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Number of items: 39.
Article
Arthurs, OJ;
Thayyil, S;
Olsen, OE;
Addison, S;
Wade, A;
Jones, R;
Norman, W;
... Owens, CM; + view all
(2014)
Diagnostic accuracy of post-mortem MRI for thoracic abnormalities in fetuses and children.
European Radiology
, 24
(11)
pp. 2876-2884.
10.1007/s00330-014-3313-8.
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Bitner-Glindzicz, M;
Rahman, S;
Chant, K;
Marlow, N;
(2014)
Gentamicin, genetic variation and deafness in preterm children.
BMC Pediatr
, 14
(1)
, Article 66. 10.1186/1471-2431-14-66.
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Chitty, LS;
Finning, K;
Wade, A;
Soothill, P;
Martin, B;
Oxenford, K;
Daniels, G;
(2014)
Diagnostic accuracy of routine antenatal determination of fetal RHD status across gestation: population based cohort study.
BMJ
, 349
, Article g5243. 10.1136/bmj.g5243.
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Christiansen, MT;
Brown, AC;
Kundu, S;
Tutill, HJ;
Williams, R;
Brown, JR;
Holdstock, J;
... Breuer, J; + view all
(2014)
Whole-genome enrichment and sequencing of Chlamydia trachomatis directly from clinical samples.
BMC Infect Dis
, 14
(1)
, Article 591. 10.1186/s12879-014-0591-3.
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David, AL;
Holloway, A;
Thomasson, L;
Syngelaki, A;
Nicolaides, K;
Patel, RR;
Sommerlad, B;
... Chitty, LS; + view all
(2014)
A case-control study of maternal periconceptual and pregnancy recreational drug use and fetal malformation using hair analysis.
PLoS One
, 9
(10)
, Article e111038 . 10.1371/journal.pone.0111038.
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Demetriou, C;
Abu-Amero, S;
Thomas, AC;
Ishida, M;
Aggarwal, R;
Al-Olabi, L;
Leon, LJ;
... Moore, GE; + view all
(2014)
Paternally expressed, imprinted insulin-like growth factor-2 in chorionic villi correlates significantly with birth weight.
PLoS One
, 9
(1)
, Article e85454. 10.1371/journal.pone.0085454.
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Du, Z;
Munye, MM;
Tagalakis, AD;
Manunta, MD;
Hart, SL;
(2014)
The role of the helper lipid on the DNA transfection efficiency of lipopolyplex formulations.
Sci Rep
, 4
7107 - ?.
10.1038/srep07107.
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Dunn, L;
Allen, GF;
Mamais, A;
Ling, H;
Li, A;
Duberley, KE;
Hargreaves, IP;
... Bandopadhyay, R; + view all
(2014)
Dysregulation of glucose metabolism is an early event in sporadic Parkinson's disease.
Neurobiol Aging
, 35
(5)
pp. 1111-1115.
10.1016/j.neurobiolaging.2013.11.001.
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Hart, SL;
(2014)
Cystic fibrosis findings.
International Innovation
(131)
pp. 78-80.
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Hill, M;
Suri, R;
Nash, E;
Morris, S;
Chitty, L;
(2014)
Preferences for Prenatal Tests for Cystic Fibrosis: A Discrete Choice Experiment to Compare the Views of Adult Patients, Carriers of Cystic Fibrosis and Health Professionals.
Journal of Clinical Medicine
, 3
(1)
176 - 190.
10.3390/jcm3010176.
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Hill, M;
Wright, D;
Daley, R;
Lewis, C;
McKay, F;
Mason, S;
Lench, N;
... Chitty, LS; + view all
(2014)
Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol.
BMC Pregnancy Childbirth
, 14
(1)
, Article 229. 10.1186/1471-2393-14-229.
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Hjeij, R;
Onoufriadis, A;
Watson, CM;
Slagle, CE;
Klena, NT;
Dougherty, GW;
Kurkowiak, M;
... Mitchison, HM; + view all
(2014)
CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.
Am J Hum Genet
, 95
(3)
257 - 274.
10.1016/j.ajhg.2014.08.005.
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Kalliolia, E;
Silajdžić, E;
Nambron, R;
Hill, NR;
Doshi, A;
Frost, C;
Watt, H;
... Warner, TT; + view all
(2014)
Plasma melatonin is reduced in Huntington's disease.
Movement Disorders
10.1002/mds.26003.
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Kanabus, M;
Heales, SJ;
Rahman, S;
(2014)
Development of Pharmacological Strategies for Mitochondrial Disorders.
Br J Pharmacol
, 171
(8)
pp. 1798-1817.
10.1111/bph.12456.
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Karda, R;
Buckley, SM;
Mattar, CN;
Ng, J;
Massaro, G;
Hughes, MP;
Kurian, MA;
... Rahim, AA; + view all
(2014)
Perinatal systemic gene delivery using adeno-associated viral vectors.
Front Mol Neurosci
, 7
, Article 89. 10.3389/fnmol.2014.00089.
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Kelberman, D;
Islam, L;
Lakowski, J;
Bacchelli, C;
Chanudet, E;
Lescai, F;
Patel, A;
... Sowden, JC; + view all
(2014)
Mutation of SALL2 causes recessive ocular coloboma in humans and mice.
Hum Mol Genet
, 23
(10)
pp. 2511-2526.
10.1093/hmg/ddt643.
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Kinsler, VA;
Krengel, S;
Riviere, JB;
Waelchli, R;
Chapusot, C;
Al-Olabi, L;
Faivre, L;
... Vabres, P; + view all
(2014)
Next Generation Sequencing of Nevus Spilus-Type Congenital Melanocytic Nevus: Exquisite Genotype-Phenotype Correlation in Mosaic RASopathies.
[Letter].
J Invest Dermatol
, 134
pp. 2658-2660.
10.1038/jid.2014.195.
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Knowles, RL;
Khalid, JM;
Oerton, JM;
Hindmarsh, PC;
Kelnar, CJ;
Dezateux, C;
(2014)
Late clinical presentation of congenital adrenal hyperplasia in older children: findings from national paediatric surveillance.
Archives of Disease in Childhood
, 99
(1)
pp. 30-34.
10.1136/archdischild-2012-303070.
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Kristiansen, M;
Ham, J;
(2014)
Programmed cell death during neuronal development: the sympathetic neuron model.
Cell Death Differ
, 21
(7)
pp. 1025-1035.
10.1038/cdd.2014.47.
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Lo, KK;
Boustred, C;
Chitty, LS;
Plagnol, V;
(2014)
RAPIDR: an analysis package for non-invasive prenatal testing of aneuploidy.
Bioinformatics
, 30
(20)
pp. 2965-2967.
10.1093/bioinformatics/btu419.
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Lucas, JS;
Burgess, A;
Mitchison, HM;
Moya, E;
Williamson, M;
Hogg, C;
National PCD Service, UK, .;
(2014)
Diagnosis and management of primary ciliary dyskinesia.
Arch Dis Child
, 99
(9)
850 - 856.
10.1136/archdischild-2013-304831.
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Meyer, R;
De Koker, C;
Dziubak, R;
Godwin, H;
Dominguez-Ortega, G;
Shah, N;
(2014)
Dietary elimination of children with food protein induced gastrointestinal allergy – micronutrient adequacy with and without a hypoallergenic formula?
Clinical and Translational Allergy
, 4
(1)
, Article 31. 10.1186/2045-7022-4-31.
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Mills, PB;
Camuzeaux, SS;
Footitt, EJ;
Mills, KA;
Gissen, P;
Fisher, L;
Das, KB;
... Clayton, PT; + view all
(2014)
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.
Brain
, 137
(5)
pp. 1350-1360.
10.1093/brain/awu051.
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Morris, S;
Karlsen, S;
Chung, N;
Hill, M;
Chitty, LS;
(2014)
Model-Based Analysis of Costs and Outcomes of Non-Invasive Prenatal Testing for Down's Syndrome Using Cell Free Fetal DNA in the UK National Health Service.
PLoS One
, 9
(4)
, Article e93559. 10.1371/journal.pone.0093559.
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Ng, J;
Heales, SJ;
Kurian, MA;
(2014)
Clinical Features and Pharmacotherapy of Childhood Monoamine Neurotransmitter Disorders.
Pediatric Drugs
, 16
(4)
pp. 275-291.
10.1007/s40272-014-0079-z.
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Onoufriadis, A;
Shoemark, A;
Schmidts, M;
Patel, M;
Jimenez, G;
Liu, H;
Thomas, B;
... Mitchison, HM; + view all
(2014)
Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central-pair agenesis due to radial spoke defects.
Hum Mol Genet
, 23
(13)
pp. 3362-3374.
10.1093/hmg/ddu046.
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Ripoll, VM;
Lambrianides, A;
Pierangeli, SS;
Poulton, K;
Ioannou, Y;
Heywood, WE;
Mills, K;
... Giles, IP; + view all
(2014)
Changes in regulation of human monocyte proteins in response to IgG from patients with antiphospholipid syndrome.
Blood
10.1182/blood-2014-05-577569.
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Rozkalne, A;
Adkin, C;
Meng, J;
Lapan, A;
Morgan, JE;
Gussoni, E;
(2014)
Mouse Regenerating Myofibers Detected as False-Positive Donor Myofibers with Anti-Human Spectrin.
Human Gene Therapy
, 25
(1)
73 - 81.
10.1089/hum.2013.126.
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Simpkin, A;
Cochran, E;
Cameron, F;
Dattani, M;
de Bock, M;
Dunger, DB;
Forsander, G;
... Bockenhauer, D; + view all
(2014)
Insulin Receptor and the Kidney: Nephrocalcinosis in Patients with Recessive INSR Mutations.
Nephron Physiology
, 128
(3-4)
10.1159/000366225.
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Subbarayan, A;
Dattani, MT;
Peters, CJ;
Hindmarsh, PC;
(2014)
Cardiovascular risk factors in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Clinical Endocrinology
, 80
(4)
471 - 477.
10.1111/cen.12265.
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Tagalakis, AD;
Kenny, GD;
Bienemann, AS;
McCarthy, D;
Munye, MM;
Taylor, H;
Wyatt, ML;
... Hart, SL; + view all
(2014)
PEGylation improves the receptor-mediated transfection efficiency of peptide-targeted, self-assembling, anionic nanocomplexes.
J Control Release
, 174
pp. 177-187.
10.1016/j.jconrel.2013.11.014.
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Tagalakis, AD;
Lee, DH;
Bienemann, AS;
Zhou, H;
Munye, MM;
Saraiva, L;
McCarthy, D;
... Hart, SL; + view all
(2014)
Multifunctional, self-assembling anionic peptide-lipid nanocomplexes for targeted siRNA delivery.
Biomaterials
, 35
(29)
pp. 8406-8415.
10.1016/j.biomaterials.2014.06.003.
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Theofilopoulos, S;
Griffiths, WJ;
Crick, PJ;
Yang, S;
Meljon, A;
Ogundare, M;
Kitambi, SS;
... Wang, Y; + view all
(2014)
Cholestenoic acids regulate motor neuron survival via liver X receptors.
Journal of Clinical Investigation
, 124
(11)
pp. 4829-4842.
10.1172/JCI68506.
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Thomas, AC;
Williams, H;
Seto-Salvia, N;
Bacchelli, C;
Jenkins, D;
O'Sullivan, M;
Mengrelis, K;
... Stanier, PM; + view all
(2014)
Mutations in SNX14 cause a distinctive autosomal recessive cerebellar ataxia and intellectual disability syndrome.
The American Journal of Human Genetics
, 95
(5)
pp. 611-621.
10.1016/j.ajhg.2014.10.007.
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Waelchli, R;
Aylett, SE;
Robinson, K;
Chong, WK;
Martinez, AE;
Kinsler, VA;
(2014)
New vascular classification of port-wine stains: improving prediction of Sturge-Weber risk.
British Journal of Dermatology
, 171
(4)
861 - 867.
10.1111/bjd.13203.
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Thesis
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Hanley, JE;
(2014)
The use of matrix attachment regions to enhance the in-vivo potency of rAAV vectors.
Doctoral thesis , UCL (University College London).
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Issler, N;
(2014)
Clinical, genetic and molecular studies into hereditary renal tubular proteinuria.
Doctoral thesis , UCL (University College London).
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Nessa, A;
(2014)
Understanding the molecular basis of Congenital Hyperinsulinism due to autosomal dominant ABCC8 and KCNJ11 mutations.
Doctoral thesis , UCL (University College London).
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Sundaram, V;
(2014)
Gene therapy for inherited retinal diseases.
Doctoral thesis , UCL (University College London).
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