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
Extractions: Tel: 020 7829 8671 Dr Phil Beales 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.
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
Extractions: Search: What is Laurence-Moon-Bardet-Biedl Syndrome? Information from Contact a Family Information from Guy's Hospital, London Information from the OMIM database 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" Birth Disorder Information Directory Family Village LowVision.org Sindrome di Laurence-Moon-Bardet-Biedl
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
Extractions: 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.
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 (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
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
Extractions: 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.
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
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
Extractions: 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
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. LMBBS Home page This page is aimed primarily at medical and healthcare http://www.lowvision.org/laurence_moon.htm
Extractions: 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.
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/
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
Extractions: Laurence-Biedl (syndrome de) Appelé également syndrome de Laurence-Moon-Biedl-Bardet. De nature héréditaire, il comprend : 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 lenfant développe la maladie. 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.
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
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
Extractions: 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
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
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
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
