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         Bardet-biedl Syndrome:     more detail
  1. Biochemists focus on BBS.(Michel Leroux and Oliver Blacque's research on Bardet-Biedl Syndrome ): An article from: Canadian Chemical News
  2. Bardet-Biedl Syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Avis Gibons, 2005
  3. Maladie Du Segment Postérieur: Dégénérescence Maculaire Liée à L'âge, Uvéite, Syndrome de Bardet-Biedl, Rétinite Pigmentaire (French Edition)
  4. The (Laurence Moon) Bardet Biedl syndrome (Van Gorcum's medical collection, no. 207) by W Stiggelbout, 1969

21. Health Library -
Bardet Biedl Syndrome. None. General Discussion. bardetbiedl syndrome is a group of rare disorders inherited as autosomal recessive genetic traits.
http://yalenewhavenhealth.org/library/healthguide/IllnessConditions/topic.asp?hw

22. Disease Directory : Neurological Disorders : Brain Diseases : Bardet-Biedl Syndr
Diseases Neurological Disorders Brain Diseases bardetbiedl syndrome. Analysis of bardet-biedl syndrome 1 - Analysis of bardet-biedl syndrome 1, G2D Home.
http://www.diseasedirectory.net/Neurological_Disorders/Brain_Diseases/Bardet-Bie
Wednesday, June 02, 2004 Neurological Disorders Brain Diseases
Akinetic Mutism

Bardet-Biedl Syndrome
... Brain Diseases : Bardet-Biedl Syndrome
  • Analysis of Bardet-Biedl syndrome 1 - Analysis of Bardet-Biedl syndrome 1, G2D Home. GO TO: CHROMOSOMAL REGION Disease mapped: Bardet-Biedl syndrome 1 Chromosome: 11 Genomic position start-stop Analysis of Bardet-Biedl syndrome 2 - Analysis of Bardet-Biedl syndrome 2, G2D Home. GO TO: CHROMOSOMAL REGION Disease mapped: Bardet-Biedl syndrome 2 Chromosome: 16 Genomic position start-stop - Bardet-Biedl syndrome - Two case reports. Keywords: Bardet-Biedl syndrome; Retinitis pigmentosa; Choroid/pathology; Child; Adult; Case report; Literature review. Bardet – biedl syndrome - Medical Professionals only, registration required. Bardet – biedl syndrome,. Print this article, (Georges Bardet, born 1885, French Bardet Biedl Syndrome - Bardet Biedl Syndrome. General Discussion. Bardet-Biedl Syndrome is a group of rare disorders inherited as autosomal recessive genetic traits. Bardet Biedl Syndrome (BBS) - Links to information and resources for Laurence Moon Syndrome/Bardet Biedl Syndrome, a genetic disorder of chromosomes 16, 3, and 15.

23. Neurological Disorders, Brain Diseases, Bardet-Biedl Syndrome
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24. Bardet-Biedl Syndrome, Laurence-Moon/Bardet-Biedl,Biedl-Bardet,Adipogenital Reti
bardetbiedl syndrome also known as Laurence-Moon/bardet-biedl syndrome Laurence-Moon/Biedl Syndrome Biedl-Bardet Syndrome Adipogenital-Retinitis Pigmentosa
http://www.icomm.ca/geneinfo/bardet.htm
Bardet-Biedl Syndrome,Laurence-Moon/Bardet-Biedl,Biedl-Bardet,Adipogenital Retinitis Pigmentosa Polydactyly,Adreno-Retinitis Pigmentosa-Polydactyly Syndrome,Bardet-Biedl Syndrome,Laurence-Moon/Bardet-Biedl,Biedl-Bardet,Adipogenital Retinitis Pigmentosa Polydactyly,Adreno-Retinitis Pigmentosa-Polydactyly Syndrome For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX
to Information on the Internet about Genetic Disorders and Birth Defects
Genetic Information and Patient Services, Inc. (GAPS)
HOME
DISORDERS GLOSSARY Bardet-Biedl Syndrome

also known as:
Laurence-Moon/Bardet-Biedl Syndrome
Laurence-Moon/Biedl Syndrome
Biedl-Bardet Syndrome
Adipogenital-Retinitis Pigmentosa-Polydactyly Syndrome
Adreno-Retinitis Pigmentosa-Polydactyly Syndrome

To view the definitions click on each of the following links or just scroll down. As defined at NORD The Foundation Fighting Blindness UMDS NCBI (as defined by the National Organization for Rare Disorders Bardet-Biedl Syndrome is a rare disorder inherited as an autosomal recessive genetic trait. Major symptoms of this disorder may include mental retardation, obesity, delayed sexual development or underdeveloped reproductive organs, degeneration of the retinas of the eyes, kidney abnormalities and/or abnormal fingers and/or toes.

25. TOXOPLASMOSIS OF THE EYE
Medical information on bardetbiedl syndrome. What we see is made in the brain from signals given to it by the eyes. What Is bardet-biedl syndrome?
http://www.ssc.mhie.ac.uk/eyeconds/Bardet.htm
Scottish Sensory Centre Medical information on Bardet-Biedl 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 This document is not a substitute for a consultation with a Health Professional and should not to be used as a means of diagnosing a condition.

26. Bardet-Biedl Syndrome Information Diseases Database
bardetbiedl syndrome may cause or feature Medical information linksbardet-biedl syndrome specific sites. Medical dictionary, library and
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27. Clinical Trial: Genetics And Clinical Characteristics Of Bardet-Biedl Syndrome
Genetics and Clinical Characteristics of bardetbiedl syndrome. This study will evaluate patients with a rare inherited condition called bardet-biedl syndrome .
http://www.clinicaltrials.gov/ct/show/NCT00078091?order=14

28. Bardet-Biedl Syndrome (BBS)
bardetbiedl syndrome (BBS), What causes bardet-biedl syndrome? bardet-biedl syndrome is characterized as recessively inherited.
http://www.visionrx.com/library/enc/enc_bardetbiedl.asp
Health Center Dictionary Encyclopedia Innovation Spotlight ... Eye Care Library Bardet-Biedl Syndrome (BBS) What causes Bardet-Biedl syndrome?
How is Bardet-Biedl treated?

Bardet-Biedl syndrome is a rare genetic disorder that affects the brain and can cause multiple physical problems including a deterioration of the intellect and neurological functions. The syndrome sometimes affects eyesight with a condition called rod-cone dystrophy, a degeneration of light-sensitive cells in the periphery of the retina. This eye disorder causes night blindness, tunnel vision, decreased visual acuity, and photophobia (extreme sensitivity of the eyes to light). Other symptoms of Bardet-Biedl syndrome may include extra toes and/or fingers, mental retardation, kidney disease, and obesity.
What causes Bardet-Biedl syndrome?
Bardet-Biedl syndrome is characterized as recessively inherited. In other words, neither parent exhibits characteristics of the disorder, but both carry the recessive gene that causes the disorder. Parents who have one affected child run a 25 percent chance in each additional pregnancy of the condition occurring again. There is also a two in three chance that children of subsequent pregnancies, although not affected, will be carriers of the recessive gene. The syndrome is rare because the recessive gene is only carried by approximately 1 in 179 people. Therefore, a person carrying the gene is unlikely to conceive children with another person who also carries the gene.
How is Bardet-Beidl treated?

29. Bardet-Biedl Syndrome - General Practice Notebook
bardetbiedl syndrome. characterised by retinal dystrophy, hypogonadism, reduced IQ, obesity (+/- polydactyly) plus renal abnormalities
http://www.gpnotebook.co.uk/cache/-1429209021.htm
Bardet-Biedl syndrome
  • characterised by retinal dystrophy, hypogonadism, reduced IQ, obesity (+/- polydactyly) plus renal abnormalities (calcyceal cysts or diverticula, calyceal blunting or clubbing, fetal lobulation) this syndrome does not have neurological symptoms (spastic paraplegia) - this differentiates it from Laurence-Moon-Biedl syndrome recessive inheritance; genetic locus: 16q13-q21 epidemiology
      incidence 1: 160,000; in Newfoundland the incidence is much higher at 1: 17,500

    Click here for more information...

30. The Foundation Fighting Blindness - Canada
bardetbiedl syndrome, Printer Friendly. What is bardet-biedl syndrome? In bardet-biedl syndrome, central vision may become blurry as the first symptom.
http://www.ffb.ca/disease_bardet-biedl.php?hc=1

31. The Turkish Journal Of Pediatrics
bardetbiedl syndrome associated with vaginal atresia a case report. Sema Keywords bardet-biedl syndrome, vaginal atresia. Summary. This
http://tjp.dergisi.org/text.php3?id=88

32. Bardet-Biedl (syndrome De)
Translate this page Bardet-Biedl (syndrome de). Voir également allèle, locus. En Anglais bardet-biedl syndrome. Synonyme Laurence-Biedl (syndrome
http://www.vulgaris-medical.net/textb/bardet.html
Bardet-Biedl (syndrome de) Voir également allèle, locus. En Anglais : Bardet-Biedl syndrome. Synonyme : Laurence-Biedl (syndrome de), Laurence-Moon-Biedl-Bardet (syndrome de). De nature héréditaire ce syndrome 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)
Il 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.

33. Bardet-Biedl Syndrome
The New Health Directory, Directory, Home Health Conditions and Diseases Neurological Disorders Brain Diseases bardetbiedl syndrome (6) See Also
http://www.thenewhealthfind.com/Health/ConditionsandDiseases/NeurologicalDisorde
Directory Home Health Conditions and Diseases Neurological Disorders ... Brain Diseases : Bardet-Biedl Syndrome (6)
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34. :: Ez2Find :: Bardet-Biedl Syndrome
Guide bardetbiedl syndrome, Global Metasearch Any Language Guides, bardet-biedl syndrome. ez2Find Home Directory Health Conditions
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35. Online And Offline Support: L
Website http//www.geocities.com/HotSprings/9308/. LaurenceMoon-bardet-biedl syndrome. Laurence Moon Bardet Biedl Syndrome (United States).
http://www.widesmiles.org/support/l.html
L Langer-Giedion Syndrome Langer-Giedion Syndrome Association
  • People served: Individuals and families dealing with Langer-Giedion Syndrome Services provided: Information, public awareness, support for families, newsletter, and advocacy for research Contact people: Laurence-Moon-Bardet-Biedl Syndrome Please note: Laurence-Moon-Bardet-Biedl Syndrome includes specific facial characteristics that do not require reconstructive surgery. The LMBBS Society (United Kingdom)
    • People served: Families dealing with Laurence-Moon-Biedl Syndrome Services provided: Support and information Address: Spring Grove, Loudhams Wood Lane, Chalfont St Giles Bucks HP8 4AR Phone number: 01494 764924
    Laurence Moon Bardet Biedl Syndrome (United States)
    • People served: Families dealing with Laurence Moon Bardet Biedl Syndrome Services provided: Support and information Address: 124 Lincoln Avenue, Purchase NY 10577

36. Neurological Disorders: Brain Diseases: Bardet-Biedl Syndrome
Neurological Disorders Brain Diseases bardetbiedl syndrome. Standard Listings. Laurence-Moon-bardet-biedl syndrome Network. Raises
http://www.puredirectory.com/Health/Conditions-and-Diseases/Neurological-Disorde
Neurological Disorders: Brain Diseases: Bardet-Biedl Syndrome
Home Health Conditions and Diseases Neurological Disorders ... Brain Diseases : Bardet-Biedl Syndrome google_ad_client = 'pub-3272565765518472';google_ad_width = 336;google_ad_height = 280;google_ad_format = '336x280_as';google_color_border = 'FFFFFF';google_color_bg = 'FFFFFF';google_ad_channel ='7485447737';google_alternate_color = 'FFFFFF';google_color_link = '0000FF';google_color_url = '008000';google_color_text = '000000';
Standard Listings
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.
The CaF Directory
Information about Laurence-moon-bardet-biedl syndrome, its symptoms and inheritance patterns.
UMDS: LMBBS
Information for health-care professionals involved in the care of Laurence-Moon-Bardet-Biedl Syndrome patients and for parents or relatives seeki...

37. Health, Conditions And Diseases, Neurological Disorders, Brain Diseases: Bardet-
LaurenceMoon-bardet-biedl syndrome Network - Raises public awareness of the Laurence-Moon bardet-biedl syndrome and serves as a place for parents of LMBBS
http://www.combose.com/Health/Conditions_and_Diseases/Neurological_Disorders/Bra
Top Health Conditions and Diseases Neurological Disorders ... Bardet-Biedl Syndrome
Related links of interest: An autosomal recessive disorder characterized by retinitis pigmentosa; polydactyly; obesity; mental retardation; hypogenitalism; renal dysplasia; and short stature. Help build the largest human-edited directory on the web.

38. Bardet-Biedl Syndrome
bardetbiedl syndrome. Scientific Information.
http://www.ex.ac.uk/diabetesgenes/rarediabetes/types/bardetbiedl.htm
Bardet-Biedl Syndrome
Scientific Information

39. NEJM -- The Cardinal Manifestations Of Bardet-Biedl Syndrome, A Form Of Laurence
Next Next. The cardinal manifestations of bardetbiedl syndrome, a form of Laurence-Moon-Biedl syndrome. The oligogenic properties of bardet-biedl syndrome.
http://content.nejm.org/cgi/content/short/321/15/1002
HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Please sign in for full text and personal services Previous Volume 321:1002-1009 October 12, 1989 Number 15 Next The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome
JS Green, PS Parfrey, JD Harnett, NR Farid, BC Cramer, G Johnson, O Heath, PJ McManamon, E O'Leary, and W Pryse-Phillips
Add to Personal Archive
Add to Citation Manager Notify a Friend E-mail When Cited ... PubMed Citation Abstract
Source Information Department of Community Medicine, Memorial University, St. John's, Newfoundland, Canada.
This article has been cited by other articles:
  • SHEFFIELD, V. C. (2004). Use of Isolated Populations in the Study of a Human Obesity Syndrome, the Bardet-Biedl Syndrome. Pediatr Res [Abstract] [Full Text]
  • Katsanis, N. (2004). The oligogenic properties of Bardet-Biedl syndrome. Hum Mol Genet [Abstract] [Full Text]
  • Rahman, P., Jones, A., Curtis, J., Bartlett, S., Peddle, L., Fernandez, B. A., Freimer, N. B. (2003). The Newfoundland population: a unique resource for genetic investigation of complex diseases. Hum Mol Genet [Abstract] [Full Text]
  • Badano, J. L., Kim, J. C., Hoskins, B. E., Lewis, R. A., Ansley, S. J., Cutler, D. J., Castellan, C., Beales, P. L., Leroux, M. R., Katsanis, N. (2003). Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.

40. Researchers Identify First Gene Responsible For Bardet-Biedl Syndrome
713798-4712 pa@bcm.tmc.edu. Researchers identify first gene responsible for bardet-biedl syndrome. HOUSTON(Sept. 1, 2000)The
http://www.bcm.tmc.edu/pa/bbs.htm

pa@bcm.tmc.edu
Researchers identify first gene responsible for Bardet-Biedl Syndrome HOUSTON(Sept. 1, 2000)The first gene linked to a complex disorder called Bardet-Biedl syndrome could provide clues to health problems in the general population, including obesity, kidney disease, blindness, and mental retardation. In the September issue of the scientific journal Nature Genetics , an international team of investigators, led by Baylor College of Medicine's Drs. Nicholas Katsanis, Richard A. Lewis and James R. Lupski, identify the first of at least six genes responsible for the syndrome. BBS is a rare medical condition initially characterized by extra fingers and toes, profound weight gain as early as 6 to 7 months of age, and vision problems by age 6 or 7. "Finding the genetic cause of BBS has been extremely challenging," said Katsanis, with the department of molecular and human genetics. "Although 5 BBS loci, or locations of a gene within the human genome, have been reported, we had been unable to identify a specific gene." After years of research, identification of the gene eluded researchers until the recent announcement of a gene responsible for McKursick-Kaufman Syndrome, another rare disorder that shares a number of similarities with BBS.

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