Showing results 1903 to 1922 of 3020
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| Preview | Issue Date | Title | Author(s) |
| 2014 | Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations | Scheffer, I.; Heron, S.; Regan, B.; Mandelstam, S.; Crompton, D.; Hodgson, B.; Licchetta, L.; Provini, F.; Bisulli, F.; Vadlamudi, L.; Gecz, J.; Connelly, A.; Tinuper, P.; Ricos, M.; Berkovic, S.; Dibbens, L. |
| 2010 | Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination | Pearlman, A.; Loke, J.; Le Caignec, C.; White, S.; Chin, L.; Friedman, A.; Warr, N.; Willan, J.; Brauer, D.; Farmer, C.; Brooks, E.; Oddoux, C.; Riley, B.; Shajahan, S.; Camerino, G.; Homfray, T.; Crosby, A.; Couper, J.; David, A.; Greenfield, A.; et al. |
| 2004 | Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation | Tarpey, P.; Parnau, J.; Blow, M.; Woffendin, H.; Bignell, G.; Cox, C.; Cox, J.; Davies, H.; Edkins, S.; Holden, S.; Korny, A.; Mallya, U.; Moon, J.; O'Meara, S.; Parker, A.; Stephens, P.; Stevens, C.; Teague, J.; Donnelly, A.; Mangelsdorf, M.; et al. |
| 2004 | Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation | Freude, K.; Hoffmann, K.; Jensen, L.; Delatycki, M.; des Portes, V.; Moser, B.; Hamel, B.; van Bokhoven, H.; Moraine, C.; Fryns, J.; Chelly, J.; Gecz, J.; Lenzner, S.; Kalscheuer, V.; Ropers, H. |
| 2010 | Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability | Shoubridge, C.; Tarpey, P.; Abidi, F.; Ramsden, S.; Rujirabanjerd, S.; Murphy, J.; Boyle, J.; Shaw, M.; Gardner, A.; Proos, A.; Puusepp, H.; Raymond, F.; Schwartz, C.; Stevenson, R.; Turner, G.; Field, M.; Walikonis, R.; Harvey, R.; Hackett, A.; Futreal, P.; et al. |
| 2015 | Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity | Brookes, E.; Laurent, B.; Õunap, K.; Carroll, R.; Moeschler, J.; Field, M.; Schwartz, C.; Gecz, J.; Shi, Y. |
| 2005 | Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation | Jensen, L.; Amende, M.; Gurok, U.; Moser, B.; Gimmel, V.; Tzschach, A.; Janecke, A.; Tariverdian, G.; Chelly, J.; Fryns, J.; Van Esch, H.; Kleefstra, T.; Hamel, B.; Moraine, C.; Gecz, J.; Turner, G.; Reinhardt, R.; Kalscheuer, V.; Ropers, H.; Lenzer, S. |
| 2010 | Mutations in the nuclear localization sequence of the Aristaless related homeobox; Sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division | Shoubridge, C.; Tan, M.; Fullston, T.; Cloosterman, D.; Coman, D.; McGillivray, G.; Mancini, G.; Kleefstra, T.; Gecz, J. |
| 2003 | Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation | Kalscheuer, V.; Freude, K.; Musante, L.; Jensen, L.; Yntema, H.; Gecz, J.; Sefiani, A.; Hoffmann, K.; Moser, B.; Haas, S.; Gurok, U.; Haesler, S.; Aranda, B.; Nshedjan, A.; Tzschach, A.; Hartmann, N.; Roloff, T.; Shoichet, S.; Hagens, O.; Tao, J.; et al. |
| 2010 | Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly | Giannandrea, M.; Bianchi, V.; Mignogna, M.; Sirri, A.; Carrabino, S.; D'Elia, E.; Vecellio, M.; Russo, S.; Cogliati, F.; Larizza, L.; Ropers, H.; Tzschach, A.; Kalscheuer, V.; Oehl-Jaschkowitz, B.; Skinner, C.; Schwartz, C.; Gecz, J.; Van Esch, H.; Raynaud, M.; Chelly, J.; et al. |
| 2004 | Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation | Tao, J.; Van Esch, H.; Hagedorn-Greiwe, M.; Hoffmann, K.; Moser, B.; Raynaud, M.; Sperner, J.; Fryns, J.; Schwinger, E.; Gecz, J.; Ropers, H.; Kalscheuer, V. |
| 2011 | Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I | He, H.; Liyanarachchi, S.; Akagi, K.; Nagy, R.; Li, J.; Dietrich, R.; Li, W.; Sebastian, N.; Wen, B.; Xin, B.; Singh, J.; Yan, P.; Alder, H.; Haan, E.; Wieczorek, D.; Albrecht, B.; Puffenberger, E.; Wang, H.; Westman, J.; Padgett, R.; et al. |
| 2014 | Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth | Homan, C.; Kumar, R.; Nguyen, L.; Haan, E.; Raymond, F.; Abidi, F.; Raynaud, M.; Schwartz, C.; Wood, S.; Gecz, J.; Jolly, L. |
| 2007 | Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a marfanoid habitus | Raymond, F.; Tarpey, P.; Edkins, S.; Tofts, C.; O'Meara, S.; Teague, J.; Butler, A.; Stevens, C.; Barthorpe, S.; Buck, G.; Cole, J.; Dicks, E.; Gray, K.; Harrison, R.; Hills, K.; Hinton, J.; Jones, D.; Menzies, A.; Perry, J.; Raine, K.; et al. |
| 2004 | Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation | Weaving, L.; Christodoulou, J.; Williamson, S.; Friend, K.; McKenzie, O.; Archer, H.; Evans, J.; Clarke, A.; Pelka, G.; Tam, P.; Watson, C.; Lahooti, H.; Ellaway, C.; Bennetts, B.; Leonard, H.; Gecz, J. |
| 2004 | Mutations of the mitochondrial ND1 gene as a cause of MELAS | Kirby, D.; McFarland, R.; Ohtake, A.; Dunning, C.; Ryan, M.; Wilson, C.; Ketteridge, D.; Turnbull, D.; Thorburn, D.; Taylor, R. |
| 2010 | Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism | Laumonnier, F.; Shoubridge, C.; Antar, C.; Nguyen, L.; Van Esch, H.; Kleefstra, T.; Briault, S.; Fryns, J.; Hamel, B.; Chelly, J.; Ropers, H.; Ronce, N.; Blesson, S.; Moraine, C.; Gecz, J.; Raynaud, M. |
| 1999 | Myeloid DAP12-associating lectin (MDL)-1 is a cell surface receptor involved in the activation of myeloid cells | Baker, E.; Sutherland, G.; Phillips, J.; Lanier, L. |
| 1995 | Myocardial infarction resulting from coronary artery dissection in an adolescent with Ehlers-Danlos syndrome type IV, due to a type III collagen mutation | Ades, Lesley Carole; Waltham, R. D.; Chiodo, A. A.; Bateman, John Francis |
| 2015 | Myogenesis in small and large ovine fetuses at three stages of pregnancy | Quigley, S.; Greenwood, P.; Kleemann, D.; Owens, J.; Bawden, C.; Nattrass, G. |
