Not logged inX-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
Dibbens, Leanne M.; Tarpey, Patrick S.; Hynes, Kim; Bayly, Marta A.; Scheffer, Ingrid E.; Smith, Raffaella; Bomar, Jamee; Sutton, Edwina; Vandeleur, Lucianne; Shoubridge, Cheryl; Edkins, Sarah; Turner, Samantha J.; Stevens, Claire; O'Meara, Sarah; Tofts, Calli; Barthorpe, Syd; Buck, Gemma; Cole, Jennifer; Halliday, Kelly; Jones, David; Lee, Rebecca; Madison, Mark; Mironenko, Tatiana; Varian, Jennifer; West, Sofie; Widaa, Sara; Wray, Paul; Teague, John; Dicks, Ed; Butler, Adam; Menzies, Andrew; Jenkinson, Andrew; Shepherd, Rebecca; Gusella, James F.; Afawi, Zaid; Mazarib, Aziz; Neufeld, Miriam Y.; Kivity, Sara; Lev, Dorit; Lerman-Sagie, Tally; Korczyn, Amos D.; Derry, Christopher P.; Sutherland, Grant R.; Friend, Kathryn; Shaw, Marie; Corbett, Mark; Kim, Hyung-Goo; Geschwind, Daniel H.; Thomas, Paul; Haan, Eric; Ryan, Stephen; McKee, Shane; Berkovic, Samuel F.; Futreal, P. Andrew; Stratton, Michael R.; Mulley, John C.; Gecz, Jozef .png)
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SaveDeletion of Glu155 causes a deficiency of glutathione transferase Omega 1-1 but does not alter sensitivity to arsenic trioxide and other cytotoxic drugsSchmuck, Erica; Cappello, Jean; Coggan, Marjorie; Brew, Jenny; Cavanaugh, Juleen A.; Blackburn, Anneke C.; Baker, Rohan T.; Eyre, Helen J.; Sutherland, Grant R.; Board, Philip G. Share Save Share Save Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear proteinSarafidou, T; Kahl, C; Martinez-Garay, I; Mangelsdorf, M; Gesk, S; Baker, E; Kokkinaki, M; Talley, P; Maltby, EL; French, L; Harder, L; Hinzmann, B; Nobile, C; Richkind, K; Finnis, M; Deloukas, P; Sutherland, GR; Kutsche, K; Moschonas, NK; Siebert, R; Gécz, J Share Save HLS5, a novel RBCC (ring finger, B box, coiled-coil) family member isolated from a hemopoietic lineage switch, is a candidate tumor suppressorLalonde, JP; Lim, R; Ingley, E; Tilbrook, PA; Thompson, MJ; McCulloch, R; Beaumont, JG; Wicking, C; Eyre, HJ; Sutherland, GR; Howe, K; Solomon, E; Williams, JH; Klinken, SP Share Save Share Save Disruption of the Serine/Threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardationKalscheuer, VM; Tao, J; Donnelly, A; Hollway, G; Schwinger, E; Kübart, S; Menzel, C; Hoeltzenbein, M; Tommerup, N; Eyre, H; Harbord, M; Haan, E; Sutherland, GR; Ropers, HH; Gécz, J Share Save Sequencing, transcript identification, and quantitative gene expression profiling in the breast cancer loss of heterozygosity region 16q24.3 reveal three potential tumor-suppressor genesPowell, JA; Gardner, AE; Bais, AJ; Hinze, SJ; Baker, E; Whitmore, S; Crawford, J; Kochetkova, M; Spendlove, HE; Doggett, NA; Sutherland, GR; Callen, DF; Kremmidiotis, G Share Save Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsyStromme, P; Mangelsdorf, ME; Shaw, MA; Lower, KM; Lewis, SME; Bruyere, H; Lütcherath, V; Gedeon, AK; Wallace, RH; Scheffer, IE; Turner, G; Partington, M; Frints, SGM; Fryns, JP; Sutherland, GR; Mulley, JC; Gécz, J Share Save Share Save Share Save Share Save Mutant GABAA receptor γ2-subunit in childhood absence epilepsy and febrile seizuresWallace, RH; Marini, C; Petrou, S; Harkin, LA; Bowser, DN; Panchal, RG; Williams, DA; Sutherland, GR; Mulley, JC; Scheffer, IE; Berkovic, SF Share Save CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsyPhillips, HA; Favre, I; Kirkpatrick, M; Zuberi, SM; Goudie, D; Heron, SE; Scheffer, IE; Sutherland, GR; Berkovic, SF; Bertrand, D; Mulley, JC Share Save Fcα/μ receptor mediates endocytosis of IgM-coated microbesShibuya, A; Sakamoto, N; Shimizu, Y; Shibuya, K; Osawa, M; Hiroyama, T; Eyre, HJ; Sutherland, GR; Endo, Y; Fujita, T; Miyabayashi, T; Sakano, S; Tsuji, T; Nakayama, E; Phillips, JH; Lanier, LL; Nakauchi, H Share Save Share Save Share Save Share Save Share Save Share Save 
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