检索结果 - Lewis, Richard Alan

Cavernous haemangioma of the retina and optic disc. A report of three cases and a review of the literature 由 Lewis, Richard Alan, Cohen, M. Harry, Wise, George N.

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Novel Mutations in Two Saudi Patients with Congenital Retinal Dystrophy 由 Safieh, Leen Abu, Al-Otaibi, Humoud M., Lewis, Richard Alan, Kozak, Igor

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Neuroimaging Aspects of Aicardi Syndrome 由 Hopkins, Bobbi, Sutton, V. Reid, Lewis, Richard Alan, Van den Veyver, Ignatia, Clark, Gary

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Atypical Forms of Incontinentia Pigmenti in Male Individuals Result from Mutations of a Cytosine Tract in Exon 10 of NEMO (IKK-γ) 由 Aradhya, Swaroop, Courtois, Gilles, Rajkovic, Aleks, Lewis, Richard Alan, Levy, Moise, Israël, Alain, Nelson, David L.

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Identification of three novel NHS mutations in families with Nance-Horan syndrome 由 Huang, Kristen M., Wu, Junhua, Brooks, Simon P., Hardcastle, Alison J., Lewis, Richard Alan, Stambolian, Dwight

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Identification of a Novel Bardet-Biedl Syndrome Protein, BBS7, That Shares Structural Features with BBS1 and BBS2 由 Badano, José L., Ansley, Stephen J., Leitch, Carmen C., Lewis, Richard Alan, Lupski, James R., Katsanis, Nicholas

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Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis 由 Wiszniewski, Wojciech, Lewis, Richard Alan, Stockton, David W., Peng, Jianlan, Mardon, Graeme, Chen, Rui, Lupski, James R.

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Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology 由 Craigen, William J, Graham, Brett H, Wong, Lee-Jun, Scaglia, Fernando, Lewis, Richard Alan, Bonnen, Penelope E

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Mutation Survey of Known LCA Genes and Loci in the Saudi Arabian Population 由 Li, Yumei, Wang, Hui, Peng, Jianlan, Gibbs, Richard A., Lewis, Richard Alan, Lupski, James R., Mardon, Graeme, Chen, Rui

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A Genome-Wide Screen for Copy Number Alterations in Aicardi Syndrome 由 Wang, Xiaoling, Sutton, V. Reid, Eble, Tanya, Lewis, Richard Alan, Gunaratne, Preethi, Patel, Ankita, Van den Veyver, Ignatia B.

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Mitochondrial Haplogroups Are Associated With Risk of Neuroretinal Disorder in HIV-Positive Patients 由 Hendrickson, Sher L., Jabs, Douglas A., Van Natta, Mark, Lewis, Richard Alan, Wallace, Douglas C., O’Brien, Stephen J.

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Risk of Cataract in Persons with Cytomegalovirus Retinitis and the Acquired Immune Deficiency Syndrome 由 Kempen, John H., Sugar, Elizabeth A., Lyon, Alice T., Lewis, Richard Alan, Jabs, Douglas A., Heinemann, Murk-Hein, Dunn, James P.

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BBS4 Is a Minor Contributor to Bardet-Biedl Syndrome and May Also Participate in Triallelic Inheritance 由 Katsanis, Nicholas, Eichers, Erica R., Ansley, Stephen J., Lewis, Richard Alan, Kayserili, Hülya, Hoskins, Bethan E., Scambler, Peter J., Beales, Philip L., Lupski, James R.

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Effect of host genetics on CMV retinitis occurrence in patients with AIDS 由 Sezgin, Efe, Jabs, Douglas A., Hendrickson, Sher L., Van Natta, Mark, Zdanov, Alexander, Lewis, Richard Alan, Smith, Michael W., Troyer, Jennifer L., O’ Brien, Stephen J.

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Mutations in the X-Linked Retinitis Pigmentosa Genes RPGR and RP2 Found in 8.5% of Families with a Provisional Diagnosis of Autosomal Dominant Retinitis Pigmentosa 由 Churchill, Jennifer D., Bowne, Sara J., Sullivan, Lori S., Lewis, Richard Alan, Wheaton, Dianna K., Birch, David G., Branham, Kari E., Heckenlively, John R., Daiger, Stephen P.

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Late-Onset Autosomal Dominant Macular Dystrophy with Choroidal Neovascularization and Nonexudative Maculopathy Associated with Mutation in the RDS Gene 由 Khani, Shahrokh C., Karoukis, Athanasios J., Young, Joyce E., Ambasudhan, Rajesh, Burch, Tracy, Stockton, Richard, Lewis, Richard Alan, Sullivan, Lori S., Daiger, Stephen P., Reichel, Elias, Ayyagari, Radha

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Genetic Interaction of BBS1 Mutations with Alleles at Other BBS Loci Can Result in Non-Mendelian Bardet-Biedl Syndrome 由 Beales, Philip L., Badano, Jose L., Ross, Alison J., Ansley, Stephen J., Hoskins, Bethan E., Kirsten, Brigitta, Mein, Charles A., Froguel, Philippe, Scambler, Peter J., Lewis, Richard Alan, Lupski, James R., Katsanis, Nicholas

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Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa 由 Wang, Hui, den Hollander, Anneke I., Moayedi, Yalda, Abulimiti, Abuduaini, Li, Yumei, Collin, Rob W.J., Hoyng, Carel B., Lopez, Irma, Bray, Molly, Lewis, Richard Alan, Lupski, James R., Mardon, Graeme, Koenekoop, Robert K., Chen, Rui

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Generalized Metabolic Bone Disease in Neurofibromatosis Type I 由 Brunetti-Pierri, Nicola, Doty, Stephen B., Hicks, John, Phan, Kelly, Mendoza-Londono, Roberto, Blazo, Maria, Tran, Alyssa, Carter, Susan, Lewis, Richard Alan, Plon, Sharon E., Phillips, William A., Smith, E. O’Brian, Ellis, Kenneth J., Lee, Brendan

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Exome capture sequencing identifies a novel mutation in BBS4 由 Wang, Hui, Chen, Xianfeng, Dudinsky, Lynn, Patenia, Claire, Chen, Yiyun, Li, Yumei, Wei, Yue, Abboud, Emad B., Al-Rajhi, Ali A., Lewis, Richard Alan, Lupski, James R., Mardon, Graeme, Gibbs, Richard A., Perkins, Brian D., Chen, Rui

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