Medical genetics: An illustrated outline

Por Sheffield, Val C.
Publicado em 1990

The Blind Leading the Obese: The Molecular Pathophysiology of a Human Obesity Syndrome

Por Sheffield, Val C.
Publicado em 2010

A Constrained-Likelihood Approach to Marker-Trait Association Studies

Por Wang, Kai , Sheffield, Val C. 
Publicado em 2005

The molecular genetics of eye diseases

Por Haines, Jonathan L., Sheffield, Val C.
Publicado no Hum Mol Genet (2017)

Evaluation of Embryonic and Perinatal Myosin Gene Mutations and the Etiology of Congenital Idiopathic Clubfoot

Por Shyy, William, Wang, Kai, Sheffield, Val C., Morcuende, Jose A.
Publicado em 2010

Absence of BBSome function leads to astrocyte reactivity in the brain

Por Singh, Minati, Garrison, Janelle E., Wang, Kai, Sheffield, Val C.
Publicado no Mol Brain (2019)

The absence of BBSome function decreases synaptogenesis and causes ectopic synapse formation in the retina

Por Hsu, Ying, Garrison, Janelle E., Seo, Seongjin, Sheffield, Val C.
Publicado no Sci Rep (2020)

Contrasting vascular effects caused by loss of Bardet-Biedl syndrome genes

Por Beyer, Andreas M., Guo, Deng-Fu, Sheffield, Val C., Rahmouni, Kamal
Publicado em 2010

BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes

Por Zhang, Qihong, Seo, Seongjin, Bugge, Kevin, Stone, Edwin M., Sheffield, Val C.
Publicado em 2012

Intrinsic Protein-Protein Interaction-mediated and Chaperonin-assisted Sequential Assembly of Stable Bardet-Biedl Syndrome Protein Complex, the BBSome

Por Zhang, Qihong, Yu, Dahai, Seo, Seongjin, Stone, Edwin M., Sheffield, Val C.
Publicado em 2012

Genotypic and phenotypic characterization of the Sdccag8(Tn(sb-Tyr)2161B.CA1C2Ove) mouse model

Por Weihbrecht, Katie, Goar, Wesley A., Carter, Calvin S., Sheffield, Val C., Seo, Seongjin
Publicado no PLoS One (2018)

Evaluation of CAND2 and WNT7a as Candidate Genes for Congenital Idiopathic Clubfoot

Por Shyy, William, Dietz, Frederick, Dobbs, Matthew B., Sheffield, Val C., Morcuende, Jose A.
Publicado em 2009

Classical and melanopsin photoreception in irradiance detection: negative masking of locomotor activity by light

Por Thompson, Stewart, Foster, Russell G., Stone, Edwin M., Sheffield, Val C., Mrosovsky, N.
Publicado em 2008

Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration

Por Pretorius, Pamela R., Aldahmesh, Mohammed A., Alkuraya, Fowzan S., Sheffield, Val C., Slusarski, Diane C.
Publicado em 2011

Germline mosaic transmission of a novel duplication of PXDN and MYT1L to two male half-siblings with autism

Por Meyer, Kacie J., Axelsen, Michael S., Sheffield, Val C., Patil, Shivanand R., Wassink, Thomas H.
Publicado em 2012

Cartilage Abnormalities Associated with Defects of Chondrocytic Primary Cilia in Bardet-Biedl Syndrome Mutant Mice

Por Kaushik, Anjan P., Martin, James A., Zhang, Qihong, Sheffield, Val C., Morcuende, Jose A.
Publicado em 2009

Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling

Por Seo, Seongjin, Guo, Deng-Fu, Bugge, Kevin, Morgan, Donald A., Rahmouni, Kamal, Sheffield, Val C.
Publicado em 2009

Transforming growth factor β2 (TGFβ2) signaling plays a key role in glucocorticoid-induced ocular hypertension

Por Kasetti, Ramesh B., Maddineni, Prabhavathi, Patel, Pinkal D., Searby, Charles, Sheffield, Val C., Zode, Gulab S.
Publicado no J Biol Chem (2018)

Inactivation of Bardet-Biedl syndrome genes causes kidney defects

Por Guo, Deng-Fu, Beyer, Andreas M., Yang, Baoli, Nishimura, Darryl Y., Sheffield, Val C., Rahmouni, Kamal
Publicado em 2011

Primary Ciliary Dyskinesia Caused by Homozygous Mutation in DNAL1, Encoding Dynein Light Chain 1

Por Mazor, Masha, Alkrinawi, Soliman, Chalifa-Caspi, Vered, Manor, Esther, Sheffield, Val C., Aviram, Micha, Parvari, Ruti
Publicado em 2011