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Number of items: 100.

A

Achermann, JC; (2003) Highlights of the 1st NovoNordisk Meeting on Adult consequences of childhood endocrine disorders - promoting paediatric and adult interaction. Highlights 1 - 16.

Achermann, JC; (2003) Highlights of the 42nd Meeting of the European Society for Paediatric Endocrinology (ESPE). Highlights , 11 (5) 1 - 18.

Achermann, JC; Jameson, JL; (2003) Human disorders caused by nuclear receptor gene mutations. PURE AND APPLIED CHEMISTRY , 75 (11-12) 1785 - 1796.

Achermann, JC; Jameson, JL; (2003) Testis determination. Topical Endocrinology , 22 10 - 14.

Achermann, JC; Jameson, JL; (2003) Gonadotropin hormones: disorders. In: Cooper, DN, (ed.) Nature encyclopaedia of the human genome. (122 - 127). Nature Publishing Group: London.

Adinolfi, M; Barnett, D; Booth, C; Dehlanty, J; Edwards, J; Ferguson-Smith, M; ... Zallen, D; + view all (2003) RP402. In: Christie, DA and Tansey, EM, (eds.) Wellcome Witnesses to Twentieth Century Medicine.

Alam, NA; Rowan, AJ; Wortham, NC; Pollard, PJ; Mitchell, M; Tyrer, JP; ... Tomlinson, IPM; + view all (2003) Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. HUMAN MOLECULAR GENETICS , 12 (11) 1241 - 1252. 10.1093/hmg/ddg148.

Alexander, S; Anazodo, A; Hussain, K; (2003) Interactions of diazoxide with frusemide, spironolactone, and acetylsalicylic acid in a patient with hyperinsulinism of Infancy and Fallot tetralogy. EUR J PEDIATR , 162 (11) 806 - 807. 10.1007/s00431-003-1304-x.

Allen, LA; Achermann, JC; Pakarinen, P; Kotlar, TJ; Huhtaniemi, IT; Jameson, JL; ... Ball, SG; + view all (2003) A novel loss of function mutation in exon 10 of the FSH receptor gene causing hypergonadotrophic hypogonadism: clinical and molecular characteristics. HUM REPROD , 18 (2) 251 - 256.

Amin, R; Ross, K; Acerini, CL; Edge, JA; Warner, J; Dunger, DB; (2003) Hypoglycemia prevalence in prepubertal children with type 1 diabetes on standard insulin regimen: use of continuous glucose monitoring system. Diabetes Care , 26 (3) 662 - 667.

Amin, R; Schultz, C; Ong, K; Frystyk, J; Dalton, RN; Perry, L; ... Oxford Regional Prospective Study,; + view all (2003) Low IGF-I and elevated testosterone during puberty in subjects with type 1 diabetes developing microalbuminuria in comparison to normoalbuminuric control subjects: the Oxford Regional Prospective Study. Diabetes Care , 26 (5) 1456 - 1461.

Apostolidou, S; Williams, A; O'Donoghue, K; Birjandi, Z; Stanier, P; Loughna, P; Moore, GE; (2003) Intrauterine growth restriction and analysis of imprinted genes on 1IP15.5. In: Pediatrics Research. (pp. 37A - 37A).

Apostolidou, S; Williams, A; O'Donoghue, K; Birjandi, Z; Stanier, P; Loughna, P; Moore, GE; (2003) Intrauterine growth restriction and analysis of imprinted genes on 1IP15.5. In: PEDIATRIC RESEARCH. (pp. 37A - 37A). INT PEDIATRIC RESEARCH FOUNDATION, INC

Arnaud, P; Monk, D; Hitchins, M; Gordon, E; Dean, W; Beechey, CV; ... Kelsey, G; + view all (2003) Conserved methylation imprints in the human and mouse GRB10 genes with divergent allelic expression suggests differential reading of the same mark. HUM MOL GENET , 12 (9) 1005 - 1019. 10.1093/hmg/ddg110.

B

Bentley, L; Monk, D; Beechey, C; Peters, J; Birjandi, Z; Preece, MA; ... Moore, GE; + view all (2003) The imprinted region on human chromosome 7q32 extends to the carboxypeptidase A gene cluster. In: GENETICAL RESEARCH. (pp. 236 - 236). CAMBRIDGE UNIV PRESS

Bentley, L; Nakabayashi, K; Monk, D; Beechey, C; Peters, J; Birjandi, Z; ... Moore, GE; + view all (2003) The imprinted region on human chromosome 7q32 extends to the carboxypeptidase A gene cluster: an imprinted candidate for Silver-Russell syndrome. J MED GENET , 40 (4) 249 - 256.

Bhattacharya, K; Rahman, S; Leonard, J; (2003) Diagnosis and management of mitochondrial respiratory chain disorders. Current Paediatrics , 13 (7) 536 - 542. 10.1016/j.cupe.2003.08.006.

Blaydon, DC; Leroy, B; Bhattacharya, S; Bitner-Glindzicz, M; (2003) Missense changes in USH1C in a type 1 Usher patient? In: American Journal of Human Genetics. (pp. 516 - ?).

Blaydon, DC; Mueller, RF; Hutchin, TP; Leroy, BP; Bhattacharya, SS; Bird, AC; ... Bitner-Glindzicz, M; + view all (2003) The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK. CLIN GENET , 63 (4) 303 - 307.

C

Calderón, R; Carrion, M; Perez-Miranda, A; Peña, JA; Dugoujon, JM; Crouau-Roy, B; (2003) Allele variation of DYS19 and Y-Alu insertion (YAP) polymorphisms in Basques: An insight into the peopling of Europe and the Mediterranean region. Human Biology , 75 (1) 117 - 127.

Carvalho, LR; Mendonca, BB; Arnhold, IJP; Woods, KS; Dattani, MT; Marcal, N; ... Brickman, JM; + view all (2003) A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction. Journal of Clinical Investigation , 112 (8) 1192 - 1201. 10.1172/JCI200318589. Green open access
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Carvalho, LR; Woods, KS; Mendonca, BB; Marcal, N; Zamparini, AL; Stifani, S; ... Dattani, MT; + view all (2003) A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction. J Clin Invest , 112 (8) 1192 - 1201. 10.1172/JCI18589.

Charmandari, E; Pincus, SM; Matthews, DR; Johnston, A; Brook, CGD; Hindmarsh, PC; (2003) Sexual dimorphism in the synchrony of joint growth hormone and cortisol dynamics in children with classic 21-hydroxylase deficiency. J PEDIATR ENDOCR MET , 16 (8) 1119 - 1130.

Christie, D; Virdee, S; Thompson, R; Hindmarsh, P; (2003) Auditing a paediatric diabetes clinic: Lessons for the future. Journal of Diabetes nursing , 7 (7) 249 - 253.

Clayton, PT; (2003) Diagnosis of inherited disorders of liver metabolism. JOURNAL OF INHERITED METABOLIC DISEASE , 26 (2) 135 - 146.

Clayton, PT; Surtees, RAH; DeVile, C; Hyland, K; Heales, SJR; (2003) Neonatal epileptic encephalopathy. LANCET , 361 (9369) 1614 - 1614.

Cordery, RJ; Hall, M; Cipolotti, L; Al-Sarraj, S; O'Donovan, DG; Davidson, L; ... Rossor, MN; + view all (2003) Early cognitive decline in Creutzfeldt-Jakob disease associated with human growth hormone treatment. J NEUROL NEUROSUR PS , 74 (10) 1412 - 1416.

Creighton, S; Ransley, P; Duffy, P; Wilcox, D; Mushtaq, I; Cuckow, P; ... Perry, L; + view all (2003) Regarding the consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology. J CLIN ENDOCR METAB , 88 (7) 3455 - 3455. 10.1210/jc.2003-030127.

Creighton, S; Ransley, P; Duffy, P; Wilcox, D; Mushtaq, I; Cuckow, P; ... Poppas, DP; + view all (2003) Regarding the consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology [2] (multiple letters). Journal of Clinical Endocrinology and Metabolism , 88 (7) 3455 - 3456. 10.1210/jc.2003-030127.

Creighton, SM; Ransley, P; Duffy, P; Wilcox, D; Mushtaq, I; Cuckow, PM; ... Perry, L; + view all (2003) Consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology. Hormone Research , 59 (5) 262 - 262. 10.1159/000070228.

D

Dattani, MT; (2003) Borjeson-Forssman-Lehmann syndrome: A novel pituitary phenotype due to mutation in a novel gene. Journal of Pediatric Endocrinology and Metabolism , 16 (9) 1207 - 1209.

Dattani, MT; (2003) DNA testing in patients with GH deficiency at the time of transition. Growth Hormone and IGF Research , 13 (SUPPL. A) 10.1016/S1096-6374(03)00068-6.

Dattani, MT; Hindmarsh, PC; (2003) Premature sexual maturation. In: Shalet, S and Wass, JAH, (eds.) Oxford Textbook of Endocrinology and Diabetes. (1046 - 1063). Oxford University Press: Oxford.

Dattani, MT; McNay, D; (2003) The role of homeobox genes in disorders of pituitary development. CME Bulletin Endocrinology and Diabetes , 4 (3) 43 - 47.

Dennison, EM; Hindmarsh, PC; Kellingray, S; Fall, CHD; Cooper, C; (2003) Growth hormone predicts bone density in elderly women. BONE , 32 (4) 434 - 440. 10.1016/S8756-3282(03)00035-8.

Duncan, AJ; Hargreaves, IP; Clark, JB; Heales, SJR; (2003) Nitric oxide increases ubiquinone synthesis in the C6 glioma cell line. In: JOURNAL OF NEUROCHEMISTRY. (pp. 155 - 155). BLACKWELL PUBLISHING LTD

E

Eaton, S; Chatziandreou, I; Krywawych, S; Pen, S; Clayton, PT; Hussain, K; (2003) Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with hyperinsulinism: a novel glucose-fatty acid cycle? Biochem Soc Trans , 31 (Pt 6) 1137 - 1139.

Eaton, S; Chatziandreou, I; Pen, S; Krywawych, S; Clayton, PT; Hussain, K; (2003) Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with hyperinsulinism: A novel glucose-fatty acid cycle? Biochemical Society Transactions , 31 (6) 1137 - 1139.

Evans, B; Sowden, J; Kobayashi, I; Holme, R; Steel, K; Bitner-Glindzicz, M; (2003) The Expression Pattern of the Ush1C Protein in the Mouse Eye Suggests Differences in Usher Type 1 Multi Protein Complex Formation Between the Ear and the Eye. In: ARVO Annual Meeting Abstract Search and Program Planner. (pp. Abstract - ?).

Evans, BR; Sowden, J; Kobayashi, I; Holme, R; Steel, K; Bitner-Glindzicz, M; (2003) The expression pattern of the USH1C protein in the mouse eye suggests differences in Usher type 1 multi protein complex formation between the ear and the eye. In: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. (pp. U275 - U275). ASSOC RESEARCH VISION OPHTHALMOLOGY INC

G

Gambling, L; Dunford, S; Wallace, DI; Zuur, G; Solanky, N; Kaila, S; ... McArdle, HJ; + view all (2003) Iron deficiency during pregnancy affects postnatal blood pressure in the rat. J PHYSIOL-LONDON , 552 (2) 603 - 610. 10.1113/jphysiol.2003.051383.

Geary, MPP; Pringle, PJ; Rodeck, CH; Kingdom, JCP; Hindmarsh, PC; (2003) Sexual dimorphism in the growth hormone and insulin-like growth factor axis at birth. J CLIN ENDOCR METAB , 88 (8) 3708 - 3714. 10.1210/jc.2002-022006.

Gegg, ME; Beltran, B; Salas-Pino, S; Bolanos, JP; Clark, JB; Moncada, S; Heales, SJR; (2003) Differential effect of nitric oxide on glutathione metabolism and mitochondrial function in astrocytes and neurones: implications for neuroprotection/neurodegeneration? Journal of Neurochemistry , 86 (1) 228 - 237.

Gegg, ME; Beltran, B; Salas-Pino, S; Bolanos, JP; Clark, JB; Moncada, S; Heales, SJR; (2003) Differential effect of nitric oxide on glutathione metabolism and mitochondrial function in astrocytes and neurones: implications for neuroprotection/neurodegeneration? J NEUROCHEM , 86 (1) 228 - 237. 10.1046/j.1471-4159.2003.01821.x.

Gissen, P; Johnson, CA; Eastham, KM; McClean, P; Morris, AAM; Wraith, JE; ... Maher, ER; + view all (2003) Clinical and molecular genetics of ARC syndrome. In: AMERICAN JOURNAL OF HUMAN GENETICS. (pp. 445 - 445). UNIV CHICAGO PRESS

Gissen, P; Johnson, CA; Stapelbroek, J; McKiernan, PJ; Thompson, RJ; Houwen, R; ... Maher, ER; + view all (2003) ARC syndrome is not allelic to PFIC 1 and 2. In: JOURNAL OF MEDICAL GENETICS. (pp. S64 - S64). B M J PUBLISHING GROUP

Gissen, P; Preece, MA; Willshaw, HA; McKiernan, PJ; (2003) Ophthalmic follow-up of patients with tyrosinaemia type I on NTBC. J INHERIT METAB DIS , 26 (1) 13 - 16.

H

Hanigan, MH; Barbar, M; Cullinane, C; Denecke, J; Gissen, P; Jaubert, F; ... Knisely, AS; + view all (2003) Decreased expression of gamma-glutamyl transpeptidase at the bile canaliculus in arthrogryposis - Renal dysfunction - Cholestasis syndrome. In: LABORATORY INVESTIGATION. (pp. 301A - 301A). LIPPINCOTT WILLIAMS & WILKINS

Hanigan, MH; Barbar, M; Cullinane, C; Denecke, J; Gissen, P; Jaubert, F; ... Knisely, AS; + view all (2003) Decreased expression of gamma-glutamyl transpeptidase at the bile canaliculus in arthrogryposis renal dysfunction cholestasis syndrome. In: MODERN PATHOLOGY. (pp. 301A - 301A). LIPPINCOTT WILLIAMS & WILKINS

Hargreaves, IP; Heales, SJR; Briddon, A; Lee, PJ; Hanna, MG; Land, JM; (2003) Primary pyruvate dehydrogenase E3 binding protein deficiency with mild hyperlactataemia and hyperalaninaemia. J INHERIT METAB DIS , 26 (5) 505 - 506.

Head, R; Brown, R; Rahman, S; Boubriak, I; Brown, G; (2003) A novel splicing mutation in the SURF1 gene. In: Journal of Inherited Metabolic Disease. (pp. 100 - ?).

Heales, S; (2003) Increased nitric oxide production and protection from malaria. The Lancet , 361 (9357) 609 - 610.

Heales, SJR; (2003) Oxidative stress and neuronal mitochondrial function. Factors dictating susceptibility. In: JOURNAL OF NEUROCHEMISTRY. (pp. 3 - 3). BLACKWELL PUBLISHING LTD

Hemberger, M; Ferguson-Smith, A; Moore, G; (2003) 'Imprinting and growth congress' 2002, London, UK. Placenta , 24 (1) 119 - 121. 10.1053/plac.2002.0892.

Hindmarsh, PC; Cole, TJ; (2003) Post-natal growth - Anthropometric and endocrine changes. In: PEDIATRIC RESEARCH. (pp. 8A - 8A). INT PEDIATRIC RESEARCH FOUNDATION, INC

Hitchins, MP; Moore, GE; (2003) Genomic imprinting in fetal growth and development. Reproductive Medicine Review , 11 (1) 1 - 24. 10.1017/S0962279904001048.

Hussain, K; (2003) Correspondence referring to Plecko B, Stoeckler-Ipsiroglu S, Schober E, Harrer G, Mlynarik V, Gruber S, Moser E, Moeslinger D, Silgoner H, Ipsiroglu O 2002 Oral {beta}-hydroxybutyrate supplementation in two patients with hyperinsulinermic hypoglycemia: mo. Pediatric Research

Hussain, K; Aynsley-Green, A; (2003) Hyperinsulinism in infancy: understanding the pathophysiology. INT J BIOCHEM CELL B , 35 (9) 1312 - 1317. 10.1016/S1357-2725(03)00103-1.

Hussain, K; Eaton, S; Clayton, P; (2003) Exogenous administered DL- sodium beta-hydroxybutyrate (beta-OHB) can cross the blood brain barrier. Pediatric Research , 53 (5) 865 - 866.

Hussain, K; Eaton, S; Clayton, P; Plecko, B; Schober, E; Stöckler-Ipsiroglu, S; (2003) Letter to the editor [1] (multiple letters). Pediatric Research , 53 (5) 865 - 866. 10.1203/01.PDR.0000063370.16142.2F.

Hussain, K; Hindmarsh, P; Aynsley-Green, A; (2003) Neonates with symptomatic hyperinsulinemic hypoglycemia generate inappropriately low serum cortisol counterregulatory hormonal responses. J CLIN ENDOCR METAB , 88 (9) 4342 - 4347. 10.1210/jc.2003-030135.

Hussain, K; Hindmarsh, P; Aynsley-Green, A; (2003) Spontaneous hypoglycemia in childhood is accompanied by paradoxically low serum growth hormone and appropriate cortisol counterregulatory hormonal responses. J CLIN ENDOCR METAB , 88 (8) 3715 - 3723. 10.1210/jc.2003-030137.

I

Ibanez, L; Ong, K; Ferrer, A; Amin, R; Dunger, D; de Zegher, F; (2003) Low-dose flutamide-metformin therapy reverses insulin resistance and reduces fat mass in nonobese adolescents with ovarian hyperandrogenism. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM , 88 (6) 2600 - 2606. 10.1210/jc.2002-022002.

J

Jackson, RS; Creemers, JW; Farooqi, IS; Raffin-Sanson, ML; Varro, A; Dockray, GJ; ... O'Rahilly, S; + view all (2003) Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency. J Clin Invest , 112 (10) 1550 - 1560. 10.1172/JCI18784.

Jackson, RS; Creemers, JWM; Farooqi, IS; O'Rahilly, S; Raffin-Sanson, M-L; Bertagna, X; ... Nicole, TM; + view all (2003) Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency. Journal of Clinical Investigation , 112 (10) 1550 - 1560. 10.1172/JCI200318784. Green open access
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Jameson, JL; Achermann, JC; Ozisik, G; Meeks, JJ; (2003) Battle of the sexes: new insights into genetic pathways of gonadal development. Trans Am Clin Climatol Assoc , 114 51 - 63.

Joffe, TH; Cole, TJ; Wells, JCK; Geary, MP; Rodeck, CH; Hindmarsh, PC; (2003) A new method for quantifying encephalization in the growing individual. J THEOR BIOL , 225 (3) 361 - 367. 10.1016/S0022-5193(03)00263-7.

Johnson, CA; Gissen, P; Sergi, C; (2003) Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes. J MED GENET , 40 (5) 311 - 319.

L

Lam, AJ; Pocock, JM; Heales, SJR; (2003) Tetrahydrobiopterin deficiency and mitochondrial dysfunction in astrocytes: implication for neurodegeneration. In: JOURNAL OF NEUROCHEMISTRY. (pp. 131 - 131). BLACKWELL PUBLISHING LTD

Lemonde, HA; Custard, EJ; Bouquet, J; Duran, M; Overmars, H; Scambler, PJ; Clayton, PT; (2003) Mutations in SRD5B1 (AKR1D1), the gene encoding Delta(4)-3-oxosteroid 5 beta-reductase, in hepatitis and liver failure in infancy. GUT , 52 (10) 1494 - 1499. Green open access
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Liolitsa, D; Rahman, S; Benton, S; Carr, LJ; Hanna, MG; (2003) Is the mitochondrial complex IND5 gene a hot-spot for MELAS causing mutations? ANN NEUROL , 53 (1) 128 - 132. 10.1002/ana.10435.

Loughlin, S; Rickard, S; Jenkins, L; Bitner-Glindzicz, M; Norbury, G; (2003) Molecular genetic testing for branchio-oto-renal syndrome at North East Thames regional molecular genetics. In: JOURNAL OF MEDICAL GENETICS. (pp. S80 - S80). B M J PUBLISHING GROUP

M

Mehta, A; Hindmarsh, PC; Stanhope, RG; Brain, CE; Preece, MA; Dattani, MT; (2003) Is the thyrotropin-releasing hormone test necessary in the diagnosis of central hypothyroidism in children. J CLIN ENDOCR METAB , 88 (12) 5696 - 5703. 10.1210/jc.2003-030943.

Mehta, A; Hussain, K; (2003) Transient hyperinsulinism associated with macrosomia, hypertrophic obstructive cardiomyopathy, hepatomegaly, and nephromegaly. Archives of Disease in Childhood , 88 (9) 822 - 824. 10.1136/adc.88.9.822.

Mills, K; Mills, PB; Clayton, PT; Mian, N; Johnson, AW; Winchester, BG; (2003) The underglycosylation of plasma alpha(1)-antitrypsin in congenital disorders of glycosylation type I is not random. GLYCOBIOLOGY , 13 (2) 73 - 85. 10.1093/glycob/cwg026.

Mills, PB; Mills, K; Mian, N; Winchester, BG; Clayton, PT; (2003) Mass spectrometric analysis of glycans in elucidating the pathogenesis of CDG type IIx. JOURNAL OF INHERITED METABOLIC DISEASE , 26 (2) 119 - 134.

Monk, D; Beechey, C; Smith, R; Arnaud, P; Peters, J; Preece, M; ... Moore, G; + view all (2003) The use of methylation-sensitive representational difference analysis to identify novel differentially methylated regions/imprinted genes on mouse proximal chromosome 11. In: GENETICAL RESEARCH. (pp. 235 - 235). CAMBRIDGE UNIV PRESS

Monk, D; Smith, R; Arnaud, P; Preece, MA; Stanier, P; Beechey, CV; ... Moore, GE; + view all (2003) Imprinted methylation profiles for proximal mouse Chromosomes 11 and 7 as revealed by methylation-sensitive representational difference analysis. MAMM GENOME , 14 (12) 805 - 816.

Morgan, NV; Bacchelli, C; Gissen, P; Morton, J; Ferrero, GB; Silengo, M; ... Johnson, CA; + view all (2003) A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13. J MED GENET , 40 (6) 431 - 435.

Mundy, HR; Hindmarsh, PC; Matthews, DR; Leonard, JV; Lee, PJ; (2003) The regulation of growth in glycogen storage disease type 1. CLIN ENDOCRINOL , 58 (3) 332 - 339.

O

Offiah, AC; Mansour, S; Jeffrey, I; Nash, R; Whittock, N; Pyper, R; ... Hall, CM; + view all (2003) Greenberg dysplasia (HEM) and lethal X linked dominant Conradi-Hunermann chondrodysplasia punctata (CDPX2): presentation of two cases with overlapping phenotype. Journal of Medical Genetics , 40 (12) e129 - ?.

Olpin, SE; Afifi, A; Clark, S; Manning, NJ; Bonham, JR; Dalton, A; ... Pollitt, RJ; + view all (2003) Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency. J INHERIT METAB DIS , 26 (6) 543 - 557.

Ozisik, G; Achermann, JC; Meeks, JJ; Jameson, JL; (2003) SF1 in the development of the adrenal gland and gonads. HORMONE RESEARCH , 59 94 - 98. 10.1159/000067831.

Ozisik, G; Mantovani, G; Achermann, JC; Persani, L; Spada, A; Weiss, J; ... Jameson, JL; + view all (2003) An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita. The Journal of Clinical Endocrinology & Metabolism , 88 (1) 417 - 423. 10.1210/jc.2002-021034. Green open access
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P

Perez-Miranda, AM; Alfonso-Sanchez, MA; Pena, JA; Calderon, R; (2003) HLA-DQA1 polymorphism in autochthonous Basques from Navarre (Spain): Genetic position within European and Mediterranean scopes. TISSUE ANTIGENS , 61 (6) 465 - 474.

R

Roche, EF; Charmandari, E; Dattani, MT; Hindmarsh, PC; (2003) Blood pressure in children and adolescents with congenital adrenal hyperplasia (21-hydroxylase deficiency): a preliminary report. CLIN ENDOCRINOL , 58 (5) 589 - 596.

S

Scherer, SW; Cheung, J; MacDonald, JR; Osborne, LR; Nakabayashi, K; Herbrick, JA; ... Tsui, LC; + view all (2003) Human chromosome 7: DNA sequence and biology. SCIENCE , 300 (5620) 767 - 772. 10.1126/science.1083423.

Simpson, RJ; Debnam, ES; Laftah, AH; Solanky, N; Beaumont, N; Bahram, S; ... Srai, SKS; + view all (2003) Duodenal nonheme iron content correlates with iron stores in mice, but the relationship is altered by Hfe gene knock-out. BLOOD , 101 (8) 3316 - 3318. 10.1182/blood-2002-10-3112.

Stewart, VC; Heales, SJR; (2003) Nitric oxide-induced mitochondrial dysfunction: Implications for neurodegeneration. FREE RADICAL BIO MED , 34 (3) 287 - 303. 10.1016/S0891-5849(02)01327-8.

Swerdlow, AJ; Higgins, CD; Adlard, P; Jones, ME; Preece, MA; (2003) Creutzfeldt-Jakob disease in United Kingdom patients treated with human pituitary growth hormone. NEUROLOGY , 61 (6) 783 - 791.

T

Thompson, R; Christie, D; Hindmarsh, P; Viner, RM; (2003) Sharing the News: A workshop for nurses and doctors caring for young people with Diabetes. Journal of Diabetes Nursing , 7 (8) 293 - 296.

Thorburn, DR; Rahman, S; (2003) Mitochondrial DNA-Associated Leigh Syndrome and NARP. In: GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle.

W

Wakeling, EL; Dattani, MT; Bloch-Zupan, A; Winter, RM; Holder, SE; (2003) Septo-optic dysplasia, subglottic stenosis and skeletal abnormalities: a case report. CLIN DYSMORPHOL , 12 (2) 105 - 107. 10.1097/01.mcd.0000058255.06646.5f.

Wakeling, EL; Holder, SE; Winter, RM; Dattani, MT; Bloch-Zupan, A; (2003) Septo-optic dysplasia, subglottic stenosis and skeletal abnormalities: A case report. Clinical Dysmorphology , 12 (2) 105 - 107. 10.1097/00019605-200304000-00006.

Whittaker, JC; Gharani, N; Hindmarsh, PC; McCarthy, MI; (2003) Estimation and testing of parent-of-origin effects for quantitative traits. The American Journal of Human Genetics , 72 (4) 1035 - 1039. 10.1086/374382.

Whittock, NV; Izatt, L; Mann, A; Homfray, T; Bennett, C; Mansour, S; ... Clayton, PT; + view all (2003) Novel mutations in X-linked dominant chondrodysplasia punctata (CDPX2). J INVEST DERMATOL , 121 (4) 939 - 942.

Williams, RM; Amin, R; Saukkonen, T; Dunger, D; (2003) Recent advances in diabetes mellitus. Current Paediatrics , 13 (2) 128 - 133. 10.1054/cupe.2003.0426.

Williams, RM; Amin, R; Shojaee-Moradie, F; Umpleby, AM; Acerini, CL; Dunger, DB; (2003) The effects of a specific growth hormone antagonist on overnight insulin requirements and insulin sensitivity in young adults with Type 1 diabetes mellitus. Diabetologia , 46 (9) 1203 - 1210. 10.1007/s00125-003-1175-8.

Wolf, NI; Rahman, S; Clayton, PT; Zschocke, J; (2003) Mitochondrial HMG-CoA synthase deficiency: identification of two further patients carrying two novel mutations. EUR J PEDIATR , 162 (4) 279 - 280. 10.1007/s00431-002-1110-x.

Woods, K; Dattani, MT; (2003) Genetic basis of forebrain and pituitary disorders. In: Epstein, C and Erickson, R and Wynshaw-Boris, A, (eds.) Molecular Basis of Invorn Errors of Development. Oxford University Press: Oxford.

This list was generated on Sun Apr 13 05:55:33 2014 BST.