Hakutulokset

Human Structural Variation: Mechanisms of Chromosome Rearrangements Tekijä Brooke Weckselblatt, M. Katharine Rudd

Hae kokoteksti

Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation Tekijä Harrison Brand, Ryan L. Collins, Carrie Hanscom, Jill A. Rosenfeld, Vamsee Pillalamarri, Matthew R. Stone, Fontina Kelley, Tamara Mason, Lauren Margolin, Stacey Eggert, Elyse Mitchell, Jennelle C. Hodge, James F. Gusella, Stephan Sanders, Michael E. Talkowski

Hae kokoteksti

Comparing genomes with rearrangements and segmental duplications Tekijä Mingfu Shao, Bernard M. E. Moret

Hae kokoteksti Hae kokoteksti

Genome-Wide Study of Structural Variants in Bovine Holstein, Montbéliarde and Normande Dairy Breeds Tekijä Mekki Boussaha, Diane Esquerré, Johanna Barbieri, Anis Djari, Alain Pinton, Rabia Letaïef, Gérald Salin, Fréderic Escudié, Alain Roulet, Sébastien Fritz, Franck Samson, Cécile Grohs, Maria Bernard, Christophe Klopp, Didier Boichard, Dominique Rocha

Hae kokoteksti Hae kokoteksti

Analysis of the DNA sequence and duplication history of human chromosome 15 Tekijä Michael C. Zody, Manuel Garber, Ted Sharpe, Sarah Young, Lee Rowen, Keith O'Neill, Charles A. Whittaker, Michael Kamal, Jean L. Chang, Christina A. Cuomo, Ken Dewar, Michael G. FitzGerald, Chinnappa D. Kodira, Anup Madan, Shizhen Qin, Xiaoping Yang, Nissa Abbasi, Amr Abouelleil, Harindra Arachchi, Lida Baradarani, Brian Birditt, Scott Bloom, Toby Bloom, Mark L. Borowsky, Jeremy Burke, Jonathan A. Butler, April Cook, Kurt DeArellano, David DeCaprio, Lester Dorris, Monica Dors, Evan E. Eichler, Reinhard Engels, Jessica Fahey, Peter Fleetwood, Cynthia Friedman, Gary Gearin, Jennifer L. Hall, Grace Hensley, Ericka M. Johnson, C. Jones, Asha Kamat, Amardeep Kaur, Devin P. Locke, Anuradha Madan, Glen Munson, David B. Jaffe, Annie Lui, Pendexter Macdonald, Evan Mauceli, Jerome W. Naylor, Ryan Nesbitt, Robert Nicol, Sinéad B. O'Leary, Amber Ratcliffe, Steven D. Rounsley, Xinwei She, Katherine Sneddon, Sandra Stewart, Carrie Sougnez, Sabrina M. Stone, Kerri Topham, Dascena Vincent, Shunguang Wang, Andrew Zimmer, Bruce W. Birren, Leroy Hood, Eric S. Lander, Chad Nusbaum

Hae kokoteksti Hae kokoteksti

Molecular pathology of schizophrenia: more than one disease process? Tekijä T.J. Crow

Hae kokoteksti Hae kokoteksti

Duplication and Gene Conversion in the Drosophila melanogaster Genome Tekijä Naoki Osada, Hideki Innan

Hae kokoteksti Hae kokoteksti

Tandem Repeats and G-Rich Sequences Are Enriched at Human CNV Breakpoints Tekijä Promita Bose, Karen Hermetz, Karen N. Conneely, M. Katharine Rudd

Hae kokoteksti Hae kokoteksti

Efficient typing of copy number variations in a segmental duplication-mediated rearrangement hotspot using multiplex competitive amplification Tekijä Renqian Du, Chuncheng Lu, Zhengwen Jiang, Shilin Li, Ruixiao Ma, Haijia An, Miaofei Xu, Yu An, Yankai Xia, Jin Li, Xinru Wang, Feng Zhang

Hae kokoteksti Hae kokoteksti

The reference human nuclear mitochondrial sequences compilation validated and implemented on the UCSC genome browser Tekijä Domenico Simone, Francesco Maria Calabrese, Martin Lang, Giuseppe Gasparre, Marcella Attimonelli

Hae kokoteksti Hae kokoteksti

The genomic basis of the Williams – Beuren syndrome Tekijä Cornelia Schubert

Hae kokoteksti Hae kokoteksti

Global trends of whole-genome duplications revealed by the ciliate Paramecium tetraurelia Tekijä Jean‐Marc Aury, Olivier Jaillon, Laurent Duret, Benjamin Noël, Claire Jubin, Betina M. Porcel, Béatrice Segurens, Vincent Daubin, Véronique Anthouard, Nathalie Aiach, Olivier Arnaiz, Alain Billaut, Janine Beisson, Isabelle Blanc, Khaled Bouhouche, Francisco Câmara, Sandra Duharcourt, Roderic Guigó, Delphine Gogendeau, Michaël Katinka, Anne‐Marie Keller, Roland Kissmehl, Catherine Klotz, France Koll, Anne Le Mouël, Gersende Lepère, Sophie Malinsky, Mariusz Nowacki, J Nowak, Helmut Plattner, Julie Poulain, Françoise Ruiz, Vincent Serrano, Marek Zagulski, Philippe Dessen, Mireille Bétermier, Jean Weissenbach, Claude Scarpelli, Vincent Schächter, Linda Sperling, Éric Meyer, Jean Cohen, Patrick Wincker

Hae kokoteksti Hae kokoteksti

The Mosaic Structure of Human Pericentromeric DNA: A Strategy for Characterizing Complex Regions of the Human Genome Tekijä Juliann E. Horvath, Stuart Schwartz, Evan E. Eichler

Hae kokoteksti Hae kokoteksti

Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons Tekijä Miguel Angel Pujana, Marga Nadal, Míriam Guitart, Lluı́s Armengol, Mónica Gratacòs, Xavier Estivill

Hae kokoteksti Hae kokoteksti

Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements Tekijä Lluı́s Armengol

Hae kokoteksti Hae kokoteksti

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity Tekijä Ruxandra Bachmann‐Gagescu, Heather C. Mefford, Charles A. Cowan, Gwen M. Glew, Anne Hing, Stephanie E Wallace, Patricia I. Bader, Aline I. Hamati, Pamela J. Reitnauer, Rosemarie Smith, David W. Stockton, Hiltrud Muhle, Ingo Helbig, Evan E. Eichler, Blake C. Ballif, Jill A. Rosenfeld, Karen D. Tsuchiya

Hae kokoteksti Hae kokoteksti

Evolution and functional divergence of NLRPgenes in mammalian reproductive systems Tekijä Xin Tian, Géraldine Pascal, Philippe Monget

Hae kokoteksti Hae kokoteksti

Heterogeneous Duplications in Patients with Pelizaeus-Merzbacher Disease Suggest a Mechanism of Coupled Homologous and Nonhomologous Recombination Tekijä Karen Woodward, Maria Cundall, Karen Sperle, Erik A. Sistermans, Mark T. Ross, Gareth R. Howell, Susan Gribble, D. C. Burford, Nigel P. Carter, Donald L. Hobson, James Garbern, John Kamholz, Henry H.Q. Heng, M. E. Hodes, Sue Malcolm, Grace M. Hobson

Hae kokoteksti Hae kokoteksti

Human-Specific Duplication and Mosaic Transcripts: The Recent Paralogous Structure of Chromosome 22 Tekijä Jeffrey A. Bailey, Amy M. Yavor, Luigi Viggiano, Doriana Misceo, Juliann E. Horvath, Nicoletta Archidiacono, Stuart Schwartz, Mariano Rocchi, Evan E. Eichler

Hae kokoteksti Hae kokoteksti

Structural diversity and African origin of the 17q21.31 inversion polymorphism Tekijä Karyn Meltz Steinberg, Francesca Antonacci, Peter H. Sudmant, Jeffrey M. Kidd, Colin Campbell, Laura Vives, Maika Malig, Laura Scheinfeldt, William Beggs, Muntaser E. Ibrahim, Godfrey Lema, Thomas Nyambo, Sabah A. Omar, Jean-Marie Bodo, Alain Froment, Michael P. Donnelly, Kenneth K. Kídd, Sarah A. Tishkoff, Evan E. Eichler

Hae kokoteksti