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Muir-Torre Syndrome: case report and molecular characterization door Rios, Carolina Alejandra, Villalón, Ricardo, Muñoz, Jorge, Acuña, Mónica, Cifuentes, Lucía

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Diastrophic dysplasia: prenatal diagnosis and review of the literature door Honório, Jonathan Celli, Bruns, Rafael Frederico, Gründtner, Luciana Fernandes, Raskin, Salmo, Ferrari, Lilian Pereira, Araujo Júnior, Edward, Nardozza, Luciano Marcondes Machado

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Paraganglioma of seminal vesicle and chromophobe renal cell carcinoma: a case report and literature review door Alvarenga, César Augusto, Lopes, José Manuel, Vinagre, João, Paravidino, Paula Itagyba, Alvarenga, Marcelo, Prando, Adilson, Castilho, Lísias Nogueira, Soares, Paula, Billis, Athanase

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Mismatch repair genes in Lynch syndrome: a review door Silva, Felipe Cavalcanti Carneiro da, Valentin, Mev Dominguez, Ferreira, Fábio de Oliveira, Carraro, Dirce Maria, Rossi, Benedito Mauro

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Generation of Deletion and Point Mutations with One Primer in a Single Cloning Step door Olga V. Makarova, Emmanuel Kamberov, Ben Margolis

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TP53 mutations emerge at early phase of myelodysplastic syndrome and are associated with complex chromosomal abnormalities door Hiroto Kaneko, S Misawa, Shigeo Horiike, Hiroyuki Nakai, Kei Kashima

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Membrane lipid biogenesis in Escherichia coli: identification of genetic loci for phosphatidylglycerophosphate synthetase and construction of mutants lacking phosphatidylglycerol. door Masahiro Nishijima, C R Raetz

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Functional Deregulation of KIT door Glenn Cruse, Dean D. Metcalfe, Ana Olivera

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Genetic Factors in Canine Narcolepsy door Arthur S. Foutz, Merrill M. Mitler, Luigi Luca Cavalli-Sforza, William C. Dement

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The mutation patterns in B-cell immunoglobulin receptors reflect the influence of selection acting at multiple time-scales door Gur Yaari, Jennifer I. C. Benichou, Jason A. Vander Heiden, Steven H. Kleinstein, Yoram Louzoun

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Robust gene expression and mutation analyses of RNA-sequencing of formalin-fixed diagnostic tumor samples door Stefan Graw, Richard Meier, Kay Minn, Clark Bloomer, Andrew K. Godwin, Brooke L. Fridley, Anda Vlad, Peter Beyerlein, Jeremy Chien

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THE DEVELOPMENT OF TWO TAILLESS MUTANTS IN THE HOUSE MOUSE door S. Gluecksohn‐Schoenheimer

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Reactivating mutant p53 using small molecules as zinc metallochaperones: awakening a sleeping giant in cancer door Adam R. Blanden, Xin Yu, Stewart N. Loh, Arnold J. Levine, Darren R. Carpizo

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Genetics of congenital heart disease: the contribution of the noncoding regulatory genome door Alex V. Postma, Connie R. Bezzina, Vincent M. Christoffels

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Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel Mutations door Jeannette L. Usher, David B. Ascher, Douglas E. V. Pires, Anna M. Milan, Tom L. Blundell, L. Ranganath

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The Presence of ASXL1 Mutations As Well As a Total Number of Myeloid Driver Mutations Higher Than Two Is Strongly Associated with the Diagnosis of Primary Myelofibrosis As Opposed... door Paulo Vidal Campregher, Ricardo Helman, Welbert Oliveira Pereira, Renato Puga, Bianca Cristina Garcia Lisbôa, Evelyn Helena Ascendino, Mariana Yasue Saito Miyagi, Sandra Nakashima Yoshida, Isabel Bello, Michelli Silva Diniz, Guilherme Fleury Perini, Tarcila Santos Datoguia, Elvira Deolinda Rodrigues Pereira Velloso, Joao Carlos Guerra, Paulo Augusto Achucarro Silveira, Nydia Strachman Bacal, Roberta Cardoso Petroni, Juliane Musacchio, Rodrigo Santucci, Ana Fernandes Schriefer, Marco Aurélio Salvino, Rodolfo Daniel de Almeida Soares, Manuela Pinto Tibúrcio, Leila Martins Perobelli, Eizabeth Xisto Souto, Danielle Leão Cordeiro de Farias, Marcia Higashi, Adriana Valente Fadel, Carolina Kassab, Leandro Padua, Patricia W Bollman, Denise da Cunha Pasqualin, Alanna Mara Pinheiro Sobreira Bezerra, Marinus de Moraes Lima, Erika MM Costa, Vinicius R. P. Mattos, Fernando Ferreira Costa, Nelson Hamerschlak, Fábio Pires de Souza Santos

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POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance door Fernando Bellido, Marta Pineda, Gemma Aiza, Rafael Valdés‐Mas, Matilde Navarro, Diana Puente, Tirso Pons, Sara González, Sílvia Iglesias, Esther Darder, Virgı́nia Piñol, José Luís Soto, Alfonso Valencia, Ignacio Blanco, Miguel Urioste, Joan Brunet, Conxi Lázaro, Gabriel Capellà, Xosé S. Puente, Laura Valle

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Pediatric cancer and Li-Fraumeni/Li-Fraumeni-like syndromes: a review for the pediatrician door Cristina Rossi Giacomazzi, Juliana Giacomazzi, Cristina Brinckmann Oliveira Netto, Patrícia Santos-Silva, Simone Geiger de Almeida Selistre, Ana Luiza Maia, Viviane Ziebell de Oliveira, Suzi Alves Camey, José Roberto Goldim, Patrícia Ashton‐Prolla

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Site-directed point mutations in embryonic stem cells: a gene-targeting tag-and-exchange strategy. door G. Roger Askew, Thomas Doetschman, Jerry B. Lingrel

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A Novel Mutation in the Coding Sequence of the FY*B Allele of the Duffy Chemokine Receptor Gene Is Associated With an Altered Erythrocyte Phenotype door Niva Parasol, Marion E. Reid, María Rios, Lilian Castilho, Ilana Harari, Nechama S. Kosower

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