Expansion of a 12-kb VNTR containing the REXO1L1 gene cluster underlies the microscopically visible euchromatic variant of 8q21.2

بواسطة Tyson, Christine, Sharp, Andrew J, Hrynchak, Monica, Yong, Siu L, Hollox, Edward J, Warburton, Peter, Barber, John CK
منشور في 2014

8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families

بواسطة Barber, John CK, Bunyan, Dave, Curtis, Merryl, Robinson, Denise, Morlot, Susanne, Dermitzel, Anette, Liehr, Thomas, Alves, Claudia, Trindade, Joana, Paramos, Ana I, Cooper, Clare, Ocraft, Kevin, Taylor, Emma-Jane, Maloney, Viv K
منشور في 2010

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

بواسطة Mefford, Heather C., Sharp, Andrew J., Baker, Carl, Itsara, Andy, Jiang, Zhaoshi, Buysse, Karen, Huang, Shuwen, Maloney, Viv K., Crolla, John A., Baralle, Diana, Collins, Amanda, Mercer, Catherine, Norga, Koen, de Ravel, Thomy, Devriendt, Koen, Bongers, Ernie M.H.F., de Leeuw, Nicole, Reardon, William, Gimelli, Stefania, Bena, Frederique, Hennekam, Raoul C., Male, Alison, Gaunt, Lorraine, Clayton-Smith, Jill, Simonic, Ingrid, Park, Soo Mi, Mehta, Sarju G., Nik-Zainal, Serena, Woods, C. Geoffrey, Firth, Helen V., Parkin, Georgina, Fichera, Marco, Reitano, Santina, Giudice, Mariangela Lo, Li, Kelly E., Casuga, Iris, Broomer, Adam, Conrad, Bernard, Schwerzmann, Markus, Räber, Lorenz, Gallati, Sabina, Striano, Pasquale, Coppola, Antonietta, Tolmie, John L., Tobias, Edward S., Lilley, Chris, Armengol, Lluis, Spysschaert, Yves, Verloo, Patrick, De Coene, Anja, Goossens, Linde, Mortier, Geert, Speleman, Frank, van Binsbergen, Ellen, Nelen, Marcel R., Hochstenbach, Ron, Poot, Martin, Gallagher, Louise, Gill, Michael, McClellan, Jon, King, Mary-Claire, Regan, Regina, Skinner, Cindy, Stevenson, Roger E., Antonarakis, Stylianos E., Chen, Caifu, Estivill, Xavier, Menten, Björn, Gimelli, Giorgio, Gribble, Susan, Schwartz, Stuart, Sutcliffe, James S., Walsh, Tom, Knight, Samantha J.L., Sebat, Jonathan, Romano, Corrado, Schwartz, Charles E., Veltman, Joris A., de Vries, Bert B.A., Vermeesch, Joris R., Barber, John C.K., Willatt, Lionel, Tassabehji, May, Eichler, Evan E.
منشور في 2008