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Number of items: 78.

A

Achermann, JC; (2004) Do testosterone and GH have synergistic effects on metabolism during puberty? International Growth Monitor , 14 (2) 4 - 6.

Achermann, JC; (2004) The Orphan Nuclear Receptor Superfamily: key targets for environmental modulation? Highlights , 12 (1) 9 - 11.

Achermann, JC; (2004) Delayed Puberty. In: Eugster, EA and Pescovitz, OR, (eds.) Paediatric Endocrinology: Mechanisms, Manifestations & Management. (334 - 348). Lippincott,Williams and Wilkins: Philadelphia.

Achermann, JC; Jameson, JL; (2004) Disorders of Sexual Differentiation. In: Kasper, DL and Braunwald, E and Fauci, AS and Hauser, SL and Longo, DL and Jameson, JL, (eds.) Harrison's Principles of Internal Medicine. (2214 - 2220). McGraw-Hill: New York.

Alexander, SD; Hindmarsh, P; (2004) The evaluation and management of tall stature. Current Paediatrics , 14 389 - 474.

Arnaud, P; Monk, D; Hitchins, M; Gordon, E; Dean, W; Beechey, CV; ... Kelsey, G; + view all (2004) Conserved methylation imprints in the human and mouse GRB10 genes with divergent allelic expression suggests differential reading of the same mark. In: GENETICAL RESEARCH. (pp. 117 - 117). CAMBRIDGE UNIV PRESS

Assmann, BE; Robinson, RO; Surtees, RA; Brautigam, C; Heales, SJ; Wevers, RA; ... Hoffmann, GF; + view all (2004) Infantile Parkinsonism-dystonia and elevated dopamine metabolites in CSF. Neurology , 62 (10) 1872 - 1874.

Assmann, BE; Robinson, RO; Surtees, RAH; Brautigam, C; Heales, SJR; Wevers, RA; ... Hoffmann, GF; + view all (2004) Infantile parkinsonism-dystonia and elevated dopamine metabolites in CSF. NEUROLOGY , 62 (10) 1872 - 1874.

B

Bannerjee, I; Achermann, JC; (2004) Highlights of the 43nd Meeting of the European Society for Paediatric Endocrinology (ESPE). Highlights , 12 (5) 4 - 26.

Bitner-Glindzicz, M; (2004) Genetic Hearing Loss Associated with Renal Disorders. In: Toriello, HV and Reardon, W and Gorlin, RJ, (eds.) Hereditary hearing loss and its syndromes. (267 - 289). Oxford University Press, USA

C

Charmandari, E; Brook, CGD; Hindmarsh, PC; (2004) Classic congenital adrenal hyperplasia and puberty. EUR J ENDOCRINOL , 151 U77 - U82.

Chow, SL; Gandhi, V; Krywawych, S; Clayton, PT; Leonard, JV; Morris, AA; (2004) The significance of a high plasma ammonia value. Arch Dis Child , 89 (6) 585 - 586.

Cole, TJ; Hindmarsh, PC; Dunger, DB; (2004) Growth hormone (GH) provocation tests and the response to GH treatment in GH deficiency. ARCH DIS CHILD , 89 (11) 1024 - 1027. 10.1136/adc.2003.043406. Green open access
file

Cooley, SM; Donnelly, JC; Geary, MP; Rodeck, CH; Hindmarsh, PC; (2004) Maternal and fetal insulin-like growth factors 1 and 2 (IGF-1, IGF-2) and IGF BP-3, and their relationship to fetal acidosis at delivery. J PERINAT MED , 32 (5) 418 - 421. 10.1515/JPM.2004.139.

D

Dattani, M; Preece, M; (2004) Growth hormone deficiency and related disorders: insights into causation, diagnosis, and treatment. LANCET , 363 (9425) 1977 - 1987.

Dattani, MT; (2004) Novel insights into the aetiology and pathogenesis of hypopituitarism. HORMONE RESEARCH , 62 1 - 13. 10.1159/000080493.

Dattani, MT; (2004) Novel insights into the aetiology and pathogenesis of hypopituitarism. Hormone research , 62 Suppl 3 1 - 13.

E

Evans, AH; Costa, DC; Gacinovic, S; Katzenschlager, R; O'Sullivan, JD; Heales, S; ... Lees, AJ; + view all (2004) L-Dopa-responsive Parkinson's syndrome in association with phenylketonuria: In vivo dopamine transporter and D2 receptor findings. MOVEMENT DISORD , 19 (10) 1232 - 1236. 10.1002/mds.20146.

G

Gissen, P; Johnson, CA; Morgan, NV; McKiernan, PJ; Kelly, DA; Maher, ER; (2004) Mutations in the VPS33B gene, encoding a regulator of SNARE-dependant membrane fusion, cause ARC syndrome. In: JOURNAL OF MEDICAL GENETICS. (pp. S14 - S14). B M J PUBLISHING GROUP

Gissen, P; Johnson, CA; Morgan, NV; Stapelbroek, JM; Forshew, T; Cooper, WN; ... Maher, ER; + view all (2004) Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. NAT GENET , 36 (4) 400 - 404. 10.1038/ng1325.

Gissen, P; Kelly, D; (2004) New hope for treatment of neonatal haemochromatosis. LANCET , 364 (9446) 1644 - 1645.

H

Heales, S; Crawley, F; Rudge, P; (2004) Reversible parkinsonism following heroin pyrolysate inhalation is associated with tetrahydrobiopterin deficiency. Mov Disord , 19 (10) 1248 - 1251. 10.1002/mds.20158.

Heales, SJ; Lam, AA; Duncan, AJ; Land, JM; (2004) Neurodegeneration or neuroprotection: the pivotal role of astrocytes. Neurochem Res , 29 (3) 513 - 519.

Heales, SJR; (2004) Differential susceptibility of astrocytes and neurons to oxidative stress. In: FREE RADICAL BIOLOGY AND MEDICINE. (pp. S16 - S17). PERGAMON-ELSEVIER SCIENCE LTD

Heales, SJR; Lam, AAJ; Duncan, AJ; Land, JM; (2004) Neurodegeneration or neuroprotection: The pivotal role of astrocytes. NEUROCHEM RES , 29 (3) 513 - 519.

Hindmarsh, PC; (2004) Commentary: Catch-up growth in humans - a comment on poverty, birthweight, and infant weight gain in Hertfordshire. INT J EPIDEMIOL , 33 (6) 1234 - 1235. 10.1093/ije/dyh271.

Hindmarsh, PC; (2004) Standard and low-dose IGF-1 generation tests and spontaneous growth hormone secretion in children with idiopathic short stature. CLIN ENDOCRINOL , 60 (2) 161 - 162. 10.1046/j.1365-2265.2003.01958.x.

Hindmarsh, PC; Cole, TJ; (2004) Height monitoring as a diagnostic test. ARCH DIS CHILD , 89 (4) 296 - 297. 10.1136/adc.2003.039560.

Hitchins, MP; Rickard, S; Dhalla, F; de Vries, BB; Winter, R; Pembrey, ME; Malcolm, S; (2004) Investigation of UBE3A and MECP2 in Angelman syndrome (AS) and patients with features of AS. American Journal of Medical Genetics Part A , 125A (2) 167 - 172.

Hussain, K; Aynsley-Green, A; (2004) Hyperinsulinaemic hypoglycaemia in infancy and childhood - Resolving the enigma. J PEDIATR ENDOCR MET , 17 (10) 1375 - 1384.

Hussain, K; Aynsley-Green, A; (2004) Hyperinsulinaemic hypoglycaemia in preterm neonates. ARCH DIS CHILD , 89 (1) F65 - F67.

Hussain, K; Aynsley-Green, A; (2004) The Effect of Prematurity and Intrauterine Growth Restriction on Glucose Metabolism. Neoreviews , 5 365 - 369.

Hussain, K; Aynsley-Green, A; Stanley, CA; (2004) Medications used in the treatment of hypoglycemia due to congenital hyperinsulinism of infancy (HI). Pediatr Endocrinol Rev , 2 Suppl 1 163 - 167.

Hussain, K; Bitner-Glindzicz, M; Blaydon, D; Lindley, KJ; Thompson, DA; Kriss, T; ... Aynsley-Green, A; + view all (2004) Infantile hyperinsulinism associated with enteropathy, deafness and renal tubulopathy: Clinical manifestations of a syndrome caused by a contiguous gene deletion located on chromosome 11p. J PEDIATR ENDOCR MET , 17 (12) 1613 - 1621.

Hussain, K; Bodamer, OA; Cameron, FJ; Camacho-Hubner, C; Soos, MA; Jones, J; ... Aynsley-Green, A; + view all (2004) Hypoketotic hypofattyacidaemic hypoinsulinaemic hypoglycaemia in a child with hemihypertrophy? A new syndrome. Horm Res , 61 (5) 222 - 227. 10.1159/000076553.

Hussain, K; Hindmarsh, P; (2004) Cortisol and growth hormone responses to spontaneous hypoglycaemia in infants and children (letter). ARCH DIS CHILD , 89 (5) 472 - 478.

Hussain, K; Thornton, PS; Otonkoski, T; Aynsley-Green, A; (2004) Severe transient neonatal hyperinsulinism associated with hyperlactataemia in non-asphyxiated infants. J PEDIATR ENDOCR MET , 17 (2) 203 - 209.

I

Ibanez, L; Ferrer, A; Ong, K; Amin, R; Dunger, D; De Zegher, F; (2004) Insulin sensitization early after menarche prevents progression from precocious pubarche to polycystic ovary syndrome. JOURNAL OF PEDIATRICS , 144 (1) 23 - 29. 10.1016/j.jpeds.2003.08.015.

J

Jenkins, D; Feather, SA; Bitner-Glindzicz, M; Akil, I; Woolf, AS; (2004) "Toward a genetic basis for posterior urethral valves". In: The Renal Association - Spring Meeting - 1-2 April 2004, Aberdeen Exhibition and Conference Centre (AECC), Aberdeen, Scotland. (pp. 33 - ?).

Jenkins, D; Hu, CC; Allison, J; Gullett, AM; Winyard, PJ; Malcolm, S; ... Woolf, AS; + view all (2004) "De novo mutations in UPIIIA cause severe bilateral renal dysplasia". In: Journal of the American Society of Nephrology. (pp. 33A - ?).

Joffe, TH; Cole, TJ; Wells, JCK; Geary, MP; Rodeck, CH; Hindmarsh, PC; (2004) A new method for quantifying encephalization in the growing individual. JOURNAL OF THEORETICAL BIOLOGY , 225 (3) 361 - 367.

K

Kinali, M; Olpin, SE; Clayton, PT; Daubeney, PEF; Mercuri, E; Manzur, AY; ... Muntoni, F; + view all (2004) Diagnostic difficulties in a case of primary systemic carnitine deficiency with idiopathic dilated cardiomyopathy. EUR J PAEDIATR NEURO , 8 (4) 217 - 219. 10.1016/j.ejpn.2004.03.007.

L

Land, JM; Morgan-Hughes, JA; Hargreaves, I; Heales, SJR; (2004) Mitochondrial disease: A historical, biochemical, and London perspective. NEUROCHEM RES , 29 (3) 483 - 491.

Lin, L; Achermann, JC; (2004) Inherited adrenal hypoplasia: not just for kids! CLIN ENDOCRINOL , 60 (5) 529 - 537. 10.1111/j.1365-2265.2004.01988.x.

Lin, L; Achermann, JC; (2004) The adrenal. HORMONE RESEARCH , 62 22 - 29. 10.1159/000080495.

Lin, L; Woodruff, TK; Achermann, JC; (2004) Gonadotropins, Gonads: Physiology & Disease. In: Carel, JC and Hochberg, Z, (eds.) Yearbook of pediatric endocrinology 2004. (143 - 156). Elsevier: Paris.

M

Marcano, ACB; Doudney, K; Braybrook, C; Squires, R; Patton, MA; Lees, MM; ... Stanier, P; + view all (2004) TBX22 mutations are a frequent cause of cleft palate. J MED GENET , 41 (1) 68 - 74. 10.1136/jmg.2003.010868.

Martins, LM; Morrison, A; Klupsch, K; Fedele, V; Moisoi, N; Teismann, P; ... Downward, J; + view all (2004) Neuroprotective role of the Reaper-related serine protease HtrA2/Omi revealed by targeted deletion in mice. Molecular and Cellular Biology , 24 (22) 9848 - 9862.

Martins, LM; Morrison, A; Klupsch, K; Fedele, V; Moisoi, N; Teismann, P; ... Downward, J; + view all (2004) Neuroprotective role of the reaper-related serine protease HtrA2/Omi revealed by targeted deletion in mice. MOL CELL BIOL , 24 (22) 9848 - 9862. 10.1128/MCB.24.22.9848-9862.2004.

Mazzoli, M; Newton, V; Murgia, A; Bitner-Glindzicz, M; Gasparini, P; Read, A; Parving, A; (2004) Guidelines and recommendations for testing of Cx26 mutations and interpretation of results. INT J PEDIATR OTORHI , 68 (11) 1397 - 1398. 10.1016/j.ijporl.2004.05.011.

Mehta, A; Viner, R; Dattani, MT; Christie, D; Newson, T; (2004) An unusual case of an atypical eating disorder masquerading as a serious multi-systemic illness. Acta Paediatrica, International Journal of Paediatrics , 93 (5) 714 - 716. 10.1080/08035250410025005.

Metherell, LA; Savage, MO; Dattani, M; Walker, J; Clayton, PE; Farooqi, IS; Clark, AJ; (2004) Absence of TPIT (Tbx19) gene mutations in most patients with isolated ACTH deficiency. European Journal of Endocrinology , 151 (4) 463 - 465.

Metherell, LA; Savage, MO; Dattani, M; Walker, J; Clayton, PE; Farooqi, IS; Clark, AJL; (2004) TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency. EUR J ENDOCRINOL , 151 (4) 463 - 465.

Mills, K; Vellodi, A; Morris, P; Cooper, D; Morris, M; Young, E; Winchester, B; (2004) Monitoring the clinical and biochemical response to enzyme replacement therapy in three children with Fabry disease. EUR J PEDIATR , 163 (10) 595 - 603. 10.1007/s00431-004-1484-z.

Monk, D; Moore, GE; (2004) Intrauterine growth restriction--genetic causes and consequences. Semin Fetal Neonatal Med , 9 (5) 371 - 378. 10.1016/j.siny.2004.03.002.

Murrell, A; Heeson, S; Cooper, WN; Douglas, E; Apostolidou, S; Moore, GE; ... Reik, W; + view all (2004) An association between variants in the IGF2 gene and Beckwith-Wiedemann syndrome: interaction between genotype and epigenotype. HUM MOL GENET , 13 (2) 247 - 255. 10.1093/hmg/ddh013.

Murrell, A; Heeson, S; Douglas, E; Reik, W; Cooper, WN; Maher, ER; ... Moore, GE; + view all (2004) An association between variants in the IGF2 gene and Beckwith-Wiedemann syndrome: Interaction between genotype and epigenotype. Human Molecular Genetics , 13 (2) 247 - 255. 10.1093/hmg/ddh013.

N

Nakabayashi, K; Makino, S; Minagawa, S; Smith, AC; Bamforth, JS; Stanier, P; ... Scherer, SW; + view all (2004) Genomic imprinting of PPP1R9A encoding neurabin I in skeletal muscle and extra-embryonic tissues. J MED GENET , 41 (8) 601 - 608. 10.1136/jmg.2003.014142.

O

Ong, KK; Petry, CJ; Barratt, BJ; Ring, S; Cordell, HJ; Wingate, DL; ... Dunger, DB; + view all (2004) Maternal-fetal interactions and birth order influence insulin variable number of tandem repeats allele class associations with head size at birth and childhood weight gain. Diabetes , 53 (4) 1128 - 1133.

P

Pagnamenta, A; Clayton, P; Rahman, S; (2004) Is a novel nucleotide change in ND3 pathogenic? In: BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS. (pp. 81 - 81).

Pembrey, M; (2004) Genetic epidemiology: some special contributions of birth cohorts. PAEDIATR PERINAT EPIDEMIOL , 18 (1) 3 - 7.

Pembrey, M; (2004) The Avon Longitudinal Study of Parents and Children (ALSPAC): a resource for genetic epidemiology. EUR J ENDOCRINOL , 151 Suppl 3 U125 - U129.

Perez-Miranda, AM; Alfonso-Sanchez, MA; Vidales, MC; Calderon, R; Pena, JA; (2004) Genetic polymorphism and linkage disequilibrium of the HLA-DP region in Basques from Navarre (Spain). TISSUE ANTIGENS , 64 (3) 264 - 275. 10.1111/j.1399-0039.2004.00284.x.

Pons, R; Ford, B; Chiriboga, CA; Clayton, PT; Hinton, V; Hyland, K; ... De Vivo, DC; + view all (2004) Aromatic L-amino acid decarboxylase deficiency - Clinical features, treatment, and prognosis. NEUROLOGY , 62 (7) 1058 - 1065.

R

Richardson, CC; Jones, P; Persaud, S; Hussain, K; Clark, A; Christie, MR; (2004) Sequential expression of elements of beta cell stimulus-secretion coupling follows islet hormone expression in human fetal life. In: DIABETOLOGIA. (pp. A52 - A52). SPRINGER

S

Saukkonen, T; Amin, R; Williams, RM; Fox, C; Yuen, KC; White, MA; ... Dunger, DB; + view all (2004) Dose-dependent effects of recombinant human insulin-like growth factor (IGF)-I/IGF binding protein-3 complex on overnight growth hormone secretion and insulin sensitivity in type 1 diabetes. J Clin Endocrinol Metab , 89 (9) 4634 - 4641. 10.1210/jc.2004-0243.

Schollen, E; Frank, CG; Keldermans, L; Reyntjens, R; Grubenmann, CE; Clayton, PT; ... Matthijs, G; + view all (2004) Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency). J MED GENET , 41 (7) 550 - 556. 10.1136/jmg.2003.016923.

Shears, D; Conlon, H; Murakami, T; Fukai, K; Alles, R; Trembath, R; Bitner-Glindzicz, M; (2004) Molecular heterogeneity in two families with auditory pigmentary syndromes: the role of neuroimaging and genetic analysis in deafness. Clin Genet , 65 (5) 384 - 389. 10.1111/j.0009-9163.2004.00235.x.

Shears, DJ; Offiah, A; Rutland, P; Sirimanna, T; Bitner-Glindzicz, M; Hall, C; (2004) Kantaputra mesomelic dysplasia: A second reported family. AM J MED GENET A , 128A (1) 6 - 11. 10.1002/ajmg.a.20640.

Stanier, P; Moore, GE; (2004) Genetics of cleft lip and palate: syndromic genes contribute to the incidence of non-syndromic clefts. HUM MOL GENET , 13 R73 - R81. 10.1093/hmg/ddh052.

Storr, HL; Mitchell, H; Swords, FM; Main, KM; Hindmarsh, PC; Betts, PR; ... Savage, MO; + view all (2004) Clinical features, diagnosis, treatment and molecular studies in paediatric Cushing's syndrome due to primary nodular adrenocortical hyperplasia. CLIN ENDOCRINOL , 61 (5) 553 - 559. 10.1111/j.1365-2265.2004.02124.x.

T

Taanman, JW; Orth, M; Williams, S; Oluwole, I; Rahman, S; Clayton, P; Leonard, J; (2004) Respiratory chain enzyme deficiency expressed during muscle development. In: BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS. (pp. 38 - 38). ELSEVIER SCIENCE BV

Tiranti, V; D'Adamo, P; Briem, E; Ferrari, G; Mineri, R; Lamantea, E; ... Zeviani, M; + view all (2004) Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. Am J Hum Genet , 74 (2) 239 - 252. 10.1086/381653.

Tornovsky, S; Lavie, J; Heyman, M; Nesher, Y; Kuchinski, N; Ben-Shushan, E; ... Eliakim, A; + view all (2004) Hyperinsulinism of infancy: Novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity. Journal of Clinical Endocrinology and Metabolism , 89 (12) 6224 - 6234. 10.1210/jc.2004-1233.

W

Witsch-Baumgartner, M; Gruber, M; Kraft, HG; Utermann, G; Rossi, M; Clayton, P; ... Krajewska-Walasek, M; + view all (2004) Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome. Journal of Medical Genetics , 41 (8) 577 - 584.

Wittenstein, B; Rogers, V; Novelli, V; Clayton, PT; Kenny, MB; Peters, MJ; (2004) "African medicine" and Reye's syndrome. Lancet , 363 (9412) 860 - ?. 10.1016/S0140-6736(04)15733-4.

Z

Zeng, BY; Heales, SJR; Canevari, L; Rose, S; Jenner, P; (2004) Alterations in expression of dopamine receptors and neuropeptides in the striatum of GTP cyclohydrolase-deficient mice. EXP NEUROL , 190 (2) 515 - 524. 10.1016/j.expneurol.2004.08.022.

Zeviani, M; Tiranti, V; Briem, E; Ferrari, G; Mineri, R; Lamantea, E; ... Garavaglia, B; + view all (2004) Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. In: NEUROLOGY. (pp. A22 - A22).

This list was generated on Sun Apr 20 06:00:06 2014 BST.