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Number of items: 173.


Abel, F; Kilner, D; Sonnappa, S; (2012) Unusual breathing in a 7 year old. BMJ , 344 e3022 - ?.

Aljaaly, EAM; (2012) Factors affecting nutritional status and eating behaviours of adolescent girls in Saudi Arabia. Doctoral thesis, UCL (University College London). Green open access

Anderson, BH; Kasher, PR; Mayer, J; Szynkiewicz, M; Jenkinson, EM; Bhaskar, SS; ... Crow, YJ; + view all (2012) Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nat Genet , 44 (3) 338 - 342. 10.1038/ng.1084.

Archer, M.; (2012) Attachment in institutionalised and community children in China. Doctoral thesis, UCL (University College London). Green open access


Barnett, AN; Hudson, A; Hadjianastassiou, VG; Marks, SD; Reid, CJ; Maggs, TP; ... Mamode, N; + view all (2012) Distribution of ABO blood group antibody titers in pediatric patients awaiting renal transplantation: implications for organ allocation policy. Transplantation , 94 (4) 362 - 368. 10.1097/TP.0b013e31825b7608.

Barrett, AN; Baker, T; Lench, N; Chitty, LS; (2012) Non-invasive prenatal diagnosis for autosomal recessive disorders: a comparison of digital PCR and next generation sequencing for exclusion of paternal mutations. In: JOURNAL OF MEDICAL GENETICS. (pp. S99 - S99).

Barrett, AN; McDonnell, TC; Chan, KC; Chitty, LS; (2012) Digital PCR analysis of maternal plasma for noninvasive detection of sickle cell anemia. Clin Chem , 58 (6) 1026 - 1032. 10.1373/clinchem.2011.178939.

Barrett, AN; McKay, F; Fielding, S; Jenkins, L; Lench, N; Chitty, LS; (2012) Non-invasive prenatal diagnosis for skeletal dysplasias - Implementation into clinical practice. In: JOURNAL OF MEDICAL GENETICS. (pp. S40 - S40).

Berthouze, L; Farmer, SF; (2012) Adaptive time-varying detrended fluctuation analysis. J Neurosci Methods , 209 (1) 178 - 188. 10.1016/j.jneumeth.2012.05.030.

Bertsias, GK; Tektonidou, M; Amoura, Z; Aringer, M; Bajema, I; Berden, JH; ... European League Against Rheumatism and European Renal Association-European Dialysis and Transplant Association,; + view all (2012) Joint European League Against Rheumatism and European Renal Association-European Dialysis and Transplant Association (EULAR/ERA-EDTA) recommendations for the management of adult and paediatric lupus nephritis. Ann Rheum Dis , 71 (11) 1771 - 1782. 10.1136/annrheumdis-2012-201940.

Bolton, CE; Bush, A; Hurst, JR; Kotecha, S; McGarvey, L; Stocks, J; Walshaw, MJ; (2012) Are early life factors considered when managing respiratory disease? A British Thoracic Society survey of current practice. THORAX , 67 (12) 1110 - 1110. 10.1136/thoraxjnl-2012-202637.


Botcharova, M; Farmer, SF; Berthouze, L; (2012) Power-law distribution of phase-locking intervals does not imply critical interaction. Phys Rev E Stat Nonlin Soft Matter Phys , 86 (5 Pt 1) 051920 - ?.

Brown, C; Haringman, N; Davies, C; Gore, C; Hussain, M; Mieli-Vergani, G; ... Boyle, RJ; + view all (2012) High prevalence of food sensitisation in young children with liver disease: a clue to food allergy pathogenesis? Pediatr Allergy Immunol , 23 (8) 771 - 778. 10.1111/pai.12011.

Burch, M; Dedieu, N; (2012) Congenital heart disease. The national society journals present selected research that has driven recent advances in clinical cardiology. Heart , 98 (21) 1555 - 1561. 10.1136/heartjnl-2011-301538.


Chandak, P; Kessaris, N; Durkan, A; Owusu-Ansah, N; Patel, J; Veitch, P; ... Mamode, N; + view all (2012) Is laparoscopic donation safe for paediatric recipients?--a study of 85 paediatric recipients comparing open and laparoscopic donor nephrectomy. Nephrol Dial Transplant , 27 (2) 845 - 849. 10.1093/ndt/gfr315.


Chiesa, R; Veys, P; (2012) Reduced-intensity conditioning for allogeneic stem cell transplant in primary immune deficiencies. Expert Rev Clin Immunol , 8 (3) 255 - 266. 10.1586/eci.12.9.

Chitty, LS; Chatelain, P; Wolffenbuttel, KP; Aigrain, Y; (2012) Prenatal management of disorders of Sex development. Journal of Pediatric Urology , 8 (6) 576 - 584. 10.1016/j.jpurol.2012.10.012.

Chitty, LS; Chatelain, P; Wolffenbuttel, KP; Aigrain, Y; (2012) Prenatal management of disorders of sex development. J Pediatr Urol , 8 (6) 576 - 584. 10.1016/j.jpurol.2012.10.012.

Chitty, LS; Hill, M; White, H; Wright, D; Morris, S; (2012) Noninvasive prenatal testing for aneuploidy-ready for prime time? Am J Obstet Gynecol , 206 (4) 269 - 275. 10.1016/j.ajog.2012.02.021.

Chitty, LS; Kistler, J; Akolekar, R; Liddle, S; Nicolaides, K; Levett, L; (2012) Multiplex ligation-dependent probe amplification (MLPA): a reliable alternative for fetal chromosome analysis? J Matern Fetal Neonatal Med , 25 (8) 1383 - 1386. 10.3109/14767058.2011.636093.

Clarke, LA; Winchester, B; Giugliani, R; Tylki-Szymańska, A; Amartino, H; (2012) Biomarkers for the mucopolysaccharidoses: discovery and clinical utility. Mol Genet Metab , 106 (4) 395 - 402. 10.1016/j.ymgme.2012.05.003.

Constable, PA; Gaigg, SB; Bowler, DM; Thompson, DA; (2012) Motion and pattern cortical potentials in adults with high-functioning autism spectrum disorder. Documenta Ophthalmologica 1 - 9.

Cormack, F; Shipolini, A; Awad, W; Richardson, C; McCormack, D; Colleoni, L; ... Hogan, A; + view all (2012) A meta-analysis of cognitive outcome following coronary artery bypass graft surgery. Neuroscience and Biobehavioural Reviews , 23 (36) , Article 9.

Crocker, JC; Evans, MR; Butler, CC; Hood, K; Powell, CV; (2012) Carers' perspectives on the presentation of community-acquired pneumonia and empyema in children: a case series. BMJ Open , 2 (5) 10.1136/bmjopen-2012-001500.

Crocker, JC; Powell, CV; Evans, MR; Hood, K; Butler, CC; (2012) Paediatric pneumonia or empyema and prior antibiotic use in primary care: a case-control study. J Antimicrob Chemother , 67 (2) 478 - 487. 10.1093/jac/dkr462.


Davies, CL; Gore, C; Boyle, RJ; Marks, SD; (2012) The Prevalence Of De Novo Food Allergy In Paediatric Renal Transplant Recipients. PEDIATRIC NEPHROLOGY , 27 (9) 1632 - 1632.

Donkervoort, S; Hu, Y; Dastgir, J; Meilleur, K; Zou, Y; Foley, AR; ... Bonnemann, CG; + view all (2012) Possible mutation dependent mechanisms for intra-familial variation of severity in Collagen VI-Related Myopathies (COL6-RM). In: NEUROMUSCULAR DISORDERS. (pp. 829 - 829).

Dubé, KN; Bollini, S; Smart, N; Riley, PR; (2012) Thymosin β4 protein therapy for cardiac repair. Curr Pharm Des , 18 (6) 799 - 806.

Dube, KN; Riley, PR; Smart, NS; (2012) Thymosin beta 4 in neovascularisation of the ischaemic heart post myocardial infarction. In: CARDIOVASCULAR RESEARCH. (pp. S98 - S98).


Eapen, M; Ahn, KW; Orchard, PJ; Cowan, MJ; Davies, SM; Fasth, A; ... Baker, KS; + view all (2012) Long-term survival and late deaths after hematopoietic cell transplantation for primary immunodeficiency diseases and inborn errors of metabolism. Biol Blood Marrow Transplant , 18 (9) 1438 - 1445. 10.1016/j.bbmt.2012.03.003.

Eber, E; Carlsen, KCL; Turner, SW; Ross-Russelle, RI; Lindblad, A; Dankert-Roelse, JE; ... Hedlin, G; + view all (2012) Paediatrics in Amsterdam. European Respiratory Journal , 40 (1) 215 - 226. 10.1183/09031936.00226811.

Edwards, M; Lawson, Z; Morris, S; Evans, A; Harrison, S; Isaac, R; ... Powell, C; + view all (2012) The presence of radiological features on chest radiographs: how well do clinicians agree? Clin Radiol , 67 (7) 664 - 668. 10.1016/j.crad.2011.12.003.

Ellinghaus, E; Stanulla, M; Richter, G; Ellinghaus, D; te Kronnie, G; Cario, G; ... Franke, A; + view all (2012) Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia. Leukemia , 26 (5) 902 - 909. 10.1038/leu.2011.302.


Fernandes, JF; Rocha, V; Labopin, M; Neven, B; Moshous, D; Gennery, AR; ... Eurocord and Inborn Errors Working Party of European Group for Blood and Marrow Transplantation,; + view all (2012) Transplantation in patients with SCID: mismatched related stem cells or unrelated cord blood? Blood , 119 (12) 2949 - 2955. 10.1182/blood-2011-06-363572.

Fertleman, C; (2012) Clever Child.

Fertleman, C; (2012) Coping with Two: A Stress-free Guide to Managing a New Baby When You Have Another Child. Hay House, Inc

Fertleman, C; Cave, S; (2012) Your Baby Week By Week. Random House

Fine-Goulden, M; Fertleman, C; (2012) A questionnaire study of final year medical students investigating the factors influencing them to consider or reject a career in paediatrics. Archives of Disease in Childhood , 97 (Suppl 1) A178 - A179. 10.1136/archdischild-2012-301885.418.

Franck, LS; Scoppettuolo, LA; Wypij, D; Curley, MA; (2012) Validity and generalizability of the Withdrawal Assessment Tool-1 (WAT-1) for monitoring iatrogenic withdrawal syndrome in pediatric patients. Pain , 153 142 - 148.

Frigiola, A; (2012) Right ventricular outflow tract dysfunction following repair of congenital heart disease: Surgical solutions and clinical implications. Doctoral thesis, UCL (University College London).

Funnell, D; Fertleman, C; Carrey, L; Brierley, J; (2012) Quantitative valuation placed by children and teenagers on participation in two hypothetical research scenarios. J Med Ethics , 38 (11) 686 - 691. 10.1136/medethics-2012-100523.


Gal, A; Beck, M; Winchester, B; (2012) Clinical utility gene card for: Fabry disease. EUROPEAN JOURNAL OF HUMAN GENETICS , 20 (2) 10.1038/ejhg.2011.178.

Galizia, EC; Srikantha, M; Palmer, R; Waters, JJ; Lench, N; Ogilvie, CM; ... Sisodiya, SM; + view all (2012) Array comparative genomic hybridization: results from an adult population with drug-resistant epilepsy and co-morbidities. European Journal of Medical Genetics , 55 (5) 342 - 348. 10.1016/j.ejmg.2011.12.011. Green open access

Gibson, V; Plowright, C; Collins, T; Dawson, D; Evans, S; Gibb, P; ... Sturmey, G; + view all (2012) Position statement on visiting in adult critical care units in the UK. Nurs Crit Care , 17 (4) 213 - 218. 10.1111/j.1478-5153.2012.00513.x.

Gillham, JE; Reivich, KJ; Brunwasser, SM; Freres, DR; Chajon, ND; Kash-MacDonald, VM; ... Seligman, MEP; + view all (2012) Evaluation of a Group Cognitive-Behavioral Depression Prevention Program for Young Adolescents: A Randomized Effectiveness Trial. Journal of Clinical Child & Adolescent Psychology 1 - 19. 10.1080/15374416.2012.706517.


Hall, GL; Thompson, BR; Stanojevic, S; Abramson, MJ; Beasley, R; Coates, A; ... Swanney, MP; + view all (2012) The Global Lung Initiative 2012 reference values reflect contemporary Australasian spirometry. Respirology , 17 (7) 1150 - 1151. 10.1111/j.1440-1843.2012.02232.x.

Harden, PN; Walsh, G; Bandler, N; Bradley, S; Lonsdale, D; Taylor, J; Marks, SD; (2012) Bridging the gap: an integrated paediatric to adult clinical service for young adults with kidney failure. BMJ , 344 e3718 - ?.

Harris, KA; Kenna, DT; Blauwendraat, C; Hartley, JC; Turton, JF; Aurora, P; Dixon, GL; (2012) Molecular fingerprinting of Mycobacterium abscessus strains in a cohort of pediatric cystic fibrosis patients. J Clin Microbiol , 50 (5) 1758 - 1761. 10.1128/JCM.00155-12.

Harron, KL; McKinney, PA; Feltbower, RG; Holland, P; Campbell, FM; Parslow, RC; (2012) Resource and outcome in paediatric diabetes services. Arch Dis Child , 97 (6) 526 - 528. 10.1136/adc.2010.198275.

Hartley, C; Berthouze, L; Mathieson, SR; Boylan, GB; Rennie, JM; Marlow, N; Farmer, SF; (2012) Long-range temporal correlations in the EEG bursts of human preterm babies. PLoS One , 7 (2) , Article e31543 . 10.1371/journal.pone.0031543. Green open access

Haynes, L; Hann, G; Daniels, J; Fertleman, C; (2012) Child protection in Haringey: a prospective observational study and audit of child protection procedures in two London hospitals. Archives of Disease in Childhood , 97 (Suppl 1) A96 - A96. 10.1136/archdischild-2012-301885.228.

Hill, M; Barrett, AN; Chitty, LS; White, H; (2012) Uses of cell free fetal DNA in maternal circulation. Best Practice and Research: Clinical Obstetrics and Gynaecology , 26 (5) 639 - 654. 10.1016/j.bpobgyn.2012.03.004.

Hill, M; Barrett, AN; White, H; Chitty, LS; (2012) Uses of cell free fetal DNA in maternal circulation. Best Pract Res Clin Obstet Gynaecol , 26 (5) 639 - 654. 10.1016/j.bpobgyn.2012.03.004.

Hill, M; Compton, C; Lewis, C; Skirton, H; Chitty, LS; (2012) Determination of foetal sex in pregnancies at risk of haemophilia: a qualitative study exploring the clinical practices and attitudes of health professionals in the United Kingdom. Haemophilia , 18 (4) 575 - 583. 10.1111/j.1365-2516.2011.02653.x.

Hill, M; Fisher, J; Chitty, LS; Morris, S; (2012) Women's and health professionals' preferences for prenatal tests for Down syndrome: a discrete choice experiment to contrast noninvasive prenatal diagnosis with current invasive tests. Genet Med , 14 (11) 905 - 913. 10.1038/gim.2012.68.

Hill, M; Lewis, C; Jenkins, L; Allen, S; Elles, RG; Chitty, LS; (2012) Implementing noninvasive prenatal fetal sex determination using cell-free fetal DNA in the United Kingdom. Expert Opin Biol Ther , 12 Suppl 1 S119 - S126. 10.1517/14712598.2012.666522.

Hughes, CR; Guasti, L; Meimaridou, E; Chuang, CH; Schimenti, JC; King, PJ; ... Metherell, LA; + view all (2012) MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans. J Clin Invest , 122 (3) 814 - 820. 10.1172/JCI60224.

Hussain, T; Burch, M; Greil, GF; Cecelja, M; Fenton, M; (2012) Central aortic stiffness, hypertension, and coronary allograft vasculopathy in children. The Journal of Heart and Lung Transplantation , 31 (12) 1318 - 1320. 10.1016/j.healun.2012.09.001.

Hussain, T; Burch, M; Wiethoff, AJ; Peel, SA; Cecelja, M; Greil, GF; ... Fenton, M; + view all (2012) 136 Central Aortic Stiffness, Hypertension and Coronary Allograft Vasculopathy in Children. The Journal of Heart and Lung Transplantation , 31 (4) , Article S. 10.1016/j.healun.2012.01.140.


Iliffe, S; Gallant, C; Kramer, T; Gledhill, J; Bye, A; Fernandez, V; ... Garralda, ME; + view all (2012) Therapeutic identification of depression in young people: lessons from the introduction of a new technique in general practice. Br J Gen Pract , 62 (596) e174 - e182. 10.3399/bjgp12X630061.

Issitt, RW; Crook, RM; Cross, NT; Shaw, M; Robertson, A; Burch, M; ... Tsang, VT; + view all (2012) Incompatible ABO-plasma exchange and its impact on patient selection in paediatric cardiac transplantation. Perfusion , 27 (6) 480 - 485. 10.1177/0267659112453076.


Jayakody, SA; (2012) Investigating genetic factors underlying hypopituitarism and septo-optic dysplasia in humans. Doctoral thesis, UCL (University College London).

Jonuschies, J; (2012) Characterisation of Lentiviral Transgene Expression in Muscle Precursor Cells: Towards a Potential Therapy for Duchenne Muscular Dystrophy. Doctoral thesis, UCL (University College London). Green open access


Kaliakatsos, M; Mohammed, S; Jacques, T; Pitt, M; Siddiqui, A; Wraige, E; (2012) Post-mortem: a call for revival! Presented at: Annual Meeting of the British Paediatric Neurology Association,, London.

Kanani, M; Hoskote, A; Carter, C; Burch, M; Tsang, V; Kostolny, M; (2012) Increasing donor-recipient weight mismatch in pediatric orthotopic heart transplantation does not adversely affect outcome. Eur J Cardiothorac Surg , 41 (2) 427 - 434. 10.1016/j.ejcts.2011.04.042.

Keir, LS; Marks, SD; Kim, JJ; (2012) Shigatoxin-associated hemolytic uremic syndrome: current molecular mechanisms and future therapies. Drug Des Devel Ther , 6 195 - 208. 10.2147/DDDT.S25757.

Kenny, D; Burch, M; (2012) Sirolimus - Moving toward the mainstream in pediatric heart transplantation? Pediatric Transplantation , 16 (6) 537 - 538. 10.1111/j.1399-3046.2011.01632.x.

Kiani-Alikhan, S; Yong, PF; Gilmour, KC; Grosse-Kreul, D; Davies, EG; Ibrahim, MA; (2012) Phenotypic heterogeneity in a family with a CD40 ligand intracellular domain mutation. J.Clin.Immunol. , 32 (1) 70 - 77. 10.1007/s10875-011-9607-6.

Kirkby, J; Aurora, P; Spencer, H; Rees, S; Sonnappa, S; Stocks, J; (2012) Stitching and switching: the impact of discontinuous lung function reference equations. Eur Respir J , 39 (5) 1256 - 1257. 10.1183/09031936.00173011.

Kiss, IZ; Timothy, JT; Berthouze, L; Simon, PL; (2012) Modelling approaches for simple dynamic networks and applications to disease transmission models. Proceedings of the Royal Society A: Mathematical, Physical and Engineering Sciences , 468 (2141) 1332 - 1355. 10.1098/rspa.2011.0349.

Koelsch, S; Enge, J; Jentschke, S; (2012) Cardiac signatures of personality. PLoS One , 7 (2) , Article e31441 . 10.1371/journal.pone.0031441. Green open access



Lewis, C; Hill, M; Skirton, H; Chitty, LS; (2012) Fetal sex determination using cell-free fetal DNA: service users' experiences of and preferences for service delivery. Prenat Diagn , 32 (8) 735 - 741. 10.1002/pd.3893.

Lewis, C; Hill, M; Skirton, H; Chitty, LS; (2012) Non-invasive prenatal diagnosis for fetal sex determination: benefits and disadvantages from the service users' perspective. Eur J Hum Genet , 20 (11) 1127 - 1133. 10.1038/ejhg.2012.50.

Liossi, C; Noble, G; Franck, LS; (2012) How parents make sense of their young children's expressions of everyday pain: A qualitative analysis. Eur J Pain 10.1002/j.1532-2149.2012.00111.x.

Lozano, R; Naghavi, M; Foreman, K; Lim, S; Shibuya, K; Aboyans, V; ... Murray, CJL; + view all (2012) Global and regional mortality from 235 causes of death for 20 age groups in 1990 and 2010: a systematic analysis for the Global Burden of Disease Study 2010. The Lancet , 380 (9859) 2095 - 2128. 10.1016/S0140-6736(12)61728-0.


Macaulay, C; Fertleman, C; (2012) "What does it mean for our family?": learning from paediatric patient journeys. Archives of Disease in Childhood , 97 (Suppl 1) A180 - A180. 10.1136/archdischild-2012-301885.422.

Macharia, EW; (2012) Comparison of upper gastrointestinal contrast studies and pH/impedance tests for the diagnosis of childhood gastro-oesophageal reflux. Pediatr Radiol , 42 (8) 946 - 951. 10.1007/s00247-012-2405-3.

Marchegiani, F; Spazzafumo, L; Cardelli, M; Provinciali, M; Lescai, F; Franceschi, C; Antonicelli, R; (2012) Paraoxonase-1 55 LL Genotype Is Associated with No ST-Elevation Myocardial Infarction and with High Levels of Myoglobin. J Lipids , 2012 601796 - ?. 10.1155/2012/601796.

Marks, SD; (2012) New immunosuppressants in pediatric solid organ transplantation. Curr Opin Organ Transplant , 17 (5) 503 - 508. 10.1097/MOT.0b013e32835741cd.

Marks, SD; Tullus, K; (2012) Autoantibodies in systemic lupus erythematosus. Pediatr Nephrol , 27 (10) 1855 - 1868. 10.1007/s00467-011-2078-4.

Marks, SD; Tullus, K; (2012) Update on imaging for suspected renovascular hypertension in children and adolescents. Curr Hypertens Rep , 14 (6) 591 - 595. 10.1007/s11906-012-0308-1.

McCabe, MJ; Allan, CM; Foo, CFH; Nicholls, PK; McTavish, KJ; Stanton, PG; (2012) Androgen Initiates Sertoli Cell Tight Junction Formation in the Hypogonadal (hpg) Mouse. Biology of Reproduction , 87 (2) 38 - 38. 10.1095/biolreprod.111.094318.

McElduff, F.C.; (2012) Models for discrete epidemiological and clinical data. Doctoral thesis, UCL (University College London). Green open access

Mencarelli, F; Marks, SD; (2012) Non-viral infections in children after renal transplantation. Pediatr Nephrol , 27 (9) 1465 - 1476. 10.1007/s00467-011-2099-z.

Miller, S; Liao, L-M; Warner, D; Chitty, LS; (2012) Service users and care providers' experiences of tertiary combined fetal medicine clinics. Prenatal Diagnosis , 32 (9) 864 - 868. 10.1002/pd.3922.

Mok, Q; (2012) Tracheostomies in paediatric intensive care: evolving indications and changing expectations. Arch Dis Child , 97 (10) 858 - 859. 10.1136/archdischild-2012-302454.

Moorthy, LN; Weiss, E; Peterson, MG; Hassett, AL; Lehman, TJ; International SMILEY Collaborative Group,; (2012) An update on cross-cultural adaptation of US English SMILEY. Lupus , 21 (13) 1450 - 1454. 10.1177/0961203312461965.

Murray, CJL; Vos, T; Lozano, R; Naghavi, M; Flaxman, AD; Michaud, C; ... Lopez, AD; + view all (2012) Disability-adjusted life years (DALYs) for 291 diseases and injuries in 21 regions, 1990–2010: a systematic analysis for the Global Burden of Disease Study 2010. The Lancet , 380 (9859) 2197 - 2223. 10.1016/S0140-6736(12)61689-4.


Narwani, VN; Tidswell, T; Pitt, MC; (2012) A novel analytical method for the diagnosis of paediatric myasthenia using stimulated single fibre electromyography. Presented at: Annual meeting of the British paediatric neurological Association 2012, London United Kingdom.


Oddo, VM; Rah, JH; Semba, RD; Sun, K; Akhter, N; Sari, M; ... Kraemer, K; + view all (2012) Predictors of maternal and child double burden of malnutrition in rural Indonesia and Bangladesh. Am J Clin Nutr , 95 (4) 951 - 958. 10.3945/ajcn.111.026070.

Onoufriadis, A; Simpson, MA; Barker, JN; Trembath, RC; Capon, F; Burden, AD; (2012) Identification of rare, disease-associated variants in the promoter region of the RNF114 psoriasis susceptibility gene. Journal of Investigative Dermatology , 132 (4) 1297 - 1299. 10.1038/jid.2011.431.

Onoufriadis, A; Simpson, MA; Burden, AD; Barker, JN; Trembath, RC; Capon, F; (2012) Identification of rare, disease-associated variants in the promoter region of the RNF114 psoriasis susceptibility gene. J Invest Dermatol , 132 (4) 1297 - 1299. 10.1038/jid.2011.431.

Ostergaard, P; Jeffery, S; Simpson, MA; Onoufriadis, A; Trembath, RC; Mendola, A; ... Mortimer, PS; + view all (2012) Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy. American Journal of Human Genetics , 90 (2) 356 - 362. 10.1016/j.ajhg.2011.12.018.

Ostergaard, P; Simpson, MA; Mendola, A; Vasudevan, P; Connell, FC; van Impel, A; ... Jeffery, S; + view all (2012) Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy. Am J Hum Genet , 90 (2) 356 - 362. 10.1016/j.ajhg.2011.12.018.

Oxenford, K; Hill, M; Chitty, L; (2012) Cell-free fetal DNA: Emerging applications and future obstacles. Expert Review of Obstetrics and Gynecology , 7 (6) 513 - 515. 10.1586/eog.12.66.


Pajkrt, E; van Maarle, MC; Cicero, S; Chitty, LS; Griffin, DR; (2012) Fetal forearm anomalies: Prenatal diagnosis, associations and management strategy. Prenatal Diagnosis , 32 (11) 1084 - 1093. 10.1002/pd.3962.

Pangrazio, A; Cassani, B; Guerrini, MM; Crockett, JC; Marrella, V; Zammataro, L; ... Sobacchi, C; + view all (2012) RANK-dependent autosomal recessive osteopetrosis: characterization of five new cases with novel mutations. J Bone Miner Res , 27 (2) 342 - 351. 10.1002/jbmr.559.

Pankhurst, LJ; Taylor, J; Cloutman-Green, EA; Hartley, JC; Lai, KM; (2012) Can Clean-Room Particle Counters be Used as an Infection Control Tool in Hospital Operating Theatres? INDOOR AND BUILT ENVIRONMENT , 21 (3) 381 - 391. 10.1177/1420326X11409467.

Papademetriou, MD; Tachtsidis, I; Banaji, M; Elliott, MJ; Hoskote, A; Elwell, CE; (2012) Optical topography to measure variations in regional cerebral oxygenation in an infant supported on veno-arterial extra-corporeal membrane oxygenation. In: Wolf, M and Bucher, HU and Rudin, M and Van Huffel, S and Wolf, U and Bruley, DF and Harrison, DK, (eds.) Oxygen Transport to Tissue XXXIII. (pp. 71 - 76). Springer Verlag: Berlin/ Heidelberg, Germany. Green open access

Papademetriou, MD; Tachtsidis, I; Elliot, MJ; Hoskote, A; Elwell, CE; (2012) Multichannel near infrared spectroscopy indicates regional variations in cerebral autoregulation in infants supported on extracorporeal membrane oxygenation. J Biomed Opt , 17 (6) , Article 067008. 10.1117/1.JBO.17.6.067008. Green open access

Papadopoulou-Alataki, E; Hassan, A; Graham Davies, E; (2012) Prevention of infection in children and adolescents with primary immunodeficiency disorders. Asian Pacific Journal of Allergy and Immunology , 30 (4) 249 - 258.

Paternoster, L; Standl, M; Chen, CM; Ramasamy, A; Bønnelykke, K; Duijts, L; ... EArly Genetics & Lifecourse Epidemiology (EAGLE) Consortium,; + view all (2012) Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis. Nat Genet , 44 (2) 187 - 192. 10.1038/ng.1017.

Paton, J; Beardsmore, C; Laverty, A; King, C; Oliver, C; Young, D; Stocks, J; (2012) Discrepancies between pediatric laboratories in pulmonary function results from healthy children. Pediatr Pulmonol , 47 (6) 588 - 596. 10.1002/ppul.21592.

Peer Mohamed, B; Goadsby, PJ; Prabhakar, P; (2012) Safety and efficacy of flunarizine in childhood migraine: 11 years' experience, with emphasis on its effect in hemiplegic migraine. Dev Med Child Neurol , 54 (3) 274 - 277. 10.1111/j.1469-8749.2011.04154.x.

Pereira, VJ; (2012) The effect of maxillary advancement on speech, nasality and velopharyngeal function in Cleft Lip and Palate. Doctoral thesis, UCL (University COllege London).

Pincott, ES; Burch, M; (2012) Mechanical bridging to orthotopic heart transplantation in children. Future Cardiology , 8 (5) 753 - 763. 10.2217/fca.12.56.

Pincott, ES; Burch, M; (2012) Potential for stem cell use in congenital heart disease. Future Cardiology , 8 (2) 161 - 169. 10.2217/fca.12.13.

Pitt, M; (2012) Support your local paediatric neurophysiologist. Developmental Medicine and Child Neurology , 54 (12) 1164 - 1164. 10.1111/dmcn.12004.

Pitt, M; (2012) Why wait 3 months before doing electromyography in obstetric brachial plexus lesions? Challenging the norm. Dev Med Child Neurol , 54 (8) 682 - ?. 10.1111/j.1469-8749.2012.04326.x.

Pitt, MC; (2012) EMG of congenital myasthenia in young children (EMG des myasthenies congenitales chez les jeunes enfants). [Lecture]. Presented at: Societe Neurophysiologie clinique de langue Francaise, Amiens.

Pitt, MC; (2012) EMG of congenital myasthenia in young: techniques and traps (EMG des myasthenies congenitales chez les jeunes enfants: techniques et pieges). [Lecture]. Presented at: 18iemes Journees Francophones d'electromyographie, Marseille.

Pitt, MC; (2012) Nerve conduction studies and needle EMG in very small children. Eur J Paediatr Neurol , 16 (3) 285 - 291. 10.1016/j.ejpn.2011.07.014.

Pitt, MC; (2012) Paediatric electroencephalogaphy. [Lecture]. Presented at: The fourth international Congress of the Sudanese society of neurological sciences, Khartoum, Sudan.

Pitt, MC; (2012) Paediatric EMG. [Lecture]. Presented at: 4th international Congress of the Sudanese society of neurological sciences, Khartoum, Sudan.

Pitt, MC; (2012) EMG des myasthénies congénitales chez les jeunes enfants: techniques et pièges. In: Pouget, J and Attarian., S, (eds.) ENMG 2012 18èmes Journées Francophones d'Electroneuromyographie. Solal: Marseille.


Quail, MA; Frigiola, A; Giardini, A; Muthurangu, V; Hughes, M; Lurz, P; ... Taylor, AM; + view all (2012) Impact of pulmonary valve replacement in tetralogy of Fallot with pulmonary regurgitation: a comparison of intervention and nonintervention. Ann Thorac Surg , 94 (5) 1619 - 1626. 10.1016/j.athoracsur.2012.06.062.

Quail, MA; Muthurangu, V; Taylor, AM; (2012) Tetralogy of Fallot. In: Syed, MA and Mohiaddin, RH, (eds.) Magnetic Resonance Imaging of Congenital Heart Disease. (? - ?). Springer

Quail, MA; Nordmeyer, J; Schievano, S; Reinthaler, M; Mullen, MJ; Taylor, AM; (2012) Use of cardiovascular magnetic resonance imaging for TAVR assessment in patients with bioprosthetic aortic valves: comparison with computed tomography. Eur J Radiol , 81 (12) 3912 - 3917. 10.1016/j.ejrad.2012.07.014.

Quail, MA; Odenwald, T; Giardini, A; Khambadkone, S; Hughes, M; Tann, O; ... Taylor, AM; + view all (2012) Systemic to pulmonary collateral blood flow influences early outcomes following the total cavopulmonary connection. Heart , 98 , Article 12. 10.1136/heartjnl-2011-301599.

Quail, MA; Schievano, S; Taylor, AM; Nordmeyer, J; Reinthaler, M; Mullen, MJ; (2012) Use of cardiovascular magnetic resonance imaging for TAVR assessment in patients with bioprosthetic aortic valves: Comparison with computed tomography. European Journal of Radiology , 81 (12) 3912 - 3917. 10.1016/j.ejrad.2012.07.014.

Quail, MA; Taylor, AM; (2012) Valvular disease. Super size me? Annular size and paravalvular leak after TAVR. Nat Rev Cardiol , 9 (5) 265 - 266. 10.1038/nrcardio.2012.38.

Quail, MA; Till, J; (2012) Question 3 Does a higher initial dose of adenosine improve cardioversion rates in supraventricular tachycardia? Arch Dis Child , 97 (2) 177 - 179. 10.1136/archdischild-2011-301079.


Rajendran, B; Young, H; Tidswell, T; MANZUR, A; Robb, S; Pitt, MC; (2012) Abnormal neuromuscular transmission in infants with Prader Willi syndrome. Presented at: World muscle society, Perth Australia.

Ramnarayan, P; Polke, E; (2012) The state of paediatric intensive care retrieval in Britain. Arch Dis Child , 97 (2) 145 - 149. 10.1136/adc.2010.204503.

Ranganathan, S; Rosenfel, M; Stocks, J; (2012) Optimal Lung Function Tests for Monitoring Cystic Fibrosis, Bronchopulmonary Dysplasia and Recurrent Wheezing in Children <6 Years of Age (IN PRESS). Am J Respir Crit Care Med

Raza-Knight, S.R.; (2012) The role of Zic2 in spinal neural tube morphogenesis. Doctoral thesis, UCL (University College London).

Rosato, M; (2012) How does community mobilisation through MaiMwana women's groups work?: Addressing the social determinants of mother and child health in rural Malawi. Doctoral thesis, UCL (University College London). Green open access

Rossdeutsch, A; Smart, N; Dubé, KN; Turner, M; Riley, PR; (2012) Essential role for thymosin β4 in regulating vascular smooth muscle cell development and vessel wall stability. Circ Res , 111 (4) e89 - 102. 10.1161/CIRCRESAHA.111.259846.


Shah, N; Laidlaw, DA; Rashid, S; Hysi, P; (2012) Validation of printed and computerised crowded Kay picture logMAR tests against gold standard ETDRS acuity test chart measurements in adult and amblyopic paediatric subjects. Eye (Lond) , 26 (4) 593 - 600. 10.1038/eye.2011.333.

Silcock, C; Chitty, LS; Liao, LM; (2012) Will the introduction of non-invasive prenatal diagnosis for Down's syndrome influence informed choice? In: JOURNAL OF MEDICAL GENETICS. (pp. S73 - S73).

Smart, N; (2012) Reawakening progenitor cells to repair the adult heart. In: HUMAN GENE THERAPY. (pp. A2 - A2).

Smart, N; Bollini, S; Dubé, KN; Vieira, JM; Zhou, B; Riegler, J; ... Riley, PR; + view all (2012) Myocardial regeneration: expanding the repertoire of thymosin β4 in the ischemic heart. Ann N Y Acad Sci , 1269 92 - 101. 10.1111/j.1749-6632.2012.06708.x.

Smart, N; Riley, PR; (2012) The epicardium as a candidate for heart regeneration. Future Cardiol , 8 (1) 53 - 69. 10.2217/fca.11.87.

Smart, N; Rossdeutsch, A; Dube, KN; Riegler, J; Price, AN; Taylor, A; ... Riley, PR; + view all (2012) An essential role for thymosin beta 4 in regulating vascular smooth muscle cell development and adult vessel stability. CARDIOVASCULAR RESEARCH , 93 S92 - S92. 10.1093/cvr/cvr336.

Smyth, RL; (2012) A risk adapted approach to the governance of clinical trials. BMJ (Online) , 344 (7844) 10 - 10. 10.1136/bmj.d6756.

Smyth, RL; Walters, S; (2012) Oral calorie supplements for cystic fibrosis. Cochrane Database Syst Rev , 10 CD000406 - ?. 10.1002/14651858.CD000406.pub3.

Smyth, RL; Walters, S; (2012) Oral calorie supplements for cystic fibrosis. Cochrane database of systematic reviews (Online) , 10

Snowden, JA; Pearce, RM; Lee, J; Kirkland, K; Gilleece, M; Veys, P; ... BSBMT Clinical Trials Committee,; + view all (2012) Haematopoietic stem cell transplantation (HSCT) in severe autoimmune diseases: analysis of UK outcomes from the British Society of Blood and Marrow Transplantation (BSBMT) data registry 1997-2009. Br J Haematol , 157 (6) 742 - 746. 10.1111/j.1365-2141.2012.09122.x.

Sonnappa, S; Wallis, C; (2012) Respiratory Medicine. In: Strobel, S and Marks, S and Smith, P and Spitz, L, (eds.) The Great Ormond Street Colour Handbook of Paediatrics and Child Health. (? - ?). Manson Pub Lt

Spagnoli, C; Pitt, MC; Josifova, D; DeSousa, C; (2012) Successful treatment of Fazio Londe disease/Brown Vialetto van Laere with riboflavin. Presented at: Annual Meeting of the British Paediatric Neurology Association,, London.

Speggiorin, S; Gilbert, TW; Broadhead, M; Roebuck, DJ; McLaren, CA; Elliott, MJ; (2012) Do tracheas grow after slide tracheoplasty? Ann Thorac Surg , 93 (4) 1083 - 1086. 10.1016/j.athoracsur.2011.12.075.

Speggiorin, S; Torre, M; Roebuck, DJ; McLaren, CA; Elliott, MJ; (2012) A new morphologic classification of congenital tracheobronchial stenosis. Ann Thorac Surg , 93 (3) 958 - 961. 10.1016/j.athoracsur.2011.12.019.

Steenweg, ME; Vanderver, A; Ceulemans, B; Prabhakar, P; Régal, L; Fattal-Valevski, A; ... van der Knaap, MS; + view all (2012) Novel infantile-onset leukoencephalopathy with high lactate level and slow improvement. Arch Neurol , 69 (6) 718 - 722. 10.1001/archneurol.2011.1048.


Su, Z; Gay, LJ; Strange, A; Palles, C; Band, G; Whiteman, DC; ... Wellcome Trust Case Control Consortium 2,; + view all (2012) Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus. Nat Genet , 44 (10) 1131 - 1136. 10.1038/ng.2408.


Tan, MH; Mackay, DS; Cowing, J; Tran, HV; Smith, AJ; Wright, GA; ... Moore, AT; + view all (2012) Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy. PLoS One , 7 (3) , Article e32330 . 10.1371/journal.pone.0032330. Green open access

Torre, M; Carlucci, M; Speggiorin, S; Elliott, MJ; (2012) Aortopexy for the treatment of tracheomalacia in children: review of the literature. Ital J Pediatr , 38 62 - ?. 10.1186/1824-7288-38-62. Gold open access

Torre, M; Speggiorin, S; Roebuck, DJ; McLaren, CA; Elliott, MJ; (2012) Congenital absence of cartilaginous tracheal rings associated with esophageal atresia and trifurcated carina: a novel anomaly? J Pediatr Surg , 47 1008 - 1011. 10.1016/j.jpedsurg.2012.01.077.

Tse, Y; Marks, SD; Brennan, E; Hamilton, G; McLaren, CA; Roebuck, DJ; Tullus, K; (2012) Renal artery revascularisation can restore kidney function with absent radiotracer uptake. Pediatr Nephrol , 27 (11) 2153 - 2157. 10.1007/s00467-012-2235-4.

Tsoi, LC; Spain, SL; Knight, J; Ellinghaus, E; Stuart, PE; Capon, F; ... Trembath, RC; + view all (2012) Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. Nat Genet , 44 (12) 1341 - 1348. 10.1038/ng.2467.

Tsoi, LC; Spain, SL; Knight, J; Ellinghaus, E; Stuart, PE; Capon, F; ... Trembath, RC; + view all (2012) Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. Nat Genet , 44 (12) 1341 - 1348. 10.1038/ng.2467.

Turcu, S; Sonnappa, S; (2012) A teenager with a cough, fever, and poor appetite. BMJ , 344 e2821 - ?.


Usifo, E; Leigh, SE; Whittall, RA; Lench, N; Taylor, A; Yeats, C; ... Humphries, SE; + view all (2012) Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment. Ann Hum Genet , 76 (5) 387 - 401. 10.1111/j.1469-1809.2012.00724.x.


Vajhi Jafari, N; (2012) Defining innate immunity to Clostridium difficile. Doctoral thesis, UCL (University College London). Green open access

van Kaam, AH; De Jaegere, AP; Rimensberger, PC; Debeer, A; Chemin, A; Norbert, K; ... Emeis, M; + view all (2012) Incidence of hypo- and hyper-capnia in a cross-sectional European cohort of ventilated newborn infants. Archives of Disease in Childhood: Fetal and Neonatal Edition

Vanhaecht, K; Ovretveit, J; Elliott, MJ; Sermeus, W; Ellershaw, J; Panella, M; (2012) Have we drawn the wrong conclusions about the value of care pathways? Is a Cochrane review appropriate? Eval Health Prof , 35 28 - 42. 10.1177/0163278711408293.

Vergnano, S; (2012) Verbal autopsy for stillbirth and neonatal deaths – comparing population cause specific mortality fraction using two methods. Doctoral thesis, UCL (University College London).

Veys, P; Wynn, RF; Ahn, KW; Samarasinghe, S; He, W; Bonney, D; ... Eapen, M; + view all (2012) Impact of immune modulation with in vivo T-cell depletion and myleoablative total body irradiation conditioning on outcomes after unrelated donor transplantation for childhood acute lymphoblastic leukemia. Blood , 119 (25) 6155 - 6161. 10.1182/blood-2012-01-405795.

Vijayakumar, K; Prabhakar, P; Alderson, L; Barkey, S; Griggs, H-M; Edwards, A; ... Doyle, W; + view all (2012) Medically unexplained neurological symptoms in children and adolescents: A study within WHO's international classification of functioning, disability and health framework. Journal of Pediatric Neurology , 10 (4) 247 - 255. 10.3233/JPN-120583.

Vijayakumar, K; Rockett, J; Ryan, M; Harris, R; Pitt, M; Devile, C; (2012) Experience of using electromyography of the genioglossus in the investigation of paediatric dysphagia. Dev Med Child Neurol , 54 (12) 1127 - 1132. 10.1111/j.1469-8749.2012.04431.x.

Vilela, C; Romero, FJ; Navea, A; González, E; Martin, V; Barber, C; Thompson, D; (2012) The 50th ISCEV international symposium abstract issue. Documenta Ophthalmologica 1 - 2. 10.1007/s10633-012-9331-4.

Vos, T; Flaxman, AD; Naghavi, M; Lozano, R; Michaud, C; Ezzati, M; ... Murray, CJL; + view all (2012) Years lived with disability (YLDs) for 1160 sequelae of 289 diseases and injuries 1990–2010: a systematic analysis for the Global Burden of Disease Study 2010. The Lancet , 380 (9859) 2163 - 2196. 10.1016/S0140-6736(12)61729-2.


Watson, L; Midgley, A; Pilkington, C; Tullus, K; Marks, S; Holt, R; ... Beresford, M; + view all (2012) Urinary monocyte chemoattractant protein 1 and alpha 1 acid glycoprotein as biomarkers of renal disease activity in juvenile-onset systemic lupus erythematosus. Lupus , 21 (5) 496 - 501. 10.1177/0961203311431249.

Watson, L; Tullus, K; Marks, SD; Holt, RC; Pilkington, C; Beresford, MW; (2012) Increased serum concentration of sphingosine-1-phosphate in juvenile-onset systemic lupus erythematosus. J Clin Immunol , 32 (5) 1019 - 1025. 10.1007/s10875-012-9710-3.

White, H; Dent, CL; Barrett, A; Brugger, K; Chitty, LS; (2012) Comparison of multiplexed maternal plasma DNA sequencing and targeted (chromosome selective) next generat on sequencing approaches for the non-invasive prenata detection of trisomy 21. In: JOURNAL OF MEDICAL GENETICS. (pp. S39 - S39).

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

Wood, T; Bodamer, OA; Burin, MG; D'Almeida, V; Fietz, M; Giugliani, R; ... Harmatz, P; + view all (2012) Expert recommendations for the laboratory diagnosis of MPS VI. Mol Genet Metab , 106 (1) 73 - 82. 10.1016/j.ymgme.2012.02.005.


Wray, J; Lunnon-Wood, T; Smith, L; Orrells, C; Iguchi, A; Burch, M; Brown, K; (2012) Perceived quality of life of children after successful bridging to heart transplantation. J Heart Lung Transplant , 31 (4) 381 - 386. 10.1016/j.healun.2011.11.014.


Yoong, M; (2012) Convulsive status epilepticus: prolonged childhood seizures and their consequences. Doctoral thesis, UCL (University College London). Green open access

This list was generated on Sun Jul 5 02:57:24 2015 BST.