UBE2A-Related X-linked Intellectual Disability

ανά Stevenson, Roger E., Chudley, Albert E., Srivastava, Anand K., Rodriguez, Jayson, Friez, Michael J., Schwartz, Charles E.
Τόπος έκδοσης Clin Dysmorphol (2019)

Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith–Magenis syndrome

ανά Vieira, Gustavo H, Rodriguez, Jayson D, Carmona-Mora, Paulina, Cao, Lei, Gamba, Bruno F, Carvalho, Daniel R, de Rezende Duarte, Andréa, Santos, Suely R, de Souza, Deise H, DuPont, Barbara R, Walz, Katherina, Moretti-Ferreira, Danilo, Srivastava, Anand K
Έκδοση 2012

Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans

ανά Wu, Ye, Arai, Amy C., Rumbaugh, Gavin, Srivastava, Anand K., Turner, Gillian, Hayashi, Takashi, Suzuki, Erika, Jiang, Yuwu, Zhang, Lilei, Rodriguez, Jayson, Boyle, Jackie, Tarpey, Patrick, Raymond, F. Lucy, Nevelsteen, Joke, Froyen, Guy, Stratton, Mike, Futreal, Andy, Gecz, Jozef, Stevenson, Roger, Schwartz, Charles E., Valle, David, Huganir, Richard L., Wang, Tao
Έκδοση 2007

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

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

ανά Tarpey, Patrick S, Raymond, F Lucy, Nguyen, Lam S, Rodriguez, Jayson, Hackett, Anna, Vandeleur, Lucianne, Smith, Raffaella, Shoubridge, Cheryl, Edkins, Sarah, Stevens, Claire, O'Meara, Sarah, Tofts, Calli, Barthorpe, Syd, Buck, Gemma, Cole, Jennifer, Halliday, Kelly, Hills, Katy, Jones, David, Mironenko, Tatiana, Perry, Janet, Varian, Jennifer, West, Sofie, Widaa, Sara, Teague, John, Dicks, Ed, Butler, Adam, Menzies, Andrew, Richardson, David, Jenkinson, Andrew, Shepherd, Rebecca, Raine, Keiran, Moon, Jenny, Luo, Yin, Parnau, Josep, Bhat, Shambhu S, Gardner, Alison, Corbett, Mark, Brooks, Doug, Thomas, Paul, Parkinson-Lawrence, Emma, Porteous, Mary E, Warner, John P, Sanderson, Tracy, Pearson, Pauline, Simensen, Richard J, Skinner, Cindy, Hoganson, George, Superneau, Duane, Wooster, Richard, Bobrow, Martin, Turner, Gillian, Stevenson, Roger E, Schwartz, Charles E, Futreal, P Andrew, Srivastava, Anand K, Stratton, Michael R, Gécz, Jozef
Έκδοση 2007