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VAL SHEFFIELD, MD, PHD
MD, PHD
Clinical Genetics (M.D.) Physician
NPI: 1437146909Individual
Specialties, Licenses & Credentials
Clinical Genetics (M.D.) PhysicianPrimary
Medical Genetics — Clinical Genetics (M.D.)
Code: 207SG0201X
MD-27730(IA)
Research & Publications (20)
Use of isolated populations in the study of a human obesity syndrome, the Bardet-Biedl syndrome.
PMID 15155861·Pediatr Res·2004
6-review
Evaluation of CAND2 and WNT7a as candidate genes for congenital idiopathic clubfoot.
PMID 19159115·Clin Orthop Relat Res·2009
4-observational
Cartilage abnormalities associated with defects of chondrocytic primary cilia in Bardet-Biedl syndrome mutant mice.
PMID 19195025·J Orthop Res·2009
7-preclinical
Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling.
PMID 19150989·Hum Mol Genet·2009
7-preclinical
Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy.
PMID 18363168·Ophthalmic Genet·2008
8-other
Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia.
PMID 18299575·Proc Natl Acad Sci U S A·2008
7-preclinical
Mutation in the SLC4A11 gene associated with autosomal recessive congenital hereditary endothelial dystrophy in a large Saudi family.
PMID 18363173·Ophthalmic Genet·2008
8-other
Increased expression of the WNT antagonist sFRP-1 in glaucoma elevates intraocular pressure.
PMID 18274669·J Clin Invest·2008
7-preclinical
Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa.
PMID 18779497·Arch Ophthalmol·2008
8-other
Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning.
PMID 18381349·Hum Mol Genet·2008
7-preclinical
Pax6 3' deletion results in aniridia, autism and mental retardation.
PMID 18322702·Hum Genet·2008
5-case
Cortical enlargement in autism is associated with a functional VNTR in the monoamine oxidase A gene.
PMID 18361446·Am J Med Genet B Neuropsychiatr Genet·2008
8-other
Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome.
PMID 18317593·J Clin Invest·2008
7-preclinical
Classical and melanopsin photoreception in irradiance detection: negative masking of locomotor activity by light.
PMID 18412618·Eur J Neurosci·2008
7-preclinical
Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.
PMID 18203199·Am J Med Genet A·2008
8-other
Posterior probability of linkage analysis of autism dataset identifies linkage to chromosome 16.
PMID 18349700·Psychiatr Genet·2008
8-other
A BBSome subunit links ciliogenesis, microtubule stability, and acetylation.
PMID 19081074·Dev Cell·2008
7-preclinical
Transcript annotation prioritization and screening system (TrAPSS) for mutation screening.
PMID 18172923·J Bioinform Comput Biol·2007
8-other
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
Via practice · 5 locations total
- Address
- 2624 Orchard Dr
Cedar Falls, IA 50613 - Phone
- (877) 891-5350
Locations (5)
Practice Location
2624 Orchard Dr, Cedar Falls, IA
(877) 891-5350
Practice Location
777 Mazzuchelli Pl, Dubuque, IA
(877) 891-5350
Practice Location
200 HAWKINS DR, IOWA CITY, IA
(319) 335-6898
Practice Location
8605 Chambery Blvd, Johnston, IA
(877) 891-5350
Practice Location
2901 86th St, Urbandale, IA
(515) 457-2960
Quick Facts
- NPI
- 1437146909
- Entity Type
- Individual
- Gender
- Male
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 5
- Publications
- 20
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