检索结果 - Patel, Pragna I

Friedreich Ataxia: From GAA Triplet–Repeat Expansion to Frataxin Deficiency 由 Patel, Pragna I., Isaya, Grazia

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Overexpression of a truncated human topoisomerase III partially corrects multiple aspects of the ataxia-telangiectasia phenotype 由 Fritz, Eberhard, Elsea, Sarah H., Patel, Pragna I., Meyn, M. Stephen

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Reply to Boylan 由 Wise, Carol A., Garcia, Carlos A., Patel, Pragna I., Lupski, James R.

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Two MspI RFLPs at the D17S258 locus 由 Franco, Brunella, Rincon-Limas, Diego, Nakamura, Yusuke, Patel, Pragna I., Lupski, James R.

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Reciprocal Crossovers and a Positional Preference for Strand Exchange in Recombination Events Resulting in Deletion or Duplication of Chromosome 17p11.2 由 Bi, Weimin, Park, Sung-Sup, Shaw, Christine J., Withers, Marjorie A., Patel, Pragna I., Lupski, James R.

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Novel Missense Mutations and a 288-bp Exonic Insertion in PAX9 in Families With Autosomal Dominant Hypodontia 由 Das, Parimal, Hai, Mehreen, Elcock, Claire, Leal, Suzanne M., Brown, Donald T., Brook, Alan H., Patel, Pragna I.

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Prevalence of common disease-associated variants in Asian Indians 由 Pemberton, Trevor J, Mehta, Niyati U, Witonsky, David, Di Rienzo, Anna, Allayee, Hooman, Conti, David V, Patel, Pragna I

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Using population mixtures to optimize the utility of genomic databases: linkage disequilibrium and association study design in India 由 Pemberton, Trevor J., Jakobsson, Mattias, Conrad, Donald F., Coop, Graham, Wall, Jeffrey D., Pritchard, Jonathan K., Patel, Pragna I., Rosenberg, Noah A.

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Impact of restricted marital practices on genetic variation in an endogamous Gujarati group 由 Pemberton, Trevor J., Li, Fang-Yuan, Hanson, Erin K., Mehta, Niyati U., Choi, Sunju, Ballantyne, Jack, Belmont, John W., Rosenberg, Noah A., Tyler-Smith, Chris, Patel, Pragna I.

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Identification of Novel Genes Expressed During Mouse Tooth Development by Microarray Gene Expression Analysis 由 Pemberton, Trevor J., Li, Fang-Yuan, Oka, Shoji, Mendoza-Fandino, Gustavo A., Hsu, Ya-Hsuan, Bringas, Pablo, Chai, Yang, Snead, Malcolm L., Mehrian-Shai, Ruty, Patel, Pragna I.

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A Mutation in the Canine Gene Encoding Folliculin-Interacting Protein 2 (FNIP2) Associated With a Unique Disruption in Spinal Cord Myelination 由 Pemberton, Trevor J., Choi, Sunju, Mayer, Joshua A., Li, Fang-Yuan, Gokey, Nolan, Svaren, John, Safra, Noa, Bannasch, Danika L., Sullivan, Katrina, Breuhaus, Babetta, Patel, Pragna I., Duncan, Ian D.

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Low Levels of Genetic Divergence across Geographically and Linguistically Diverse Populations from India 由 Rosenberg, Noah A, Mahajan, Saurabh, Gonzalez-Quevedo, Catalina, Blum, Michael G. B, Nino-Rosales, Laura, Ninis, Vasiliki, Das, Parimal, Hegde, Madhuri, Molinari, Laura, Zapata, Gladys, Weber, James L, Belmont, John W, Patel, Pragna I

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The Friedreich Ataxia Critical Region Spans A 150-kb Interval on Chromosome 9q13 由 Montermini, Laura, Rodius, François, Pianese, Luigi, Moltò, Maria Dolores, Cossée, Mireille, Campuzano, Victoria, Cavalcanti, Francesca, Monticelli, Antonella, Palau, Francisco, Gyapay, Gabor, Wenhert, Manfred, Zara, Federico, Patel, Pragna I., Cocozza, Sergio, Koenig, Michel, Pandolfo, Massimo

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A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3 由 Mendoza, Gustavo, Pemberton, Trevor J., Lee, Kwanghyuk, Scarel-Caminaga, Raquel, Mehrian-Shai, Ruty, Gonzalez-Quevedo, Catalina, Ninis, Vasiliki, Hartiala, Jaana, Allayee, Hooman, Snead, Malcolm L., Leal, Suzanne M., Line, Sergio R. P., Patel, Pragna I.

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X-Linked Congenital Hypertrichosis Syndrome Is Associated with Interchromosomal Insertions Mediated by a Human-Specific Palindrome near SOX3 由 Zhu, Hongwen, Shang, Dandan, Sun, Miao, Choi, Sunju, Liu, Qing, Hao, Jiajie, Figuera, Luis E., Zhang, Feng, Choy, Kwong Wai, Ao, Yang, Liu, Yang, Zhang, Xiao-Lin, Yue, Fengzhen, Wang, Ming-Rong, Jin, Li, Patel, Pragna I., Jing, Tao, Zhang, Xue

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The Chicken Frizzle Feather Is Due to an α-Keratin (KRT75) Mutation That Causes a Defective Rachis 由 Ng, Chen Siang, Wu, Ping, Foley, John, Foley, Anne, McDonald, Merry-Lynn, Juan, Wen-Tau, Huang, Chih-Jen, Lai, Yu-Ting, Lo, Wen-Sui, Chen, Chih-Feng, Leal, Suzanne M., Zhang, Huanmin, Widelitz, Randall B., Patel, Pragna I., Li, Wen-Hsiung, Chuong, Cheng-Ming

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Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice 由 Beck, Tyler F., Veenma, Danielle, Shchelochkov, Oleg A., Yu, Zhiyin, Kim, Bum Jun, Zaveri, Hitisha P., van Bever, Yolande, Choi, Sunju, Douben, Hannie, Bertin, Terry K., Patel, Pragna I., Lee, Brendan, Tibboel, Dick, de Klein, Annelies, Stockton, David W., Justice, Monica J., Scott, Daryl A.

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Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice 由 Beck, Tyler F, Veenma, Danielle, Shchelochkov, Oleg A, Yu, Zhiyin, Kim, Bum Jun, Zaveri, Hitisha P, van Bever, Yolande, Choi, Sunju, Douben, Hannie, Bertin, Terry K, Patel, Pragna I, Lee, Brendan, Tibboel, Dick, de Klein, Annelies, Stockton, David W, Justice, Monica J, Scott, Daryl A

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