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Nonsense mutation

New Mutations in Chronic Lymphocytic Leukemia Identified by Target Enrichment and Deep Sequencing

Elena Doménech, Gonzalo Gómez-López, Daniel Gzlez-Peña, Mar López, Beatriz Herreros, Juliane Menezes, Natalia Gómez-Lozano, Angel Carro, Osvaldo Graña, David G. Pisano, Orlando Domínguez, José A. García-Marco, Miguel A. Piris, Margarita Sánchez-Beato

published 01 Jun 2012

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Clinical and Functional Characterization of a Patient Carrying a Compound Heterozygous Pericentrin Mutation and a Heterozygous IGF1 Receptor Mutation

Eva Müller, Desiree Dunstheimer, Jürgen Klammt, Daniela Friebe, Wieland Kiess, Jürgen Kratzsch, Tassilo Kruis, Sandy Laue, Roland Pfäffle, Tillmann Wallborn, Peter H. Heidemann

published 31 May 2012

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Analysis of Tp53 Codon 72 Polymorphisms, Tp53 Mutations, and HPV Infection in Cutaneous Squamous Cell Carcinomas

Keith R. Loeb, Maryam M. Asgari, Stephen E. Hawes, Qinghua Feng, Joshua E. Stern, Mingjun Jiang, Zsolt B. Argenyi, Ethel-Michele de Villiers, Nancy B. Kiviat

published 24 Apr 2012

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High Proportion of 22q13 Deletions and SHANK3 Mutations in Chinese Patients with Intellectual Disability

Xiaohong Gong, Yu-wu Jiang, Xin Zhang, Yu An, Jun Zhang, Ye Wu, Jingmin Wang, Yangfei Sun, Yanyan Liu, Xuewu Gao, Yiping Shen, Xiru Wu, Zilong Qiu, Li Jin, Bai-Lin Wu, Hongyan Wang

published 11 Apr 2012

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Fast Homozygosity Mapping and Identification of a Zebrafish ENU-Induced Mutation by Whole-Genome Sequencing

Marianne L. Voz, Wouter Coppieters, Isabelle Manfroid, Ariane Baudhuin, Virginie Von Berg, Carole Charlier, Dirk Meyer, Wolfgang Driever, Joseph A. Martial, Bernard Peers

published 04 Apr 2012

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Response of Methicillin-Resistant Staphylococcus aureus to Amicoumacin A

Amrita Lama, Jan Pané-Farré, Tai Chon, Anna M. Wiersma, Clarissa S. Sit, John C. Vederas, Michael Hecker, Michiko M. Nakano

published 30 Mar 2012

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Screening of MAMLD1 Mutations in 70 Children with 46,XY DSD: Identification and Functional Analysis of Two New Mutations

Nicolas Kalfa, Maki Fukami, Pascal Philibert, Francoise Audran, Catherine Pienkowski, Jacques Weill, Graziella Pinto, Sylvie Manouvrier, Michel Polak, Totsumo Ogata, Charles Sultan

published 30 Mar 2012

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Mutations, Clinical Findings and Survival Estimates in South American Patients with X-Linked Adrenoleukodystrophy

Fernanda dos Santos Pereira, Ursula Matte, Clarissa Troller Habekost, Raphael Machado de Castilhos, Antonette Souto El Husny, Charles Marques Lourenço, Angela M. Vianna-Morgante, Liane Giuliani, Marcial Francis Galera, Rachel Honjo, Chong Ae Kim, Juan Politei, Carmen Regla Vargas, Laura Bannach Jardim

published 29 Mar 2012

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Therapeutic Hemoglobin Levels after Gene Transfer in β-Thalassemia Mice and in Hematopoietic Cells of β-Thalassemia and Sickle Cells Disease Patients

Laura Breda, Carla Casu, Sara Gardenghi, Nicoletta Bianchi, Luca Cartegni, Mohandas Narla, Karina Yazdanbakhsh, Marco Musso, Deepa Manwani, Jane Little, Lawrence B. Gardner, Dorothy A. Kleinert, Eugenia Prus, Eitan Fibach, Robert W. Grady, Patricia J. Giardina, Roberto Gambari, Stefano Rivella

published 27 Mar 2012

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Prostate Cancer Risk Is not Altered by TP53AIP1 Germline Mutations in a German Case-Control Series

Manuel Luedeke, Irina Coinac, Carmen M. Linnert, Natalia Bogdanova, Antje E. Rinckleb, Mark Schrader, Walther Vogel, Josef Hoegel, Andreas Meyer, Thilo Dörk, Christiane Maier

published 23 Mar 2012

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Genome Features of “Dark-Fly”, a Drosophila Line Reared Long-Term in a Dark Environment

Minako Izutsu, Jun Zhou, Yuzo Sugiyama, Osamu Nishimura, Tomoyuki Aizu, Atsushi Toyoda, Asao Fujiyama, Kiyokazu Agata, Naoyuki Fuse

published 14 Mar 2012

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Foxp2 Mutations Impair Auditory-Motor Association Learning

Simone Kurt, Simon E. Fisher, Günter Ehret

published 07 Mar 2012

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Leber Congenital Amaurosis Associated with AIPL1: Challenges in Ascribing Disease Causation, Clinical Findings, and Implications for Gene Therapy

Mei Hong Tan, Donna S. Mackay, Jill Cowing, Hoai Viet Tran, Alexander J. Smith, Genevieve A. Wright, Arundhati Dev-Borman, Robert H. Henderson, Phillip Moradi, Isabelle Russell-Eggitt, Robert E. MacLaren, Anthony G. Robson, Michael E. Cheetham, Dorothy A. Thompson, Andrew R. Webster, Michel Michaelides, Robin R. Ali, Anthony T. Moore

published 06 Mar 2012

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