UCL Discovery
UCL home » Library Services » Electronic resources » UCL Discovery

Browse by UCL Departments and Centres

Up a level
Export as [feed] Atom [feed] RSS 1.0 [feed] RSS 2.0
Group by: Author | Type
Jump to: A | B | C | E | F | G | H | I | K | M | N | O | P | R | S | T | V | W
Number of items: 55.

A

Achermann, JC; Domenice, S; Bachega, TASS; Nishi, MY; Mendonca, BB; (2015) Disorders of sex development: effect of molecular diagnostics. Nature Reviews Endocrinology , 11 (8) pp. 478-488. 10.1038/nrendo.2015.69. Green open access
file

B

Barber, JL; Sebire, NJ; Chitty, LS; Taylor, AM; Arthurs, OJ; (2015) Lung aeration on post-mortem magnetic resonance imaging is a useful marker of live birth versus stillbirth. Int J Legal Med , 129 (3) 531 - 536. 10.1007/s00414-014-1125-7. Green open access
file

Bond, ME; Brown, R; Rallis, C; Bahler, J; Mole, SE; (2015) A central role for TOR signalling in a yeast model for juvenile CLN3 disease. Microbial Cell , 2 (12) pp. 466-480. 10.15698/mic2015.12.241. Green open access
file

Broomfield, A; Sweeney, MG; Woodward, CE; Fratter, C; Morris, AM; Leonard, JV; Abulhoul, L; ... Rahman, S; + view all (2015) Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease. Journal of Inherited Metabolic Disease , 38 (3) pp. 445-457. 10.1007/s10545-014-9778-4. Green open access
file

Brown, AC; Bryant, JM; Einer-Jensen, K; Holdstock, J; Houniet, DT; Chan, JZ; Depledge, DP; ... Breuer, J; + view all (2015) Rapid Whole-Genome Sequencing of Mycobacterium tuberculosis Isolates Directly from Clinical Samples. Journal of Clinical Microbiology , 53 (7) pp. 2230-2237. 10.1128/JCM.00486-15. Green open access
file

Buckley, SM; Delhove, JM; Perocheau, DP; Karda, R; Rahim, AA; Howe, SJ; Ward, NJ; ... McKay, TR; + view all (2015) In vivo bioimaging with tissue-specific transcription factor activated luciferase reporters. Scientific Reports , 5 , Article 11842. 10.1038/srep11842. Green open access
file

C

Charlesworth, G; Angelova, PR; Bartolomé-Robledo, F; Ryten, M; Trabzuni, D; Stamelou, M; Abramov, AY; ... Wood, NW; + view all (2015) Mutations in HPCA cause autosomal-recessive primary isolated dystonia. American Journal of Human Genetics , 96 (4) pp. 657-665. 10.1016/j.ajhg.2015.02.007. Green open access
file

Choi, L; Vernon, J; Kopach, O; Minett, MS; Mills, K; Clayton, PT; Meert, T; (2015) The Fabry disease-associated lipid Lyso-Gb3 enhances voltage-gated calcium currents in sensory neurons and causes pain. Neurosci Lett , 594 163 - 168. 10.1016/j.neulet.2015.01.084. Green open access
file

Clark, O; Park, I; Di Florio, A; Cichon, AC; Rustin, S; Jugov, R; Maeshima, R; (2015) Oxovanadium-based inhibitors can drive redox-sensitive cytotoxicity in neuroblastoma cells and synergise strongly with buthionine sulfoximine. Cancer Lett , 357 (1) 316 - 327. 10.1016/j.canlet.2014.11.039. Green open access
file

Cole, TJ; Ahmed, ML; Preece, MA; Hindmarsh, P; Dunger, DB; (2015) The relationship between Insulin-like Growth Factor 1, sex steroids and timing of the pubertal growth spurt. Clinical Endocrinology , 82 (6) pp. 862-869. 10.1111/cen.12682. Green open access
file

Copp, AJ; Adzick, NS; Chitty, LS; Fletcher, JM; Holmbeck, GN; Shaw, GM; (2015) Spina bifida. Nature Reviews Disease Primers , 1 , Article 15007. 10.1038/nrdp.2015.7. Green open access
file

E

Estapé, A; Josifova, D; Rampling, D; Glover, M; Kinsler, VA; (2015) Congenital hemidysplasia with ichthyosiform naevus and limb defects (CHILD) syndrome without hemidysplasia. British Journal of Dermatololgy , 173 (1) pp. 304-307. 10.1111/bjd.13636. Green open access
file

Everett, TR; Chitty, LS; (2015) Cell-free fetal DNA: the new tool in fetal medicine. Ultrasound Obstet Gynecol , 45 (5) 499 - 507. 10.1002/uog.14746. Green open access
file

F

Forsythe, E; Sparks, K; Hoskins, BE; Bagkeris, E; McGowan, BM; Carroll, PV; Huda, MS; ... Beales, PL; + view all (2015) Genetic predictors of cardiovascular morbidity in Bardet-Biedl syndrome. Clin Genet , 87 (4) 343 - 349. 10.1111/cge.12373. Green open access
file

Fuggle, NR; Bragoli, W; Mahto, A; Glover, M; Martinez, AE; Kinsler, VA; (2015) The adverse effect profile of oral azathioprine in pediatric atopic dermatitis, and recommendations for monitoring. Journal of the American Academy of Dermatology , 72 (1) pp. 108-114. 10.1016/j.jaad.2014.08.048. Green open access
file

G

Gissen, P; Arias, IM; (2015) Structural and functional hepatocyte polarity and liver disease. Journal of Hepatology , 63 (4) pp. 1023-1037. 10.1016/j.jhep.2015.06.015. Green open access
file

H

Heywood, WE; Camuzeaux, S; Doykov, I; Patel, N; Preece, RL; Footitt, E; Cleary, M; ... Mills, K; + view all (2015) Proteomic Discovery and Development of a Multiplexed Targeted MRM-LC-MS/MS Assay for Urine Biomarkers of Extracellular Matrix Disruption in Mucopolysaccharidoses I, II, and VI. Analytical Chemistry , 87 (24) pp. 12238-12244. 10.1021/acs.analchem.5b03232. Green open access
file

Heywood, WE; Galimberti, D; Bliss, E; Sirka, E; Paterson, RW; Magdalinou, NK; Carecchio, M; ... Mills, K; + view all (2015) Identification of novel CSF biomarkers for neurodegeneration and their validation by a high-throughput multiplexed targeted proteomic assay. Molecular Neurodegeneration , 10 , Article 64. 10.1186/s13024-015-0059-y. Green open access
file

Huang, J; Howie, B; McCarthy, S; Memari, Y; Walter, K; Min, JL; Danecek, P; ... Soranzo, N; + view all (2015) Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel. Nature Communications , 6 (811) 10.1038/ncomms9111. Green open access
file

Huntington, SE; (2015) The risk of viral rebound in the year after delivery in women remaining on antiretroviral therapy. AIDS , 29 (17) pp. 2269-2278. 10.1097/QAD.0000000000000826. Green open access
file

I

Ivins, S; Chappell, J; Vernay, B; Suntharalingham, J; Martineau, A; Mohun, TJ; Scambler, PJ; (2015) The CXCL12/CXCR4 Axis Plays a Critical Role in Coronary Artery Development. Developmental Cell , 33 (4) pp. 455-468. 10.1016/j.devcel.2015.03.026. Green open access
file

K

Kinsler, VA; Drury, S; Khan, A; Waelchli, R; Rukaite, G; Barnicoat, A; Lench, N; ... O'Shaughnessy, RF; + view all (2015) A novel microdeletion in LOR causing autosomal dominant loricrin keratoderma. Br J Dermatol , 172 (1) 262 - 264. 10.1111/bjd.13361. Green open access
file

Kohan, R; Mole, SE; Cotman, SL; (2015) Special issue: Molecular basis of NCL. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease , 1852 (10 Pt B) pp. 2235-2236. 10.1016/j.bbadis.2015.06.023. Green open access
file

M

Marotta, D; (2015) Defining the role of the Golgi apparatus in juvenile NCL (Batten disease). Doctoral thesis , UCL (University College London). Green open access
file

Mazarello Paes, V; Charalampopoulos, D; Khanolkar, AR; Taylor-Robinson, D; Viner, R; Edge, J; Stephenson, T; (2015) Protocol for systematic review of evidence on the determinants and influence of early glycaemic control in childhood-onset type 1 diabetes. Systematic Reviews , 4 (1) , Article 159. 10.1186/s13643-015-0146-8. Green open access
file

McCabe, MJ; Hu, Y; Gregory, LC; Gaston-Massuet, C; Alatzoglou, KS; Saldanha, JW; Gualtieri, A; ... Dattani, MT; + view all (2015) Novel application of luciferase assay for the in vitro functional assessment of KAL1 variants in three females with septo-optic dysplasia (SOD). Molecular and Cellular Endocrinology , 417 pp. 63-72. 10.1016/j.mce.2015.09.010. Green open access
file

Mencacci, NE; Erro, R; Wiethoff, S; Hersheson, J; Ryten, M; Balint, B; Ganos, C; ... Bhatia, KP; + view all (2015) ADCY5 mutations are another cause of benign hereditary chorea. Neurology , 85 (1) pp. 80-88. 10.1212/WNL.0000000000001720. Green open access
file

Mencacci, NE; Rubio-Agusti, I; Zdebik, A; Asmus, F; Ludtmann, MH; Ryten, M; Plagnol, V; ... Wood, NW; + view all (2015) A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia. Am J Hum Genet , 96 (6) pp. 938-947. 10.1016/j.ajhg.2015.04.008. Green open access
file

Mendioroz, M; Do, C; Jiang, X; Liu, C; Darbary, HK; Lang, CF; Lin, J; ... Tycko, B; + view all (2015) Trans effects of chromosome aneuploidies on DNA methylation patterns in human Down syndrome and mouse models. Genome Biology , 16 , Article 263. 10.1186/s13059-015-0827-6. Green open access
file

Moazen, M; Peskett, E; Babbs, C; Pauws, E; Fagan, MJ; (2015) Mechanical properties of calvarial bones in a mouse model for craniosynostosis. PLoS One , 10 (5) , Article e0125757. 10.1371/journal.pone.0125757. Green open access
file

Moore, GE; Ishida, M; Demetriou, C; Al-Olabi, L; Leon, LJ; Thomas, AC; Abu-Amero, S; ... Stanier, P; + view all (2015) The role and interaction of imprinted genes in human fetal growth. Philos Trans R Soc Lond B Biol Sci , 370 (1663) , Article 20140074 . 10.1098/rstb.2014.0074. Green open access
file

Munye, MM; Ravi, J; Tagalakis, AD; McCarthy, D; Ryadnov, MG; Hart, SL; (2015) Role of liposome and peptide in the synergistic enhancement of transfection with a lipopolyplex vector. Sci Rep , 5 , Article 9292. 10.1038/srep09292. Green open access
file

N

Nivsarkar, MS; Buckley, SM; Parker, AL; Perocheau, D; McKay, TR; Rahim, AA; Howe, SJ; (2015) Evidence for Contribution of CD4+CD25+ Regulatory T Cells in Maintaining Immune Tolerance to Human Factor IX following Perinatal Adenovirus Vector Delivery. Journal of Immunology Research , 2015 , Article 397879. 10.1155/2015/397879. Green open access
file

O

O'Sullivan, M; Rutland, P; Lucas, D; Ashton, E; Hendricks, S; Rahman, S; Bitner-Glindzicz, M; (2015) Mitochondrial m.1584A 12S m62A rRNA methylation in families with m.1555A>G associated hearing loss. Human Molecular Genetics , 24 (4) pp. 1036-1044. 10.1093/hmg/ddu518. Green open access
file

P

Pai, YJ; Leung, KY; Savery, D; Hutchin, T; Prunty, H; Heales, S; Brosnan, ME; ... Greene, ND; + view all (2015) Glycine decarboxylase deficiency causes neural tube defects and features of non-ketotic hyperglycinemia in mice. Nat Commun , 6 , Article 6388. 10.1038/ncomms7388. Green open access
file

Patel, N; Gold, MG; (2015) The genetically encoded tool set for investigating cAMP: more than the sum of its parts. Frontiers in Pharmacology , 6 , Article 164. 10.3389/fphar.2015.00164. Green open access
file

Pawlikowski, JS; Brock, C; Chen, SC; Al-Olabi, L; Nixon, C; McGregor, F; Paine, S; ... Adams, PD; + view all (2015) Acute Inhibition of MEK Suppresses Congenital Melanocytic Nevus Syndrome in a Murine Model Driven by Activated NRAS and Wnt Signaling. Journal of Investigative Dermatology , 135 (8) pp. 2093-2101. 10.1038/jid.2015.114. Green open access
file

Perchard, R; MacDonald, D; Say, J; Pitts, J; Pye, S; Allgrove, J; Banerjee, K; (2015) Islet autoantibody status in a multi-ethnic UK clinic cohort of children presenting with diabetes. Arch Dis Child , 100 (4) pp. 348-352. 10.1136/archdischild-2014-306542. Green open access
file

Pitceathly, RD; Morrow, JM; Sinclair, CD; Woodward, C; Sweeney, MG; Rahman, S; Plant, GT; ... Thornton, JS; + view all (2015) Extra-ocular muscle MRI in genetically-defined mitochondrial disease. European Radiology 10.1007/s00330-015-3801-5. (In press). Green open access
file

R

Raman, S; Klein, N; Kwan, A; Hubank, M; Rahman, S; Rashid, A; Peters, MJ; (2015) Oxidative phosphorylation gene expression falls at onset and throughout the development of meningococcal sepsis-induced multi-organ failure in children. Intensive Care Med , 41 (8) pp. 1489-1490. 10.1007/s00134-015-3817-y. Green open access
file

Rees, E; Kirov, G; Walters, JT; Richards, AL; Howrigan, D; Kavanagh, DH; Pocklington, AJ; ... O'Donovan, MC; + view all (2015) Analysis of exome sequence in 604 trios for recessive genotypes in schizophrenia. Translational Psychiatry , 5 , Article e607. 10.1038/tp.2015.99. Green open access
file

Rudge, P; Jaunmuktane, Z; Adlard, P; Bjurstrom, N; Caine, D; Lowe, J; Norsworthy, P; ... Collinge, J; + view all (2015) Iatrogenic CJD due to pituitary-derived growth hormone with genetically determined incubation times of up to 40 years. Brain , 138 (Pt 11) pp. 3386-3399. 10.1093/brain/awv235. Green open access
file

S

Schmidts, M; Hou, Y; Cortés, CR; Mans, DA; Huber, C; Boldt, K; Patel, M; ... Witman, GB; + view all (2015) TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nature Communications , 6 , Article 7074. 10.1038/ncomms8074. Green open access
filefile

Shaheen, R; Schmidts, M; Faqeih, E; Hashem, A; Lausch, E; Holder, I; Superti-Furga, A; ... Alkuraya, FS; + view all (2015) A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies. Hum Mol Genet , 24 (5) 1410 - 1419. 10.1093/hmg/ddu555. Green open access
file

Shahni, R; Cale, CM; Anderson, G; Osellame, LD; Hambleton, S; Jacques, S; Wadatilake, Y; ... Rahman, S; + view all (2015) Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission. Brain , 138 (10) pp. 2834-2846. 10.1093/brain/awv182. Green open access
file

Stödberg, T; McTague, A; Ruiz, AJ; Hirata, H; Zhen, J; Long, P; Farabella, I; ... Kurian, MA; + view all (2015) Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures. Nature Communications , 6 p. 8038. 10.1038/ncomms9038. Green open access
filefile

Suntharalingham, JP; Buonocore, F; Duncan, AJ; Achermann, JC; (2015) DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease. Best Practice & Research Clinical Endocrinology & Metabolism , 29 (4) pp. 607-619. 10.1016/j.beem.2015.07.004. Green open access
file

T

Tagalakis, AD; Castellaro, S; Zhou, H; Bienemann, A; Munye, MM; McCarthy, D; White, EA; (2015) A method for concentrating lipid peptide DNA and siRNA nanocomplexes that retains their structure and transfection efficiency. Int J Nanomedicine , 10 2673 - 2683. 10.2147/IJN.S78935. Green open access
file

V

Vieira, MCD; (2015) Towards therapy for Batten disease. Doctoral thesis , UCL (University College London). Green open access
file

W

Waelchi, R; Williams, J; Cole, T; Dattani, M; Hindmarsh, P; Kennedy, H; Martinez, A; ... Kinsler, V; + view all (2015) Growth and hormonal profiling in children with congenital melanocytic naevi. British Journal of Dermatology , 173 pp. 1471-1478. 10.1111/bjd.14091. Green open access
file

Waelchli, R; Aylett, SE; Atherton, D; Thompson, DJ; Chong, WK; Kinsler, VA; (2015) Classification of neurological abnormalities in children with congenital melanocytic naevus syndrome identifies magnetic resonance imaging as the best predictor of clinical outcome. British Journal of Dermatology , 173 (3) pp. 739-750. 10.1111/bjd.13898. Green open access
file

Walter, K; Min, JL; Huang, J; Crooks, L; Memari, Y; McCarthy, S; Perry, JRB; ... Zhang, W; + view all (2015) The UK10K project identifies rare variants in health and disease. Nature , 526 (7571) pp. 82-90. 10.1038/nature14962. Green open access
file

Waters, AM; Asfahani, R; Carroll, P; Bicknell, L; Lescai, F; Bright, A; Chanudet, E; ... Beales, PL; + view all (2015) The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes. Journal of Medical Genetics , 52 (3) pp. 147-156. 10.1136/jmedgenet-2014-102691. Green open access
file

Wavre-Shapton, ST; Calvi, AA; Turmaine, M; Seabra, MC; Cutler, DF; Futter, CE; Mitchison, HM; (2015) Photoreceptor phagosome processing defects and disturbed autophagy in retinal pigment epithelium of Cln3Δex1-6 mice modelling juvenile neuronal ceroid lipofuscinosis (Batten disease). Human Molecular Genetics , 24 (24) pp. 7060-7074. 10.1093/hmg/ddv406. Green open access
file

Wedatilake, Y; Plagnol, V; Anderson, G; Paine, SM; Clayton, PT; Jacques, TS; Rahman, S; (2015) Tubular aggregates caused by serine active site containing 1 (SERAC1) mutations in a patient with a mitochondrial encephalopathy. Neuropathol Appl Neurobiol , 41 (3) 399 - 402. 10.1111/nan.12190. Green open access
file

This list was generated on Sat Apr 10 21:30:44 2021 BST.