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PreviewIssue DateTitleAuthor(s)
2007Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephalyField, 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.
2007Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a marfanoid habitusRaymond, 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.
2007Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardationTarpey, P.; Raymond, F.; Nguyen, L.; Rodriguez, J.; Hackett, A.; Vandeleur, L.; Smith, R.; Shoubridge, C.; Edkins, S.; Stevens, C.; O'Meara, S.; Tofts, C.; Barthorpe, S.; Buck, G.; Cole, J.; Halliday, K.; Hills, K.; Jones, D.; Mironenko, T.; Perry, J.; et al.
2006Newborn screening for 3-methylcrontonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessmentStadler, S.; Polanetz, R.; Maier, E.; Heidenreich, S.; Niederer, B.; Mayerhofer, P.; Lagler, F.; Koch, H.; Santer, R.; Fletcher, J.; Ranieri, E.; Das, A.; Spiekerkotter, U.; Schwab, K.; Potzsch, S.; Marquardt, I.; Hennermann, J.; Knerr, I.; Mercimek-Mahmutoglu, S.; Kohlschmidt, N.; et al.
2006Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiencyKnisely, A.; Strautnieks, S.; Meier, Y.; Stieger, B.; Byrne, J.; Portmann, B.; Bull, L.; Pawlikowska, L.; Bilezikci, B.; Ozcay, F.; Laszlo, A.; Tiszlavicz, L.; Moore, L.; Raftos, J.; Arnell, H.; Fischler, B.; Nemeth, A.; Papadogiannakis, N.; Cielecka-Kuszyk, J.; Jankowska, I.; et al.
2007Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX Consortiumde Brouwer, A.; Yntema, H.; Kleefstra, T.; Lugtenberg, D.; Oudakker, A.; de Vries, B.; van Bokhoven, H.; Van Esch, H.; Frints, S.; Froyen, G.; Fryns, J.; Raynaud, M.; Moizard, M.; Ronce, N.; Bensalem, A.; Moraine, C.; Poirier, K.; Castelnau, L.; Saillour, Y.; Bienvenu, T.; et al.
2008Nilotinib (formerly AMN107), a highly selective BCR-ABL tyrosine kinase inhibitor, is active in patients with imatinib-resistant or -intolerant accelerated-phase chronic myelogenous leukemiale Coutre, P.; Ottmann, O.; Giles, F.; Kim, D.; Cortes, J.; Gattermann, N.; Apperley, J.; Larson, R.; Abruzzese, E.; O'Brien, S.; Kuliczkowski, K.; Hochhaus, A.; Mahon, F.; Saglio, G.; Gobbi, M.; Kwong, Y.; Baccarani, M.; Hughes, T.; Martinelli, G.; Radich, J.; et al.
2008Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardationFroyen, G.; Corbett, M.; Vandewalle, J.; Jarvela, I.; Lawrence, O.; Meldrum, C.; Bauters, M.; Govaerts, K.; Vandeleur, L.; Van Esch, H.; Chelly, J.; Sanlaville, D.; van Bokhoven, H.; Ropers, H.; Laumonnier, F.; Ranieri, E.; Schwartz, C.; Abidi, F.; Tarpey, P.; Futreal, P.; et al.
2008SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndromeGilfillan, G.; Selmer, K.; Roxrud, I.; Smith, R.; Kyllerman, M.; Eiklid, K.; Kroken, M.; Mattingsdal, M.; Egeland, T.; Stenmark, H.; Sjoholm, H.; Server, A.; Samuelsson, L.; Christianson, A.; Tarpey, P.; Whibley, A.; Stratton, M.; Futreal, P.; Teague, J.; Edkins, S.; et al.
2007Mutations in CUL4B which encodes a ubiquitin E3 ligase subunit cause an X-linked mental retardation syndrome associated with aggressive outbursts seizures relative macrocephaly central obesity hypogonadism pes cavus and tremorTarpey, P.; Raymond, F.; O'Meara, S.; Edkins, S.; Teague, J.; Butler, A.; Dicks, E.; Stevens, C.; Tofts, C.; Avis, T.; Barthorpe, S.; Buck, G.; Cole, J.; Gray, K.; Halliday, K.; Harrison, R.; Hills, K.; Jenkinson, A.; Jones, D.; Menzies, A.; et al.