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