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Number of items: 121.

A

Abu-Amero, S and Bohlega, S and Barucha, V and Hodgkinson, C and Lach, B and Boumah, C and Cupler, EJ and Kambouris, M and Meyer, BF (2002) Autosomal dominant hyaline body myopathy in a Saudi Arabian family is linked to chromosome 14q. In: JOURNAL OF MEDICAL GENETICS. (pp. S71 - S71). BRITISH MED JOURNAL PUBL GROUP

Achermann, JC (2002) Highlights of the 41st Meeting of the European Society for Paediatric Endocrinology. Highlights , 4 1 - 28.

Achermann, JC and Ozisik, G and Ito, M and Orun, UA and Harmanci, K and Gurakan, B and Jameson, JL (2002) Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner. J CLIN ENDOCR METAB , 87 (4) 1829 - 1833.

Achermann, JC and Ozisik, G and Meeks, JJ and Jameson, JL (2002) Clinical perspective: Genetic mutations in human reproductive disease. J Clin Endocrinol Metabol , 87 2447 - 2454.

Achermann, JC and Ozisik, G and Meeks, JJ and Jameson, JL (2002) Genetic causes of human reproductive disease. J CLIN ENDOCR METAB , 87 (6) 2447 - 2454.

Amin, R and Murphy, N and Edge, J and Ahmed, ML and Acerini, CL and Dunger, DB (2002) A longitudinal study of the effects of a gluten-free diet on glycemic control and weight gain in subjects with type 1 diabetes and celiac disease. Diabetes Care , 25 (7) 1117 - 1122.

Apostolidou, S and Williams, A and O Donoghue, K and Montamedi, Z and Stanier, P and Loughna, P and Moore, GE (2002) Analysis of imprinted genes on 11p15.5 associated with interuterine growth. In: The American Journal of Human Genetics. (pp. A2291 - A2291).

Apostolidou, S and Williams, A and O'Donoghue, K and Montamedi, Z and Stanier, P and Loughna, P and Moore, GE (2002) Analysis of imprinted genes on 11p15.5 associated with intrauterine growth. In: AMERICAN JOURNAL OF HUMAN GENETICS. (pp. 561 - 561). UNIV CHICAGO PRESS

Arya, VB and Agarwal, R and Aggarwal, R and Paul, VK and Deorari, AK (2002) Efficacy of oral phenobarbitone in at-risk neonates in decreasing neonatal hyperbilirubinemia. PEDIATRIC RESEARCH , 51 (4) 399A - 400A.

Assmann, B and K hler, M and Hoffmann, G and Heales, S and Surtees, R (2002) Central seratonin turnover in children with generalised non-DOPA responsive dystonia. Pediatric Research , 51 91 - 94.

Assmann, B and Kohler, M and Hoffmann, GF and Heales, S and Surtees, R (2002) Selective decrease in central nervous system serotonin turnover in children with dopa-nonresponsive dystonia. Pediatric Research , 52 (1) 91 - 94.

Aynsley-Green, A and Hussain, K (2002) Common neonatal endocrine disorders: hypoglycaemia. In: Wass, JAH and Shalet, SM, (eds.) Oxford Textbook of Endocrinology & Diabetes. (967 - 975). Oxford University Press: Oxford.

B

Barnett, MH and Jarman, PR and Heales, SJR and Bhatia, KP (2002) Further case of paroxysmal exercise-induced dystonia and some insights into pathogenesis. MOVEMENT DISORD , 17 (6) 1386 - 1387. 10.1002/mds.10291.

Bentley, L and Nakabayashi, K and Montamedi, Z and Preece, M and Scherer, S and Stanier, P and Moore, GE (2002) Carboxypeptidase A5: an imprinted member of the CPA gene family. In: AMERICAN JOURNAL OF HUMAN GENETICS. (pp. 486 - 486). UNIV CHICAGO PRESS

Bentley, L and Nakebayashi, K and Montameni, Z and Preece, M and Scherer, S and Stanier, P and Moore, GE (2002) Carboxypeptidase A5: an imprinted member of the CPA gene family. In: The American Journal of Human Genetics. (pp. A1851 - A1851).

Berenbaum, S and Chrousos, G and Clayton, P and Cutler, G and Keizer-Schrama, SD and Donahoe, PK and Donahoue, PA and Donaldson, M and Forest, M and Fujieda, K and Ghionizz, L and Ginalska-Malinowska, M and Grumbach, MM and Gruters, A and Hagenfeldt, K and Hintz, RL and Honour, JW and Hughes, IA and Kuhnle-Krahl, U and Lee, PA and Meyer-Bahlburg, H and Migeon, C and Miller, WL and Muller, J and New, MI and Oberfield, SE and Peter, M and Ritzen, EM and Saenger, P and Savage, MO and Schober, JM and Sippell, WG and Solyom, J and Speiser, PW and Therrell, BL and Van Wyk, JJ and Warne, GL and White, PC and Wildt, L and Witchell, S and Hindmarsh, PC and Holmes, LB and Ibanez, L and Levine, LS and Pang, SY and Wedell, A and Joint LWPES ESPE CAH Working Grp, (2002) Consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology. J CLIN ENDOCR METAB , 87 (9) 4048 - 4053. 10.1210/jc.2002-020611.

Berenbaum, S and Chrousos, G and Clayton, P and Cutler, G and Keizer-Schrama, SD and Donahoe, PK and Donohoue, PA and Donaldson, M and Forest, M and Fujieda, K and Ghizzoni, L and Ginalska-Malinowska, M and Grumbach, MM and Gruters, A and Hagenfeldt, K and Hintz, RL and Honour, JW and Hughes, IA and Kuhnle-Krahl, U and Lee, PA and Meyer-Bahlburg, H and Migeon, C and Miller, WL and Muller, J and New, MI and Oberfield, SE and Peter, M and Ritzen, EM and Saenger, P and Savage, MO and Schober, JM and Sippell, WG and Solyom, J and Speiser, PW and Therrell, BL and Van Wyk, JJ and Warne, GL and White, PC and Wildt, L and Witchell, S and Hindmarsh, PC and Holmes, LB and Ibanez, L and Levine, LS and Pang, S and Wedell, A and Joint ESPE LWPES CAH working grp, (2002) Consensus statement on 21-hydroxylase deficiency from The European Society for Paediatric Endocrinology and The Lawson Wilkins Pediatric Endocrine Society. HORM RES , 58 (4) 188 - 195.

Bitner-Glindzicz, M (2002) Hereditary deafness and phenotyping in humans. BRIT MED BULL , 63 73 - 94.

Bitner-Glindzicz, M (2002) Hereditary Deafness and Phenotyping in Humans. In: Moore, BCJ and Ashmore, J and Haggard, MP, (eds.) New developments in hearing and balance. (73 - 94).

Braybrook, C and Doudney, K and Marçano, ACB and Arnason, A and Bjornsson, A and Patton, MA and Goodfellow, PJ and Moore, GE and Stanier, P (2002) The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia. In: Genetical Research. (pp. 75 - 75).

Braybrook, C and Lisgo, S and Doudney, K and Henderson, D and Marcano, ACB and Strachan, T and Patton, MA and Villard, L and Moore, GE and Stanier, P and Lindsay, S (2002) Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPx patients. HUM MOL GENET , 11 (22) 2793 - 2804.

Brealey, D and Brand, M and Hargreaves, I and Heales, S and Land, J and Smolenski, R and Davies, NA and Cooper, CE and Singer, M (2002) Association between mitochondrial dysfunction and severity and outcome of septic shock. LANCET , 360 (9328) 219 - 223.

C

Cai, S and Alp, NJ and McDonald, D and Smith, I and Kay, J and Canevari, L and Heales, S and Channon, KM (2002) GTP cyclohydrolase I gene transfer augments intracellular tetrahydrobiopterin in human endothelial cells: effects on nitric oxide synthase activity, protein levels and dimerisation. Cardiovascular Research , 55 (4) 838 - 849.

Charmandari, E and Brook, CGD and Hindmarsh, PC (2002) Why is management of patients with classical congenital adrenal hyperplasia more difficult at puberty? ARCH DIS CHILD , 86 (4) 266 - 269.

Charmandari, E and Dattani, MT and Perry, LA and Hindmarsh, PC and Brook, CG (2002) Kinetics and effect of percutaneous administration of dihydrotestosterone in children. Hormone Research , 56 (5-6) 177 - 181.

Charmandari, E and Johnston, A and Honour, JW and Brook, CGD and Hindmarsh, PC (2002) Treatment with flutamide decreases cortisol clearance: Implications for therapy in congenital adrenal hyperplasia. J PEDIATR ENDOCR MET , 15 (4) 435 - 439.

Charmandari, E and Pincus, SM and Matthews, DR and Johnston, A and Brook, CGD and Hindmarsh, PC (2002) Oral hydrocortisone administration in children with classic 21-hydroxylase deficiency leads to more synchronous joint GH and cortisol secretion. J CLIN ENDOCR METAB , 87 (5) 2238 - 2244.

Cheema, U and Yang, S and Mudera, V and Goldspink, G and Brown, RA (2002) Mechanical loading of 3-D muscle constructs. In: Abstracts of TCES 2002 Annual meeting of the UK Tissue and Cell Engineering Society 19-20 September 2002, The University of Glasgow, Scotland. (pp. 16 - 17).
An open access publication. A version is also available from UCL Discovery.
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Chitty, L.S. and Altman, D.G. (2002) Charts of fetal size: limb bones. BJOG An International Journal of Obstetrics and Gynaecology , 109 (8) pp. 919-929. 10.1111/j.1471-0528.2002.01022.x.

Clayton, PT (2002) Inborn errors presenting with liver dysfunction. Semin Neonatol , 7 (1) 49 - 63. 10.1053/siny.2001.0086.

Clayton, PT and Verrips, A and Sistermans, E and Mann, A and Mieli-Vergani, G and Wevers, R (2002) Mutations in the sterol 27-hydoxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis. J INHERIT METAB DIS , 25 (6) 501 - 513.

Cock, HR and Tong, X and Hargreaves, IP and Heales, SJR and Clark, JB and Patsalos, PN and Thom, M and Groves, M and Schapira, AHV and Shorvon, SD and Walker, MC (2002) Mitochondrial dysfunction associated with neuronal death following status epilepticus in rat. EPILEPSY RES , 48 (3) 157 - 168.

Cordery, RJ and Hall, M and Cipolotti, L and Davidson, L and Adlard, P and Rossor, MN (2002) Early cognitive decline in Creutzfeldt-Jakob disease occurring in recipients of pituitary-derived human growth hormone. J NEUROL NEUROSUR PS , 72 (1) 133 - 133.

Cosgrove, KE and Antoine, M-H and Lee, AT and Barnes, PD and De Tullio, P and Clayton, P and McCloy, R and De Lonlay, P and Nihoul-Fékété, C and Robert, J-J and Saudubray, J-M and Rahier, J and Lindley, KJ and Hussain, K and Aynsley-Green, A and Pirotte, B and Lebrun, P and Dunne, MJ (2002) BPDZ 154 activates adenosine 5′-triphosphate-sensitive potassium channels: In vitro studies using rodent insulin-secreting cells and islets isolated from patients with hyperinsulinism. Journal of Clinical Endocrinology and Metabolism , 87 (11) 4860 - 4868.

D

Dattani, M (2002) Structural hypothalamic defects. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , 15 1423 - 1424.

Dattani, MT (2002) GH deficiency might be associated with normal height in PROP1 deficiency. Clinical Endocrinology , 57 (2) 157 - 158.

Dattani, MT (2002) GH deficiency might be associated with normal height in PROP1 deficiency. CLIN ENDOCRINOL , 57 (2) 157 - 158.

Dattani, MT and Hindmarsh, P (2002) Premature sexual maturation. In: Shalet, S and Wass, JAH, (eds.) Oxford Textbook of Endocrinology and Diabetes. (1046 - 1063). Oxford University Press

Dattani, MT and Robinson, IC (2002) HESX1 and septo-optic dysplasia. Reviews in Endocrine and Metabolic Disorders , 3 (4) 289 - 300.

Dattani, MT and Robinson, IC (2002) HESX1 and Septo-Optic Dysplasia. Rev Endocr Metab Disord , 3 (4) 289 - 300.

E

Edwards, MJJ and Hargreaves, IP and Heales, SJR and Jones, SJ and Ramachandran, V and Bhatia, KP and Sisodiya, S (2002) N-acetylcysteine and Unverricht-Lundborg disease - Variable response and possible side effects. NEUROLOGY , 59 (9) 1447 - 1449.

Eggermann, T and Zerres, K and Eggermann, K and Moore, G and Wollmann, HA (2002) Uniparental disomy: Clinical indications for testing in growth retardation. European Journal of Pediatrics , 161 (6) 305 - 312.

Eggermann, T and Zerres, K and Eggermann, K and Moore, GE and Wollmann, HA (2002) Clinical indications for uniparental disomy (UPD) testing in growth retarded patients. Eur J Paediatr , 161 305 - 312.

F

Fall, CH and Dennison, E and Cooper, C and Pringle, J and Kellingray, SD and Hindmarsh, P (2002) Does birth weight predict adult serum cortisol concentrations? Twenty-four-hour profiles in the United kingdom 1920-1930 Hertfordshire Birth Cohort. Journal of Clinical Endocrinology and Metabolism , 87 (5) 2001 - 2007.

G

Geary, JE and Verfuerth, S and Thomas, AC and Peggs, KS and Mackinnon, S (2002) Kinetics of lineage-specific chimerism following an alemtuzumab (Campath-1H) reduced intensity regimen and the effect on chimerism of donor leukocyte infusions. In: BLOOD. (pp. 398B - 399B). AMER SOC HEMATOLOGY

Gegg, M and Beltran, B and Bolanos, JP and Salas-Pino, S and Moncada, S and Clark, JB and Heales, SJR (2002) The differential effect of nitric oxide on glutathione metabolism in astrocytes and neurons. In: J NEUROCHEM. (pp. 18 - 18). BLACKWELL PUBLISHING LTD

Gegg, ME and Clark, JB and Heales, SJR (2002) Determination of glutamate-cysteine ligase (gamma- glutamylcysteine synthetase) activity by high-performance liquid chromatography and electrochemical detection. Analytical Biochemistry , 304 (1) 26 - 32.

Gegg, ME and Clark, JB and Heales, SJR (2002) Determination of glutamate-cysteine ligase (gamma-glutamylcysteine synthetase) activity by high-performance liquid chromatography and electrochemical detection. ANAL BIOCHEM , 304 (1) 26 - 32. 10.1006/abio.2001.5607.

H

Hargreaves, IP and Heales, S (2002) Statins and myopathy. The Lancet , 359 (9307) 711 - 712.

Hargreaves, IP and Heales, SJR and Briddon, A and Land, JM and Lee, PJ (2002) Blood mononuclear cell coenzyme Q(10) concentration and mitochondrial respiratory chain succinate cytochrome-c reductase activity in phenylketonuric patients. J INHERIT METAB DIS , 25 (8) 673 - 679.

Hargreaves, IP and Rahman, S and Guthrie, P and Taanman, JW and Leonard, JV and Land, JM and Heales, SJR (2002) Diagnostic value of succinate ubiquinone reductase activity in the identification of patients with mitochondrial DNA depletion. J INHERIT METAB DIS , 25 (1) 7 - 16.

Heales, SJR and Bolanos, JP (2002) Impairment of brain mitochondrial function by reactive nitrogen species: the role of glutathione in dictating susceptibility. NEUROCHEM INT , 40 (6) 469 - 474.

Heales, SJR and Gegg, ME and Clark, JB (2002) Oxidative phosphorylation: Structure, function, and intermediary metabolism. INT REV NEUROBIOL , 53 25 - 56.

Heales, SJR and Gegg, ME and Clark, JB (2002) Oxidative phosphorylation: structure, function, and intermediary metabolism. International Review of Neurobiology , 53 25 - 56.

Heales, SJR and Stewart, VC and Lam, AJ and Stone, R and Clark, JB (2002) Astrocyte derived nitric oxide and the neurodegenerative process. The role of glutathione and tetrahydrobiopterin. J NEUROCHEM , 81 18 - 18.

Hindmarsh, P (2002) Commentary: Exogenous glucocorticoids influence adrenal function, but assessment can be difficult. BMJ (Clinical Research Ed.) , 324 (7345) 1083 - ?.

Hindmarsh, PC (2002) Optimisation of thyroxine dose in congenital hypothyroidism. ARCH DIS CHILD , 86 (2) 73 - 75.

Hindmarsh, PC (2002) The European Training Syllabus in Paediatric Endocrinology and Diabetes. Hormone Research , 56 (5-6) 188 - 204.

Hindmarsh, PC and Geary, MP and Rodeck, CH and Kingdom, JCP and Cole, TJ (2002) Intrauterine growth and its relationship to shape at birth. Pediatric Research , 52 263 - 268.

Hindmarsh, PC and Geary, MPP and Rodeck, CH and Kingdom, JCP and Cole, TJ (2002) Intrauterine growth and its relationship to size and shape at birth. PEDIATR RES , 52 (2) ? - ?. 10.1023/01.PDR.0000020600.45753.78.

Hitchins, MP and Abu-Amero, S and Apostolidou, S and Monk, D and Stanier, P and Preece, MA and Moore, GE (2002) Investigation of the GRB2, GRB7, and CSH1 genes as candidates for the Silver-Russell syndrome (SRS) on chromosome 17q. J Med Genet , 39 (3) E13 - ?.

Hitchins, MP and Abu-Amero, S and Apostolidou, S and Monk, D and Stanier, P and Preece, MA and Moore, GE (2002) Investigation of the GRB2, GRB7, and CSH1 genes as candidates for the Silver-Russell syndrome (SRS) on chromosome 17q. Journal of medical genetics , 39 (3)

Hitchins, MP and Bentley, L and Monk, D and Beechey, C and Peters, J and Kelsey, G and Ishino, F and Preece, MA and Stanier, P and Moore, GE (2002) DDC and COBL, flanking the imprinted GRB10 gene on 7p12, are biallelically expressed. MAMM GENOME , 13 (12) 686 - 691. 10.1007/s00335-002-3028-z.

Hitchins, MP and Moore, GE (2002) Genomic imprinting in fetal growth and development. Expert Rev Mol Med , 4 (11) 1 - 19. 10.1017/S146239940200457X.

Hodgkinson, CA and Bohlega, SA and Abu-Amero, SN and Cupler, EJ and Kambouris, M and Meyer, BFB and V, A (2002) A novel form of autosomal recessive pure hereditary spastic paraplegia maps to chromosome 13q14. Neurology , 59 (12) 1905 - 1909.

Hussain, K and Cosgrove, KE and Sheapherd, RM and Chapman, JC and Swift, SM and Smith, VV and Kassem, SA and Glaser, B and Lindley, KJ and Aynsley-Green, A and Dunne, M (2002) Uncontrolled insulin secretion from a childhood pancreatic b-cell adenoma is not due to functional loss of ATP-sensitive potassium channels. Endocrine-Related Cancer , 9 (4) 221 - 226.

Hussain, K and Cosgrove, KE and Shepherd, RM and Chapman, JC and Swift, SM and Smith, VV and Kassem, SA and Glaser, B and Lindley, KJ and Aynsley-Green, A and Dunne, MJ (2002) Uncontrolled insulin secretion from a childhood pancreatic β-cell adenoma is not due to the functional loss of ATP-sensitive potassium channels. Endocrine-Related Cancer , 9 (4) 221 - 226.

Hussain, K and Mundy, H and Aynsley-Green, A and Champion, M (2002) A child presenting with disordered consciousness, hallucinations, screaming episodes and abdominal pain. European Journal of Pediatrics , 161 (2) 127 - 129.

I

Imber, CJ and St Peter, SD and de Cenarruzabeitia, IL and Lemonde, H and Rees, M and Butler, A and Clayton, PT and Friend, PJ (2002) Optimisation of bile production during normothermic preservation of porcine livers. AM J TRANSPLANT , 2 (7) 593 - 599.

J

Jackson, MJ and Papa, S and Bolanos, J and Bruckdorfer, R and Carlsen, H and Elliott, RM and Flier, J and Griffiths, HR and Heales, S and Holst, B and Lorusso, M and Lund, E and Oivind, MJ and Moser, U and Di Paola, M and Polidori, MC and Signorile, A and Stahl, W and Vina-Ribes, J and Astley, SB (2002) Antioxidants, reactive oxygen and nitrogen species, gene induction and mitochondrial function. Molecular Aspects of Medicine , 23 (1-3) 209 - 285.

Jacobson, J and Duchen, MR and Heales, SJR (2002) Intracellular distribution of the fluorescent dye nonyl acridine orange responds to the mitochondrial membrane potential: implications for assays of cardiolipin and mitochondrial mass. J NEUROCHEM , 82 (2) 224 - 233.

Johnson, CA and Morgan, NV and Gissen, P and Sharif, SM and Baumber, L and Sutherland, J and Kelly, DA and Aminu, K and Bennett, CP and Woods, CG and Mueller, RF and Trembath, RC and Maher, ER (2002) A novel locus for Meckel-Gruber syndrome MKS3, maps to chromosome 8q24. In: AMERICAN JOURNAL OF HUMAN GENETICS. (pp. 282 - 282). UNIV CHICAGO PRESS

K

Karavanaki, K and Divoli, A and Dattani, M and Briassoulis, G and Theodorou, V and Hatzara, V and Avlonitis, S (2002) Multiple pituitary hormone abnormalities, fever, behavioral problems, seizures and apnoic spells in a 6-year old girl. Hormones (Athens) , 1 (2) 121 - 125.

M

Mantovani, G and Ozisik, G and Achermann, JC and Romoli, R and Borretta, G and Persani, L and Spada, A and Jameson, JL and Beck-Peccoz, P (2002) Clinical case seminar - Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita. J CLIN ENDOCR METAB , 87 (1) 44 - 48.

Mehta, A and Hindmarsh, PC (2002) The use of somatropin (recombinant growth hormone) in children of short stature. Paediatr Drugs , 4 (1) 37 - 47.

Mills, K and Johnson, A and Winchester, B (2002) Synthesis of novel internal standards for the quantitative determination of plasma ceramide trihexoside in Fabry disease by tandem mass spectrometry. FEBS LETT , 515 (1-3) 171 - 176.

Mongan, NP and Jaaskelainen, J and Green, K and Schwabe, JW and Shimura, N and Dattani, M and Hughes, IA (2002) Two de novo mutations in the AR gene cause the complete androgen insensitivity syndrome in a pair of monozygotic twins. J CLIN ENDOCR METAB , 87 (3) 1057 - 1061.

Monk, D and Bentley, L and Beechey, C and Hitchins, M and Peters, J and Preece, MA and Stanier, P and Moore, GE (2002) Characterisation of the growth regulating gene IMP3, a candidate for Silver-Russell syndrome. J MED GENET , 39 (8) 575 - 581.

Monk, D and Bentley, L and Hitchens, M and Myler, RA and Clayton-Smith, J and Ismail, S and Price, SM and Preece, MA and Stanier, P and Moore, GE (2002) Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region. HUM GENET , 111 (4-5) 376 - 387. 10.1007/s00439-002-0777-4.

Morgan, NV and Gissen, P and Malik-Sharif, S and Bennett, CP and Woods, CG and Trembath, RC and Maher, ER and Johnson, CA (2002) A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24. In: JOURNAL OF MEDICAL GENETICS. (pp. S69 - S69). BRITISH MED JOURNAL PUBL GROUP

Morgan, NV and Gissen, P and Sharif, SM and Baumber, L and Sutherland, J and Kelly, DA and Aminu, K and Bennett, CP and Woods, CG and Mueller, RF and Trembath, RC and Maher, ER and Johnson, CA (2002) A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24. HUM GENET , 111 (4-5) 456 - 461. 10.1007/s00439-002-0817-0.

N

Nakabayashi, K and Bentley, L and Hitchins, MP and Mitsuya, K and Meguro, M and Minagawa, S and Bamforth, JS and Stanier, P and Preece, M and Weksberg, R and Oshimura, M and Moore, GE and Scherer, SW (2002) Identification and characterization of an imprinted antisense RNA (MESTIT1) in the human MEST locus on chromosome 7q32. HUM MOL GENET , 11 (15) 1743 - 1756.

Nakabayashi, K and Minagawa, S and Bentley, L and He, L and Kapur, R and Smith, AC and Bamforth, JS and Oshimura, M and Weksberg, R and Moore, GE and Scherer, SW (2002) Chromosome-wide discovery of imprinted and differentially expressed genes for disease study. In: AMERICAN JOURNAL OF HUMAN GENETICS. (pp. 404 - 404).

Nandi, M and Miller, A and Canevari, L and Haworth, SG and Heales, S and Vallance, P (2002) Tetrahydrobiopterin deficient mouse (HPH-1) dispalys pulmonary hypertensive phenotype. In: Br J Pharmacol.

O

Olpin, S and Afifi, A and Clark, S and Bonham, J and Dalton, A and Leonard, J and Land, J and Rahman, S and Morris, A and Turnbull, D and Pourfarzam, M (2002) Mutation and biochemical analysis in carnitine palmitoyl transferase type II (CPTII) deficiency suggests complex genotype/phenotype interactions. In: Journal of Inherited Metabolic Disease. (pp. 78 - ?).

Ozisik, G and Achermann, JC and Jameson, JL (2002) The role of SF1 in adrenal and reproductive function: insight from naturally occurring mutations in humans. MOL GENET METAB , 76 (2) 85 - 91.

Ozisik, G and Achermann, JC and Meeks, JJ and Jameson, JL (2002) DAX1 and SF1 mutations provide insight into sexual differentiation. In: Rommerts, FFG and Teerds, KJ, (eds.) UNSPECIFIED (151 - 171). SPRINGER-VERLAG BERLIN

P

Peña, JA and Calderon, R and Perez-Miranda, A and Vidales, C and Dugoujon, JM and Carrion, M and Crouau-Roy, B (2002) Microsatellite DNA markers from HLA region (D6S105, D6S265 and TNFa) in autochthonous Basques from Northern Navarre (Spain). Annals of Human Biology , 29 (2) 176 - 191.

Pope, SAS and Burtin, GE and Clayton, PT and Madge, DJ and Muller, DPR (2002) Synthesis and analysis of conjugates of the major vitamin E metabolite, alpha-CEHC. FREE RADICAL BIO MED , 33 (6) 807 - 817.

Price, J and Hindmarsh, P and Hughes, S and Efthimiou, J (2002) Evaluating the effects of asthma therapy on childhood growth: what can be learnt from the published literature? European Respiratory Journal , 19 (6) 1179 - 1193.

R

Rahman, S and Chong, WK and Leonard, JV and Brown, RM and Brown, GK (2002) MRI in Leigh syndrome with SURF1 gene mutation - Reply. ANNALS OF NEUROLOGY , 51 (1) 139 - 139. 10.1002/ana.10030.

Rahman, S and Liolitsa, D and Benton, S and Carr, L and Hanna, M (2002) Two new mitochondrial ND5 gene mutations associate with MELAS without ragged red fibres: Is ND5 a hotspot for MELAS-causing mutations? In: Journal of Inherited Metabolic Disease. (pp. 80 - ?).

Rahman, S and Taanman, J and Harding, B and Morris, A (2002) Alpers syndrome with mitochondrial DNA depletion. In: Journal of Inherited Metabolic Disease. (pp. 85 - ?).

Rahman, S and Taanman, J and Harding, B and Morris, A (2002) Alpers syndrome with mitochondrial DNA depletion. In: Clinical Science (London). (pp. 51P - ?).

Rahman, S and Wolf, N and Zschocke, J and Clayton, P (2002) Mitochondrial HMG-CoA synthase deficiency: Two further cases. In: Journal of Inherited Metabolic Disease. (pp. 55 - ?).

Ramanan, AV and Gissen, P and Bose-Haider, B (2002) Intentional overdose of warfarin in an adolescent: need for follow up. EMERG MED J , 19 (1) 90 - 90.

Rogner, UC and Danoy, P and Matsuda, F and Moore, GE and Stanier, P and Avner, P (2002) SNPs in the CpG island of NAP1L2: A possible link between DNA methylation and neural tube defects? AM J MED GENET , 110 (3) 208 - 214. 10.1002/ajmg.10453.

S

Salvi, R and Gomez, F and Fiaux, M and Schorderet, D and Jameson, JL and Achermann, JC and Gaillard, RC and Pralong, FP (2002) Progressive onset of adrenal insufficiency and hypogonadism of pituitary origin caused by a complex genetic rearrangement within DAX-1. J CLIN ENDOCR METAB , 87 (9) 4094 - 4100. 10.1210/jc.2001-011930.

Schultz, CJ and Amin, R and Dunger, DB (2002) Markers of microvascular complications in insulin dependent diabetes. Arch Dis Child , 87 (1) 10 - 12.

Shears, D and Conlon, H and Murakami, T and Fukai, K and Bitner-Glindzicz, M (2002) Pigmentary abnormalities, Piebaldism and Pendred syndrome complexity in hereditary hearing loss. In: Journal of Medical Genetics. (pp. 167 - ?).

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This list was generated on Wed Jun 19 05:00:34 2013 BST.