- Detailed search
-
- Browse by:
- Department |
Year |
Latest
For everyone
- About UCL Discovery
- Open Access
- Using UCL Discovery:
- Statistics:
- FAQ
For UCL authors
Browse by UCL Departments and Centres
 | Up a level |
Group by: Author | Type
Number of items: 144.
A
| Abu-Amara, M and Yang, S and Seifalian, A and Fuller, B and Davidson, B (2011) Nitric Oxide in Remote Ischemic Preconditioning of the Liver: A Novel Role for an Old Molecule. In: AMERICAN JOURNAL OF GASTROENTEROLOGY. (pp. S105 - S105). |
| Abu-Amara, M and Yang, S and Seifalian, A and Fuller, B and Davidson, B (2011) Remote Ischemic Preconditioning Protects the Liver from Ischemia Reperfusion Injury through the sGC-cGMP Pathway. In: AMERICAN JOURNAL OF GASTROENTEROLOGY. (pp. S106 - S106). |
| Abu-Amara, M and Yang, SY and Quaglia, A and Rowley, P and de Mel, A and Tapuria, N and Seifalian, A and Davidson, B and Fuller, B (2011) Nitric oxide is an essential mediator of the protective effects of remote ischaemic preconditioning in a mouse model of liver ischaemia/reperfusion injury. CLIN SCI , 121 (5-6) 257 - 266. 10.1042/CS20100598. |
| Abu-Amara, M and Yang, SY and Quaglia, A and Rowley, P and Fuller, B and Seifalian, A and Davidson, B (2011) Role of Endothelial Nitric Oxide Synthase in Remote Ischemic Preconditioning of the Mouse Liver. LIVER TRANSPLANT , 17 (5) 610 - 619. 10.1002/lt.22272. |
| Abu-Amara, M and Yang, SY and Quaglia, A and Rowley, P and Tapuria, N and Seifalian, AM and Fuller, BJ and Davidson, BR (2011) Effect of Remote Ischemic Preconditioning on Liver Ischemia/Reperfusion Injury Using a New Mouse Model. LIVER TRANSPLANT , 17 (1) 70 - 82. 10.1002/lt.22204. |
| Abu-Amara, M and Yang, SY and Seifalian, A and Davidson, B and Fuller, B (2011) REMOTE ISCHAEMIC PRECONDITIONING PROTECTS THE HEPATIC MICROCIRCULATION FROM LIVER ISCHAEMIA REPERFUSION INJURY THROUGH THE NITRIC OXIDE/cyclicGMP PATHWAY. TRANSPL INT , 24 7 - 7. |
| Abu-Amara, M and Yang, SY and Seifalian, AM and Fuller, B and Davidson, BR (2011) Remote Ischemic Preconditioning by Hindlimb Occlusion Prevents Liver Ischemic/Reperfusion Injury. ANN SURG , 254 (1) 178 - 180. 10.1097/SLA.0b013e318221ff34. |
| Abu-Amara, M and Yang, SY and Tapuria, N and Fuller, BJ and Davidson, BR and Seifalian, AM (2011) Hepatic Liver Ischemia/Reperfusion Injury: Processes in Inflammatory Networks - A Review Reply. LIVER TRANSPLANT , 17 (1) 96 - 96. 10.1002/lt.22215. |
| Achermann, JC (2011) SF-1 and DAX-1 in human disease. Doctoral thesis, University of Cambridge (Special Regulations). |
| Achermann, JC and Eugster, EA and Shulman, DI (2011) Ambiguous genitalia. J Clin Endocrinol Metab , 96 (3) 33A - 34A. |
| Achermann, JC and Hughes, IA (2011) Disorders of sex development. In: Melmed, S and Polonsky, KS and Larsen, PR and Kronenberg, HM, (eds.) William's textbook of endocrinology. (868 - 934). W B Saunders Co |
| Achermann, JC and Jameson, JL (2011) Disorders of sex development. In: Longo, DL and Fauci, AS and Kasper, DL and Hauser, SL and Jameson, JL and Loscalzo, J, (eds.) Harrison's principles of internal medicine. (3046 - 3055). McGraw-Hill: New York. |
| Ahmed, SF and Achermann, JC and Arl, W and Balen, AH and Conway, G and Edwards, ZL and Elford, S and Hughes, IA and Izatt, L and Krone, N and Miles, HL and O'Toole, S and Perry, L and Sanders, C and Simmonds, M and Wallace, AM and Watt, A and Willis, D (2011) UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development. CLIN ENDOCRINOL , 75 (1) 12 - 26. 10.1111/j.1365-2265.2011.04076.x. |
| Alatzoglou, KS and Andoniadou, CL and Kelberman, D and Buchanan, CR and Crolla, J and Arriazu, MC and Roubicek, M and Moncet, D and Martinez-Barbera, JP and Dattani, MT (2011) SOX2 haploinsufficiency is associated with slow progressing hypothalamo-pituitary tumours. Hum Mutat , 32 (12) 1376 - 1380. 10.1002/humu.21606. |
| Alatzoglou, KS and Kelberman, D and Cowell, CT and Palmer, R and Arnhold, IJP and Melo, ME and Schnabel, D and Grueters, A and Dattani, MT (2011) Increased Transactivation Associated with SOX3 Polyalanine Tract Deletion in a Patient with Hypopituitarism. J CLIN ENDOCR METAB , 96 (4) E685 - E690. 10.1210/jc.2010-1239. |
| Aligianis, I and Handley, M and Carpanini, S and Bern, D and Yoshimura, S and Nunes-Bastos, R and Bond, F and Kurian, M and Rahman, F and Hadzhiev, Y and Pasha, S and Kirby, G and Straatman-Iwanowska, A and Cullinane, A and McNeill, A and Gissen, P and Muller, F and Maher, E and Barr, F (2011) Micro and Martsolf Syndromes. In: JOURNAL OF MEDICAL GENETICS. (pp. S36 - S36). B M J PUBLISHING GROUP |
B
| Balasubramaniam, S and Kapoor, R and Yeow, JHH and Lim, PG and Flanagan, S and Ellard, S and Hussain, K (2011) Biochemical evaluation of an infant with hypoglycemia resulting from a novel de novo mutation of the GLUD1 gene and hyperinsulinism-hyperammonemia syndrome. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , 24 (7-8) 573 - 577. 10.1515/JPEM.2011.057. |
| Banka, S and Blom, H and Walter, J and Aziz, M and Urquhart, J and Clouthier, C and Rice, G and de Brouwer, A and Hilton, E and Vassallo, G and Will, A and Smith, D and Smulders, Y and Wevers, R and Steinfield R, and Heales, S and Crow, Y and Pelletier, J and Jones, S and Newman, W (2011) Identification and characterisation of an inborn error of metabolism caused by dihydrofolate reductase deficiency. American Journal of Human Genetics , 88 216 - 225. |
| Barenco, M, and Brewer, D, and Callard, R, and Hubank, M, (2011) Handbook of Statistical Systems Biology. In: Stumpf, M and Balding, DJ and Girolami, M, (eds.) Handbook of Statistical Systems Biology. (? - ?). Wiley |
| Barnicoat, A and Shaw, A and Palmer, R and Bitner-Glindzicz, M and Lees, M and Chitty, L (2011) Array CGH in patients with cleft lip and/or palate and external ear malformations. In: JOURNAL OF MEDICAL GENETICS. (pp. S53 - S53). B M J PUBLISHING GROUP |
| Bartnik, A and Loizidou, M and Winslet, MC and Yang, SY (2011) Autophagy and Colorectal Cancer Therapy. Oncology News , 5 (6) 188 - 189. |
| Bartnik, A and Yang, SY and Miah, A and Chen, YW and Winslet, M (2011) Autophagy protects colon cancer cells against stress-induced death. In: BRITISH JOURNAL OF SURGERY. (pp. 12 - 12). WILEY-BLACKWELL |
| Bem, D and Yoshimura, SI and Nunes-Bastos, R and Bond, FF and Kurian, MA and Rahman, F and Handley, MTW and Hadzhiev, Y and Masood, I and Straatman-Iwanowska, AA and Cullinane, AR and McNeill, A and Pasha, SS and Kirby, GA and Foster, K and Ahmed, Z and Morton, JE and Williams, D and Graham, JM and Dobyns, WB and Burglen, L and Ainsworth, JR and Gissen, P and Muller, F and Maher, ER and Barr, FA and Aligianis, IA (2011) Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome. AM J HUM GENET , 88 (4) 499 - 507. 10.1016/j.ajhg.2011.03.012. |
| Bennett, K and James, C and Mutair, A and Al-Shaikh, H and Sinani, A and Hussain, K (2011) Four novel cases of permanent neonatal diabetes mellitus caused by homozygous mutations in the glucokinase gene. PEDIATR DIABETES , 12 (3) 192 - 196. 10.1111/j.1399-5448.2010.00683.x. |
| Bennett, K and James, C and Mutair, A and Al-Shaikh, H and Sinani, A and Hussain, K (2011) Four novel cases of permanent neonatal diabetes mellitus caused by homozygous mutations in the glucokinase gene. Pediatric Diabetes , 12 (3 PART 1) 192 - 196. |
C
| Cardoso, S and Alfonso-Sanchez, MA and Valverde, L and Odriozola, A and Perez-Miranda, AM and Pena, JA and de Pancorbo, MM (2011) The Maternal Legacy of Basques in Northern Navarre: New Insights Into the Mitochondrial DNA Diversity of the Franco-Cantabrian Area. AM J PHYS ANTHROPOL , 145 (3) 480 - 488. 10.1002/ajpa.21532. |
| Cardoso, S and Alfonso-Sánchez, MA and Valverde, L and Odriozola, A and Pérez-Miranda, AM and Peña, JA and De Pancorbo, MM (2011) The maternal legacy of Basques in northern navarre: New insights into the mitochondrial DNA diversity of the Franco-Cantabrian area. American Journal of Physical Anthropology , 145 (3) 480 - 488. |
| Chan, LF and Vaidya, M and Westphal, B and Allgrove, J and Martin, L and Afshar, F and Hindmarsh, PC and Savage, MO and Grossman, AB and Storr, HL (2011) Use of Intravenous Etomidate to Control Acute Psychosis Induced by the Hypercortisolaemia in Severe Paediatric Cushing's Disease. HORM RES PAEDIAT , 75 (6) 441 - 446. 10.1159/000324419. |
| Chan, YW and Miah, A and Bartnik, A and Fuller, B and Winslet, M and Yang, SY (2011) The role of P38 MAPK pathway in human colon cancer cell resistance to 5-Fluorouracil. In: British Journal of Surgery. (pp. 12 - 12). John Wiley Ltd: UK. |
| Chotai, AA and Wakeling, EL and Dattani, MT and Bloch-Zupan, A and Winter, RM and Holder, SE (2011) A unique form of Septo-Optic Dysplasia and its rehabilitative management: a case report. In: JOURNAL OF MEDICAL GENETICS. (pp. S64 - S64). |
| Clayton, PT (2011) Disorders of bile acid synthesis. In: UNSPECIFIED (593 - 604). SPRINGER |
| Clubley, C and Mills, K and Mills, P and Rahman, S and Clayton, PT (2011) METHOD FOR THE QUANTIFICATION OF URINARY (S)-2-(CARBOXYPROPYL)-CYSTEAMINE IN PATIENTS WITH 3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY USING LIQUID CHROMATOGRAPHY WITH TANDEM MASS SPECTROMETRY. JOURNAL OF INHERITED METABOLIC DISEASE , 34 S141 - S141. |
| Cooley, SM and Donnelly, JC and Walsh, T and Durnea, U and Collins, C and Rodeck, CH and Hindmarsh, PC and Geary, MP (2011) The relationship between body mass index and mid-arm circumference in a pregnant population. J OBSTET GYNAECOL , 31 (7) 594 - 596. 10.3109/01443615.2011.597892. |
D
| Dattani, MT and Martinez-Barbera, JP (2011) The future of genomic endocrinology. Front Endocrinol (Lausanne) , 2 11 - ?. 10.3389/fendo.2011.00011. |
| Davies, E.H. (2011) Developing markers of neurological manifestations in Neuronopathic Gaucher Disease. Doctoral thesis, UCL (University College London). |
| Davison, JE and Davies, NP and English, MW and Philip, S and MacPherson, LKR and Gissen, P and Peet, AC (2011) Magnetic Resonance Spectroscopy in the Diagnostic Evaluation of Brainstem Lesions in Alexander Disease. J CHILD NEUROL , 26 (3) 356 - 360. 10.1177/0883073810381279. |
| Davison, JE and Davies, NP and Wilson, M and Sun, Y and Chakrapani, A and McKiernan, PJ and Walter, JH and Gissen, P and Peet, AC (2011) MR spectroscopy-based brain metabolite profiling in propionic acidaemia: metabolic changes in the basal ganglia during acute decompensation and effect of liver transplantation. ORPHANET J RARE DIS , 6 , Article 19. 10.1186/1750-1172-6-19. |
| Duberley, KEC and Abramov, A and Heales, SJR and Rahman, S and Hargreaves, IP (2011) ESTABLISHMENT OF A NEURONAL CELL MODEL OF COENZYME Q10 DEFICIENCY: IMPLICATIONS FOR THE PATHOGENESIS OF DEFECTS IN COENZYME Q10 BIOSYNTHESIS. In: JOURNAL OF INHERITED METABOLIC DISEASE. (pp. S164 - S164). |
E
| El-Khairi, R and Martinez-Aguayo, A and Ferraz-de-Souza, B and Lin, L and Achermann, JC (2011) Role of DAX-1 (NROB1) and Steroidogenic Factor-1 (NR5A1) in Human Adrenal Function. PEDIATRIC ADRENAL DISEASES , 20 38 - 46. |
| Emmanuele, V and Quinzii, CM and Lopez, LC and Rahman, S and Lagier-Tourenne, C and Horvath, R and Naini, AB and DiMauro, S and Hirano, M (2011) Clinical and Genetic Heterogeneity of CoQ(10) Deficiency: A Study of 75 Patients. In: NEUROLOGY. (pp. A364 - A364). |
| Evans, J and Uusimaa, J and Smith, C and Butterworth, A and Craig, K and Ashley, N and Liao, C and Kelly, D and Samyn, M and Rahman, S and Stewart, H and Morris, AMM and Seller, A and Fratter, C and Taylor, RW and Poulton, J (2011) Mitochondrial DNA depletion syndrome due to mutations in the MPV17 gene. In: JOURNAL OF MEDICAL GENETICS. (pp. S70 - S70). |
F
| Fassone, E and Duncan, AJ and Taanman, JW and Pagnamenta, AT and Sadowski, M and Holand, T and Qasim, W and Rutland, P and Calvo, SE and Mootha, VK and Bitner-Glindzicz, M and Rahman, S (2011) Mutations in the novel chaperone FOXRED1 cause mitochondrial complex I deficiency. In: NEUROMUSCULAR DISORDERS. (pp. S19 - S19). PERGAMON-ELSEVIER SCIENCE LTD |
| Fassone, E and Duncan, AJ and Taanman, JW and Pagnamenta, AT and Sadowski, MI and Holand, T and Qasim, W and Rutland, P and Calvo, SE and Mootha, VK and Bitner-Glindzicz, M and Rahman, S (2011) BIOCHEMICAL AND MOLECULAR ANALYSIS IN MITOCHONDRIAL COMPLEX I DEFICIENT CHILDREN. In: JOURNAL OF INHERITED METABOLIC DISEASE. (pp. S162 - S162). |
| Fassone, E and Duncan, AJ and Taanman, JW and Pagnamenta, AT and Sadowski, MI and Holand, T and Qasim, W and Rutland, P and Calvo, SE and Mootha, VK and Bitner-Glindzicz, M and Rahman, S (2011) FOXRED1 mutations are a novel cause of mitochondrial complex I deficiency. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 37 - 37). WILEY-BLACKWELL PUBLISHING, INC |
| Fassone, E and Taanman, JW and Duncan, A and Rahman, S (2011) 14 Mitochondrial cardiomyopathy caused by defective assembly of respiratory chain complex I. In: Heart. (pp. e8 - ?). |
| Fassone, E and Taanman, JW and Hargreaves, IP and Sebire, NJ and Cleary, MA and Burch, M and Rahman, S (2011) Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy. J MED GENET , 48 (10) 691 - 697. 10.1136/jmedgenet-2011-100340. |
| Ferdinandusse, S and Waterham, HR and Abulhoul, L and Wanders, RJA and Clayton, PT and Leonard, JV and Rahman, S (2011) MULTIPLE RESPIRATORY CHAIN DEFECTS CAUSED BY 3-HYDROXY-ISOBUTYRYL COA HYDROLASE DEFICIENCY. JOURNAL OF INHERITED METABOLIC DISEASE , 34 S170 - S170. |
| Ferguson, J and Natkunarajah, J and Jones, W and Saggar, AK and Bitner-Glindzicz, M and Viros, A (2011) Palmoplantar keratoderma and deafness: a de novo autosomal dominant mutation in the GJB2 gene encoding connexin 26. In: BRITISH JOURNAL OF DERMATOLOGY. (pp. 127 - 127). WILEY-BLACKWELL |
| Ferraz-de-Souza, B and Hudson-Davies, RE and Lin, L and Parnaik, R and Hubank, M and Dattani, MT and Achermann, JC (2011) Sterol O-Acyltransferase 1 (SOAT1, ACAT) Is a Novel Target of Steroidogenic Factor-1 (SF-1, NR5A1, Ad4BP) in the Human Adrenal. J CLIN ENDOCR METAB , 96 (4) E663 - E668. 10.1210/jc.2010-2021. |
| Ferraz-de-Souza, B and Lin, L and Achermann, JC (2011) Steroidogenic factor-1 (SF-1, NR5A1) and human disease. MOLECULAR AND CELLULAR ENDOCRINOLOGY , 336 (1-2) 198 - 205. 10.1016/j.mce.2010.11.006. |
| Ferraz-de-Souza, B and Lin, L and Shah, S and Jina, N and Hubank, M and Dattani, MT and Achermann, JC (2011) ChIP-on-chip analysis reveals angiopoietin 2 (Ang2, ANGPT2) as a novel target of steroidogenic factor-1 (SF-1, NR5A1) in the human adrenal gland. FASEB J , 25 (4) 1166 - 1175. 10.1096/fj.10-170522. |
| Flanagan, SE and Kapoor, RR and Banerjee, I and Hall, C and Smith, VV and Hussain, K and Ellard, S (2011) Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia. CLIN GENET , 79 (6) 582 - 587. 10.1111/j.1399-0004.2010.01476.x. |
| Flanagan, SE and Kapoor, RR and Hussain, K (2011) Genetics of congenital hyperinsulinemic hypoglycemia. SEMIN PEDIATR SURG , 20 (1) 13 - 17. 10.1053/j.sempedsurg.2010.10.004. |
| Flanagan, SE and Kapoor, RR and Smith, VV and Hussain, K and Ellard, S (2011) Paternal uniparental isodisomy of chromosome 11 p 15.5 within the pancreas causes isolated hyperinsulinemic hypoglycemia. Frontiers in Endocrinology , 2 (NOV) |
| Flanagan, SE and Patch, AM and Locke, JM and Akcay, T and Simsek, E and Alaei, M and Yekta, Z and Desai, M and Kapoor, RR and Hussain, K and Ellard, S (2011) Genome-Wide Homozygosity Analysis Reveals HADH Mutations as a Common Cause of Diazoxide-Responsive Hyperinsulinemic-Hypoglycemia in Consanguineous Pedigrees. J CLIN ENDOCR METAB , 96 (3) E498 - E502. 10.1210/jc.2010-1906. |
| Footitt, EJ and Heales, SJ and Mills, PB and Allen, GFG and Oppenheim, M and Clayton, PT (2011) Pyridoxal 5 '-phosphate in cerebrospinal fluid; factors affecting concentration. J INHERIT METAB DIS , 34 (2) 529 - 538. 10.1007/s10545-011-9279-7. |
| Franca, MM and Jorge, AAL and Alatzoglou, KS and Carvalho, LRS and Mendonca, BB and Audi, L and Carrascosa, A and Dattani, MT and Arnhold, IJP (2011) Absence of GH-Releasing Hormone (GHRH) Mutations in Selected Patients with Isolated GH Deficiency. J CLIN ENDOCR METAB , 96 (9) E1457 - E1460. 10.1210/jc.2011-0170. |
| Frapsauce, C and Ravel, C and Legendre, M and Sibony, M and Mandelbaum, J and Donadille, B and Achermann, JC and Siffroi, JP and Christin-Maitre, S (2011) Birth after TESE-ICSI in a man with hypogonadotropic hypogonadism and congenital adrenal hypoplasia linked to a DAX-1 (NR0B1) mutation. HUM REPROD , 26 (3) 724 - 728. 10.1093/humrep/deq372. |
| Frost, J and Monk, D and Moschidou, D and Guillot, PV and Stanier, P and Minger, SL and Fisk, NM and Moore, HD and Moore, GE (2011) The effects of culture on genomic imprinting profiles in human embryonic and fetal mesenchymal stem cells. Epigenetics , 6 (1) 52 - 62. 10.4161/epi.6.1.13361. |
| Frost, J and Schulz, R and Puszyk, W and Abu-Amero, S and Hussain, K and Hennekam, R and Oakey, R and Moore, GE (2011) The role of epialleles in growth disturbance syndromes. In: GENETICS RESEARCH. (pp. 437 - 437). |
G
| García-Obregón, S and Alfonso-Sánchez, MA and Gómez-Pérez, L and Pérez-Miranda, AM and Arroyo, D and de Pancorbo, MM and Peña, JA (2011) Microsatellites and Alu elements from the human MHC in Valencia (Spain): analysis of genetic relationships and linkage disequilibrium. Int J Immunogenet , 38 (6) 483 - 491. 10.1111/j.1744-313X.2011.01037.x. |
| Gaston-Massuet, C and Andoniadou, CL and Signore, M and Jayakody, SA and Charolidi, N and Kyeyune, R and Vernay, B and Jacques, TS and Taketo, MM and Le Tissier, P and Dattani, MT and Martinez-Barbera, JP (2011) Increased Wingless (Wnt) signaling in pituitary progenitor/stem cells gives rise to pituitary tumors in mice and humans. P NATL ACAD SCI USA , 108 (28) 11482 - 11487. 10.1073/pnas.1101553108. |
| Gault, EJ and Perry, RJ and Cole, TJ and Casey, S and Paterson, WF and Hindmarsh, PC and Betts, P and Dunger, DB and Donaldson, MDC and British Soc Paediat Endocrinology, (2011) Effect of oxandrolone and timing of pubertal induction on final height in Turner's syndrome: randomised, double blind, placebo controlled trial. BRIT MED J , 342 , Article d1980. 10.1136/bmj.d1980. |
| Goh, V and Dattani, M and Farwell, J and Shekhdar, J and Tam, E and Patel, S and Juttla, J and Simcock, I and Stirling, J and Mandeville, H and Aird, E and Hoskin, P (2011) Radiation dose from volumetric helical perfusion CT of the thorax, abdomen or pelvis. EUR RADIOL , 21 (5) 974 - 981. 10.1007/s00330-010-1997-y. |
| Gozzini, S and Sharif, K and Gissen, P and McKiernan, PJ (2011) TYROSINEMIA TYPE I IN THE NITISINONE ERA: WHICH FACTORS CAN PREDICT HEPATOCELLULAR CANCER? PEDIATR TRANSPLANT , 15 119 - 119. |
| Greene, NDE and Stanier, P and Moore, GE (2011) The emerging role of epigenetic mechanisms in the etiology of neural tube defects. EPIGENETICS-US , 6 (7) 875 - 883. 10.4161/epi.6.7.16400. |
H
| Heales, SJR and Menzes, A and Davey, GP (2011) Depletion of glutathione does not affect electron transport chain complex activity in brain mitochondria: Implications for Parkinson disease and postmortem studies. FREE RADICAL BIO MED , 50 (7) 899 - 902. 10.1016/j.freeradbiomed.2010.11.032. |
| Hendriksz, CJ and Gissen, P (2011) Glycogen storage disease. Paediatrics and Child Health , 21 (2) 84 - 89. |
| Heywood, W and Mills, KA and Carreno, G and Mills, PB and Worthington, V and Clayton, PT and Muntoni, F and Grunewald, S (2011) IDENTIFICATION OF C1INHIBITOR AS A POTENTIAL BIOMARKER FOR N- AND O-LINKED CONGENITAL DISORDERS OF GLYCOSYLATION (CDG). JOURNAL OF INHERITED METABOLIC DISEASE , 34 S182 - S182. |
| Heywood, WE and Madgett, TE and Wang, D and Wallington, A and Hogg, J and Mills, K and Avent, ND (2011) 2D DIGE analysis of maternal plasma for potential biomarkers of Down Syndrome. PROTEOME SCI , 9 , Article 56. 10.1186/1477-5956-9-56. |
| Hussain, K (2011) Investigations for neonatal hypoglycaemia. In: CLINICAL BIOCHEMISTRY. (pp. 465 - 466). PERGAMON-ELSEVIER SCIENCE LTD |
| Hussain, K and Challis, B and Rocha, N and Payne, F and Minic, M and Thompson, A and Daly, A and Scott, C and Harris, J and Smillie, BJL and Savage, DB and Ramaswami, U and De Lonlay, P and O'Rahilly, S and Barroso, I and Semple, RK (2011) An Activating Mutation of AKT2 and Human Hypoglycemia. SCIENCE , 334 (6055) 474 - 474. 10.1126/science.1210878. |
I
| Idkowiak, J and O'Riordan, S and Reisch, N and Malunowicz, EM and Collins, F and Kerstens, MN and Köhler, B and Graul-Neumann, LM and Szarras-Czapnik, M and Dattani, M and Silink, M and Shackleton, CH and Maiter, D and Krone, N and Arlt, W (2011) Pubertal Presentation in Seven Patients with Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency. Endocrinology , 152 (2) 741 - 742. |
| Idkowiak, J and O'Riordan, S and Reisch, N and Malunowicz, EM and Collins, F and Kerstens, MN and Kohler, B and Graul-Neumann, LM and Szarras-Czapnik, M and Dattani, M and Silink, M and Shackleton, CHL and Maiter, D and Krone, N and Arlt, W (2011) Pubertal Presentation in Seven Patients with Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency. J CLIN ENDOCR METAB , 96 (3) E453 - E462. 10.1210/jc.2010-1607. |
| Ikazoboh, EC and Dattani, M and Spoudeas, H (2011) ENDOCRINE, HYPOTHALAMIC AND NEURO-DEVELOPMENTAL OUTCOMES FOLLOWING TREATMENT OF CRANIOPHARYNGIOMAS. PEDIATR BLOOD CANCER , 57 (5) 805 - 805. |
| Ikazoboh, EC and Mankad, K and Kenan, D and Saunders, D and Dattani, M and Powell, M and Spoudeas, H (2011) ENDOCRINE AND HYPOTHALAMIC OUTCOMES FOLLOWING TRANSSPHENOIDAL AND TRANSCRANIAL SURGERY IN SELECTED PAEDIATRIC PATIENTS WITH CRANIOPHARYNGIOMA AT A SINGLE INSTITUTION ARE COMPARABLE. PEDIATR BLOOD CANCER , 57 (5) 807 - 807. |
| Ishida, M and Monk, D and Duncan, A and Abu-Amero, S and Chong, J and Ring, S and Pembrey, M and Hindmarsh, P and Whittaker, J and Stanier, P and Moore, GE (2011) Inheritance of a copy number variant in the imprinted PHLDA2 gene promoter significantly increases fetal birth weight. In: GENETICS RESEARCH. (pp. 435 - 435). |
| Ismail, D and Smith, VV and de Lonlay, P and Ribeiro, MJ and Rahier, J and Blankenstein, O and Flanagan, SE and Bellanné-Chantelot, C and Verkarre, V and Aigrain, Y and Pierro, A and Ellard, S and Hussain, K (2011) Familial focal congenital hyperinsulinism. J Clin Endocrinol Metab , 96 (1) 24 - 28. 10.1210/jc.2010-1524. |
| Ismail, D and Smith, VV and de Lonlay, P and Ribeiro, MJ and Rahier, J and Blankenstein, O and Flanagan, SE and Bellanne-Chantelot, C and Verkarre, V and Aigrain, Y and Pierro, A and Ellard, S and Hussain, K (2011) Familial Focal Congenital Hyperinsulinism. J CLIN ENDOCR METAB , 96 (1) 24 - 28. 10.1210/c.2010-1524. |
K
| Kantaputra, PN and Paramee, M and Kaewkhampa, A and Hoshino, A and Lees, M and McEntagart, M and Masrour, N and Moore, GE and Pauws, E and Stanier, P (2011) Cleft Lip with Cleft Palate, Ankyloglossia, and Hypodontia are Associated with TBX22 Mutations. J DENT RES , 90 (4) 450 - 455. 10.1177/0022034510391052. |  |
| Kapoor, RR and Flanagan, SE and James, CT and McKiernan, J and Thomas, AM and Harmer, SC and Shield, JP and Tinker, A and Ellard, S and Hussain, K (2011) Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations. DIABETOLOGIA , 54 (10) 2575 - 2583. 10.1007/s00125-011-2207-4. |
| Kayemba-Kay's, S and Ribrault, A and Burguet, A and Gouyon, JB and Riethmuller, D and Menget, A and Hindmarsh, PC (2011) Maternal smoking during pregnancy and foetal growth Effects in preterm infants of gestational age less than 33 weeks. SWISS MED WKLY , 141 , Article w13139. 10.4414/smw.2011.13139. |
| Kelberman, D and Islam, L and Jacques, TS and Russell-Eggitt, I and Bitner-Glindzicz, M and Khaw, PT and Nischal, KK and Sowden, JC (2011) CYP1B1-Related Anterior Segment Developmental Anomalies Novel Mutations for Infantile Glaucoma and Von Hippel's Ulcer Revisited. In: OPHTHALMOLOGY. (pp. 1865 - 1873). ELSEVIER SCIENCE INC |
| Kilby, MD and Franklyn, JA and Geary, M and Hindmarsh, PC (2011) The Relationship between Maternal Thyroid Hormones and Leptin Concentrations with Maternal and Newborn Anthropometric Measurements. REPROD SCI , 18 (3) 180A - 180A. |
| Kinsler, V (2011) Satellite lesions in congenital melanocytic nevi--time for a change of name. Pediatr Dermatol , 28 (2) 212 - 213. 10.1111/j.1525-1470.2010.01199.x. |
| Kinsler, V and Hennekam, R and Sebire, N and Abu-Amero, S and Stanier, P and Budd, P and Jackson, I and Moore, G and Healy, E (2011) Germline melanocortin-1 receptor variants are associated with severity of phenotype in individuals with congenital melanocytic naevi. In: BRITISH JOURNAL OF DERMATOLOGY. (pp. 117 - 117). WILEY-BLACKWELL |
| Kurian, MA and Gissen, P and Smith, M and Heales, SJR and Clayton, PT (2011) The monoamine neurotransmitter disorders: an expanding range of neurological syndromes. LANCET NEUROL , 10 (8) 721 - 733. |
| Kurian, MA and Li, Y and Zhen, JA and Meyer, E and Hai, N and Christen, HJ and Hoffmann, GF and Jardine, P and von Moers, A and Mordekar, SR and O'Callaghan, F and Wassmer, E and Wraige, E and Dietrich, C and Lewis, T and Hyland, K and Heales, SJR and Sanger, T and Gissen, P and Assmann, BE and Reith, MEA and Maher, ER (2011) Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study. LANCET NEUROL , 10 (1) 54 - 62. 10.1016/S1474-4422(10)70269-6. |
L
| Leung, KY and Mills, K and Burren, KA and Copp, AJ and Greene, NDE (2011) Quantitative analysis of myo-inositol in urine, blood and nutritional supplements by high-performance liquid chromatography tandem mass spectrometry. J CHROMATOGR B , 879 (26) 2759 - 2763. 10.1016/j.jchromb.2011.07.043. |
| Ling, H and Polke, JM and Sweeney, MG and Haworth, A and Sandford, CA and Heales, SJR and Wood, NW and Davis, MB and Lees, AJ (2011) An Intragenic Duplication in Guanosine Triphosphate Cyclohydrolase-1 Gene in a Dopa-Responsive Dystonia Family. MOVEMENT DISORD , 26 (5) 905 - 909. 10.1002/mds.23593. |
M
| Malik, AN and Shahni, R and Rodriguez-de-Ledesma, A and Laftah, A and Cunningham, P (2011) Mitochondrial DNA as a non-invasive biomarker: accurate quantification using real time quantitative PCR without co-amplification of pseudogenes and dilution bias. Biochem Biophys Res Commun , 412 (1) 1 - 7. 10.1016/j.bbrc.2011.06.067. |
| Mannikko, R and Flanagan, SE and Sim, XL and Segal, D and Hussain, K and Ellard, S and Hattersley, AT and Ashcroft, FM (2011) Mutations of the Same Conserved Glutamate Residue in NBD2 of the Sulfonylurea Receptor 1 Subunit of the K-ATP Channel Can Result in Either Hyperinsulinism or Neonatal Diabetes. DIABETES , 60 (6) 1813 - 1822. 10.2337/db10-1583. |
| Manwaring, V and Heywood, W and Heales, S and Price, J and Mills, K (2011) TRYING TO ELUCIDATE THE MECHANISM OF KIDNEY DAMAGE IN FABRY DISEASE THE USE OF GLYCOLIPID ARRAYS TO STUDY PROTEIN: LIPID INTERACTIONS IN THE KIDNEY. JOURNAL OF INHERITED METABOLIC DISEASE , 34 S235 - S235. |
| Martinez-Aguayo, A and Dattani, MT and Achermann, JC (2011) Gonadotropin hormones: disorders. In: Encyclopaedia of life sciences. (a0006089 - ?). John Wiley & Sons |
| McCabe, MJ and Alatzoglou, KS and Dattani, MT (2011) Septo-optic dysplasia and other midline defects: The role of transcription factors: HESX1 and beyond. BEST PRACT RES CL EN , 25 (1) 115 - 124. 10.1016/j.beem.2010.06.008. |
| McCabe, MJ and Gaston-Massuet, C and Tziaferi, V and Gregory, LC and Alatzoglou, KS and Signore, M and Puelles, E and Gerrelli, D and Farooqi, IS and Raza, J and Walker, J and Kavanaugh, SI and Tsai, PS and Pitteloud, N and Martinez-Barbera, JP and Dattani, MT (2011) Novel FGF8 Mutations Associated with Recessive Holoprosencephaly, Craniofacial Defects, and Hypothalamo-Pituitary Dysfunction. J CLIN ENDOCR METAB , 96 (10) E1709 - E1718. 10.1210/jc.2011-0454. |
| McCabe, MJ and Gaston-Massuet, C and Tziaferi, V and Gregory, LC and Alatzoglou, KS and Signore, M and Puelles, E and Gerrelli, D and Farooqi, IS and Raza, J and Walker, J and Kavanaugh, SI and Tsai, PS and Pitteloud, N and Martinez-Barbera, JP and Dattani, MT (2011) Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction. J Clin Endocrinol Metab , 96 (10) E1709 - E1718. 10.1210/jc.2011-0454. |
| Menghi, F and Jacques, TS and Barenco, M and Schwalbe, EC and Clifford, SC and Hubank, M and Ham, J (2011) Genome-Wide Analysis of Alternative Splicing in Medulloblastoma Identifies Splicing Patterns Characteristic of Normal Cerebellar Development. CANCER RES , 71 (6) 2045 - 2055. 10.1158/0008-5472.CAN-10-2519. |
| Miah, A and Yang, SY and Winslet, M (2011) AKT pathway as a potential therapeutic target for treating metastatic colorectal cancer. In: BRITISH JOURNAL OF SURGERY. (pp. 39 - 39). WILEY-BLACKWELL |
| Monk, D and Arnaud, P and Frost, JM and Wood, AJ and Cowley, M and Martin-Trujillo, A and Guillaumet-Adkins, A and Platas, II and Camprubi, C and Bourc'his, D and Feil, R and Moore, GE and Oakey, RJ (2011) Human imprinted retrogenes exhibit non-canonical imprint chromatin signatures and reside in non-imprinted host genes. NUCLEIC ACIDS RESEARCH , 39 (11) 4577 - 4586. 10.1093/nar/gkq1230. |
| Moore, GE (2011) What is the evidence for causal epigenetic influences on the Silver-Russell syndrome phenotype? EPIGENOMICS , 3 (5) 529 - 531. 10.2217/EPI.11.79. |
| Moore, GE and Oakey, R (2011) The role of imprinted genes in humans. Genome Biol , 12 (3) 106 - ?. 10.1186/gb-2011-12-3-106. |
N
| Nesbitt, V and Pitceathly, RDS and Rahman, S and Hanna, MG and McFarland, R and Turnbull, DM (2011) A3243G-more than just MELAS! In: NEUROMUSCULAR DISORDERS. (pp. S21 - S21). PERGAMON-ELSEVIER SCIENCE LTD |
| Nesbitt, V and Pitceathly, RDS and Rahman, S and Poulton, J and Turnbull, DM and Hanna, MG and McFarland, R (2011) The MRC Centre for Translational Research in Neuromuscular Disease: Mitochondrial Disease Patient Cohort Study UK. In: NEUROMUSCULAR DISORDERS. (pp. S29 - S30). PERGAMON-ELSEVIER SCIENCE LTD |
P
| Pabari, A and Sedaghati, T and Yang, SY and Butler, P and Mosahebi, A and Seifalian, AM (2011) Differentiation of adipose derived stem cells to Schwann cells on a novel nanocomposite polymer. In: BRITISH JOURNAL OF SURGERY. (pp. 59 - 59). WILEY-BLACKWELL |
| Pabari, A and Yang, SY and Butler, P and Mosahebi, A and Seifalian, AM (2011) Differentiation of schwann cells on a novel nanocomposite material for peripheral nerve regeneration. In: BRITISH JOURNAL OF SURGERY. (pp. E13 - E13). WILEY-BLACKWELL |
| Pabari, A and Yang, SY and Mosahebi, A and Seifalian, AM (2011) Recent advances in artificial nerve conduit design: strategies for the delivery of luminal fillers. J Control Release , 156 (1) 2 - 10. 10.1016/j.jconrel.2011.07.001. |
| Park, SE and Flanagan, SE and Hussain, K and Ellard, S and Shin, CH and Yang, SW (2011) Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism. European Journal of Endocrinology , 164 (6) 919 - 926. |
| Park, SE and Flanagan, SE and Hussain, K and Ellard, S and Shin, CH and Yang, SW (2011) Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism (European Journal of Endocrinology (2011) 164 (919-926)). European Journal of Endocrinology , 165 (3) 485 - 486. |
| Park, SE and Flanagan, SE and Hussain, K and Ellard, S and Shin, CH and Yang, SW (2011) Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism (vol 164, pg 919, 2011). EUR J ENDOCRINOL , 165 (3) 485 - 486. 10.1530/EJE-11-0160e. |
| Park, SE and Flanagan, SE and Hussain, K and Ellard, S and Shin, CH and Yang, SW (2011) Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism. Eur J Endocrinol , 164 (6) 919 - 926. 10.1530/EJE-11-0160. |
| Piers, TM and Heales, SJ and Pocock, JM (2011) Positive allosteric modulation of metabotropic glutamate receptor 5 down-regulates fibrinogen-activated microglia providing neuronal protection. Neurosci Lett , 505 (2) 140 - 145. 10.1016/j.neulet.2011.10.007. |
| Pitceathly, RDS and Fassone, E and Taanman, JW and Sadowski, M and Fratter, C and Mudanohwo, EE and Woodward, CE and Sweeney, MG and Holton, JL and Hanna, MG and Rahman, S (2011) Kearns-Sayre syndrome caused by defective R1/p53R2 assembly. NEUROMUSCULAR DISORDERS , 21 S21 - S21. |
| Pitceathly, RDS and Fassone, E and Taanman, JW and Sadowski, M and Fratter, C and Mudanohwo, EE and Woodward, CE and Sweeney, MG and Holton, JL and Hanna, MG and Rahman, S (2011) Kearns-Sayre syndrome caused by defective R1/p53R2 assembly. J MED GENET , 48 (9) 610 - 617. 10.1136/jmg.2010.088328. |
| Pitceathly, RDS and Fassone, E and Taanman, JW and Sadowski, M and Fratter, C and Mudanohwo, EE and Woodward, CE and Sweeney, MG and Holton, JL and Hanna, MG and Rahman, S (2011) KEARNS-SAYRE SYNDROME CAUSED BY MUTATIONS IN THE NUCLEAR RRM2B GENE. JOURNAL OF INHERITED METABOLIC DISEASE , 34 S158 - S158. |
| Pitt, K and James, C and Kochar, IS and Kapoor, A and Jain, S and Hussain, K and Bennett, K (2011) A single base-pair deletion in the WFS1 gene causes Wolfram syndrome. J Pediatr Endocrinol Metab , 24 (5-6) 389 - 391. |
| Powell, PD and Bellanné-Chantelot, C and Flanagan, SE and Ellard, S and Rooman, R and Hussain, K and Skae, M and Clayton, P and De Lonlay, P and Dunne, MJ and Cosgrove, KE (2011) In vitro recovery of ATP-sensitive potassium channels in β-cells from patients with congenital hyperinsulinism of infancy. Diabetes , 60 (4) 1223 - 1228. |
R
| Raffan, E and Soos, MA and Rocha, N and Tuthill, A and Thomsen, AR and Hyden, CS and Gregory, JW and Hindmarsh, P and Dattani, M and Cochran, E and Al Kaabi, J and Gorden, P and Barroso, I and Morling, N and O'Rahilly, S and Semple, RK (2011) Founder effect in the Horn of Africa for an insulin receptor mutation that may impair receptor recycling. DIABETOLOGIA , 54 (5) 1057 - 1065. 10.1007/s00125-011-2066-z. |
| Rahman, S (2011) Leigh syndrome. In: Koene, S and Smeitink, J, (eds.) Mitchondrial medicine a clinical guideline. (23 - 23). Khondrion: The Netherlands. |
| Rendtorff, ND and Lodahl, M and Boulahbel, H and Johansen, IR and Pandya, A and Welch, KO and Norris, VW and Arnos, KS and Bitner-Glindzicz, M and Emery, SB and Mets, MB and Fagerheim, T and Eriksson, K and Hansen, L and Bruhn, H and Moller, C and Lindholm, S and Ensgaard, S and Lesperance, MM and Tranebjaerg, L (2011) Identification of p.A684V Missense Mutation in the WFS1 Gene as a Frequent Cause of Autosomal Dominant Optic Atrophy and Hearing Impairment. AM J MED GENET A , 155A (6) 1298 - 1313. 10.1002/ajmg.a.33970. |
| Retrosi, G and Sebire, NJ and Bishay, M and Kiely, EM and Anderson, J and De Coppi, P and Resca, E and Rampling, D and Bier, N and Mills, K and Eaton, S and Pierro, A (2011) Brain lipid-binding protein: a marker of differentiation in neuroblastic tumors. J PEDIATR SURG , 46 (6) 1197 - 1200. 10.1016/j.jpedsurg.2011.03.053. |
| Rippel, RA and Nayyer, L and Yang, SY and Birchall, M and Butler, P and Seifalian, AM (2011) Development of scaffold for auricular tissue engineering using a novel nanocomposite polymer. In: BRITISH JOURNAL OF SURGERY. (pp. 58 - 58). WILEY-BLACKWELL |
| Rogge, FJ and Kerdjoudj, H and Yang, SY and Seifalian, AM and Grobbelaar, AO (2011) In vivo engineering of a myotendinous junction: a cornerstone in skeletal muscle tissue engineering. In: BRITISH JOURNAL OF SURGERY. (pp. E12 - E12). WILEY-BLACKWELL |
| Ronchi, D and Bordoni, A and Cosi, A and Rizzuti, M and Fassone, E and Di Fonzo, A and Servida, M and Sciacco, M and Collotta, M and Ronzoni, M and Lucchini, V and Mattioli, M and Moggio, M and Bresolin, N and Corti, S and Comi, GP (2011) Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation. Biochem Biophys Res Commun , 412 (2) 245 - 248. 10.1016/j.bbrc.2011.07.076. |
| Ronchi, D and Fassone, E and Bordoni, A and Sciacco, M and Lucchini, V and Di Fonzo, A and Rizzuti, M and Colombo, I and Napoli, L and Ciscato, P and Moggio, M and Cosi, A and Collotta, M and Corti, S and Bresolin, N and Comi, GP (2011) Two novel mutations in PEO1 (twinkle) gene associated with chronic external ophthalmoplegia. J Neurol Sci , 308 (1-2) 173 - 176. 10.1016/j.jns.2011.05.042. |
| Rooryck, C and Diaz-Font, A and Osborn, DPS and Chabchoub, E and Hernandez-Hernandez, V and Shamseldin, H and Kenny, J and Waters, A and Jenkins, D and Al Kaissi, A and Leal, GF and Dallapiccola, B and Carnevale, F and Bitner-Glindzicz, M and Lees, M and Hennekam, R and Stanier, P and Burns, AJ and Peeters, H and Alkuraya, FS and Beales, PL (2011) Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. NAT GENET , 43 (3) 197 - U36. 10.1038/ng.757. |
S
| Saihan, Z and Stabej, PL and Robson, AG and Rangesh, N and Holder, GE and Moore, AT and Steel, KP and Luxon, LM and Bitner-Glindzicz, M and Webster, AR (2011) MUTATIONS IN THE USH1C GENE ASSOCIATED WITH SECTOR RETINITIS PIGMENTOSA AND HEARING LOSS. RETINA-J RET VIT DIS , 31 (8) 1708 - 1716. |
| Salmi, H and Hussain, K and Lapatto, R (2011) Change in plasma and erythrocyte thiol levels in children undergoing fasting studies for investigation of hypoglycaemia. Endokrynologia, Diabetologia i Choroby Przemiany Materii Wieku Rozwojowego , 17 (1) 14 - 19. |
| Sedaghati, T and Yang, SY and Mosahebi, A and Alavijeh, MS and Seifalian, AM (2011) Nerve regeneration with aid of nanotechnology and cellular engineering. BIOTECHNOL APPL BIOC , 58 (5) 288 - 300. 10.1002/bab.51. |
| Shin, DS and Mahadeo, K and Min, SH and Diop-Bove, N and Clayton, P and Zhao, R and Goldman, ID (2011) Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption. MOLECULAR GENETICS AND METABOLISM , 103 (1) 33 - 37. 10.1016/j.ymgme.2011.01.008. |
| Stockler, S and Plecko, B and Jr, GSM and Coulter-Mackie, M and Connolly, M and van Karnebeek, C and Mercimek-Mahmutoglu, S and Hartmann, H and Scharer, G and Struijs, E and Tein, I and Jakobs, C and Clayton, P and Van Hove, JLK (2011) Pyridoxine dependent epilepsy and antiquitin deficiency Clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up. MOLECULAR GENETICS AND METABOLISM , 104 (1-2) 48 - 60. 10.1016/j.ymgme.2011.05.014. |
T
| Taanman, JW and Rahman, S and Clayton, P and Leonard, JV and King, R and Orth, M (2011) Mitochondrial respiratory chain enzyme deficiency expressed during muscle development. In: NEUROMUSCULAR DISORDERS. (pp. S23 - S23). PERGAMON-ELSEVIER SCIENCE LTD |
| Tomaselli, S and Megiorni, F and Lin, L and Mazzilli, MC and Gerrelli, D and Majore, S and Grammatico, P and Achermann, JC (2011) Human RSPO1/R-spondin1 Is Expressed during Early Ovary Development and Augments beta-Catenin Signaling. PLOS ONE , 6 (1) , Article e16366. 10.1371/journal.pone.0016366. | |
| Tuschl, K and Mills, PB and Shamshad, G and Singhi, P and Ribeiro, R and Zaki, M and Dyack, S and Gospe, SM and Wevers, R and Clayton, PT (2011) SYNDROME OF HYPERMANGANESAEMIA, DYSTONIA AND LIVER CIRRHOSIS-PHENOTYPES OF 14 NEW PATIENTS. JOURNAL OF INHERITED METABOLIC DISEASE , 34 S266 - S266. |
U
| Unsworth, AJ and Smith, H and Gissen, P and Watson, SP and Pears, CJ (2011) Submaximal Inhibition of Protein Kinase C Restores ADP-induced Dense Granule Secretion in Platelets in the Presence of Ca2+. J BIOL CHEM , 286 (24) 21073 - 21082. 10.1074/jbc.M110.187138. |
W
| Wang, YJ and Mazharian, A and Mori, J and Bem, D and Finney, B and Heising, S and Gissen, P and Douglas, M and White, JG and Benjamin, NG and Campbell, RD and Watson, SP and Senis, YA (2011) Severe GPVI deficiency and macrothrombocytopenia in mice lacking G6b-B. J THROMB HAEMOST , 9 10 - 10. |
| Warburton, PJ and Allan, E and Hunter, S and Ward, J and Booth, V and Wade, WG and Mullany, P (2011) Isolation of bacterial extrachromosomal DNA from human dental plaque associated with periodontal disease, using transposon-aided capture (TRACA). FEMS MICROBIOL ECOL , 78 (2) 349 - 354. 10.1111/j.1574-6941.2011.01166.x. |
| Watson, S and Daly, M and Dawood, B and Gissen, P and Makris, M and Mumford, A and Mundell, S and Wilde, J (2011) Identification of new platelet phenotypes through phenotyping and targetted sequencing. HAEMOPHILIA , 17 (2) 339 - 339. |
| Webb, EA and Dattani, MT (2011) Understanding hypopituitarism. Paediatrics and Child Health , 21 (7) 289 - 294. |
Y
| Yang, SY and Miah, A and Pabari, A and Winslet, M (2011) Growth Factors and their receptors in cancer metastases. FRONT BIOSCI-LANDMRK , 16 531 - U427. 10.2741/3703. |
| Yang, SY and Miah, A and Sales, KM and Fuller, B and Seifalian, AM and Winslet, M (2011) Inhibition of the p38 MAPK pathway sensitises human colon cancer cells to 5-fluorouracil treatment. INT J ONCOL , 38 (6) 1695 - 1702. 10.3892/ijo.2011.982. |
| Yang, SY and Winslet, M (2011) The igf system in carcinogenesis and its implication for cancer therapy. Curr Oncol , 18 (6) 301 - 302. |
| Yang, SY and Winslet, MC (2011) Dual role of autophagy in colon cancer cell survival. Ann Surg Oncol , 18 Suppl 3 S239 - ?. 10.1245/s10434-011-1789-x. |
Z
| Zani, A and Nah, SA and Ron, O and Totonelli, G and Ismail, D and Smith, VV and Ashworth, M and Blankenstein, O and Mohnike, W and De Coppi, P and Eaton, S and Hussain, K and Pierro, A (2011) The predictive value of preoperative fluorine-18-L-3,4-dihydroxyphenylalanine positron emission tomography-computed tomography scans in children with congenital hyperinsulinism of infancy. J PEDIATR SURG , 46 (1) 204 - 208. 10.1016/j.jpedsurg.2010.09.093. |