Rezultaty - Consugar, Mark

Transcriptome analyses of the human retina identify unprecedented transcript diversity and 3.5 Mb of novel transcribed sequence via significant alternative splicing and novel genes od Farkas, Michael H, Grant, Gregory R, White, Joseph A, Sousa, Maria E, Consugar, Mark B, Pierce, Eric A

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Investigation of Primary Cilia in the Pathogenesis of Biliary Atresia od Hartley, Jane L., O'Callaghan, Christopher, Rossetti, Sandro, Consugar, Mark, Ward, Christopher J., Kelly, Deirdre A., Harris, Peter C.

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Serum molecular signature for proliferative diabetic retinopathy in Saudi patients with type 2 diabetes od Pan, Jianbo, Liu, Sheng, Farkas, Michael, Consugar, Mark, Zack, Donald J., Kozak, Igor, Arevalo, J. Fernando, Pierce, Eric, Qian, Jiang, Al Kahtani, Eman

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Mitochondrial Disease Genetic Diagnostics: Optimized whole-exome analysis for all MitoCarta nuclear genes and the mitochondrial genome od Falk, Marni J., Pierce, Eric A., Consugar, Mark, Xie, Michael H., Guadalupe, Moraima, Hardy, Owen, Rappaport, Eric F., Wallace, Douglas C., LeProust, Emily, Gai, Xiaowu

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A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression od Falk, Marni J., Gai, Xiaowu, Shigematsu, Megumi, Vilardo, Elisa, Takase, Ryuichi, McCormick, Elizabeth, Christian, Thomas, Place, Emily, Pierce, Eric A., Consugar, Mark, Gamper, Howard B., Rossmanith, Walter, Hou, Ya-Ming

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Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease od Rossetti, Sandro, Kubly, Vickie J., Consugar, Mark B., Hopp, Katharina, Roy, Sushmita, Horsley, Sharon W., Chauveau, Dominique, Rees, Lesley, Barratt, T. Martin, Hoff, William G. van't, Niaudet, W. Patrick, Torres, Vicente E., Harris, Peter C.

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Targeted Exon Sequencing in Usher Syndrome Type I od Bujakowska, Kinga M., Consugar, Mark, Place, Emily, Harper, Shyana, Lena, Jaclyn, Taub, Daniel G., White, Joseph, Navarro-Gomez, Daniel, Weigel DiFranco, Carol, Farkas, Michael H., Gai, Xiaowu, Berson, Eliot L., Pierce, Eric A.

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B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis od Hopp, Katharina, Heyer, Christina M., Hommerding, Cynthia J., Henke, Susan A., Sundsbak, Jamie L., Patel, Shail, Patel, Priyanka, Consugar, Mark B., Czarnecki, Peter G., Gliem, Troy J., Torres, Vicente E., Rossetti, Sandro, Harris, Peter C.

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Evidence of a third ADPKD locus is not supported by reanalysis of designated PKD3 families od Paul, Binu M., Consugar, Mark B., Lee, Moonnoh Ryan, Sundsbak, Jamie L., Heyer, Christina M., Rossetti, Sandro, Kubly, Vickie J., Hopp, Katharina, Torres, Vicente E., Coto, Eliecer, Clementi, Maurizio, Bogdanova, Nadja, de Almeida, Edgar, Bichet, Daniel G., Harris, Peter C.

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Whole Exome Sequencing Identification of Novel Candidate Genes in Patients with Proliferative Diabetic Retinopathy od Ung, Cindy, Sanchez, Angie V., Shen, Lishuang, Davoudi, Samaneh, Ahmadi, Tina, Navarro-Gomez, Daniel, Chen, Ching J., Hancock, Heather, Penman, Alan, Hoadley, Suzanne, Consugar, Mark, Restrepo, Carlos, Shah, Vinay A., Arboleda-Velasquez, Joseph F., Sobrin, Lucia, Gai, Xiaowu, Kim, Leo A.

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A Novel Mutation of LAMB2 in a Multi-Generational Mennonite Family Reveals a New Phenotypic Variant of Pierson Syndrome od Mohney, Brian G., Pulido, Jose S., Lindor, Noralane M., Hogan, Marie C., Consugar, Mark B., Peters, Justin, Pankratz, V. Shane, Nasr, Samih H., Smith, Stephen J., Gloor, James, Kubly, Vickie, Spencer, Dorothy, Nielson, Rebecca, Puffenberger, Erik G., Strauss, Kevin A., Morton, D. Holmes, Eldahdah, Lama, Harris, Peter C.

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Panel-based Genetic Diagnostic Testing for Inherited Eye Diseases is Highly Accurate and Reproducible and More Sensitive for Variant Detection Than Exome Sequencing od Consugar, Mark B., Navarro-Gomez, Daniel, Place, Emily M., Bujakowska, Kinga M., Sousa, Maria E., Fonseca-Kelly, Zoë D., Taub, Daniel G., Janessian, Maria, Wang, Dan Yi, Au, Elizabeth D., Sims, Katherine B., Sweetser, David A., Fulton, Anne B., Liu, Qin, Wiggs, Janey L., Gai, Xiaowu, Pierce, Eric A.

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USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis od Barca, Emanuele, Ganetzky, Rebecca D, Potluri, Prasanth, Juanola-Falgarona, Marti, Gai, Xiaowu, Li, Dong, Jalas, Chaim, Hirsch, Yoel, Emmanuele, Valentina, Tadesse, Saba, Ziosi, Marcello, Akman, Hasan O, Chung, Wendy K, Tanji, Kurenai, McCormick, Elizabeth M, Place, Emily, Consugar, Mark, Pierce, Eric A, Hakonarson, Hakon, Wallace, Douglas C, Hirano, Michio, Falk, Marni J

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Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome od Consugar, Mark B., Wong, Wai C., Lundquist, Patrick A., Rossetti, Sandro, Kubly, Vickie J., Walker, Denise L., Rangel, Laureano J., Aspinwall, Richard, Niaudet, W. Patrick, Özen, Seza, David, Albert, Velinov, Milen, Bergstralh, Eric J., Bae, Kyongtae T., Chapman, Arlene B., Guay-Woodford, Lisa M., Grantham, Jared J., Torres, Vicente E., Sampson, Julian R., Dawson, Brian D., Harris, Peter C.

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Mutations in IFT172 cause isolated retinal degeneration and Bardet–Biedl syndrome od Bujakowska, Kinga M., Zhang, Qi, Siemiatkowska, Anna M., Liu, Qin, Place, Emily, Falk, Marni J., Consugar, Mark, Lancelot, Marie-Elise, Antonio, Aline, Lonjou, Christine, Carpentier, Wassila, Mohand-Saïd, Saddek, den Hollander, Anneke I., Cremers, Frans P.M., Leroy, Bart P., Gai, Xiaowu, Sahel, José-Alain, van den Born, L. Ingeborgh, Collin, Rob W.J., Zeitz, Christina, Audo, Isabelle, Pierce, Eric A.

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NMNAT1 mutations cause Leber congenital amaurosis od Falk, Marni J, Zhang, Qi, Nakamaru-Ogiso, Eiko, Kannabiran, Chitra, Fonseca-Kelly, Zoe, Chakarova, Christina, Audo, Isabelle, Mackay, Donna S, Zeitz, Christina, Borman, Arundhati Dev, Staniszewska, Magdalena, Shukla, Rachna, Palavalli, Lakshmi, Mohand-Said, Saddek, Waseem, Naushin H, Jalali, Subhadra, Perin, Juan C, Place, Emily, Ostrovsky, Julian, Xiao, Rui, Bhattacharya, Shomi S, Consugar, Mark, Webster, Andrew R, Sahel, José-Alain, Moore, Anthony T, Berson, Eliot L, Liu, Qin, Gai, Xiaowu, Pierce, Eric A.

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Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy od Gai, Xiaowu, Ghezzi, Daniele, Johnson, Mark A., Biagosch, Caroline A., Shamseldin, Hanan E., Haack, Tobias B., Reyes, Aurelio, Tsukikawa, Mai, Sheldon, Claire A., Srinivasan, Satish, Gorza, Matteo, Kremer, Laura S., Wieland, Thomas, Strom, Tim M., Polyak, Erzsebet, Place, Emily, Consugar, Mark, Ostrovsky, Julian, Vidoni, Sara, Robinson, Alan J., Wong, Lee-Jun, Sondheimer, Neal, Salih, Mustafa A., Al-Jishi, Emtethal, Raab, Christopher P., Bean, Charles, Furlan, Francesca, Parini, Rossella, Lamperti, Costanza, Mayr, Johannes A., Konstantopoulou, Vassiliki, Huemer, Martina, Pierce, Eric A., Meitinger, Thomas, Freisinger, Peter, Sperl, Wolfgang, Prokisch, Holger, Alkuraya, Fowzan S., Falk, Marni J., Zeviani, Massimo

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