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Number of items: 25.


Alston, CL; Davison, JE; Meloni, F; van der Westhuizen, FH; He, L; Hornig-Do, H-T; Peet, AC; ... Taylor, RW; + view all (2012) Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency. Journal of Medical Genetics , 49 (9) 569 -577. 10.1136/jmedgenet-2012-101146. Green open access


Bras, J; Verloes, A; Schneider, SA; Mole, SE; Guerreiro, RJ; (2012) Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. Human Molecular Genetics , 21 (12) 2646 - 2650. 10.1093/hmg/dds089. Green open access


Charlesworth, G; Plagnol, V; Holmström, KM; Bras, J; Sheerin, UM; Preza, E; Rubio-Agusti, I; ... Wood, NW; + view all (2012) Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis. The American Journal of Human Genetics , 91 (6) 1041 - 1050. 10.1016/j.ajhg.2012.10.024. Green open access


Derks, EM; Vorstman, JA; Ripke, S; Kahn, RS; Schizophrenia Psychiatric Genomic, C; Ophoff, RA; (2012) Investigation of the genetic association between quantitative measures of psychosis and schizophrenia: a polygenic risk score analysis. PLoS One , 7 , Article e37852. 10.1371/journal.pone.0037852. Green open access

Devine, MJ; Kaganovich, A; Ryten, M; Mamais, A; Trabzuni, D; Manzoni, C; McGoldrick, P; ... Lewis, PA; + view all (2012) Correction: Pathogenic LRRK2 Mutations Do Not Alter Gene Expression in Cell Model Systems or Human Brain Tissue. PLOS ONE , 7 (1) , Article e22489. 10.1371/annotation/c12e4f9e-5aae-424b-a69f-fddf16976dc5. Green open access


El-Khairi, R; Parnaik, R; Duncan, AJ; Lin, L; Gerrelli, D; Dattani, MT; Conway, GS; (2012) Analysis of LIN28A in early human ovary development and as a candidate gene for primary ovarian insufficiency. Molecular and Cellular Endocrinology , 351 (2) pp. 264-268. 10.1016/j.mce.2011.12.016. Green open access


Hernandez, DG; Nalls, MA; Moore, M; Chong, S; Dillman, A; Trabzuni, D; Gibbs, JR; ... Cookson, MR; + view all (2012) Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain. Neurobiology of Disease , 47 (1) 20 - 28. 10.1016/j.nbd.2012.03.020. Green open access


Ishida, M; Monk, D; Duncan, AJ; Abu-Amero, S; Chong, J; Ring, SM; Pembrey, ME; ... Moore, GE; + view all (2012) Maternal inheritance of a promoter variant in the imprinted PHLDA2 gene significantly increases birth weight. The American Journal of Human Genetics , 90 (4) 715 - 719. 10.1016/j.ajhg.2012.02.021. Green open access


Keller, MC; Simonson, MA; Ripke, S; Neale, BM; Gejman, PV; Howrigan, DP; Lee, SH; ... The Schizophrenia Psychiatric Genome-Wide Association Study Cons; + view all (2012) Runs of homozygosity implicate autozygosity as a schizophrenia risk factor. PLoS Genetics , 8 (4) , Article e1002656. 10.1371/journal.pgen.1002656. Green open access

Kenny, GD; Villegas-Llerena, C; Tagalakis, AD; Campbell, F; Welser, K; Botta, M; Tabor, AB; ... Hart, SL; + view all (2012) Multifunctional receptor-targeted nanocomplexes for magnetic resonance imaging and transfection of tumours. Biomaterials , 33 (29) 7241 - 7250. 10.1016/j.biomaterials.2012.06.042. Green open access

Kinsler, VA; (2012) Studies of congenital melanocytic naevi. Doctoral thesis , UCL (University College London).


Lescai, F; Bonfiglio, S; Bacchelli, C; Chanudet, E; Waters, A; Sisodiya, SM; Kasperavičiūtė, D; ... Stupka, E; + view all (2012) Characterisation and validation of insertions and deletions in 173 patient exomes. PLoS One , 7 (12) , Article e51292. 10.1371/journal.pone.0051292. Green open access


Nahorski, MS; Seabra, L; Reiman, A; Lu, X; Maher, ER; Straatman-Iwanowska, A; Gissen, P; ... Teh, BT; + view all (2012) Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered rhoa signalling, epithelial polarization and cytokinesis. Human Molecular Genetics , 21 (24) 5268 - 5279. 10.1093/hmg/dds378. Green open access


Padidela, R; Bryan, SM; Abu-Amero, S; Hudson-Davies, RE; Achermann, JC; Moore, GE; Hindmarsh, PC; (2012) The growth hormone receptor gene deleted for exon three (GHRd3) polymorphism is associated with birth and placental weight. Clinical Endocrinology , 76 (2) 236 - 240. 10.1111/j.1365-2265.2011.04207.x. Green open access

Pitceathly, RD; Rahman, S; Hanna, MG; (2012) Single deletions in mitochondrial DNA--molecular mechanisms and disease phenotypes in clinical practice. Neuromuscular Disorders , 22 (7) 577 - 586. 10.1016/j.nmd.2012.03.009. Green open access


Rahman, S; (2012) Mitochondrial disease and epilepsy. Dev Med Child Neurol , 54 (5) 397 - 406. 10.1111/j.1469-8749.2011.04214.x. Green open access

Rix, SM; (2012) The role of IFT80 in the molecular pathogenesis of Short Rib Polydactyly syndromes. Doctoral thesis , UCL (University of London).


Selman, L; Henriksen, ML; Brandt, J; Palarasah, Y; Waters, A; Beales, PL; Holmskov, U; ... Hansen, S; + view all (2012) An enzyme-linked immunosorbent assay (ELISA) for quantification of human collectin 11 (CL-11, CL-K1). Journal of Immunological Methods , 375 (1-2) 182 - 188. 10.1016/j.jim.2011.10.010. Green open access

Smith, H; Banushi, B; Bruce, CK; Cangul, H; Gogolina, E; Straatman-Iwanowska, A; Gissen, P; ... Watson, SP; + view all (2012) Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome. Human Mutation , 33 (12) 1656 - 1664. 10.1002/humu.22155. Green open access

Smith, KR; Damiano, J; Franceschetti, S; Carpenter, S; Canafoglia, L; Morbin, M; Rossi, G; ... Berkovic, SF; + view all (2012) Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. The American Journal of Human Genetics , 90 (6) 1102 - 1107. 10.1016/j.ajhg.2012.04.021. Green open access


Tantawy, S; Lin, L; Akkurt, I; Borck, G; Klingmueller, D; Hauffa, BP; Krude, H; ... Koehler, B; + view all (2012) Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations. European Journal of Endocrinology , 167 (1) pp. 125-130. 10.1530/EJE-11-0944. Green open access

Trabzuni, D; Wray, S; Vandrovcova, J; Ramasamy, A; Walker, R; Smith, C; Luk, C; ... Ryten, M; + view all (2012) MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies. Human Molecular Genetics , 21 (18) 4094 -4103. 10.1093/hmg/dds238. Green open access

Twigg, SR; Lloyd, D; Jenkins, D; Elçioglu, NE; Cooper, CD; Al-Sannaa, N; Annagür, A; ... Wilkie, AO; + view all (2012) Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization. Green open access


White, HE; Dent, CL; Hall, VJ; Crolla, JA; Chitty, LS; (2012) Evaluation of a novel assay for detection of the fetal marker RASSF1A: facilitating improved diagnostic reliability of noninvasive prenatal diagnosis. PLOS One , 7 (9) , Article e45073. 10.1371/journal.pone.0045073. Green open access

Writer, MJ; Kyrtatos, PG; Bienemann, AS; Pugh, JA; Lowe, AS; Villegas-Llerena, C; Kenny, GD; ... Hart, SL; + view all (2012) Lipid peptide nanocomplexes for gene delivery and magnetic resonance imaging in the brain. Journal of Controlled Release , 162 (2) 340 - 348. 10.1016/j.jconrel.2012.07.002. Green open access

This list was generated on Sun Feb 25 23:39:01 2024 GMT.