS6, which is located on chromosome 20. Early sequence comparisons suggested that this gene encoded a protein whose function was to help other newly synthesised proteins to fold correctly, ensuring their active shape. Further analysis of mutations in this gene among BBS families pinpointed eight families where the affected children carried only one faulty copy of the gene, a finding inconsistent with the model of recessive inheritance.

62. Laurence-Moon-Bardet-Beidel What is LaurenceMoon-bardet-biedl syndrome? Retinitis Pigmentosa (Including Laurence-Moon-Bardet-BiedlSyndrome) a select bibliography for the layman . http://www.nhbvi.com/internet/Eye/lmbb.html

Search: What is Laurence-Moon-Bardet-Biedl Syndrome? Information from Contact a Family Information from Guy's Hospital, London Information from the OMIM database Discussion, Publications, and Support Laurence-Moon-Bardet-Biedl Network Laurence-Moon-Bardet-Biedl Society (UK) "Retinitis Pigmentosa (Including Laurence-Moon-Bardet-Biedl Syndrome): a select bibliography for the layman" Link Lists Birth Disorder Information Directory Family Village LowVision.org Sindrome di Laurence-Moon-Bardet-Biedl

63. EPOS - European Paediatric Ophthalmological Society Abstracts. 27 bardetbiedl syndrome variability of clinical expression. Renal abnormalitiesalso appear to have a high frequency in the bardet-biedl syndrome. http://www.epos-focus.org/meeting/2001/27.php

Home Annual Meeting 2003 Former Meetings The Society ... Contact EPOS EUROPEAN PAEDIATRIC OPHTHALMOLOGICAL SOCIETY Abstracts 27 Bardet-Biedl syndrome: variability of clinical expression Besch, D., Zrenner, E. University Eye Hospital Tübingen Purpose: Bardet-Biedl-Syndrome is a clinical and genetic heterogeneous disorder. Cardinal manifestations are mental retardation, tapetoretinal degeneration, polydactyly, obesity, and hypogenitalism. Renal abnormalities also appear to have a high frequency in the Bardet-Biedl syndrome. Dental abnormalities, liver disease, hypertension, cardiac abnormalities and diabetes mellitus or Morbus Hirschsprung have also been described in those patients. Methods: We present a survey of visual function changes and other clinical manifestations of the disorder in 20 unrelated patients with rare autosomal-rezessive Bardet-Biedl syndrome. Depending on age and mental retardation ophthalmological examinations included psychophysical tests such as color vision (Farnsworth D15), dark adaptation threshold and Goldmann visual fields. Additionally, a Ganzfeld ERG following the International Society for Clinical Electrophysiology of Vision (ISCEV) standard protocol and a VERIS multifocal ERG was obtained in most of the patients.

64. Gene-Gene Relation In HUMAN GENOME 940, BBS1, bardetbiedl syndrome 1, 11q13. 941, BBS2, bardet-biedl syndrome 2, 16q21.942, BBS3, bardet-biedl syndrome 3, 3p. 943, BBS4, bardet-biedl syndrome 4, 15q22.3-q23. http://gene.postech.ac.kr/g2g/hugo_list.php?page=10

65. Bardet-biedl, Syndrome : Arborescences MeSH Translate this page bardet-biedl, syndrome. bardet-biedl, syndrome C16.131.077.112 page CISMeF du motclefBeckwith Wiedemann, syndrome C16.131.077.133 page CISMeF du motclef http://www.chu-rouen.fr/navimesh/navibardetbiedlsyndrome.html

Bardet-biedl, Syndrome : arborescences MeSH Menu général CISMeF Vous pouvez aussi consulter toutes les arborescences des mots clés utilisés dans CISMeF 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.

66. BARDET-BIEDL (LAURENCE-MOON-BARDET-BIEDL) SYNDROME Features Listed For bardetbiedl (LAURENCE-MOON-bardet-biedl) syndrome.McKusick 209900. Abnormal liver (including function); Biliary http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?154

67. Syndrome Of Bardet-Biedl bardetbiedl's syndrome. Health has no price Obesidad.net is educationalVisit us continually. You bardet-biedl'S syndrome. Bardet http://www.obesidad.net/english2002/disorder9.shtml

Bardet-Biedl's syndrome Health has no price Obesidad.net is educational Visit us continually. You will always find new advice for your health. Recommend this site. Recommend this site to a friend or relative who may find it helpful BARDET-BIEDL'S SYNDROME Bardet-Biedl's syndrome is a hereditary disease that affects many parts of the body. Obesity, the pygmentary retinitis (night blindness and the progressive loss of the peripheral vision), the mental delay, the hypogonadism, the renal damage and the polydactylia (fingers extra in the feet), define the characteristics of Bardet-Biedl's syndrome. INHERITANCE Two forms have been identified: Bardet-Biedl's syndrome 1, which does not have relation with the chromosome 16. Bardet-Biedl's syndrome 2, that has relation with the chromosome 16. Bardet-Biedl's syndrome is transmitted genetically across the families by inheritance autosomic recessive. In this type of inheritance, both parents are called carriers, they have a gene of the syndrome paired with a normal gene. Each of his children have at the time a possibility of 25% (or an opportunity in four) of inheriting both Bardet-Biedl's genes (one of every father) necessary to cause this disease. The carriers are healthy because only they have a copy of the gene. At this moment, it is impossible to determine if someone is a carrier of Bardet-Biedl's syndrome but until the birth of an affected child.

68. Map Of Obesidad.Net syndrome Sexual development on Prader Willie's syndrome Problems in the qualityof life in Prader Willie's syndrome bardetbiedl's syndrome Inheritance on http://www.obesidad.net/english2002/sitemap.shtml

To navigate better Health has no price Obesidad.net is educational Visit us continually. You will always find new advice for your health. Recommend this site. Recommend this site to a friend or relative who may find it helpful SITE MAP OF OBESIDAD.NET Veritatem dies apelit (The time discovers the truth). Seneca To go directly at which you wish to know in Obesidad.Net just click in the corresponding link. Home page Leaders What you will find here Defining obesity ... Book "Eating is a pleasure when you know how to do it" Quote of the day: Your opinion is very important to us Follow our 18 tips for success in your diet Dear visitor: The object of this web site is to inform and educate. Therefore, the information contained herein does not substitute professional medical attention. If you have any doubt with respect to this information consult your personal doctor. Medical supervision by Dr. Arieh Goldberg Kalik. Bariatric physician, certified medical nutrition specialist. Certificate # 1010084 Any doubts as to overweight, obesity and nutrition :

69. Syndrome De Bardet-Biedl Translate this page Références Beales PL, Warner AM, Hitman GA, Thakker R, Flinter FA, Bardet-Biedlsyndrome a molecular and phenotypic study of 18 families. http://orphanet.infobiogen.fr/data/patho/FR/fr-bardet.html

Syndrome de Bardet-Biedl Auteur : Professeur Dominique Bonneau Editeur : Professeur Didier Lacombe Nom de la maladie et ses synonymes Syndrome de Bardet-Biedl, BBS, BBS1, BBS2, BBS3, BBS4, BBS5, BBS6 Syndrome de Mac Kusick-Kaufmann. Noms des maladies exclues Syndrome de Laurence-Moon (OMIM 245800), Syndrome de Biemond 2 (OMIM 210350). et al Incidence Description clinique Les autres signes ophtalmologiques Le retard mental Evolution Les malformations comportent Sur le plan visuel Sur le plan intellectuel Modes de prise en charge incluant les traitements Traitement curatif : aucun n'est actuellement disponible. Traitement symptomatique et al. Localisation BBS 1 Leppert et al. Mykytyn et al. BBS 2 Kwitek-Black et al. Nishimura et al. BBS 3 Sheffield et al BBS 4 Carmi et al Gorman et al BBS 5 Young et al BBS 6 Slavotinek et al Katsanis et al - biochimique : aucune et al Beales PL, Warner A.M, Hitman G A, Thakker R, Flinter FA, Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families. J Med Genet 1997, 34, 92-98. Bruford EA, Riise R, Teague PW, PorterK, Thomson KL, Moore AT, Jay M, Warburg M, Schinzel A, Tommerup N, Tornqvist K, Rosenberg T, Patton M, Mansfield DC, Wright AF. Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21. Genomics 1997, 41, 93-99. Carmi R, Rokhlina T, Kwitek-Black AE, Elbedour K, Nishimura D, Stone EM, Sheffield VC. Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15. Hum Mol Genet 1995; 4: 9-13

70. Sindrome Laurence Moon Bardet Biedl Syndrome Bambi Sindrome di Laurence Moon Bardet Biedl Laurence Moon Bardet Biedl http//www.rpitalia.org/riabilitazione_sanpaolo.htmhttp//www.5mcc.com/SUMMARY/0519.html http http://fastnet.it/enti/bambi/sindrome-laurence-moon-bardet-biedl.htm

Sindrome di Laurence Moon Bardet Biedl Laurence Moon Bardet Biedl http://www.rpitalia.org/riabilitazione_sanpaolo.htm http://www.5mcc.com/SUMMARY/0519.html http://www.lmbbs.org.uk http://home.talkcity.com/OceanBlvd/iamahawkfan/bardetbeidlsyndrome.html ... http://rarediseases.about.com/health/rarediseases/cs/bardetbiedlsynd/index.h tm http://www.patient.co.uk/illness/l/laurence_moon_bbs.html http://hjem.get2net.dk/ole_jorgensen http://www.healthfinder.gov/text/docs/doc04525.htm http://www.laurushealth.com/Library/HealthGuide/SelfHelp/_followlink.asp?sgm ... http://www.bis.med.jhmi.edu/Dan/kidbase/bardetbiedl/bardetbiedl-help.html BAMBI -INFORMAZIONI SULLE MALATTIE RARE DEI BAMBINI- E' ON LINE DAL 1997 E-mail ruffelli@tin.it

71. 1Up Health > Health Links Directory > Conditions And Diseases: Neurological Diso Sites. The CaF Directory Information about Laurencemoon-bardet-biedlsyndrome, its symptoms and inheritance patterns. Laurence-Moon http://www.1uphealth.com/links/brain-diseases-bardet-biedl-syndrome.html

Home Contact Us Privacy Caring For Your Well Being Alternative Medicine Clinical Trials Health News Poisons ... Health Topics A-Z Search 1Up Health Health Directory Addictions Alternative Animal ... Weight Loss By Demography Child Health Teen Health Men's Health Women's Health ... Brain Diseases : Bardet-Biedl Syndrome Description See Related Categories Health: Conditions and Diseases: Genetic Disorders Health: Conditions and Diseases: Rare Disorders Sites The CaF Directory Information about Laurence-moon-bardet-biedl syndrome, its symptoms and inheritance patterns. Laurence-Moon-Bardet-Biedl Syndrome Network Raises public awareness of the Laurence-Moon Bardet-Biedl syndrome and serves as a place for parents of LMBBS children to meet and exchange ideas. National Library of Medicine A summary of Bardet-Biedl syndrome and a list of major features. NORD - Bardet Biedl Syndrome Offers a general discussion along with further resources. Readers Digest Health Bardet-Biedl syndrome: General information and resources. UMDS: LMBBS Information for health-care professionals involved in the care of Laurence-Moon-Bardet-Biedl Syndrome patients and for parents or relatives seeking education on the syndrome.

72. Laurence Moon Bardet Biedl Syndrome Center offers contact info for support services for patients with LaurenceMoon-Bardet-Beidl syndrome. See related links. http://www.kumc.edu/gec/support/laurmoon.html

Laurence Moon Bardet Biedl Syndrome Laurence Moon Bardet Biedl Syndrome Network Laurence-Moon-Bardet-Biedl Syndrome , Canada Laurence-Moon-Bardet-Biedl Syndrome (LMBBS) , Molecular and Medical Genetics, Prince Philip Research Laboratories, Guy's Hospital London Laurence-Moon Syndrome , Pediatric Database (PEDBASE) Laurence-Moon-Bardet-Biedl (LMBB) , Senter for sjeldne sykdommer og syndromer Smågruppesenteret på Rikshospitalet Centre for Rare Disorders Laurence-Moon-Bardet-Biedl Society , United Kingdom Bardet-Biedl Laurence-Moon Syndrome , Belgium or Dutch LMBBS discussion group,(Laurence Moon Baardet-Beidl Syndrome) , Australia Syndrome de Laurence-Moon-Bardet-Biedl France Laurence-Moon Syndrome , Online Mendelian Inheritance in Man (OMIM) #245800 Bardet-Biedl Syndrome (BBS) , Online Mendelian Inheritance in Man (OMIM) Laurence Moon , signs of condition, Orphanet Laurence-Moon-Bardet-Biedl Syndrome , WideSmiles Also See: National organizations information on genetic conditions or birth defects Information for siblings and family members , genetic conditions Vision Impairment / Blindness Resources To locate a genetic counselor or clinical geneticist in your area: Professional Genetics Societies Genetic clinics, centers, departments

73. Laurence Moon/Bardet Biedl Syndrome Laurence Moon/. Bardet Biedl syndrome. LMBBS Home page This page is aimed primarily at medical and healthcare http://www.lowvision.org/laurence_moon.htm

Laurence Moon/ Bardet Biedl Syndrome LMBBS Home page This page is aimed primarily at medical and health-care professionals involved in the care of LMBBS patients and also for parents or relatives wishing to know more about the syndrome and the implications for those affected. NORD - Laurence Moon Syndrome Laurence-Moon Syndrome is a rare inherited disorder characterized by diminished hormone production by the testes or ovaries (hypogonadism), progressive loss of vision (retinitis pigmentosa), mental retardation, and paralysis of the legs and lower part of the body accompanied by involuntary muscle contractions (spastic paraplegia). LMBBS Home page This page is aimed primarily at medical and health-care professionals involved in the care of LMBBS patients and also for parents or relatives wishing to know more about the syndrome and the implications for those affected.

74. 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.

75. Laurence-Biedl (syndrome De) Translate this page Mise à jour octobre 2001 Des chercheurs ont montré que le syndrome de Bardet Biedln'est pas causé par la mutation d'un seul gène (zone précise située 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.

76. Bardet Biedl Syndrome Articles, Support Groups, And Resources Bardet Biedl syndrome articles, support groups, and resources for patientsfrom Med Help International (www.medhelp.org). Bardet Biedl syndrome. http://www.medhelp.org/HealthTopics/Bardet_Biedl_Syndrome.html

[Health Topics A-Z] A B C D ... Z Bardet Biedl Syndrome Support Groups: Laurence Moon Bardet Biedl Syndrome [Med Help Home] [Library Search] [Medical Forums] ... [Patient Network] Revised: 3/30/2003

77. Laurence Moon Bardet Biedl Syndrome Laurence Moon Bardet Biedl syndrome. National network. Founded 1983. Mutual supportand networking for persons affected by Lawrence Moon Bardet Biedl syndrome. http://www.medhelp.org/amshc/amshc435.htm

Title: The Lissencephaly Network Description: Support for families affected by lissencephaly or other neuronal migration disorders, and their families. Helps relieve the stress of caring for an ill child. Research updates, newsletter, database of affected children. Networking of parents. Scope: International network Founded: Address: c/o Dianna Fitzgerald 10408 Bitterroot Ct. Ft. Wayne, Indiana, 46804 United States Telephone: Fax: Email: DianneFitz@aol.com Web Address: http://www.lissencephaly.org 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

78. 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

79. 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

80. Health Library - Bardet Biedl Syndrome Bardet Biedl syndrome. Disorder Subdivisions. None. General Discussion. BardetBiedlsyndrome is a rare disorder inherited as an autosomal recessive genetic trait. http://www.laurushealth.com/library/healthguide/illnessconditions/topic.asp?hwid

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