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Number of items: 87.

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

Aperghis, M and Johnson, IP and Cannon, J and Yang, SY and Goldspink, G (2004) Different levels of neuroprotection by two insulin-like growth factor-I splice variants. BRAIN RES , 1009 (1-2) 213 - 218. 10.1016/j.brainres.2004.02.049.

Arnaud, P and Monk, D and Hitchins, M and Gordon, E and Dean, W and Beechey, CV and Peters, J and Craigen, W and Preece, M and Stanier, P and Moore, GE and Kelsey, G (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 and Robinson, RO and Surtees, RA and Brautigam, C and Heales, SJ and Wevers, RA and Zschocke, J and Hyland, K and Sharma, R and Hoffmann, GF (2004) Infantile Parkinsonism-dystonia and elevated dopamine metabolites in CSF. Neurology , 62 (10) 1872 - 1874.

Assmann, BE and Robinson, RO and Surtees, RAH and Brautigam, C and Heales, SJR and Wevers, RA and Zschocke, J and Hyland, K and Sharma, R and Hoffmann, GF (2004) Infantile parkinsonism-dystonia and elevated dopamine metabolites in CSF. NEUROLOGY , 62 (10) 1872 - 1874.

B

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

Barenco, M and Arrowsmith, DK (2004) The autocorrelation of double intermittency maps and the simulation of computer packet traffic. DYNAM SYST , 19 (1) 61 - 74. 10.1080/14689360310001649405.

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

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

Cole, TJ and Hindmarsh, PC and 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.
An open access version is available from UCL Discovery
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Cooley, SM and Donnelly, JC and Geary, MP and Rodeck, CH and 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 and 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 and Costa, DC and Gacinovic, S and Katzenschlager, R and O'Sullivan, JD and Heales, S and Lee, P and Lees, AJ (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 and Johnson, CA and Morgan, NV and McKiernan, PJ and Kelly, DA and 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 and Johnson, CA and Morgan, NV and Stapelbroek, JM and Forshew, T and Cooper, WN and McKiernan, PJ and Klomp, LWJ and Morris, AAM and Wraith, JE and McClean, P and Lynch, SA and Thompson, RJ and Lo, B and Quarrell, OW and Di Rocco, M and Trembath, RC and Mandel, H and Wali, S and Karet, FE and Knisely, AS and Houwen, RHJ and Kelly, DA and Maher, ER (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 and Kelly, D (2004) New hope for treatment of neonatal haemochromatosis. LANCET , 364 (9446) 1644 - 1645.

Goldspink, G and Yang, SY (2004) The splicing of the IGF-I gene to yield different muscle growth factors. In: UNSPECIFIED (23 - 49). ELSEVIER ACADEMIC PRESS INC

H

Hansen, JC and Desei, A and Yang, SY and Matthews, KG and Devlin, GP and Goldspink, G and Goldspink, PH (2004) A locally expressed splice variant of IGF-I reduces ischemic injury after myocardial infarction by inhibiting apoptosis. In: CIRCULATION. (pp. 285 - 285). LIPPINCOTT WILLIAMS & WILKINS

Hansen, JC and Desei, A and Yang, SY and Matthews, KG and McMahon, CD and Devlin, GP and Goldspink, G and Goldspink, PH (2004) A locally expressed splice variant of IGF-I reduces ischemic injury after myocardial infarction by inhibiting apoptosis. In: Circulation. (pp. 285, 1365 - ?).

Heales, S and Crawley, F and Rudge, P (2004) Reversible parkinsonism following heroin pyrolysate inhalation is associated with tetrahydrobiopterin deficiency. Movement Disorders , 19 (10) 1248 - 1251.

Heales, SJ and Lam, AA and Duncan, AJ and 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 and Lam, AAJ and Duncan, AJ and 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 and Cole, TJ (2004) Height monitoring as a diagnostic test. ARCH DIS CHILD , 89 (4) 296 - 297. 10.1136/adc.2003.039560.

Hitchins, MP and Rickard, S and Dhalla, F and de Vries, BB and Winter, R and Pembrey, ME and 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 and Aynsley-Green, A (2004) Hyperinsulinaemic hypoglycaemia in infancy and childhood - Resolving the enigma. J PEDIATR ENDOCR MET , 17 (10) 1375 - 1384.

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

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

Hussain, K and Aynsley-Green, A and 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 and Bitner-Glindzicz, M and Blaydon, D and Lindley, KJ and Thompson, DA and Kriss, T and Rajput, K and Ramadan, DG and Al-Mazidi, Z and Cosgrove, KE and Dunne, MJ and Aynsley-Green, A (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 and Bodamer, OA and Cameron, FJ and Camacho-Hubner, C and Soos, MA and Jones, J and Krywawych, S and O'Rahilly, S and Aynsley-Green, A (2004) Hypoketotic hypofattyacidaemic hypoinsulinaemic hypoglycaemia in a child with hemihypertrophy? A new syndrome. Horm Res , 61 (5) 222 - 227. 10.1159/000076553.

Hussain, K and 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 and Thornton, PS and Otonkoski, T and 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 and Ferrer, A and Ong, K and Amin, R and Dunger, D and 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 and Feather, SA and Bitner-Glindzicz, M and Akil, I and 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 and Hu, CC and Allison, J and Gullett, AM and Winyard, PJ and Malcolm, S and Feather, S and Sun, TT and Bitner-Glindzicz, M and Woolf, AS (2004) "De novo mutations in UPIIIA cause severe bilateral renal dysplasia". In: Journal of the American Society of Nephrology. (pp. 33A - ?).

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

K

Kinali, M and Olpin, SE and Clayton, PT and Daubeney, PEF and Mercuri, E and Manzur, AY and Tein, I and Leonard, J and Muntoni, F (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 and Morgan-Hughes, JA and Hargreaves, I and Heales, SJR (2004) Mitochondrial disease: A historical, biochemical, and London perspective. NEUROCHEM RES , 29 (3) 483 - 491.

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

Lin, L and Woodruff, TK and 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 and Doudney, K and Braybrook, C and Squires, R and Patton, MA and Lees, MM and Richieri-Costa, A and Lidral, AC and Murray, JC and Moore, GE and Stanier, P (2004) TBX22 mutations are a frequent cause of cleft palate. J MED GENET , 41 (1) 68 - 74. 10.1136/jmg.2003.010868.

Martins, LM and Morrison, A and Klupsch, K and Fedele, V and Moisoi, N and Teismann, P and Abuin, A and Grau, E and Geppert, M and Livi, GP and Creasy, CL and Martin, A and Hargreaves, I and Heales, SJ and Okada, H and Brandner, S and Schulz, JB and Mak, T and Downward, J (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 and Morrison, A and Klupsch, K and Fedele, V and Moisoi, N and Teismann, P and Abuin, A and Grau, E and Geppert, M and Livi, GP and Creasy, CL and Martin, A and Hargreaves, L and Heales, SJ and Okada, H and Brandner, S and Schulz, JB and Mak, T and Downward, J (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 and Newton, V and Murgia, A and Bitner-Glindzicz, M and Gasparini, P and Read, A and 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.

McMahon, CD and Devlin, GP and Matthews, KG and Goldspink, PH and Yang, SY and Conaglen, JV and Bass, JJ and Goldspink, G (2004) Mechano-growth factor reduces ischaemic injury after myocardial infarction. In: EUROPEAN HEART JOURNAL. (pp. 497 - 497). W B SAUNDERS CO LTD

McMahon, CD and Devlin, GP and Matthews, KG and Goldspink, PH and Yang, SY and Srai, SKS and Ramesh, B and Conaglen, JV and Bass, JJ and Goldspink, G (2004) UNSPECIFIED In: (Proceedings) Mechano-growth factor (MGF) reduces ischemic injury after myocardial infarction.

McMahon, CD and Devlin, GP and Matthews, KG and Goldspink, PH and Yang, SY and Srai, SKS and Ramesh, B and Conaglen, JV and Bass, JJ and Goldspink, G (2004) Acute protein administration, but not gene therapy with mechano-growth factor (MGF) reduces the severity of myocardial infarction. In: Heart Lung and Circulation. (pp. 226 - ?).

Mehta, A and Viner, R and Christie, D and Newson, T and Dattani, MT (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.

Metherell, LA and Savage, MO and Dattani, M and Walker, J and Clayton, PE and Farooqi, IS and 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 and Savage, MO and Dattani, M and Walker, J and Clayton, PE and Farooqi, IS and 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 and Vellodi, A and Morris, P and Cooper, D and Morris, M and Young, E and 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 and 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 and Heeson, S and Cooper, WN and Douglas, E and Apostolidou, S and Moore, GE and Maher, ER and Reik, W (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.

Murrell, A and Heeson, S and Cooper, WN and Douglas, E and Apostolidou, S and Moore, GE and Maher, ER and Reik, W (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.

N

Nakabayashi, K and Makino, S and Minagawa, S and Smith, AC and Bamforth, JS and Stanier, P and Preece, M and Parker-Katiraee, L and Paton, T and Oshimura, M and Mill, P and Yoshikawa, Y and Hui, CC and Monk, D and Moore, GE and Scherer, SW (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 and Petry, CJ and Barratt, BJ and Ring, S and Cordell, HJ and Wingate, DL and Pembrey, ME and Todd, JA and Dunger, DB (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 and Clayton, P and 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 and Alfonso-Sanchez, MA and Vidales, MC and Calderon, R and 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 and Ford, B and Chiriboga, CA and Clayton, PT and Hinton, V and Hyland, K and Sharma, R and De Vivo, DC (2004) Aromatic L-amino acid decarboxylase deficiency - Clinical features, treatment, and prognosis. NEUROLOGY , 62 (7) 1058 - 1065.

R

Richardson, CC and Jones, P and Persaud, S and Hussain, K and Clark, A and 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

Ryten, M and Yang, SY and Dunn, PM and Goldspink, G and Burnstock, G (2004) Purinoceptor expression in regenerating skeletal muscle in the mdx mouse model of muscular dystrophy and in satellite cell cultures. FASEB J , 18 (10) 1404 - +. 10.1096/fj.03-1175fje.

S

Saukkonen, T and Amin, R and Williams, RM and Fox, C and Yuen, KC and White, MA and Umpleby, AM and Acerini, CL and Dunger, DB (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 and Frank, CG and Keldermans, L and Reyntjens, R and Grubenmann, CE and Clayton, PT and Winchester, BG and Smeitink, J and Wevers, RA and Aebi, M and Hennet, T and Matthijs, G (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 and Conlon, H and Murakami, T and Fukai, K and Alles, R and Trembath, R and 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 and Offiah, A and Rutland, P and Sirimanna, T and Bitner-Glindzicz, M and 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 and 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 and Mitchell, H and Swords, FM and Main, KM and Hindmarsh, PC and Betts, PR and Shaw, NJ and Johnston, DI and Clark, AJL and Reznek, RH and Grossman, AB and Savage, MO (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 and Orth, M and Williams, S and Oluwole, I and Rahman, S and Clayton, P and 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 and D'Adamo, P and Briem, E and Ferrari, G and Mineri, R and Lamantea, E and Mandel, H and Balestri, P and Garcia-Silva, MT and Vollmer, B and Rinaldo, P and Hahn, SH and Leonard, J and Rahman, S and Dionisi-Vici, C and Garavaglia, B and Gasparini, P and Zeviani, M (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 and Crane, A and Cosgrove, KE and Hussain, K and Lavie, J and Heyman, M and Nesher, Y and Kuchinski, N and Ben-Shushan, E and Shatz, O and Nahari, E and Potikha, T and Zangen, D and Tenenbaum-Rakover, Y and De Vries, L and Argente, J and Gracia, R and Landau, H and Eliakim, A and Lindley, K and Dunne, MJ and Aguilar-Bryan, L and Glaser, B (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.

W

Witsch-Baumgartner, M and Gruber, M and Kraft, HG and Rossi, M and Clayton, P and Giros, M and Haas, D and Kelley, RI and Krajewska-Walasek, M and Utermann, G (2004) Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome. Journal of Medical Genetics , 41 (8) 577 - 584.

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

Z

Zeng, BY and Heales, SJR and Canevari, L and Rose, S and 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 and Tiranti, V and Briem, E and Ferrari, G and Mineri, R and Lamantea, E and Mandel, H and Balestri, P and Rinaldo, P and Hahn, SH and Leonard, J and Rahman, S and Dionisi-Vici, C and Vollmer, B and Garcia-Silva, MT and D'Adamo, P and Gasparini, P and Garavaglia, B (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 Wed Jun 19 05:00:21 2013 BST.