検索結果 - Sheffield, Val C

Medical genetics: An illustrated outline 著者: Sheffield, Val C.

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The Blind Leading the Obese: The Molecular Pathophysiology of a Human Obesity Syndrome 著者: Sheffield, Val C.

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A Constrained-Likelihood Approach to Marker-Trait Association Studies 著者: Wang, Kai , Sheffield, Val C. 

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The molecular genetics of eye diseases 著者: Haines, Jonathan L., Sheffield, Val C.

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Photoreceptor cilia, in contrast to primary cilia, grant entry to a partially assembled BBSome 著者: Hsu, Ying, Seo, Seongjin, Sheffield, Val C

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Evaluation of Embryonic and Perinatal Myosin Gene Mutations and the Etiology of Congenital Idiopathic Clubfoot 著者: Shyy, William, Wang, Kai, Sheffield, Val C., Morcuende, Jose A.

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Absence of BBSome function leads to astrocyte reactivity in the brain 著者: Singh, Minati, Garrison, Janelle E., Wang, Kai, Sheffield, Val C.

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The absence of BBSome function decreases synaptogenesis and causes ectopic synapse formation in the retina 著者: Hsu, Ying, Garrison, Janelle E., Seo, Seongjin, Sheffield, Val C.

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Contrasting vascular effects caused by loss of Bardet-Biedl syndrome genes 著者: Beyer, Andreas M., Guo, Deng-Fu, Sheffield, Val C., Rahmouni, Kamal

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BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes 著者: Zhang, Qihong, Seo, Seongjin, Bugge, Kevin, Stone, Edwin M., Sheffield, Val C.

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Intrinsic Protein-Protein Interaction-mediated and Chaperonin-assisted Sequential Assembly of Stable Bardet-Biedl Syndrome Protein Complex, the BBSome 著者: Zhang, Qihong, Yu, Dahai, Seo, Seongjin, Stone, Edwin M., Sheffield, Val C.

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Genotypic and phenotypic characterization of the Sdccag8(Tn(sb-Tyr)2161B.CA1C2Ove) mouse model 著者: Weihbrecht, Katie, Goar, Wesley A., Carter, Calvin S., Sheffield, Val C., Seo, Seongjin

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Evaluation of CAND2 and WNT7a as Candidate Genes for Congenital Idiopathic Clubfoot 著者: Shyy, William, Dietz, Frederick, Dobbs, Matthew B., Sheffield, Val C., Morcuende, Jose A.

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Classical and melanopsin photoreception in irradiance detection: negative masking of locomotor activity by light 著者: Thompson, Stewart, Foster, Russell G., Stone, Edwin M., Sheffield, Val C., Mrosovsky, N.

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Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration 著者: Pretorius, Pamela R., Aldahmesh, Mohammed A., Alkuraya, Fowzan S., Sheffield, Val C., Slusarski, Diane C.

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Germline mosaic transmission of a novel duplication of PXDN and MYT1L to two male half-siblings with autism 著者: Meyer, Kacie J., Axelsen, Michael S., Sheffield, Val C., Patil, Shivanand R., Wassink, Thomas H.

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Cartilage Abnormalities Associated with Defects of Chondrocytic Primary Cilia in Bardet-Biedl Syndrome Mutant Mice 著者: Kaushik, Anjan P., Martin, James A., Zhang, Qihong, Sheffield, Val C., Morcuende, Jose A.

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Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling 著者: Seo, Seongjin, Guo, Deng-Fu, Bugge, Kevin, Morgan, Donald A., Rahmouni, Kamal, Sheffield, Val C.

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Transforming growth factor β2 (TGFβ2) signaling plays a key role in glucocorticoid-induced ocular hypertension 著者: Kasetti, Ramesh B., Maddineni, Prabhavathi, Patel, Pinkal D., Searby, Charles, Sheffield, Val C., Zode, Gulab S.

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Inactivation of Bardet-Biedl syndrome genes causes kidney defects 著者: Guo, Deng-Fu, Beyer, Andreas M., Yang, Baoli, Nishimura, Darryl Y., Sheffield, Val C., Rahmouni, Kamal

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