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Mutational analysis

Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome

Morad Ansari, Jacqueline Rainger, Isabel M. Hanson, Kathleen A. Williamson, Freddie Sharkey, Louise Harewood, Angela Sandilands, Jill Clayton-Smith, Helene Dollfus, Pierre Bitoun, Francoise Meire, Judy Fantes, Brunella Franco, Birgit Lorenz, David S. Taylor, Fiona Stewart, Colin E. Willoughby, Meriel McEntagart, Peng Tee Khaw, Carol Clericuzio, Lionel Van Maldergem, Denise Williams, Ruth Newbury-Ecob, Elias I. Traboulsi, Eduardo D. Silva, Mukhlis M. Madlom, David R. Goudie, Brian W. Fleck, Dagmar Wieczorek, Juergen Kohlhase, Alice D. McTrusty, Carol Gardiner, Christopher Yale, Anthony T. Moore, Isabelle Russell-Eggitt, Lily Islam, Melissa Lees, Philip L. Beales, Stephen J. Tuft, Juan B. Solano, Miranda Splitt, Jens Michael Hertz, Trine E. Prescott, Deborah J. Shears, Ken K. Nischal, Martine Doco-Fenzy, Fabienne Prieur, I. Karen Temple, Katherine L. Lachlan, Giuseppe Damante, Danny A. Morrison, Veronica van Heyningen, David R. FitzPatrick

published 28 Apr 2016

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Functional Characterization of Three Concomitant MtDNA LHON Mutations Shows No Synergistic Effect on Mitochondrial Activity

Alberto Cruz-Bermúdez, Ramiro J. Vicente-Blanco, Rosana Hernández-Sierra, Mayte Montero, Javier Alvarez, Mar González Manrique, Alberto Blázquez, Miguel Angel Martín, Carmen Ayuso, Rafael Garesse, Miguel A. Fernández-Moreno

published 19 Jan 2016

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Analysis of PIK3CA Mutations and Activation Pathways in Triple Negative Breast Cancer

Paolo Cossu-Rocca, Sandra Orrù, Maria Rosaria Muroni, Francesca Sanges, Giovanni Sotgiu, Sara Ena, Giovanna Pira, Luciano Murgia, Alessandra Manca, Maria Gabriela Uras, Maria Giuseppina Sarobba, Silvana Urru, Maria Rosaria De Miglio

published 05 Nov 2015

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Functional Analysis of Mutations in Exon 9 of NF1 Reveals the Presence of Several Elements Regulating Splicing

Elisabete Hernández-Imaz, Yolanda Martín, Laura de Conti, German Melean, Ana Valero, Marco Baralle, Concepción Hernández-Chico

published 28 Oct 2015

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Calreticulin Mutations in Myeloproliferative Neoplasms: Comparison of Three Diagnostic Methods

Ji-Hye Park, Margaux Sevin, Selim Ramla, Aurélie Truffot, Tiffany Verrier, Dominique Bouchot, Martine Courtois, Mathilde Bas, Sonia Benali, François Bailly, Bernardine Favre, Julien Guy, Laurent Martin, Marc Maynadié, Serge Carillo, François Girodon

published 26 Oct 2015

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Did α-Synuclein and Glucocerebrosidase Coevolve? Implications for Parkinson’s Disease

James M. Gruschus

published 27 Jul 2015

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Structural Insight into and Mutational Analysis of Family 11 Xylanases: Implications for Mechanisms of Higher pH Catalytic Adaptation

Wenqin Bai, Cheng Zhou, Yueju Zhao, Qinhong Wang, Yanhe Ma

published 10 Jul 2015

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Validation of an Ion Torrent Sequencing Platform for the Detection of Gene Mutations in Biopsy Specimens from Patients with Non-Small-Cell Lung Cancer

Shiro Fujita, Katsuhiro Masago, Jumpei Takeshita, Chiyuki Okuda, Kyoko Otsuka, Akito Hata, Reiko Kaji, Nobuyuki Katakami, Yukio Hirata

published 15 Jun 2015

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Extended RAS and BRAF Mutation Analysis Using Next-Generation Sequencing

Kazuko Sakai, Junji Tsurutani, Takeharu Yamanaka, Azusa Yoneshige, Akihiko Ito, Yosuke Togashi, Marco A. De Velasco, Masato Terashima, Yoshihiko Fujita, Shuta Tomida, Takao Tamura, Kazuhiko Nakagawa, Kazuto Nishio

published 08 May 2015

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Novel ENAM and LAMB3 Mutations in Chinese Families with Hypoplastic Amelogenesis Imperfecta

Xin Wang, Yuming Zhao, Yuan Yang, Man Qin

published 13 Mar 2015

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Mutational Analysis of Angiogenin Gene in Parkinson's Disease

Meng-Ling Chen, Ruey-Meei Wu, Chun-Hwei Tai, Chin-Hsien Lin

published 11 Nov 2014

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Associations of the BRAF^V600E Mutation with Sonographic Features and Clinicopathologic Characteristics in a Large Population with Conventional Papillary Thyroid Carcinoma

Ah Young Park, Eun Ju Son, Jeong-Ah Kim, Ji Hyun Youk, Yun Joo Park, Cheong Soo Park, Hang Seok Chang

published 22 Oct 2014

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Molecular Genetics of the Usher Syndrome in Lebanon: Identification of 11 Novel Protein Truncating Mutations by Whole Exome Sequencing

Ramesh Reddy, Somayyeh Fahiminiya, Elie El Zir, Ahmad Mansour, Andre Megarbane, Jacek Majewski, Rima Slim

published 11 Sep 2014

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