41. Bardet Biedl Syndrome Type II. bardetbiedl syndrome, TYPE 2; BBS2. Type III. bardet-biedl syndrome,TYPE 3; BBS3. Type IV. bardet-biedl syndrome, TYPE 4; BBS4 http://www.bdid.com/bardet.htm

HOME Bardet Biedl Syndrome Bardet-Biedl Syndrome Bardet Biedl Syndrome (Has Photos) Bardet-Biedl Syndrome Also see Laurence Moon Bardet Biedl Syndrome Type I BARDET-BIEDL SYNDROME, TYPE 1; BBS1 Type II BARDET-BIEDL SYNDROME, TYPE 2; BBS2 Type III BARDET-BIEDL SYNDROME, TYPE 3; BBS3 Type IV BARDET-BIEDL SYNDROME, TYPE 4; BBS4 HOME

42. Bardet-Biedl Syndrome Topic - Unified Search Environment MTH/MM/U009322 MTH/MM/U009323 MSH/PM/D020788 MTH/PT/125 LaurenceMoon-Bardet-BiedlSyndrome MSH/EP/D020788 MSH/PM/D020788 MSH/PM/D020788 http://www.use.hcn.com.au/portals/shared/subject.`Bardet-Biedl Syndrome`/home.ht

Bardet-Biedl Syndrome Topic Tree Definition: An autosomal recessive disorder characterized by RETINITIS PIGMENTOSA; POLYDACTYLY; OBESITY; MENTAL RETARDATION; hypogenitalism; renal dysplasia; and short stature. This syndrome has been distinguished as a separate entity from LAURENCE-MOON SYNDROME. (From J Med Genet 1997 Feb;34(2):92-8) Synonyms and Source Vocabularies: Bardet-Biedl Syndrome Laurence-Moon-Bardet-Biedl Syndrome Congenital Abnormality Abnormalities, Drug-Induced Abnormalities, Multiple Basal Cell Nevus Syndrome Beckwith-Wiedemann Syndrome Bloom Syndrome Cockayne Syndrome ... Congenital neurologic anomalies

43. Bardet-Biedl Syndrome (BBS) What causes bardetbiedl syndrome? How is Bardet-Biedl treated? Bardet-Biedlsyndrome is a rare genetic disorder that affects the brain and can cause 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?

44. HHMI News: First Bardet-Biedl Syndrome Gene Identified First bardetbiedl syndrome Gene Identified. Researchers have pinpointed a genemutation that causes bardet-biedl syndrome (BBS), a rare genetic disorder http://www.hhmi.org/news/sheffield3.html

Human Brain Is Still Evolving One Shot: Researchers Capture Pictures of Fusion Events That Enable Sperm to Penetrate Egg's Coating Human Y Chromosome Preserves Itself Better Than the Chimp Y More August 28, 2000 First Bardet-Biedl Syndrome Gene Identified Researchers have pinpointed a gene mutation that causes Bardet-Biedl syndrome (BBS), a rare genetic disorder that can lead to mental retardation. "BBS is a relatively rare disorder, but it has an interesting constellation of features, including obesity, mental retardation, polydactyly [additional digits], genital abnormalities and retinitis pigmentosa, which can lead to blindness," said Val C. Sheffield of the Howard Hughes Medical Institute at the University of Iowa. "One reason we are studying BBS is that it might give insight into obesity and other common disorders." Val C. Sheffield The discovery by Anne M. Slavotinek and Leslie G. Biesecker at the National Human Genome Research Institutes, Sheffield and colleagues at the University of Iowa and a number of other institutions is reported in the September 2000 issue of the journal Nature Genetics.

45. Bardet-Biedl Syndrome bardetbiedl syndrome (BBS) is an autosomal recessive genetic disorder with theprimary Lifting the lid on Pandora s box the bardet-biedl syndrome. http://www.humpath.com/article.php3?id_article=977

46. Arch Ophthalmol -- Abstract: The Phenotype In Norwegian Patients With Bardet-Bie bardetbiedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formationbut not global cilia assembly Mykytyn et al. Proc. Natl. Acad. Sci. http://archopht.ama-assn.org/cgi/content/abstract/120/10/1364

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 120 No. 10, October 2002 Featured Link E-mail Alerts Ophthalmic Molecular Genetics Article Options Full text PDF Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Riise R Sheffield VC Articles that cite this article ISI Web of Science (3) ... Contact me when this article is cited Topic Collections Genetics Genetic Disorders Ophthalmological Disorders, Other Topic Collection Alerts The Phenotype in Norwegian Patients With Bardet-Biedl Syndrome With Mutations in the Gene Ruth Riise, MD, PhD Kristina Tornqvist, MD, PhD Alan F. Wright, MB, PhD Kirk Mykytyn, PhD Val C. Sheffield, MD, PhD Arch Ophthalmol. To describe the phenotype of the Bardet-Biedl syndrome in patients with mutations in the gene.

47. Arch Ophthalmol -- Abstract: A Family With The Bardet-Biedl Syndrome And Diabete New criteria for improved diagnosis of bardetbiedl syndrome results of a population Intrafamilial variation of the phenotype in bardet-biedl syndrome http://archopht.ama-assn.org/cgi/content/abstract/107/6/855

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 107 No. 6, June 1989 Featured Link E-mail Alerts ARTICLE Article Options Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Escallon F Infante R Articles that cite this article Contact me when this article is cited A family with the Bardet-Biedl syndrome and diabetes mellitus F. Escallon, E. I. Traboulsi and R. Infante Department of Ophthalmology, Children's Hospital National Medical Center, Washington, DC. We studied a family with the Bardet-Biedl syndrome and diabetes mellitus. Two affected brothers and one affected sister were examined. Two older sisters with stigmata of the syndrome had died of unclear causes. The 18-year-old brother was obese, was mentally retarded, and had pigmentary

48. OMIM - BARDET-BIEDL SYNDROME; BBS http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=209900

49. Entrez PubMed bardetbiedl syndrome (BBS) is a genetically heterogeneous disorder characterizedby multiple clinical features that include pigmentary retinal dystrophy, http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

50. Mutations In MKKS Cause Bardet-Biedl Syndrome - Nature Genetics bardetbiedl syndrome (BBS) is an autosomal recessive disorder with locusheterogeneity5, 6, 7, 8, 9. None of the responsible genes have previously been http://www.nature.com/ng/journal/v26/n1/full/ng0900_15.html

@import "/ng/style.css"; NATURE.COM NEWS@NATURE.COM NATUREJOBS NATUREEVENTS ... Help E-MAIL: PASSWORD: Save password Forgotten password? SEARCH JOURNAL Advanced search Journal home Archive Table of Contents ... For librarians NPG Resources Nature Nature Cell Biology Nature Medicine Nature Reviews Genetics ... Browse all publications Brief Communication Nature Genetics doi:10.1038/79116 Mutations in MKKS cause Bardet-Biedl syndrome Anne M. Slavotinek , Edwin M. Stone , Kirk Mykytyn , John R. Heckenlively , Jane S. Green , Elise Heon , Maria A. Musarella , Patrick S. Parfrey , Val C. Sheffield Genetic Diseases Research Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA. Department of Ophthalmology, University of Iowa, Iowa City, Iowa, USA. Howard Hughes Medical Institute and Department of Pediatrics, University of Iowa, Iowa City, Iowa, USA. Department of Ophthalmology, Harbor-UCLA Medical Center , Torrance, California, USA. Faculty of Medicine, Memorial University, St. Johns , Newfoundland, Canada. Department of Ophthalmology and Vision Science Research Program, University of Toronto, Toronto, Canada. Long Island College Hospital, Brooklyn, New York, USA.

51. Identification Of The Gene (BBS1) Most Commonly Involved In Bardet-Biedl Syndrom bardetbiedl syndrome (BBS, OMIM 209900) is a genetic disorder with the primaryfeatures of obesity, pigmentary retinopathy, polydactyly, http://www.nature.com/ng/journal/v31/n4/abs/ng935.html

@import "/ng/style.css"; NATURE.COM NEWS@NATURE.COM NATUREJOBS NATUREEVENTS ... Help E-MAIL: PASSWORD: Save password Forgotten password? SEARCH JOURNAL Advanced search Journal home Archive Table of Contents ... For librarians NPG Resources Nature Nature Cell Biology Nature Medicine Nature Reviews Genetics ... Browse all publications Letter Nature Genetics Identification of the gene ( ) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome Kirk Mykytyn , Darryl Y. Nishimura , Charles C. Searby , Mythreyi Shastri , Hsan-jan Yen , John S. Beck , Terry Braun , Luan M. Streb , Alberto S. Cornier , Gerald F. Cox , Anne B. Fulton , Rivka Carmi , Settara C. Chandrasekharappa , Francis S. Collins , Samuel G. Jacobson , John R. Heckenlively , Richard G. Weleber , Edwin M. Stone Department of Pediatrics, Division of Medical Genetics and the Howard Hughes Medical Institute, University of Iowa, Iowa City, Iowa 52242, USA. Department of Electrical Engineering, University of Iowa, Iowa City, Iowa 52242, USA. Department of Ophthalmology, University of Iowa, Iowa City, Iowa 52242, USA. Department of Biochemistry, Ponce School of Medicine, Ponce, Puerto Rico.

52. Faculty Of 1000 Biology | Triallelic Inheritance In Bardet-Biedl Syndrome, A Men Triallelic inheritance in bardetbiedl syndrome, a Mendelian recessive disorder.Katsanis N, Ansley SJ, , Beales PL, Lupski JR http://www.f1000biology.com/article/11567139

Subscription Info Institutional Access Free Trial F1000 walkthrough ... About F1000 Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. Katsanis N, Ansley SJ, ..., Beales PL, Lupski JR Science 2001 Sep 21 "This paper describes the screening of the BBS2 gene in..." Evaluated by Faculty of 1000 Biology member Darryl Nishimura (University of Iowa, United States) To see the full evaluation, choose from the options below: Faculty of 1000 Biology Essential, rapid post-publication evaluation of the most important papers in biology by over 1900 of the world's top scientists [see a sample evaluation You can: Customize the site and receive tailored e-mail alerts [ more "This is really going to help busy scientists find the gems amongst the mounds of rubble!" Keith Roberts (John Innes Centre, UK) Personal access Existing subscribers Log in here E-mail Password Free 7 day trial Subscribe Institutional access Recommend to your librarian 80% of the world's top institutions subscribe! Log in via Athens If you are registered and have trouble logging in, email us:

53. Bardet-Biedl Syndrome Intrafamilial variation of the phenotype in bardetbiedl syndrome Intrafamilialvariation of Exploring the molecular basis of bardet-biedl syndrome http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=449

54. Bardet-Biedl Syndrome bardetbiedl syndrome. BBS. Laurence-Moon-bardet-biedl syndrome Renal cancerand malformations in relatives of patients with bardet-biedl syndrome http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?offset=15&cat3=44

55. Analysis Of Bardet-Biedl Syndrome 5 Disease mapped bardetbiedl syndrome 5 Chromosome 2 Genomic position start-stop170000001-186000000 Bardet-Biedl tw AND syndrome tw AND 5 tw http://www.bork.embl-heidelberg.de/g2d/exam_disease.pl?U428

56. Analysis Of Bardet-Biedl Syndrome 2 Disease mapped bardetbiedl syndrome 2 Chromosome 16 Genomic position start-stop65000000-75000001 Bardet-Biedl tw AND syndrome tw AND 2 tw http://www.bork.embl-heidelberg.de/g2d/exam_disease.pl?U583

57. Penn State Faculty Research Expertise Database (FRED) , An autosomal recessive disorder characterized by Laurence Moon Bardet Biedl Syndrome, Syndrome, Bardet-Biedl......bardetbiedl syndrome. http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D020788

58. BBS1 - Bardet-Biedl Syndrome 1 Protein Identification of a novel bardetbiedl syndrome protein, BBS7, Bardet-Biedlsyndrome is a genetically and clinically heterogeneous disorder caused by http://www.pdg.cnb.uam.es/UniPub/iHOP/gg/86695.html

BBS-1 did not significantly inhibit dimeric nNOS Abstract-9877080 We found 44% of families linked to 11q13 ( ) and 17% linked to 16q21 ( Abstract-972124 BBS-1 inhibited de novo expression of nNOS activity in virus-infected cells at a half-maximal concentration (IC(50)) of 40 +/- 10 nM in a reversible manner. Abstract-9877080 Heterozygous mutations in and have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus. Abstract-9921031 Analyses of 259 independent families segregating a BBS phenotype indicate that participates in complex inheritance and that, in different families, mutations in can interact genetically with mutations at each of the other known BBS genes, as well as at unknown loci, to cause the phenotype. Abstract-9713975 , located on 11q13, is reported to be the most prevalent form of BBS in the Caucasian population. Abstract-8330078 We conclude that is the major locus among white Bardet-Biedl patients and that is extremely rare.

59. BBS2 - Bardet-Biedl Syndrome 2 Protein BBS4 is one of several proteins that cause bardetbiedl syndrome ( BBS), bardet-biedl syndrome ( BBS) is a genetic disorder with the primary features of http://www.pdg.cnb.uam.es/UniPub/iHOP/gg/86696.html

We found 44% of families linked to 11q13 ( ) and 17% linked to 16q21 ( Abstract-972124 The identification of suggests a possible role in cilia function for BBS gene products. Abstract-10419974 The chromosomal localization and expression pattern of suggest that it may be an excellent candidate for families linked to Abstract-1637992 In vitro studies with bombesin and gastrin revealed that the stimulatory effect of bombesin in vivo can for a major part be attributed to other stimulatory mediators which are released by BBS Abstract-7119520 Occludin expression was restored to control state after treatment with BBS or NT Abstract-10205230 Expression of two truncated forms of that are similar to those found in some individuals with BBS had a similar effect on and microtubules Abstract-10206412 Heterozygous mutations in and have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.

60. Retina International's Scientific Newsletter - Bardet Biedl Syndrome Loci Scientific Newsletter Logo, Disease Database Bardet Biedl Syndrome Basal bodydysfunction is a likely cause of pleiotropic bardetbiedl syndrome. http://www.retina-international.com/sci-news/bardet.htm

Disease Database Bardet Biedl Syndrome Recent update from: 11.03.04 Disease Genelocus MIM Gene Gene MIM MoI Assignment Linked Marker [cM] Remarks References BBS Polygenic ar Turns out to be a polygenic disease Triallelic Inheritance by mutations in BBS2, BBS4, BBS6 gene has been shown Synergistic effect of BBS2L1 and BBSL2 type 1 ar PYGM- D11S913 type 2 ar D16S2937- [2.69 cM- D16S408- 441f2-5a3-291f1- D16S2938- D16S673- 55019- 405f3- 152e5D16S3057]- 152e5- 700h13 type 3 ar type 4 ar PDP Bedouin Italian type 5 ar pter- [~39 D2S442- D2S1399- D2S2241- D2S142- D2S418- D2S1353- D2S156- [13 D2S124- D2S330- D2S1776- D2S335- D2S1238]- D2S2314- D2S1391]- qter Inbred Newfoundland family of European ancestry PDP type 6 MKKS ar D20S115- [D20S851- MKKS- D20S189 20 cM]- D20S186 RP Polydactyly Obesity Learning disability Diabetes melitus Renal anomalies type 7 ar type 8 ar MoI = Mode of Inheritance: a: autosomal, ad: autosomal dominant, ar: autosomal recessive, xl: x-linked, mt: mitochondrial References Ansley,S.J., Badano,J.L., Blacque,O.E., Hill,J., Hoskins,B.E., Leitch,C.C., Kim,J.C., Ross,A.J., Eichers,E.R., Teslovich,T.M., Mah,A.K., Johnsen,R.C., Cavender,J.C., Lewis,R.A., Leroux,M.R., Beales,P.L., and Katsanis,N. Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. 2003; Nature. 425: 628-633. Link to PubMed Goto Top Badano,J.L., Ansley,S.J., Leitch,C.C., Lewis,R.A., Lupski,J.R., and Katsanis,N. Identification of a Novel Bardet-Biedl Syndrome Protein, BBS7, That Shares Structural Features with BBS1 and BBS2. 2003; Am.J.Hum.Genet. 72: 650-658.

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