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Number of items: 164.

A

Abu-Amara, M and Yang, S and Fuller, B and Davidson, B (2010) Hind limb remote ischaemic preconditioning induces hepatic iNOS expression leading to protection against liver IR injury. In: BRITISH JOURNAL OF SURGERY. (pp. 80 - 80).

Abu-Amara, M and Yang, S and Seifalian, A and Davidson, BR and Fuller, B (2010) Mouse hindlimb remote ischaemic preconditioning reduces liver ischaemia reperfusion injury and improves hepatic microcirculatory blood flow. In: BRITISH JOURNAL OF SURGERY. (pp. 38 - 38). JOHN WILEY & SONS LTD

Abu-Amara, M and Yang, S and Seifalian, A and Davidson, BR and Fuller, B (2010) Nitric oxide and endothelial nitric oxide synthase activity are a prerequisite for the protective effects of hindlimb remote ischaemic preconditioning on liver ischaemia reperfusion injury. In: BRITISH JOURNAL OF SURGERY. (pp. 30 - 30). JOHN WILEY & SONS LTD

Abu-Amara, M and Yang, SY and Tapuria, N and Fuller, B and Davidson, B and Seifalian, A (2010) Liver Ischemia/Reperfusion Injury: Processes in Inflammatory Networks-A Review. LIVER TRANSPLANT , 16 (9) 1016 - 1032. 10.1002/lt.22117.

Abu-Amero, S and Wakeling, EL and Preece, M and Whittaker, J and Stanier, P and Moore, GE (2010) Epigenetic signatures of Silver-Russell syndrome. J MED GENET , 47 (3) 150 - 154. 10.1136/jmg.2009.071316.

Achermann, JC and Jameson, JL (2010) Disorders of sex development. In: Harrison's endocrinology. (144 - 155). McGraw-Hill: New York.

Al-Mahdi, M and Al Mutair, A and Al Balwi, M and Hussain, K (2010) Successful transfer from insulin to oral sulfonylurea in a 3-year-old girl with a mutation in the KCNJ11 gene. ANN SAUDI MED , 30 (2) 162 - 164. 10.4103/0256-4947.60526.
An open access publication

Alatzoglou, KS and Dattani, MT (2010) Genetic causes and treatment of isolated growth hormone deficiency-an update. NAT REV ENDOCRINOL , 6 (10) 562 - 576. 10.1038/nrendo.2010.147.

Alfonso-Sanchez, MA and Perez-Miranda, AM and Garcia-Obregon, S and Pena, JA (2010) An evolutionary approach to the high frequency of the Delta F508 CFTR mutation in European populations. MED HYPOTHESES , 74 (6) 989 - 992. 10.1016/j.mehy.2009.12.018.

Allen, GFG and Neergheen, V and Oppenheim, M and Fitzgerald, JC and Footitt, E and Hyland, K and Clayton, PT and Land, JM and Heales, SJR (2010) Pyridoxal 5'-phosphate deficiency causes a loss of aromatic l-amino acid decarboxylase in patients and human neuroblastoma cells, implications for aromatic l-amino acid decarboxylase and vitamin B-6 deficiency states. J NEUROCHEM , 114 (1) 87 - 96. 10.1111/j.1471-4159.2010.06742.x.

Alston, CL and Morak, M and Reid, C and Hargreaves, IP and Pope, SA and Land, JM and Heales, SJ and Horvath, R and Mundy, H and Taylor, RW (2010) A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy. Neuromuscul Disord , 20 (2) 131 - 135. 10.1016/j.nmd.2009.10.010.

Anacleto, FE and Bruce, LJ and Clayton, P and Hegde, S and Resontoc, LP and Wrong, O (2010) Distal renal tubular acidosis in Filipino children, caused by mutations of the anion-exchanger SLC4A1 (AE1, Band 3) gene. Nephron - Physiology , 114 (2) p19 - p24.

Arnoux, J-B and de Lonlay, P and Ribeiro, M-J and Hussain, K and Blankenstein, O and Mohnike, K and Valayannopoulos, V and Robert, J-J and Rahier, J and Sempoux, C and Bellanné, C and Verkarre, V and Aigrain, Y and Jaubert, F and Brunelle, F and Nihoul-Fékété, C (2010) Congenital hyperinsulinism. Early Human Development , 86 (5) 287 - 294.

B

Baratelli, E and Edwards, M and Carecchio, M and Jarman, PR and Heales, SJR and Bhatia, KP (2010) Juvenile onset dystonia-parkinsonism associated with cerebral folate deficiency. In: MOVEMENT DISORDERS. (pp. S229 - S229). WILEY-LISS

Bashamboo, A and Ferraz-de-Souza, B and Lourenco, D and Lin, L and Sebire, NJ and Montjean, D and Bignon-Topalovic, J and Mandelbaum, J and Siffroi, JP and Christin-Maitre, S and Radhakrishna, U and Rouba, H and Ravel, C and Seeler, J and Achermann, JC and McElreavey, K (2010) Human Male Infertility Associated with Mutations in NR5A1 Encoding Steroidogenic Factor 1. AM J HUM GENET , 87 (4) 505 - 512. 10.1016/j.ajhg.2010.09.009.

Bashamboo, A and Ledig, S and Wieacker, P and Achermann, JC and McElreavey, K (2010) New technologies for the identification of novel genetic markers of disorders of sex development (DSD). Sex Dev , 4 (4-5) 213 - 224. 10.1159/000314917.

Bennett, K and Callard, R and Heywood, W and Harper, J and Jayakumar, A and Clayman, GL and Di, WL and Mills, K (2010) New Role for LEKTI in Skin Barrier Formation: Label-Free Quantitative Proteomic Identification of Caspase 14 as a Novel Target for the Protease Inhibitor LEKTI. J PROTEOME RES , 9 (8) 4289 - 4294. 10.1021/pr1003467.

Bennett, K and James, C and Hussain, K (2010) Pancreatic beta-cell K-ATP channels: Hypoglycaemia and hyperglycaemia. REV ENDOCR METAB DIS , 11 (3) 157 - 163. 10.1007/s11154-010-9144-2.

Bitner-Glindzicz, M and Osei-Lah, V and Colvin, I and Sirimanna, T and Lucas, D and Mac Ardle, B and Webb, D and Shankar, A and Kingston, J and Jenkins, L and Rahman, S (2010) Aminoglycoside-induced deafness during treatment of acute leukaemia. B M J PUBLISHING GROUP

Bockenhauer, D and van't Hoff, W and Dattani, M and Lehnhardt, A and Subtirelu, M and Hildebrandt, F and Bichet, DG (2010) Secondary Nephrogenic Diabetes Insipidus as a Complication of Inherited Renal Diseases. NEPHRON PHYSIOL , 116 (4) P23 - P29. 10.1159/000320117.

Bolaños, JP and Heales, SJ (2010) Persistent mitochondrial damage by nitric oxide and its derivatives: neuropathological implications. Front Neuroenergetics , 2 1 - ?. 10.3389/neuro.14.001.2010.

Bostanci, N and Heywood, W and Mills, K and Parkar, M and Nibali, L and Donos, N (2010) Application of Label-Free Absolute Quantitative Proteomics in Human Gingival Crevicular Fluid by LC/MSE (Gingival Exudatome). J PROTEOME RES , 9 (5) 2191 - 2199. 10.1021/pr900941z.

Brain, CE and Creighton, SM and Mushtaq, I and Carmichael, PA and Barnicoat, A and Honour, JW and Larcher, V and Achermann, JC (2010) Holistic management of DSD. Best Practice and Research Clinical Endocrinology and Metabolism , 24 (2) 335 - 354. 10.1016/j.beem.2010.01.006.
An open access publication

Brown, RM and Glamuzina, E and Grunewald, S and Chong, WK and Rahman, S (2010) MITOCHONDRIAL ARGINYL-tRNA SYNTHETASE DEFICIENCY: ACUTE NEONATAL PRESENTATION WITH LACTIC ACIDOSIS. In: JOURNAL OF INHERITED METABOLIC DISEASE. (pp. S84 - S84).

Bruce, C and Hartley, J and McKay, K and Brown, R and Baumann, U and Clayton, P and Sturm, E and Udd, B and McKiernan, P and Shah, I and Mirza, R and Cheema, H and McCullen, D and MacDonald, F and Maher, ER and Knisely, AS and Hendriksz, CJ and Kelly, DA and Gissen, P (2010) The use of BRUM1 resequencing microarray to identify mutations in patients with cholestatic disorders. In: JOURNAL OF MEDICAL GENETICS. (pp. S58 - S58). B M J PUBLISHING GROUP

Bruce, CK and Smith, M and Rahman, F and Liu, ZF and McMullan, DJ and Ball, S and Hartley, J and Kroos, MA and Heptinstall, L and Reuser, AJJ and Rolfs, A and Hendriksz, C and Kelly, DA and Barrett, TG and MacDonald, F and Maher, ER and Gissen, P (2010) Design and Validation of a Metabolic Disorder Resequencing Microarray (BRUM1). HUM MUTAT , 31 (7) 858 - 865. 10.1002/humu.21261.

C

Chan, LF and Hughes, CR and Allgrove, JA and Martin, L and Afshar, F and Hindmarsh, PC and Savage, MO and Grossman, AB and Storr, HL (2010) Use of Intravenous Etomidate in a Child To Control Acute Psychosis Induced by the Hypercortisolemia Secondary to Severe Cushing's Disease. In: ENDOCRINE REVIEWS. (pp. ? - ?). ENDOCRINE SOC

Cherubini, V and Bagalini, LS and Ianilli, A and Marigliano, M and Biagioni, M and Carnielli, V and Iasonni, V and Berbellini, A and Hussain, K and Gabrielli, O (2010) Rapid genetic analysis, imaging with18F-DOPA-PET/CT scan and laparoscopic surgery in congenital hyperinsulinism. Journal of Pediatric Endocrinology and Metabolism , 23 (1-2) 171 - 177.

Chong, CPK and Mills, PB and McClean, P and Clayton, PT (2010) A NEW INBORN ERROR OF BILE ACID SYNTHESIS BILE ACID-CoA LIGASE DEFICIENCY. J INHERIT METAB DIS , 33 S122 - S122.

Clayton, P and Fischer, B and Mann, A and Mansour, S and Rossier, E and Veen, M and Lang, C and Baasanjav, S and Kieslich, M and Brossuleit, K and Gravemann, S and Schnipper, N and Karbasyian, M and Demuth, I and Zwerger, M and Vaya, A and Utermann, G and Mundlos, S and Stricker, S and Sperling, K and Hoffmann, K (2010) Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein. Nucleus , 1 (4) 354 - 366. 10.4161/nucl.1.4.12435.

Cooley, SM and Donnelly, JC and Collins, C and Geary, MP and Rodeck, CH and Hindmarsh, PC (2010) The relationship between maternal insulin-like growth factors 1 and 2 (IGF-1, IGF-2) and IGFBP-3 to gestational age and preterm delivery. J PERINAT MED , 38 (3) 255 - 259. 10.1515/JPM.2010.019.

Cooley, SM and Donnelly, JC and Geary, MP and Rodeck, CH and Hindmarsh, PC (2010) Maternal insulin-like growth factors 1 and 2 (IGF-1, IGF-2) and IGF BP-3 and the hypertensive disorders of pregnancy. J MATERN-FETAL NEO M , 23 (7) 658 - 661. 10.3109/14767050903301033.

Crugnola, V and Lamperti, C and Lucchini, V and Ronchi, D and Peverelli, L and Prelle, A and Sciacco, M and Bordoni, A and Fassone, E and Fortunato, F and Corti, S and Silani, V and Bresolin, N and Di Mauro, S and Comi, GP and Moggio, M (2010) Mitochondrial respiratory chain dysfunction in muscle from patients with amyotrophic lateral sclerosis. Arch Neurol , 67 (7) 849 - 854. 10.1001/archneurol.2010.128.

Cullinane, AR and Straatman-Iwanowska, A and Zaucker, A and Wakabayashi, Y and Bruce, CK and Luo, GM and Rahman, F and Gurakan, F and Utine, E and Ozkan, TB and Denecke, J and Vukovic, J and Di Rocco, M and Mandel, H and Cangul, H and Matthews, RP and Thomas, SG and Rappoport, JZ and Arias, IM and Wolburg, H and Knisely, AS and Kelly, DA and Muller, F and Maher, ER and Gissen, P (2010) Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization. NAT GENET , 42 (4) 303 - U55. 10.1038/ng.538.

D

Daelemans, C and Ritchie, ME and Smits, G and Abu-Amero, S and Sudbery, IM and Forrest, MS and Campino, S and Clark, TG and Stanier, P and Kwiatkowski, D and Deloukas, P and Dermitzakis, ET and Tavare, S and Moore, GE and Dunham, I (2010) High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placenta. BMC Genetics , 11 , Article 25. 10.1186/1471-2156-11-25.
An open access publication. A version is also available from UCL Discovery.
 file

Dartnell, LR and Hunter, SJ and Lovell, KV and Coates, AJ and Ward, JM (2010) Low-Temperature Ionizing Radiation Resistance of Deinococcus radiodurans and Antarctic Dry Valley Bacteria. ASTROBIOLOGY , 10 (7) 717 - 732. 10.1089/ast.2009.0439.

Davison, JE and Hendriksz, CJ and Sun, Y and Davies, NP and Gissen, P and Peet, AC (2010) Quantitative in vivo brain magnetic resonance spectroscopic monitoring of neurological involvement in mucopolysaccharidosis type II (Hunter Syndrome). J Inherit Metab Dis 10.1007/s10545-010-9197-0.

Davison, JE and Sun, Y and Wilson, M and Chakrapani, A and Hendriksz, CJ and Vijay, S and Wassmer, E and Davies, N and Peet, AC and Gissen, P (2010) LACTIC ACID AND BEYOND: QUANTITATIVE IN VIVO METABOLOMIC ANALYSIS OF MITOCHONDRIAL DISEASE USING MAGNETIC RESONANCE SPECTROSCOPY. J INHERIT METAB DIS , 33 S87 - S87.

Davison, JE and Wilson, M and Vijay, S and MacPherson, L and Peet, AC and Gissen, P (2010) NAIL POLISH REMOVER AND THE DEVELOPING BRAIN: ANTENATAL ONSET PYRUVATE CARBOXYLASE DEFICIENCY. J INHERIT METAB DIS , 33 S70 - S70.

Duberley, KEC and Heales, SJR and Rahman, S and Allen, G and Hargreaves, IP (2010) ESTABLISHMENT OF A NEURONAL CELL MODEL OF COENZYME Q10 DEFICIENCY: IMPLICATIONS FOR PATHOGENESIS AND TREATMENT OF DISORDERS OF COENZYME Q10 BIOSYNTHESIS. In: J INHERIT METAB DIS. (pp. S80 - S80). SPRINGER

E

Ebberink, MS and Csanyi, B and Chong, WK and Denis, S and Sharp, P and Mooijer, PAW and Dekker, CJM and Spooner, C and Ngu, LH and De Sousa, C and Wanders, RJA and Fietz, MJ and Clayton, PT and Waterham, HR and Ferdinandusse, S (2010) Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene. J MED GENET , 47 (9) 608 - 615. 10.1136/jmg.2009.074302.

Evans, RM and Harridge, SD and Velloso, CP and Yang, SY and Goldspink, G and Orrell, RW (2010) Investigation of MGF mRNA expression in patients with amyotrophic lateral sclerosis using parallel in vivo and in vitro approaches. Amyotroph Lateral Scler , 11 (1-2) 172 - 177. 10.3109/17482960903089775.

F

Fassone, E and Duncan, AJ and Rahman, S (2010) Complex I-deficient Leigh syndrome caused by a novel homozygous deletion in NDUFS4. In: NEUROMUSCULAR DISORDERS. (pp. S25 - S26). 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 (2010) FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy. HUM MOL GENET , 19 (24) 4837 - 4847. 10.1093/hmg/ddq414.

Fiocco, F. (2010) Identification of novel interacting partners of the pre-mRNA processing factor 31. Doctoral thesis, UCL (University College London).

Flanagan, S. E. and Kapoor, R. R. and Mali, G. and Cody, D. and Murphy, N. and Schwahn, B. and Siahanidou, T. and Banerjee, I. and Akcay, T. and Rubio-Cabezas, O. and Shield, J. P. H. and Hussain, K. and Ellard, S. (2010) Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations. European Journal of Endocrinology , 162 (5) pp. 987-992. 10.1530/EJE-09-0861.
An open access version is available from UCL Discovery
 file

Flanagan, SE and Kapoor, RR and Mali, G and Cody, D and Murphy, N and Schwahn, B and Siahanidou, T and Banerjee, I and Akcay, T and Rubio-Cabezas, O and Shield, JPH and Hussain, K and Ellard, S (2010) Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations. EUR J ENDOCRINOL , 162 (5) 987 - 992. 10.1530/EJE-09-0861.

Fratter, C and Gorman, GS and Stewart, JD and Buddles, M and Smith, C and Evans, J and Seller, A and Poulton, J and Roberts, M and Hanna, MG and Rahman, S and Omer, SE and Klopstock, T and Schoser, B and Kornblum, C and Czermin, B and Lecky, B and Blakely, EL and Craig, K and Chinnery, PF and Turnbull, DM and Horvath, R and Taylor, RW (2010) The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO. NEUROLOGY , 74 (20) 1619 - 1626.

Fratter, C and Gorman, GS and Stewart, JD and Buddles, M and Smith, C and Evans, J and Seller, A and Poulton, J and Roberts, M and Hanna, MG and Rahman, S and Omer, SE and Klopstock, T and Schoser, B and Kornblum, C and Czermin, B and Lecky, B and Blakely, EL and Craig, K and Chinnery, PF and Turnbull, DM and Horvath, R and Taylor, RW (2010) The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO. Neurology , 74 (20) 1619 - 1626.

Frost, JM and Monk, D and Stojilkovic-Mikic, T and Woodfine, K and Chitty, LS and Murrell, A and Stanier, P and Moore, GE (2010) Evaluation of allelic expression of imprinted genes in adult human blood. PLoS One , 5 (10) , Article e13556. 10.1371/journal.pone.0013556.
An open access publication. A version is also available from UCL Discovery.
 file

Frost, JM and Moore, GE (2010) The importance of imprinting in the human placenta. PLoS Genet , 6 (7) e1001015 - ?. 10.1371/journal.pgen.1001015.
An open access publication

Frost, JM and Udayashankar, R and Moore, HD and Moore, GE (2010) Telomeric NAP1L4 and OSBPL5 of the KCNQ1 cluster, and the DECORIN gene are not imprinted in human trophoblast stem cells. PLOS One , 5 (7) , Article e11595. 10.1371/journal.pone.0011595.
An open access publication. A version is also available from UCL Discovery.
 file

G

Garcia-Obregon, S and Alfonso-Sanchez, MA and Perez-Miranda, AM and Gomez-Perez, L and de Pancorbo, MM and Pena, JA (2010) Genetic variability in autochthonous Basques from Guipuzcoa: a view from MHC microsatellites. INT J IMMUNOGENET , 37 (4) 279 - 287. 10.1111/j.1744-313X.2010.00921.x.

Garin, I and Edghill, EL and Akerman, I and Rubio-Cabezas, O and Rica, I and Locke, JM and Maestro, MA and Alshaikh, A and Bundak, R and Del Castillo, G and Deeb, A and Deiss, D and Fernandez, JM and Godbole, K and Hussain, K and O'Connell, M and Klupa, T and Kolouskova, S and Mohsin, F and Perlman, K and Sumnik, Z and Rial, JM and Ugarte, E and Vasanthi, T and Johnstone, K and Flanagan, SE and Martínez, R and Castaño, C and Patch, A-M and Fernández-Rebollo, E and Raile, K and Morgan, N and Harries, LW and Castaño, L and Ellard, S and Ferrer, J and De Nanclares, GP and Hattersley, AT and Bas, F and Cinek, O and Malecki, M and Rachmiel, M (2010) Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis. Proceedings of the National Academy of Sciences of the United States of America , 107 (7) 3105 - 3110.

Gaston-Massuet, C and Andoniadou, CL and Signore, M and Jayakody, S and Charolidi, N and Le Tissier, P and Dattani, M and Martinez-Barbera, JP (2010) Enhancement of the Canonical Wnt Pathway in Rathke's Pouch Results in Pituitary Tumours Reminiscent of Human Adamantinomatous Craniopharyngioma. In: ENDOCRINE REVIEWS. (pp. S2523 - S2523). ENDOCRINE SOC

Gissen, P (2010) Defects in VIPAR and VPS33B cause Arthrogryposis, Renal dysfunction and Cholestasis syndrome (ARC) and disturbed apical-basolateral polarity. In: JOURNAL OF MEDICAL GENETICS. (pp. S37 - S37). B M J PUBLISHING GROUP

Gomez-Perez, L and Alfonso-Sanchez, MA and Perez-Miranda, AM and Garcia-Obregon, S and Builes, JJ and Bravo, ML and De Pancorbo, MM and Pena, JA (2010) Genetic admixture estimates by Alu elements in Afro-Colombian and Mestizo populations from Antioquia, Colombia. ANN HUM BIOL , 37 (4) 488 - 500. 10.3109/03014460903433810.

Gozzi, T and Fluck, CE and L'Allemand, D and Dattani, MT and Hindmarsh, PC and Mullis, PE (2010) Do centimetres matter? Self-reported versus estimated height measurements in parents. ACTA PAEDIATR , 99 (4) 569 - 574. 10.1111/j.1651-2227.2009.01654.x.

Graves, T and Phadke, R and Holton, JL and Hanna, MG and Rahman, S and Bhardwaj, N (2010) ELECTRON MICROSCOPY DOES NOT ADD TO THE DIAGNOSTIC ACCURACY OF MUSCLE BIOPSY FOR SUSPECTED MITOCHONDRIAL DISEASE. In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. (pp. E65 - E65). B M J PUBLISHING GROUP

Guclu, M and Lin, L and Erturk, E and Achermann, JC and Cangul, H (2010) Puberty, stress, and sudden death. LANCET , 376 (9751) 1512 - 1512.

H

Hartley, JL and Bruce, C and Mckay, K and Brown, RM and Baumann, U and Sturm, E and Udd, B and McKiernan, PJ and McMullen, D and Mansson, JE and MacDonald, F and Maher, ER and Knisely, AS and Hendriksz, CJ and Kelly, DA and Gissen, P (2010) THE USE OF BRUM1 RESEQUENCING MICROARRAY TO IDENTIFY MUTATIONS IN PATIENTS WITH NEONATAL CHOLESTASIS. In: HEPATOLOGY. (pp. 1032A - 1033A). WILEY-BLACKWELL

Hartley, JL and Zachos, NC and Dawood, B and Donowitz, M and Forman, J and Pollitt, RJ and Morgan, NV and Tee, L and Gissen, P and Kahr, WHA and Knisely, AS and Watson, S and Chitayat, D and Booth, IW and Protheroe, S and Murphy, S and De Vries, E and Kelly, DA and Maher, ER (2010) Mutations in TTC37 Cause Trichohepatoenteric Syndrome (Phenotypic Diarrhea of Infancy). GASTROENTEROLOGY , 138 (7) 2388 - U249. 10.1053/j.gastro.2010.02.010.

Hartley, JL and Zachos, NC and Dawood, B and Donowitz, M and Forman, J and Pollitt, RJ and Morgan, NV and Tee, L and Gissen, P and Kahr, WHA and Knisely, AS and Watson, S and Chitayat, D and Booth, IW and Protheroe, S and Murphy, S and de Vries, E and Kelly, DA and Maher, ER (2010) Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhoea of infancy). In: JOURNAL OF MEDICAL GENETICS. (pp. S25 - S25). B M J PUBLISHING GROUP

Heales, SJR and Manwaring, V and Mills, K and Berry, A and Allen, G and Heywood, W and Burke, D (2010) GLUCOCEREBROSIDASE ACTIVITY & PARKINSONISM-POTENTIAL PATHOGENIC MECHANISMS. J INHERIT METAB DIS , 33 S129 - S129.

Hendriksz, C and Bruce, C and Gissen, P (2010) Molecular diagnosis of Lysosomal Storage Disorders by using resequencing array technology. In: MOLECULAR GENETICS AND METABOLISM. (pp. S20 - S20). ACADEMIC PRESS INC ELSEVIER SCIENCE

Heywood, WE and Mills, KM and Yuzugulen, J and Worthington, V and Wang, D and Mills, PB and Burke, D and Clayton, PT and Grunewald, S (2010) PROTEOMIC ANALYSIS REVEALS POTENTIAL ALTERNATIVE MARKER PROTEINS FOR THE DIAGNOSIS OF CONGENITAL DISORDERS OF GLYCOSYLATION TYPES I AND II. J INHERIT METAB DIS , 33 S73 - S73.

Hiby, SE and Apps, R and Sharkey, AM and Farrell, LE and Gardner, L and Mulder, A and Claas, FH and Walker, JJ and Redman, CC and Morgan, L and Tower, C and Regan, L and Moore, GE and Carrington, M and Moffett, A (2010) Maternal activating KIRs protect against human reproductive failure mediated by fetal HLA-C2. JOURNAL OF CLINICAL INVESTIGATION , 120 (11) 4102 - 4110. 10.1172/JCI43998.

Hindmarsh, PC (2010) Current indications for growth hormone therapy. Preface. Endocr Dev , 18 VII - ?.

Hindmarsh, PC and Bryan, S and Geary, MPP and Cole, TJ (2010) Effects of Current Size, Postnatal Growth, and Birth Size on Blood Pressure in Early Childhood. PEDIATRICS , 126 (6) E1507 - E1513. 10.1542/peds.2010-0358.

Hunt, J and Macdonald, F and Bell, J and Gissen, P (2010) Implementation of a Diagnostic Service for Niemann-Pick Type C Testing. In: JOURNAL OF MEDICAL GENETICS. (pp. S67 - S67). B M J PUBLISHING GROUP

Hussain, K (2010) Congenital hyperinsulinism and neonatal diabetes mellitus. REV ENDOCR METAB DIS , 11 (3) 155 - 156. 10.1007/s11154-010-9152-2.

Hussain, K (2010) Mutations in pancreatic beta-cell Glucokinase as a cause of hyperinsulinaemic hypoglycaemia and neonatal diabetes mellitus. REV ENDOCR METAB DIS , 11 (3) 179 - 183. 10.1007/s11154-010-9147-z.

Hyland, K and Shoffner, J and Heales, SJ (2010) Cerebral folate deficiency. J Inherit Metab Dis , 33 (5) 563 - 570. 10.1007/s10545-010-9159-6.

I

Idkowiak, J and O'Riordan, S and Malunowicz, EM and Collins, F and Kerstens, M and Reisch, N and Szarras-Czapnik, M and Maiter, D and Sillink, M and Dattani, M and Shackleton, CHL and Krone, N and Arlt, W (2010) Pubertal Presentation in Congenital Adrenal Hyperplasia Due to P450 Oxidoreductase Deficiency. In: ENDOCRINE REVIEWS. (pp. ? - ?). ENDOCRINE SOC

Igreja, S and Chahal, HS and King, P and Bolger, GB and Srirangalingam, U and Guasti, L and Chapple, JP and Trivellin, G and Gueorguiev, M and Guegan, K and Stals, K and Khoo, B and Kumar, AV and Ellard, S and Grossman, AB and Korbonits, M and Int FIPA Consortiumz, (2010) Characterization of Aryl Hydrocarbon Receptor Interacting Protein (AIP) Mutations in Familial Isolated Pituitary Adenoma Families. HUM MUTAT , 31 (8) 950 - 960. 10.1002/humu.21292.

Ioannou, N and Hargreaves, IP and Allen, G and Duberley, K and Land, JM and Heales, SJ (2010) Bezafibrate induced increase in mitochondrial electron transport chain complex IV activity in human astrocytoma cells: Implications for mitochondrial cytopathies and neurodegenerative diseases. Biofactors , 36 (6) 468 - 473. 10.1002/biof.120.

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This list was generated on Wed Jun 19 04:59:12 2013 BST.