תוצאות חיפוש

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

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Diastrophic dysplasia: prenatal diagnosis and review of the literature מאת 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 מאת 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 מאת 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 מאת 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 מאת 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. מאת Masahiro Nishijima, C R Raetz

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

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Genetic Factors in Canine Narcolepsy מאת 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 מאת 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 מאת 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 מאת S. Gluecksohn‐Schoenheimer

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Reactivating mutant p53 using small molecules as zinc metallochaperones: awakening a sleeping giant in cancer מאת 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 מאת 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 מאת 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... מאת 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 מאת 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 מאת 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. מאת 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 מאת Niva Parasol, Marion E. Reid, María Rios, Lilian Castilho, Ilana Harari, Nechama S. Kosower

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