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bardet-biedl syndrome Pages on BioPortfolio:

BioPortfolio - Bardet-Biedl Syndrome - InDepth
View the current Bardet-Biedl Syndrome InDepth page on BioPortfolio.com ... A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family.
...
http://www.bioportfolio.com/indepth/Bardet-Biedl_Syndrome.pd...

BioPortfolio - BBS1 - Bardet-Biedl syndrome 1
Bardet-biedl syndrome: an atypical phenotype in brothers with a proven BBS1 ... Genetic interaction between Bardet-Biedl syndrome genes and implications for ...
http://www.bioportfolio.com/gene/582-BBS1.html...

BioPortfolio - BBS12 - Bardet-Biedl syndrome 12
Bardet-Biedl syndrome (BBS) is primarily an autosomal recessive ciliopathy. ... Defects in BBS12 are the cause of Bardet-Biedl syndrome type 12. ...
http://www.bioportfolio.com/gene/166379-BBS12.html...

BioPortfolio - BBS2 - Bardet-Biedl syndrome 2
Loss of Bardet-Biedl syndrome proteins alters the morphology and function ... Defects in BBS7 are a cause of Bardet-Biedl syndrome type 7 (BBS7) which is a
...
http://www.bioportfolio.com/gene/583-BBS2.html...

BioPortfolio - lawrence moon syndrome causes treatment
A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family. ... The Laurence-Moon-Bardet-Biedl syndrome: unresponsiveness to the action ...
http://www.bioportfolio.com/search/lawrence_moon_syndrome_ca...

BioPortfolio - bardet biedl syndrome 2008
A case diagnosed as Bardet-Biedl syndrome with polydactyly and. ... Recent Search Terms used to find this page: bardet biedl syndrome 2008 . ...
http://www.bioportfolio.com/search/bardet_biedl_syndrome_200...

BioPortfolio - Bardet-Biedl Syndrome
Bardet-Biedl Syndrome - BioPortfolio - Indepth. ... A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family. ...
http://www.bioportfolio.com/indepth/Bardet-Biedl_Syndrome.ht...

BioPortfolio - Polydactyly - InDepth
A case diagnosed as Bardet-Biedl syndrome with polydactyly and...25th October, 2008. Plastic and Reconstructive Surgery Clinic, Gaziantep Avukat Cengiz ...
http://www.bioportfolio.com/indepth/Polydactyly.pdf...

BioPortfolio - Saudi Aramco Medical Services Organization
Hydrometrocolpos and acute renal failure: a rare neonatal presentation of Bardet -Biedl syndrome. The presence of hydrometrocolpos and postaxial polydactyly ...
http://www.bioportfolio.com/biocorporate/9181-Saudi+Aramco+M...

BioPortfolio - BBS4 - Bardet-Biedl syndrome 4
BACKGROUND/AIM: Bardet-Biedl syndrome is a multi-organ disease presenting. ... Bardet-Biedl syndrome (BBS) is a hereditary disorder whose symptoms. ...
http://www.bioportfolio.com/gene/585-BBS4.html...

Results from other life science and pharmaceutical sites:

OMIM - BARDET-BIEDL SYNDROME; BBS
MIM #209900 · Text · Clinical Features · Inheritance · Heterogeneity · Genotype/ Phenotype Correlations · Mapping · Population Genetics · Pathogenesis ...
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=209900...

Laurence Moon Bardet Biedl Syndrome
Lauurence Moon Bardet Biedl Syndrome Resources, international support groups, clinics, genetic counselors and geneticists.
http://www.kumc.edu/gec/support/laurmoon.html...

Bardet-Biedl Syndrome -- GeneReviews -- NCBI Bookshelf
6 Mar 2007 ... The visual prognosis for children with Bardet-Biedl syndrome is poor: night blindness is usually evident by seven to eight years of age; ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part...

Open Directory - Health: Conditions and Diseases: Neurological ...
17 Jul 2008 ... The CaF Directory - Information about Laurence-moon-bardet-biedl syndrome, its symptoms and inheritance patterns. ...
http://www.dmoz.org/Health/Conditions_and_Diseases/Neurologi...

OMIM - BBS4 GENE; BBS4
MIM *600374 · Cloning · Gene Function · Gene Structure · Mapping · Molecular Genetics · Animal Model · Allelic Variants ...
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600374...

HHMI News: 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. ...
http://www.hhmi.org/news/sheffield3.html...

Triallelic inheritance in Bardet-Biedl syndrome, a...[Science ...
PubMed is a service of the US National Library of Medicine that includes over 18 million citations from MEDLINE and other life science journals for ...
http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=ShowD...

Disruption of Bardet-Biedl syndrome ciliary proteins perturbs ...
Here we show that mice with mutations in genes involved in Bardet-Biedl syndrome (BBS), a disorder associated with ciliary dysfunction3, 4, share phenotypes ...
http://www.nature.com/ng/journal/v37/n10/abs/ng1644.html...

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian ...
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized by multiple clinical features that include pigmentary retinal
dystrophy, ...
http://www.ncbi.nlm.nih.gov/pubmed/11567139...

Bardet−Biedl syndrome is linked to DNA markers on chromosome 11 q ...
Bergsma, D.R. & Brown, K.S. Assessment of ophthalmologic, endocrinologic and genetic findings in the Bardet-Biedl syndrome. Birth Detects: Orig. Art. Ser.
...
http://www.nature.com/ng/journal/v7/n1/abs/ng0594-108.html...

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