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STEVEN ANSLEY, MD
MD
Emergency Medicine Physician
NPI: 1851382378Individual
Specialties, Licenses & Credentials
Emergency Medicine PhysicianPrimary
Emergency Medicine
Code: 207P00000X
G38708(CA)
Research & Publications (13)
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.
PMID 15314642·Nat Genet·2004
8-other
Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport.
PMID 15231740·Genes Dev·2004
7-preclinical
The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression.
PMID 15107855·Nat Genet·2004
7-preclinical
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome.
PMID 14520415·Nature·2003
7-preclinical
Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.
PMID 12837689·Hum Mol Genet·2003
8-other
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.
PMID 12677556·Am J Hum Genet·2003
8-other
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.
PMID 12567324·Am J Hum Genet·2003
4-observational
A computational/functional genomics approach for the enrichment of the retinal transcriptome and the identification of positional candidate retinopathy genes.
PMID 12391299·Proc Natl Acad Sci U S A·2002
8-other
BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.
PMID 12016587·Am J Hum Genet·2002
8-other
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.
PMID 11567139·Science·2001
8-other
Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.
PMID 11179009·Am J Hum Genet·2001
8-other
Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome.
PMID 10973251·Nat Genet·2000
8-other
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 2333 BUCHANAN ST
SAN FRANCISCO, CA 94115 - Phone
- (209) 342-2300
Quick Facts
- NPI
- 1851382378
- Entity Type
- Individual
- Gender
- Male
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 13
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