Showing results 62241 to 62260 of 104069
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| Preview | Issue Date | Title | Author(s) |
| 1995 | Mutations in the B-domain of insulin-like growth factor (IGF-I) influence the oxidative folding to yield products with modified biological properties | Milner, S.; Francis, G.; Wallace, J.; Magee, B.; Ballard, F. |
| 2007 | Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly | Field, M.; Tarpey, P.; Smith, R.; Edkins, S.; O'Meara, S.; Stevens, C.; Tofts, C.; Teague, J.; Butler, A.; Dicks, E.; Barthorpe, S.; Buck, G.; Cole, J.; Gray, K.; Halliday, K.; Hills, K.; Jenkinson, A.; Jones, D.; Menzies, A.; Mironenko, T.; 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. |
| 2018 | Mutations in the epithelial cadherin-p120-catenin complex cause Mendelian non-syndromic cleft lip with or without cleft palate | Cox, L.; Cox, T.; Moreno Uribe, L.; Zhu, Y.; Richter, C.; Nidey, N.; Standley, J.; Deng, M.; Blue, E.; Chong, J.; Yang, Y.; Carstens, R.; Anand, D.; Lachke, S.; Smith, J.; Dorschner, M.; Bedell, B.; Kirk, E.; Hing, A.; Venselaar, H.; 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. |
| 2006 | Mutations in the gene encoding the sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation | Tarpey, P.; Stevens, C.; Teague, J.; Edkins, S.; O'Meara, S.; Avis, T.; Barthorpe, S.; Buck, G.; Butler, A.; Cole, J.; Dicks, E.; Gray, K.; Halliday, K.; Harrison, R.; Hills, K.; Hinton, J.; Jones, D.; Menzies, A.; Mironenko, T.; Perry, J.; et al. |
| 2001 | Mutations in the gene for methylenetetrahydrofolate reductase, homocysteine levels, and vitamin status in women with a history of preeclampsia | Lachmeijer, A.; Arngrimsson, R.; Bastiaans, E.; Pals, G.; ten Kate, L.; de Vries, J.; Kostense, P.; Aarnoudse, J.; Dekker, G. |
| 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. |
| 2002 | Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy | Stromme, P.; Mangelsdorf, M.; Shaw, M.; Lower, K.; Lewis, S.; Bruyere, H.; Lutcherath, V.; Gedeon, A.; Wallace, R.; Scheffer, I.; Turner, G.; Partington, M.; Frints, S.; Fryns, J.; Sutherland, G.; Mulley, J.; Gecz, J. |
| 2014 | Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum | Sukalo, M.; Fiedler, A.; Guzman, C.; Spranger, S.; Addor, M.; Mcheik, J.; Benavent, M.; Cobben, J.; Gillis, L.; Shealy, A.; Deshpande, C.; Bozorgmehr, B.; Everman, D.; Stattin, E.; Liebelt, J.; Keller, K.; Bertola, D.; van Karnebeek, C.; Bergmann, C.; Liu, Z.; 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. |
| 2017 | Mutations in the Katnb1 gene cause left-right asymmetry and heart defects | Furtado, M.B.; Merriner, D.J.; Berger, S.; Rhodes, D.; Jamsai, D.; O'Bryan, M.K. |
| 2016 | Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy | Ricos, M.G.; Hodgson, B.L.; Pippucci, T.; Saidin, A.; Ong, Y.S.; Heron, S.E.; Licchetta, L.; Bisulli, F.; Bayly, M.A.; Hughes, J.; Baldassari, S.; Palombo, F.; Epilepsy Electroclinical Study Group,; Santucci, M.; Meletti, S.; Berkovic, S.F.; Rubboli, G.; Thomas, P.Q.; Scheffer, I.E.; Tinuper, P.; et al. |
| 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. |
| 2017 | Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia | Pleines, I.; Woods, J.; Chappaz, S.; Kew, V.; Foad, N.; Ballester-Beltrán, J.; Aurbach, K.; Lincetto, C.; Lane, R.M.; Schevzov, G.; Alexander, W.S.; Hilton, D.J.; Astle, W.J.; Downes, K.; Nurden, P.; Westbury, S.K.; Mumford, A.D.; Obaji, S.G.; Collins, P.W.; BioResource, N.; et al. |
| 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. |
