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Number of items: 40.

A

Allen, GFG; Ullah, Y; Hargreaves, IP; Land, JM; Heales, SJR; (2013) Dopamine but not L-dopa stimulates neural glutathione metabolism. Potential implications for Parkinson's and other dopamine deficiency states. NEUROCHEMISTRY INTERNATIONAL , 62 (5) pp. 684-694. 10.1016/j.neuint.2012.12.004.

B

Brouwer, MS; Roberts, AP; Hussain, H; Williams, RJ; Allan, E; Mullany, P; (2013) Horizontal gene transfer converts non-toxigenic Clostridium difficile strains into toxin producers. Nat Commun , 4 , Article 2601. 10.1038/ncomms3601. Green open access
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C

Callaway, JL; Shaffer, LG; Chitty, L; Rosenfeld, JA; Crolla, JA; (2013) The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature. Prenat Diagn , 33 (12) pp. 1119-1123. 10.1002/pd.4209. Green open access
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Cheung, L; (2013) Genetic Manipulation of the Wnt and Notch Signalling Pathways in the Pituitary Gland in Vivo. Doctoral thesis , UCL (University College London).

Chitty, LS; Khalil, A; Barrett, AN; Pajkrt, E; Griffin, DR; Cole, TJ; (2013) Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA. Prenat Diagn , 33 (5) 416 - 423. 10.1002/pd.4066. Green open access
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Copp, AJ; Stanier, P; Greene, NDE; (2013) Neural tube defects: recent advances, unsolved questions, and controversies. The Lancet Neurology , 12 (8) pp. 799-810. 10.1016/S1474-4422(13)70110-8. Green open access
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F

Ferdinandusse, S; Waterham, HR; Heales, SJ; Brown, GK; Hargreaves, IP; Taanman, JW; Gunny, R; ... Rahman, S; + view all (2013) HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase. Orphanet J Rare Dis , 8 (1) , Article 188. 10.1186/1750-1172-8-188. Green open access
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Foley, AR; Menezes, MP; Pandraud, A; Gonzalez, MA; Al-Odaib, A; Abrams, AJ; Sugano, K; ... Houlden, H; + view all (2013) Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain , 137 (1) , Article awt315. 10.1093/brain/awt315. Green open access
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Forabosco, P; Ramasamy, A; Trabzuni, D; Walker, R; Smith, C; Bras, J; Levine, AP; ... Ryten, M; + view all (2013) Insights into TREM2 biology by network analysis of human brain gene expression data. Neurobiol Aging , 34 (12) pp. 2699-2714. 10.1016/j.neurobiolaging.2013.05.001. Green open access
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G

Gnanapavan, S; Ho, P; Heywood, W; Jackson, S; Grant, D; Rantell, K; Keir, G; ... Giovannoni, G; + view all (2013) Progression in multiple sclerosis is associated with low endogenous NCAM. J Neurochem , 125 (5) 766 - 773. 10.1111/jnc.12236. Green open access
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Griffiths, WJ; Crick, PJ; Wang, Y; Ogundare, M; Tuschl, K; Morris, AA; Bigger, BW; ... Wang, Y; + view all (2013) Analytical strategies for characterization of oxysterol lipidomes: Liver X receptor ligands in plasma. Free Radical Biology and Medicine , 59 69 - 84. 10.1016/j.freeradbiomed.2012.07.027. Green open access
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H

Halbritter, J; Bizet, AA; Schmidts, M; Porath, JD; Braun, DA; Gee, HY; McInerney-Leo, AM; ... Hildebrandt, F; + view all (2013) Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans. Am J Hum Genet , 93 (5) pp. 915-925. 10.1016/j.ajhg.2013.09.012. Green open access
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Hernandez-Hernandez, V; Pravincumar, P; Diaz-Font, A; May-Simera, H; Jenkins, D; Knight, M; Beales, PL; (2013) Bardet-Biedl syndrome proteins control cilia length through regulation of actin polymerisation. Human Molecular Genetics , 22 (19) pp. 3858-3868. 10.1093/hmg/ddt241. Green open access
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K

Karampetsou, E; Morrogh, D; Ballard, T; Waters, JJ; Lench, N; Chitty, LS; (2013) Confined placental mosaicism: implications for fetal chromosomal analysis using microarray comparative genomic hybridization. Prenatal Diagnosis , 34 (1) pp. 98-101. 10.1002/pd.4255. Green open access
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Kasperaviciute, D; Catarino, CB; Matarin, M; Leu, C; Novy, J; Tostevin, A; Leal, B; ... Sisodiya, SM; + view all (2013) Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A. Brain: A Journal of Neurology , 136 (10) pp. 3140-3150. 10.1093/brain/awt233. Green open access
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Kenny, GD; Bienemann, AS; Tagalakis, AD; Pugh, JA; Welser, K; Campbell, F; Tabor, AB; ... Hart, SL; + view all (2013) Multifunctional receptor-targeted nanocomplexes for the delivery of therapeutic nucleic acids to the brain. Biomaterials , 34 (36) pp. 9190-9200. 10.1016/j.biomaterials.2013.07.081. Green open access
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Kinsler, VA; Thomas, AC; Ishida, M; Bulstrode, NW; Loughlin, S; Hing, S; Chalker, J; ... Moore, GE; + view all (2013) Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS. Journal of Investigative Dermatology , 133 (9) pp. 2229-2236. 10.1038/jid.2013.70. Green open access
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Klebe, S; Golmard, JL; Nalls, MA; Saad, M; Singleton, AB; Bras, JM; Hardy, J; ... Wood, NW; + view all (2013) The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism. Journal of Neurology, Neurosurgery and Psychiatry , 84 (6) 666 - 673. 10.1136/jnnp-2012-304475. Green open access
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M

McInerney-Leo, AM; Schmidts, M; Cortés, CR; Leo, PJ; Gener, B; Courtney, AD; Gardiner, B; ... Wicking, C; + view all (2013) Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60. Am J Hum Genet , 93 (3) pp. 515-523. 10.1016/j.ajhg.2013.06.022. Green open access
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Meng, QH; Irvine, S; Tagalakis, AD; McAnulty, RJ; McEwan, JR; Hart, SL; (2013) Inhibition of neointimal hyperplasia in a rabbit vein graft model following non-viral transfection with human iNOS cDNA. Gene Therapy , 20 (10) 979 -986. 10.1038/gt.2013.20. Green open access
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Mitrpant, C; Porensky, P; Zhou, H; Price, L; Muntoni, F; Fletcher, S; Wilton, SD; (2013) Improved Antisense Oligonucleotide Design to Suppress Aberrant SMN2 Gene Transcript Processing: Towards a Treatment for Spinal Muscular Atrophy. PLoS One , 8 (4) , Article e62114. 10.1371/journal.pone.0062114. Green open access
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Moore, GE; Stanier, P; (2013) Fat dads must not be blamed for their children's health problems. BMC Medicine , 11 , Article 30. 10.1186/1741-7015-11-30. Green open access
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O

Onoufriadis, A; Shoemark, A; Munye, MM; James, CT; Schmidts, M; Patel, M; Rosser, EM; ... Mitchison, HM; + view all (2013) Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm. Journal of Medical Genetics 10.1136/jmedgenet-2013-101938. Green open access
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Oxenford, K; Hill, M; Chitty, L; Silcock, C; (2013) Routine testing of fetal Rhesus D status in Rhesus D negative women using cell-free fetal DNA: An investigation into the preferences and information needs of women. Prenatal Diagnosis , 33 (7) 688 - 694. 10.1002/pd.4135. Green open access
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P

Pearce, LR; Atanassova, N; Banton, MC; Bottomley, B; van der Klaauw, AA; Revelli, JP; Hendricks, A; ... Farooqi, IS; + view all (2013) KSR2 mutations are associated with obesity, insulin resistance, and impaired cellular fuel oxidation. Cell , 155 (4) pp. 765-777. 10.1016/j.cell.2013.09.058. Green open access
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R

Rahman, S; Footitt, EJ; Varadkar, S; Clayton, PT; (2013) Inborn errors of metabolism causing epilepsy. Dev Med Child Neurol , 55 (1) 23 - 36. 10.1111/j.1469-8749.2012.04406.x. Green open access
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Rahman, SA; (2013) Investigating the role of gut hormones in energy and glucose homeostasis. Doctoral thesis (PhD), UCL (University College London). Green open access
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Ramasamy, A; Trabzuni, D; Gibbs, JR; Dillman, A; Hernandez, DG; Arepalli, S; Walker, R; ... Weale, ME; + view all (2013) Resolving the polymorphism-in-probe problem is critical for correct interpretation of expression QTL studies. Nucleic Acids Research , 41 (7) , Article e88. 10.1093/nar/gkt069. Green open access
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Robinson, A; Partridge, D; Malhas, A; De Castro, SC; Gustavsson, P; Thompson, DN; Vaux, DJ; ... Greene, ND; + view all (2013) Is LMNB1 a susceptibility gene for neural tube defects in humans? Birth Defects Research Part A: Clinical and Molecular Teratology , 97 (6) pp. 398-402. 10.1002/bdra.23141. Green open access
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Rymen, D; Peanne, R; Millón, MB; Race, V; Sturiale, L; Garozzo, D; Mills, P; ... Matthijs, G; + view all (2013) MAN1B1 Deficiency: An Unexpected CDG-II. PLoS Genetics , 9 (12) , Article e1003989. 10.1371/journal.pgen.1003989. Green open access
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S

Schmidts, M; Vodopiutz, J; Christou-Savina, S; Cortés, CR; McInerney-Leo, AM; Emes, RD; Arts, HH; ... Mitchison, HM; + view all (2013) Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy. The American Journal of Human Genetics , 93 (5) 932 - 944. 10.1016/j.ajhg.2013.10.003. Green open access
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Shahni, R; Wedatilake, Y; Cleary, MA; Lindley, KJ; Sibson, KR; Rahman, S; (2013) A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations. American Journal of Medical Genetics Part A , 161 (9) pp. 2334-2338. 10.1002/ajmg.a.36065. Green open access
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T

Trabzuni, D; Ramasamy, A; Imran, S; Walker, R; Smith, C; Weale, ME; Hardy, J; ... North American Brain Expression Consortium, ; + view all (2013) Widespread sex differences in gene expression and splicing in the adult human brain. Nat Commun , 4 , Article 2771. 10.1038/ncomms3771. Green open access
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Trabzuni, D; Ryten, M; Emmett, W; Ramasamy, A; Lackner, KJ; Zeller, T; Walker, R; ... Plagnol, V; + view all (2013) Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 Locus. PLOS ONE , 8 (8) , Article e70724. 10.1371/journal.pone.0070724. Green open access
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Tucci, A; Liu, YT; Preza, E; Pitceathly, RD; Chalasani, A; Plagnol, V; Land, JM; ... Houlden, H; + view all (2013) Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy. Journal of Neurology, Neurosurgery & Psychiatry 10.1136/jnnp-2013-306387. Green open access
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W

Webb, EA; O'Reilly, MA; Clayden, JD; Seunarine, KK; Dale, N; Salt, A; Clark, CA; (2013) Reduced ventral cingulum integrity and increased behavioral problems in children with isolated optic nerve hypoplasia and mild to moderate or no visual impairment. PLoS One , 8 (3) , Article e59048. 10.1371/journal.pone.0059048. Green open access
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Wedatilake, Y; Brown, R; McFarland, R; Yaplito-Lee, J; Morris, AA; Champion, M; Jardine, PE; ... Rahman, S; + view all (2013) SURF1 deficiency: a multi-centre natural history study. Orphanet Journal of Rare Diseases , 8 (1) , Article 96. 10.1186/1750-1172-8-96. Green open access
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Williams, CE; Nakhal, RS; Achermann, JC; Creighton, SM; (2013) Persistent unexplained congenital clitoromegaly in females born extremely prematurely. Journal of Pediatric Urology , 9 (6/A) pp. 962-965. 10.1016/j.jpurol.2013.03.001. Green open access
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Wu, JY; McGown, IN; Lin, L; Achermann, JC; Harris, M; Cowley, DM; Aftimos, S; ... Cotterill, AM; + view all (2013) A novel NR5A1 variant in an infant with elevated testosterone from an Australasian cohort of 46,XY patients with disorders of sex development. Clinical Endocrinology , 78 (4) 545 - 550. 10.1111/cen.12012. Green open access
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Z

Zhou, H; Rokach, O; Feng, L; Munteanu, I; Mamchaoui, K; Wilmshurst, JM; Sewry, C; ... Muntoni, F; + view all (2013) RyR1 Deficiency in Congenital Myopathies Disrupts Excitation-Contraction Coupling. Human Mutation , 34 (7) pp. 986-996. 10.1002/humu.22326. Green open access
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This list was generated on Mon Apr 12 01:23:30 2021 BST.