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Number of items: 104.

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

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

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

Adinolfi, M and Barnett, D and Booth, C and Dehlanty, J and Edwards, J and Ferguson-Smith, M and Galton, D and Handyside, A and Harris, R and Holding, C and Malcolm, S and Mittwoch, U and Modell, B and Pembrey, M and Pfeffer, N and Polani, P and Povey, S and Roberts, D and Rodeck, C and Tippett, P and Tyrrell, D and Weatherall, D and Woodrow, J and Young, E and Zallen, D (2003) RP402. In: Christie, DA and Tansey, EM, (eds.) Wellcome Witnesses to Twentieth Century Medicine.

Alam, NA and Rowan, AJ and Wortham, NC and Pollard, PJ and Mitchell, M and Tyrer, JP and Barclay, E and Calonje, E and Manek, S and Adams, SJ and Bowers, PW and Burrows, NP and Charles-Holmes, R and Cook, LJ and Daly, BM and Ford, GP and Fuller, LC and Hadfield-Jones, SE and Hardwick, N and Highet, AS and Keefe, M and MacDonald-Hull, SP and Potts, EDA and Crone, M and Wilkinson, S and Camacho-Martinez, F and Jablonska, S and Ratnavel, R and MacDonald, A and Mann, RJ and Grice, K and Guillet, G and Lewis-Jones, MS and McGrath, H and Seukeran, DC and Morrison, PJ and Fleming, S and Rahman, S and Kelsell, D and Leigh, I and Olpin, S and Tomlinson, IPM (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 and Anazodo, A and 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 and Achermann, JC and Pakarinen, P and Kotlar, TJ and Huhtaniemi, IT and Jameson, JL and Cheetham, TD and Ball, SG (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 and Ross, K and Acerini, CL and Edge, JA and Warner, J and 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 and Schultz, C and Ong, K and Frystyk, J and Dalton, RN and Perry, L and Ørskov, H and Dunger, DB and Oxford Regional Prospective Study, (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.

Aperghis, M and Johnson, IP and Cannon, J and Yang, S and Goldspink, G (2003) Protection of axotomised adult facial motoneurons with a splice variant of IGF-1 isolated from active skeletal muscle. In: Journal of Anatomy. (pp. 147 - 148).

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

Apostolidou, S and Williams, A and O'Donoghue, K and Birjandi, Z and Stanier, P and Loughna, P and 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 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 (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 and Monk, D and Beechey, C and Peters, J and Birjandi, Z and Preece, MA and Stanier, P and Moore, GE (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 and Nakabayashi, K and Monk, D and Beechey, C and Peters, J and Birjandi, Z and Khayat, FE and Patel, M and Preece, MA and Stanier, P and Scherer, SW and Moore, GE (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 and Rahman, S and Leonard, J (2003) Diagnosis and management of mitochondrial respiratory chain disorders. Current Paediatrics , 13 (7) 536 - 542.

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

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

C

Calderón, R and Carrion, M and Perez-Miranda, A and Peña, JA and Dugoujon, JM and 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 and Woods, KS and Mendonca, BB and Marcal, N and Zamparini, AL and Stifani, S and Brickman, JM and Arnhold, IJ and Dattani, MT (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.

Carvalho, LR and Woods, KS and Mendonca, BB and Marcal, N and Zamparini, AL and Stifani, S and Brickman, JM and Arnhold, IJP and Dattani, MT (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.
An open access version is available from UCL Discovery
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Charmandari, E and Pincus, SM and Matthews, DR and Johnston, A and Brook, CGD and 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.

Cheema, U and Yang, SY and Mudera, V and Goldspink, GG and Brown, RA (2003) 3-D in vitro model of early skeletal muscle development. CELL MOTIL CYTOSKEL , 54 (3) 226 - 236. 10.1002/cm.10095.

Christie, D and Virdee, S and Thompson, R and 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 and Surtees, RAH and DeVile, C and Hyland, K and Heales, SJR (2003) Neonatal epileptic encephalopathy. LANCET , 361 (9369) 1614 - 1614.

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

Creighton, S and Ransley, P and Duffy, P and Wilcox, D and Mushtaq, I and Cuckow, P and Woodhouse, C and Minto, C and Crouch, N and Stanhope, R and Hughes, I and Dattani, M and Hindmarsh, P and Brain, C and Achermann, J and Conway, G and Liao, LM and Barnicoat, A and Perry, L (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 and Ransley, P and Duffy, P and Wilcox, D and Mushtaq, I and Cuckow, P and Woodhouse, C and Minto, C and Crouch, N and Stanhope, R and Hughes, I and Dattani, M and Hindmarsh, P and Brain, C and Achermann, J and Conway, G and Liao, LM and Barnicoat, A and Perry, L and Miller, WL and Oberfield, SE and Speiser, PW and Baskin, LS and Donahoe, PK and N-Fekete, C and Hutson, JM and Poppas, DP (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.

Creighton, SM and Ransley, P and Duffy, P and Wilcox, D and Mushtaq, I and Cuckow, PM and Woodhouse, CRJ and Minto, C and Crouch, NS and Stanhope, R and Hughes, I and Dattani, M and Hindmarsh, P and Brain, C and Achermann, J and Conway, G and Liao, LM and Barnicoat, A and Perry, L (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) S122 - S129.

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

Dennison, EM and Hindmarsh, PC and Kellingray, S and Fall, CHD and 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 and Hargreaves, IP and Clark, JB and 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 and Chatziandreou, I and Krywawych, S and Pen, S and Clayton, PT and 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 and Chatziandreou, I and Krywawych, S and Pen, S and Clayton, PT and 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 and Sowden, J and Kobayashi, I and Holme, R and Steel, K and 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 and Sowden, J and Kobayashi, I and Holme, R and Steel, K and 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 and Dunford, S and Wallace, DI and Zuur, G and Solanky, N and Kaila, S and Srai, S and McArdle, HJ (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 and Pringle, PJ and Rodeck, CH and Kingdom, JCP and 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 and Beltran, B and Salas-Pino, S and Bolanos, JP and Clark, JB and Moncada, S and 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 and Beltran, B and Salas-Pino, S and Bolanos, JP and Clark, JB and Moncada, S and 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 and Johnson, CA and Eastham, KM and McClean, P and Morris, AAM and Wraith, JE and Lynch, SA and Quarrell, OWJ and Kelly, DA and McKiernan, PJ and Maher, ER (2003) Clinical and molecular genetics of ARC syndrome. In: AMERICAN JOURNAL OF HUMAN GENETICS. (pp. 445 - 445). UNIV CHICAGO PRESS

Gissen, P and Johnson, CA and Stapelbroek, J and McKiernan, PJ and Thompson, RJ and Houwen, R and Kelly, DA and Maher, ER (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 and Preece, MA and Willshaw, HA and 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 and Barbar, M and Cullinane, C and Denecke, J and Gissen, P and Jaubert, F and Malone, M and McKiernan, P and Knisely, AS (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 and Barbar, M and Cullinane, C and Denecke, J and Gissen, P and Jaubert, F and Malone, M and McKiernan, P and Knisely, AS (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 and Heales, SJR and Briddon, A and Lee, PJ and Hanna, MG and 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 and Brown, R and Rahman, S and Boubriak, I and 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 and Ferguson-Smith, A and Moore, G (2003) 'Imprinting and growth congress' 2002, London, UK. Placenta , 24 (1) 119 - 121.

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

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

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 and 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 and Eaton, S and 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 and Eaton, S and Clayton, P and Plecko, B and Schober, E and Stöckler-Ipsiroglu, S (2003) Letter to the editor [1] (multiple letters). Pediatric Research , 53 (5) 865 - 866.

Hussain, K and Hindmarsh, P and 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 and Hindmarsh, P and 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 and Ong, K and Ferrer, A and Amin, R and Dunger, D and 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 and Creemers, JW and Farooqi, IS and Raffin-Sanson, ML and Varro, A and Dockray, GJ and Holst, JJ and Brubaker, PL and Corvol, P and Polonsky, KS and Ostrega, D and Becker, KL and Bertagna, X and Hutton, JC and White, A and Dattani, MT and Hussain, K and Middleton, SJ and Nicole, TM and Milla, PJ and Lindley, KJ and O'Rahilly, S (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 and Creemers, JWM and Farooqi, IS and Raffin-Sanson, M-L and Varro, A and Dockray, GJ and Holst, JJ and Brubaker, PL and Corvol, P and Polonsky, KS and Ostrega, D and Becker, KL and Bertagna, X and Hutton, JC and White, A and Dattani, MT and Hussain, K and Middleton, SJ and Nicole, TM and Milla, PJ and Lindley, KJ and O'Rahilly, S (2003) Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency. Journal of Clinical Investigation , 112 (10) 1550 - 1560.
An open access version is available from UCL Discovery
 file

Jameson, JL and Achermann, JC and Ozisik, G and 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 and Cole, TJ and Wells, JCK and Geary, MP and Rodeck, CH and 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 and Gissen, P and Sergi, C (2003) Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes. J MED GENET , 40 (5) 311 - 319.

L

Lam, AJ and Pocock, JM and 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 and Custard, EJ and Bouquet, J and Duran, M and Overmars, H and Scambler, PJ and 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.
An open access version is available from UCL Discovery
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Liolitsa, D and Rahman, S and Benton, S and Carr, LJ and 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 and Rickard, S and Jenkins, L and Bitner-Glindzicz, M and 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 and Hindmarsh, PC and Stanhope, RG and Brain, CE and Preece, MA and 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 and Hussain, K (2003) Transient hyperinsulinism associated with macrosomia, hypertrophic obstructive cardiomyopathy, hepatomegaly, and nephromegaly. Archives of Disease in Childhood , 88 (9) 822 - 824.

Mills, K and Mills, PB and Clayton, PT and Mian, N and Johnson, AW and 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 and Mills, K and Mian, N and Winchester, BG and 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 and Beechey, C and Smith, R and Arnaud, P and Peters, J and Preece, M and Stanier, P and Kelsey, G and Moore, G (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 and Smith, R and Arnaud, P and Preece, MA and Stanier, P and Beechey, CV and Peters, J and Kelsey, G and Moore, GE (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 and Bacchelli, C and Gissen, P and Morton, J and Ferrero, GB and Silengo, M and Labrune, P and Casteels, I and Hall, C and Cox, P and Kelly, DA and Trembath, RC and Scambler, PJ and Maher, ER and Goodman, FR and Johnson, CA (2003) A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13. J MED GENET , 40 (6) 431 - 435.

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

O

Offiah, AC and Mansour, S and Jeffrey, I and Nash, R and Whittock, N and Pyper, R and Bewley, S and Clayton, PT and Hall, CM (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 and Afifi, A and Clark, S and Manning, NJ and Bonham, JR and Dalton, A and Leonard, JV and Land, JM and Andresen, BS and Morris, AA and Muntoni, F and Turnbull, D and Pourfarzam, M and Rahman, S and Pollitt, RJ (2003) Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency. J INHERIT METAB DIS , 26 (6) 543 - 557.

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

Ozisik, G and Mantovani, G and Achermann, JC and Persani, L and Spada, A and Weiss, J and Beck-Peccoz, P and Jameson, JL (2003) An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita. J CLIN ENDOCR METAB , 88 (1) 417 - 423. 10.1210/jc.2002-021034.

P

Perez-Miranda, AM and Alfonso-Sanchez, MA and Pena, JA and 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 and Charmandari, E and Dattani, MT and 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

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This list was generated on Sat May 25 11:47:12 2013 BST.