Bibliotecas PUC-SP - Busca Integrada

Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation

ανά Molinari, Florence, Foulquier, François, Tarpey, Patrick S., Morelle, Willy, Boissel, Sarah, Teague, Jon, Edkins, Sarah, Futreal, P. Andrew, Stratton, Michael R., Turner, Gillian, Matthijs, Gert, Gecz, Jozef, Munnich, Arnold, Colleaux, Laurence
Έκδοση 2008

A survey of homozygous deletions in human cancer genomes

ανά Cox, Charles, Bignell, Graham, Greenman, Chris, Stabenau, Arne, Warren, William, Stephens, Philip, Davies, Helen, Watt, Stephen, Teague, Jon, Edkins, Sara, Birney, Ewan, Easton, Douglas F., Wooster, Richard, Futreal, P. Andrew, Stratton, Michael R.
Έκδοση 2005

The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

ανά Schwartz, Charles E, Tarpey, Patrick S, Lubs, Herbert A, Verloes, Alain, May, Melanie M, Risheg, Hiba, Friez, Michael J, Futreal, P Andrew, Edkins, Sarah, Teague, Jon, Briault, Sylvain, Skinner, Cindy, Bauer‐Carlin, Astrid, Simensen, Richard J, Joseph, Sumy M, Jones, Julie R, Gecz, Josef, Stratton, Michael R, Raymond, F Lucy, Stevenson, Roger E
Έκδοση 2007

SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome

ανά Gilfillan, Gregor D., Selmer, Kaja K., Roxrud, Ingrid, Smith, Raffaella, Kyllerman, Mårten, Eiklid, Kristin, Kroken, Mette, Mattingsdal, Morten, Egeland, Thore, Stenmark, Harald, Sjøholm, Hans, Server, Andres, Samuelsson, Lena, Christianson, Arnold, Tarpey, Patrick, Whibley, Annabel, Stratton, Michael R., Futreal, P. Andrew, Teague, Jon, Edkins, Sarah, Gecz, Jozef, Turner, Gillian, Raymond, F. Lucy, Schwartz, Charles, Stevenson, Roger E., Undlien, Dag E., Strømme, Petter
Έκδοση 2008

Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing

ανά Campbell, Peter J, Stephens, Philip J, Pleasance, Erin D, O’Meara, Sarah, Li, Heng, Santarius, Thomas, Stebbings, Lucy A, Leroy, Catherine, Edkins, Sarah, Hardy, Claire, Teague, Jon W, Menzies, Andrew, Goodhead, Ian, Turner, Daniel J, Clee, Christopher M, Quail, Michael A, Cox, Antony, Brown, Clive, Durbin, Richard, Hurles, Matthew E, Edwards, Paul A W, Bignell, Graham R, Stratton, Michael R, Futreal, P Andrew
Έκδοση 2008

Mutations in the DLG3 Gene Cause Nonsyndromic X-Linked Mental Retardation

ανά Tarpey, Patrick, Parnau, Josep, Blow, Matthew, Woffendin, Hayley, Bignell, Graham, Cox, Charles, Cox, James, Davies, Helen, Edkins, Sarah, Holden, Simon, Korny, Angelique, Mallya, Uma, Moon, Jenny, O’Meara, Sarah, Parker, Adrian, Stephens, Philip, Stevens, Claire, Teague, Jon, Donnelly, Andrew, Mangelsdorf, Marie, Mulley, John, Partington, Michael, Turner, Gillian, Stevenson, Roger, Schwartz, Charles, Young, Ian, Easton, Douglas, Bobrow, Martin, Futreal, P. Andrew, Stratton, Michael R., Gecz, Jozef, Wooster, Richard, Raymond, F. Lucy
Έκδοση 2004

Mutations in ZDHHC9, Which Encodes a Palmitoyltransferase of NRAS and HRAS, Cause X-Linked Mental Retardation Associated with a Marfanoid Habitus

ανά Raymond, F. Lucy, Tarpey, Patrick S., Edkins, Sarah, Tofts, Calli, O’Meara, Sarah, Teague, Jon, Butler, Adam, Stevens, Claire, Barthorpe, Syd, Buck, Gemma, Cole, Jennifer, Dicks, Ed, Gray, Kristian, Halliday, Kelly, Hills, Katy, Hinton, Jonathon, Jones, David, Menzies, Andrew, Perry, Janet, Raine, Keiran, Shepherd, Rebecca, Small, Alexandra, Varian, Jennifer, Widaa, Sara, Mallya, Uma, Moon, Jenny, Luo, Ying, Shaw, Marie, Boyle, Jackie, Kerr, Bronwyn, Turner, Gillian, Quarrell, Oliver, Cole, Trevor, Easton, Douglas F., Wooster, Richard, Bobrow, Martin, Schwartz, Charles E., Gecz, Jozef, Stratton, Michael R., Futreal, P. Andrew
Έκδοση 2007

Mutations in the BRWD3 Gene Cause X-Linked Mental Retardation Associated with Macrocephaly

ανά Field, Michael , Tarpey, Patrick S. , Smith, Raffaella , Edkins, Sarah , O’Meara, Sarah , Stevens, Claire , Tofts, Calli , Teague, Jon , Butler, Adam , Dicks, Ed , Barthorpe, Syd , Buck, Gemma , Cole, Jennifer , Gray, Kristian , Halliday, Kelly , Hills, Katy , Jenkinson, Andrew , Jones, David , Menzies, Andrew , Mironenko, Tatiana , Perry, Janet , Raine, Keiran , Richardson, David , Shepherd, Rebecca , Small, Alexandra , Varian, Jennifer , West, Sofie , Widaa, Sara , Mallya, Uma , Wooster, Richard , Moon, Jenny , Luo, Ying , Hughes, Helen , Shaw, Marie , Friend, Kathryn L. , Corbett, Mark , Turner, Gillian , Partington, Michael , Mulley, John , Bobrow, Martin , Schwartz, Charles , Stevenson, Roger , Gecz, Jozef , Stratton, Michael R. , Andrew Futreal, P. , Lucy Raymond, F. 
Έκδοση 2007

Mutation analysis of 24 known cancer genes in the NCI-60 cell line set

ανά Ikediobi, Ogechi N., Davies, Helen, Bignell, Graham, Edkins, Sarah, Stevens, Claire, O’Meara, Sarah, Santarius, Thomas, Avis, Tim, Barthorpe, Syd, Brackenbury, Lisa, Buck, Gemma, Butler, Adam, Clements, Jody, Cole, Jennifer, Dicks, Ed, Forbes, Simon, Gray, Kristian, Halliday, Kelly, Harrison, Rachel, Hills, Katy, Hinton, Jonathan, Hunter, Chris, Jenkinson, Andy, Jones, David, Kosmidou, Vivienne, Lugg, Richard, Menzies, Andrew, Mironenko, Tatiana, Parker, Adrian, Perry, Janet, Raine, Keiran, Richardson, David, Shepherd, Rebecca, Small, Alex, Smith, Raffaella, Solomon, Helen, Stephens, Philip, Teague, Jon, Tofts, Calli, Varian, Jennifer, Webb, Tony, West, Sofie, Widaa, Sara, Yates, Andy, Reinhold, William, Weinstein, John N., Stratton, Michael R., Futreal, P. Andrew, Wooster, Richard
Έκδοση 2006

Mutations in the Gene Encoding the Sigma 2 Subunit of the Adaptor Protein 1 Complex, AP1S2, Cause X-Linked Mental Retardation

ανά Tarpey, Patrick S. , Stevens, Claire , Teague, Jon , Edkins, Sarah , O’Meara, Sarah , Avis, Tim , Barthorpe, Syd , Buck, Gemma , Butler, Adam , Cole, Jennifer , Dicks, Ed , Gray, Kristian , Halliday, Kelly , Harrison, Rachel , Hills, Katy , Hinton, Jonathon , Jones, David , Menzies, Andrew , Mironenko, Tatiana , Perry, Janet , Raine, Keiran , Richardson, David , Shepherd, Rebecca , Small, Alexandra , Tofts, Calli , Varian, Jennifer , West, Sofie , Widaa, Sara , Yates, Andy , Catford, Rachael , Butler, Julia , Mallya, Uma , Moon, Jenny , Luo, Ying , Dorkins, Huw , Thompson, Deborah , Easton, Douglas F. , Wooster, Richard , Bobrow, Martin , Carpenter, Nancy , Simensen, Richard J. , Schwartz, Charles E. , Stevenson, Roger E. , Turner, Gillian , Partington, Michael , Gecz, Jozef , Stratton, Michael R. , Futreal, P. Andrew , Raymond, F. Lucy 
Έκδοση 2006

Mutations in CUL4B, Which Encodes a Ubiquitin E3 Ligase Subunit, Cause an X-linked Mental Retardation Syndrome Associated with Aggressive Outbursts, Seizures, Relative Macrocephaly...

ανά Tarpey, Patrick S. , Raymond, F. Lucy , O’Meara, Sarah , Edkins, Sarah , Teague, Jon , Butler, Adam , Dicks, Ed , Stevens, Claire , Tofts, Calli , Avis, Tim , Barthorpe, Syd , Buck, Gemma , Cole, Jennifer , Gray, Kristian , Halliday, Kelly , Harrison, Rachel , Hills, Katy , Jenkinson, Andrew , Jones, David , Menzies, Andrew , Mironenko, Tatiana , Perry, Janet , Raine, Keiran , Richardson, David , Shepherd, Rebecca , Small, Alexandra , Varian, Jennifer , West, Sofie , Widaa, Sara , Mallya, Uma , Moon, Jenny , Luo, Ying , Holder, Susan , Smithson, Sarah F. , Hurst, Jane A. , Clayton-Smith, Jill , Kerr, Bronwyn , Boyle, Jackie , Shaw, Marie , Vandeleur, Lucianne , Rodriguez, Jayson , Slaugh, Rachel , Easton, Douglas F. , Wooster, Richard , Bobrow, Martin , Srivastava, Anand K. , Stevenson, Roger E. , Schwartz, Charles E. , Turner, Gillian , Gecz, Jozef , Futreal, P. Andrew , Stratton, Michael R. , Partington, Michael 
Έκδοση 2007

Patterns of somatic mutation in human cancer genomes

ανά Greenman, Christopher, Stephens, Philip, Smith, Raffaella, Dalgliesh, Gillian L., Hunter, Christopher, Bignell, Graham, Davies, Helen, Teague, Jon, Butler, Adam, Stevens, Claire, Edkins, Sarah, O'Meara, Sarah, Vastrik, Imre, Schmidt, Esther E., Avis, Tim, Barthorpe, Syd, Bhamra, Gurpreet, Buck, Gemma, Choudhury, Bhudipa, Clements, Jody, Cole, Jennifer, Dicks, Ed, Forbes, Simon, Gray, Kris, Halliday, Kelly, Harrison, Rachel, Hills, Katy, Hinton, Jon, Jenkinson, Andy, Jones, David, Menzies, Andy, Mironenko, Tatiana, Perry, Janet, Raine, Keiran, Richardson, Dave, Shepherd, Rebecca, Small, Alexandra, Tofts, Calli, Varian, Jennifer, Webb, Tony, West, Sofie, Widaa, Sara, Yates, Andy, Cahill, Daniel P., Louis, David N., Goldstraw, Peter, Nicholson, Andrew G., Brasseur, Francis, Looijenga, Leendert, Weber, Barbara L., Chiew, Yoke-Eng, deFazio, Anna, Greaves, Mel F., Green, Anthony R., Campbell, Peter, Birney, Ewan, Easton, Douglas F., Chenevix-Trench, Georgia, Tan, Min-Han, Khoo, Sok Kean, Teh, Bin Tean, Yuen, Siu Tsan, Leung, Suet Yi, Wooster, Richard, Futreal, P. Andrew, Stratton, Michael R.
Έκδοση 2007