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Number of items: 69.


Achermann, JC; Hughes, IA; (2008) Disorders of sex development. In: Kronenberg, HM and Melmed, S and Polonsky, KS and Larsen, PR, (eds.) William's textbook of endocrinology. (783 - 848). Elsevier: Philadelphia.

Achermann, JC; Jameson, JL; (2008) Disorders of sex development. In: Fauci, AS and Braunwald, E and Kasper, DL and Hauser, SL and Jameson, JL and Loscalzo, J, (eds.) Harrison’s principles of internal medicine. (2339 - 2346). McGraw-Hill: New York, USA.

Ajammaz, SA; Clayton, PT; Hesketh, TM; (2008) Nutritional management of PKU in Saudi Arabia. J INHERIT METAB DIS , 31 141 - 141.

Al-Gazali, L; Hertecant, J; Algawi, K; El Teraifi, H; Dattani, M; (2008) A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family. AM J MED GENET A , 146A (7) 813 - 819. 10.1002/ajmg.a.32114.

Alatzoglou, K; Turton, J; Savage, M; Raza, J; Banerjee, K; Sinha, S; ... Dattani, MT; + view all (2008) Novel mutations in GHRHR associated with Type IB IGHD. HORM RES , 70 89 - 89.

Alatzoglou, KS; Hindmarsh, PC; Brain, C; Torpiano, J; Dattani, MT; (2008) Acanthosis nigricans and insulin sensitivity in patients with skeletal dysplasia. HORM RES , 70 147 - 147.

Alfonso-Sanchez, MA; Perez-Miranda, AM; Herrera, RJ; (2008) Autosomal microsatellite variability of the Arrernte people of Australia. AM J HUM BIOL , 20 (1) 91 - 99. 10.1002/ajhb.20685.

Allen, G; Clayton, P; Land, J; Hyland, K; Heales, S; (2008) Pyridoxal phosphate availability and aromatic amino acid decarboxylase activity. Implications for AADC deficiency and inborn errors of vitamin B6 metabolism. J INHERIT METAB DIS , 31 138 - 138.

Amin, R; Frystyk, J; Ong, K; Dalton, RN; Flyvbjerg, A; Dunger, DB; (2008) The development of microalbuminuria is associated with raised longitudinal adiponectin levels in female but not male adolescent patients with type 1 diabetes. Diabetologia , 51 (9) 1707 - 1713. 10.1007/s00125-008-1081-1.


Bajaj, Y; Sirimanna, T; Albert, DM; Qadir, P; Jenkins, L; Bitner-Glindzicz, M; (2008) Spectrum of GJB2 mutations causing deafness in the British Bangladeshi population. CLIN OTOLARYNGOL , 33 (4) 313 - 318.

Blankenstein, O; Mohnike, W; Hussain, K; Barthlen, W; Koch, M; Fuchtner, F; ... Gruters, A; + view all (2008) Evaluation of Intergrated (F-18)fluoro-DOPA-PET/CT for identification of focal forms of congenital hyperinsulinism (CHI). European Journal of Pediatrics , 167 (3) 363 - 363.

Bryan, SM; Hindmarsh, PC; Sally, TC; (2008) Transgenerational effects on blood pressure in children. HORM RES , 70 26 - 26.


Cardoso, S; Odriozola, A; Valverde, L; de Pancorbo, MM; Etxeberria, F; Alfonso-Sánchez, MA; ... Sarasola, E; + view all (2008) Contribution of forensic genetics to the recovery of historic memory of the Spanish Civil War. Forensic Science International: Genetics Supplement Series , 1 (1) 454 - 456. 10.1016/j.fsigss.2007.11.008.

Cardoso, S; Valverde, L; Odriozola, A; de Pancorbo, MM; Alfonso-Sánchez, MA; Pérez-Miranda, AM; ... Martínez-Jarreta, B; + view all (2008) Mitochondrial DNA in Huaorani (Ecuadorian amerindians): A new variant in haplogroup A2. Forensic Science International: Genetics Supplement Series , 1 (1) 269 - 270. 10.1016/j.fsigss.2007.11.003.

Chen, R; Hussain, K; Al-Ali, M; Dattani, MT; Hindmarsh, P; Jones, PM; Marsh, P; (2008) Neonatal and late-onset diabetes mellitus caused by failure of pancreatic development: Report of 4 more cases and a review of the literature. PEDIATRICS , 121 (6) E1541 - E1547. 10.1542/peds.2007-3543.

Christesen, HBT; Tribble, ND; Molven, A; Siddiqi, J; Sandal, T; Brusgaard, K; ... Gloyn, AL; + view all (2008) Congenital Hyperinsullnism: Prevalence Prevalence of activating glucokinase mutations and a novel mutation. HORM RES , 70 41 - 41.

Christie, D; Romano, GM; Thompson, R; Viner, RM; Hindmarsh, PC; (2008) Attitudes to psychological groups in a paediatric and adolescent diabetes service - implications for service delivery. PEDIATR DIABETES , 9 (4) 388 - 392. 10.1111/j.1399-5448.2008.00382.x.

Cole, TJ; Power, C; Moore, GE; (2008) Intergenerational obesity involves both the father and the mother. AM J CLIN NUTR , 87 (5) 1535 - 1536.


Deeb, A; Jaaskelainen, J; Dattani, M; Whitaker, HC; Costigan, C; Hughes, IA; (2008) A novel mutation in the human androgen receptor suggests a regulatory role for the hinge region in amino-terminal and carboxy-terminal interactions. J CLIN ENDOCR METAB , 93 (10) 3691 - 3696. 10.1210/jc.2008-0737.

Dowden, S; Webster, R; Preece, MA; Gissen, P; (2008) Developments of a succinylacetone method for use a potential newborn screening tests for tyrosinaemia type I. J INHERIT METAB DIS , 31 5 - 5.

Duncan, AJ; Sweeney, MG; Stern, E; Taylor, R; Woodward, C; Davis, MB; ... Rahman, S; + view all (2008) Comparative human mitochondrial genome analysis using the affymetrix Mitochip v2 and conventional cycle sequencing. In: NEUROMUSCULAR DISORDERS. (pp. 755 - 756). PERGAMON-ELSEVIER SCIENCE LTD


Ebberink, MS; Denis, S; Mooijer, PAW; Dekker, CJM; Clayton, PT; Wanders, RJA; ... Ferdinandusse, S; + view all (2008) Identification of three PEX16-defective patients with import competent peroxisomes in fibroblasts. J INHERIT METAB DIS , 31 68 - 68.

Elder, CJ; Barton, JS; Brook, CGD; Preece, A; Dattani, MT; Hindmarsh, PC; (2008) A randomised study of the effect of two doses of biosynthetic human growth hormone on final height of children with familial short stature. HORM RES , 70 (2) 89 - 92. 10.1159/000139150.


Ferraz-de-Souza, B; Achermann, JC; (2008) Disorders of adrenal development. Endocr Dev , 13 19 - 32. 10.1159/000134753.

Ferraz-de-Souza, B; Lin, L; Achermann, JC; (2008) Adrenals. In: Carel, JC and Hochberg, Z, (eds.) Yearbook of pediatric endocrinology 2008. (95 - 108). Karger: Basel.

Fluck, CE; Achermann, JC; Miller, WL; (2008) Disorders of the adrenal cortex. In: Sperling, MA, (ed.) Pediatric endocrinology. (444 - 511). Elsevier: Philadelphia.

Frade, J; Pope, S; Schmidt, M; Dringen, R; Barbosa, R; Pocock, J; ... Heales, S; + view all (2008) Glutamate induces release of glutathione from cultured rat astrocytes - a possible neuroprotective mechanism? J NEUROCHEM , 105 (4) 1144 - 1152. 10.1111/j.1471-4159.2008.05216.x.


Heptinstall, LE; Walter, JH; Morris, AAM; Jones, SA; Rahman, S; Besley, GTN; (2008) Mutation studies in patients with pyruvate carboxylase deficiency. In: JOURNAL OF INHERITED METABOLIC DISEASE. (pp. 56 - 56).

Hindmarsh, PC; Geary, MPP; Rodeck, CH; Kingdom, JCP; Cole, TJ; (2008) Factors predicting ante- and postnatal growth. PEDIATR RES , 63 (1) 99 - 102.

Honour, JW; Bridges, NA; Conway-Phillips, E; Hindmarsh, PC; (2008) Plasma aldosterone response to the low-dose adrenocorticotrophin (ACTH 1-24) stimulation test. CLIN ENDOCRINOL , 68 (2) 299 - 303. 10.1111/j.1365-2265.2007.03041.x.

Hsia, YF; Neubert, AC; Rani, F; Viner, RM; Hindmarsh, PC; Wong, ICK; (2008) An increase in the prevalence of type 1 and 2 diabetes in children and adolescents: A population-based study in the UK. PHARMACOEPIDEM DR S , 17 S140 - S141.

Hunter, SJ; Goodall, TI; Walsh, KA; Owen, R; Day, JC; (2008) Non-Destructive DNA extraction from blackflies (Diptera: Simuliidae): retaining voucher specimens for DNA barcoding projects. Molecular Ecology Resources , 8 (1) 56 - 61. 10.1111/j.1471-8286.2007.01879.x.

Hussain, K; Flanagan, SE; Smith, VV; Ashworth, M; Day, M; Pierro, A; Ellard, S; (2008) An ABCC8 gene mutation and mosaic uniparental isodisomy resulting in atypical diffuse congenital hyperinsulinism. DIABETES , 57 (1) 259 - 263.


Kapoor, RR; Gilbert, C; Mohnike, K; Blankenstein, O; Fuechtner, F; Hussain, K; (2008) Congenital hyperinsulinism: [F-18]DOPA PET/CT scan of a focal lesion in the head of the pancreas. ARCH DIS CHILD-FETAL , 93 (2) F166 - F166. 10.1136/adc.2007.121178.

Kelberman, D; (2008) Inborn errors of development. In: Epstein, CJ and Erickson, RP and Wynshaw-Boris, A, (eds.) Inborn errors of development. (901 - 906). Oxford University Press, USA

Kelberman, D; Dattani, MT; (2008) Septo-optic dysplasia - Novel insights into the aetiology. HORM RES , 69 (5) 257 - 265. 10.1159/000114856.

Kelberman, D; Dattani, MT; (2008) Inborn errors of development. In: Epstein, CJ and Erickson, RP and Wynshaw-Boris, A, (eds.) Inborn errors of development. (697 - 709). Oxford University Press, USA

Kim, CJ; Lin, L; Huang, NW; Quigley, CA; AvRuskin, TW; Achermann, JC; Miller, WL; (2008) Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc. The Journal of Clinical Endocrinology & Metabolism , 93 (3) 696 - 702. 10.1210/jc.2007-2330. Green open access

Kinsler, V; (2008) Neurological complications of congenital melanocytic nevi. European Journal of Pediatric Dermatology , 18 (2) 94 - 96.

Kinsler, V; (2008) New aspects of congenital melanocytic nevi. European Journal of Pediatric Dermatology , 18 (2) 92 - 93.

Kinsler, VA; Chong, WK; Aylett, SE; Atherton, DJ; (2008) Complications of congenital melanocytic naevi in children: analysis of 16 years' experience and clinical practice. Br J Dermatol , 159 (4) 907 - 914. 10.1111/j.1365-2133.2008.08775.x.


Laguda, B; Hussain, K; Hennekam, R; Fowler, D; Dattani, M; Harper, JI; (2008) A unique skin presentation associated with insulin-resistant diabetes. In: BRITISH JOURNAL OF DERMATOLOGY. (pp. 1238 - 1238). BLACKWELL PUBLISHING


Manson, JJ; Mills, K; D'Cruz, D; Saleem, M; Isenberg, DA; Rahman, A; (2008) Exposure of podocytes to immunoglobulin g from patients with lupus nephritis causes dephosphorylation of tubulin. In: RHEUMATOLOGY. (pp. II94 - II94). OXFORD UNIV PRESS

Menheniott, TR; Woodfine, K; Schulz, R; Wood, AJ; Monk, D; Giraud, AS; ... Oakey, RJ; + view all (2008) Genomic imprinting of Dopa decarboxylase in heart and reciprocal allelic expression with neighboring Grb10. MOL CELL BIOL , 28 (1) 386 - 396. 10.1128/MCB.00862-07.

Middleton, A; Emery, S; Turner, GH; Clarke, A; Sarangi, S; Bitner-Glindzicz, M; ... Stephens, D; + view all (2008) Why don't deaf people come for genetic counselling? Quantitative and qualitative findings from a UK study. In: JOURNAL OF MEDICAL GENETICS. (pp. S103 - S103). B M J PUBLISHING GROUP

Monk, D; Wagschal, A; Arnaud, P; Iglelias-Platas, I; Muller, P; Parker-Katiraee, L; ... Moore, GE; + view all (2008) Evolutionary comparison of epigenetic profiles at large imprinted domains reveal differing mechanisms of allelic silencing. In: CELLULAR ONCOLOGY. (pp. 227 - 227). IOS PRESS

Monk, D; Wagschal, A; Arnaud, P; Muller, PS; Parker-Katiraee, L; Bourc'his, D; ... Moore, GE; + view all (2008) Comparative analysis of human chromosome 7q21 and mouse proximal chromosome 6 reveals a placental-specific imprinted gene, TFPI2/Tfpi2, which requires EHMT2 and EED for allelic-silencing. GENOME RES , 18 (8) 1270 - 1281. 10.1101/gr.077115.108. Gold open access

Mullany, P; Hunter, S; Allan, E; (2008) Metagenomics of dental biofilms. ADV APPL MICROBIOL , 64 125 - 136. 10.1016/S0065-2164(08)00404-8.


Palermo, M; Marazzi, MG; Hughes, BA; Stewart, PM; Clayton, PT; Shackleton, CHL; (2008) Human Delta(4)-3-oxosteroid 5 beta-reductase (AKR1D1) deficiency and steroid metabolism. STEROIDS , 73 (4) 417 - 423. 10.1016/j.steroids.2007.12.001.

Parker-Katiraee, L; Bousiaki, E; Monk, D; Moore, GE; Nakabayashi, K; Scherer, SW; (2008) Dynamic variation in allele-specific gene expression of Paraoxonase-1 in murine and human tissues. Hum.Mol.Genet. , 17 (21) 3263 - 3270.

Pembrey, M; (2008) Human inheritance, differences and diseases: putting genes in their place. Part I. Paediatric and Perinatal Epidemiology , 22 (5) 497 - 504.

Petkovic, V; Godi, M; Lochmatter, D; Turton, J; Alatzoglou, S; Dattani, M; ... Mullis, P; + view all (2008) A novel mutation in GH molecule (GH-R178H) affecting the correct Zn2+-induced dimerization and condensation in secretory granules presented in a patient with GH deficiency. HORM RES , 70 32 - 32.

Pinteaux-Jones, F; Sevastou, IG; Fry, VAH; Heales, S; Baker, D; Pocock, JM; (2008) Myelin-induced microglial neurotoxicity can be controlled by microglial metabotropic glutamate receptors. Journal of Neurochemistry , 106 (1) 442 - 454. 10.1111/j.1471-4159.2008.05426.x.

Pope, S; Land, JM; Heales, SJR; (2008) Oxidative stress and mitochondrial dysfunction in neurodegeneration; cardiolipin a critical target? BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS , 1777 (7-8) 794 - 799. 10.1016/j.bbabio.2008.03.011.


Rahman, S; (2008) Recent advances in mitochondrial medicine. In: The Year in Neurology 2008. (77 - 92). Clinical Publishing

Rajab, A; Kelberman, D; de Castro, SCP; Biebermann, H; Shaikh, H; Pearce, K; ... Dattani, MT; + view all (2008) Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss. HUM MOL GENET , 17 (14) 2150 - 2159. 10.1093/hmg/ddn114.


Sajedi, E; Gaston-Massuet, C; Andoniadou, CL; Signore, M; Hurd, PJ; Dattani, M; Martinez-Barbera, JP; (2008) DNMT1 interacts with the developmental transcriptional repressor HESX1. BBA-MOL CELL RES , 1783 (1) 131 - 143. 10.1016/j.bbamcr.2007.08.010. Gold open access

Sajedi, E; Gaston-Massuet, C; Signore, M; Andoniadou, CL; Kelberman, D; Castro, S; ... Martinez-Barbera, JP; + view all (2008) Analysis of mouse models carrying the 126T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism. DIS MODEL MECH , 1 (4-5) 241 - 254. 10.1242/dmm.000711. Gold open access

Samuel, JM; Kelberman, D; Smith, AJP; Humphries, SE; Woo, P; (2008) Identification of a novel regulatory region in the interleukin-6 gene promoter. CYTOKINE , 42 (2) 256 - 264. 10.1016/j.cyto.2008.02.008.

Shaikh, MG; Boyes, L; Kingston, H; Collins, R; Besley, GTN; Padmakumar, B; ... Clayton, PE; + view all (2008) Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita. J MED GENET , 45 (9) , Article e1. 10.1136/jmg.2007.055129.

Stanyer, L; Jorgensen, W; Hori, O; Clark, JB; Heales, SJR; (2008) Inactivation of brain mitochondrial Lon protease by peroxynitrite precedes electron transport chain dysfunction. Neurochemistry International , 53 (3-4) 95 - 101. 10.1016/j.neuint.2008.06.004.


Taylor, R; Fratter, C; Sweeney, MG; Poulton, J; Brown, GK; Rahman, S; ... Turnbull, DM; + view all (2008) The NCG Service for Rare Mitochondrial Disorders of Adults and Children: a clinical and molecular genetics perspective. In: JOURNAL OF MEDICAL GENETICS. (pp. S83 - S83). B M J PUBLISHING GROUP

Taylor, R; Stewart, JD; Tennant, S; Powell, H; Pyle, A; Hudson, G; ... Chinnery, PF; + view all (2008) Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children. In: JOURNAL OF MEDICAL GENETICS. (pp. S83 - S83).

Thomas, AC; Sinclair, C; Cullup, T; Kelsell, D; (2008) Novel and recurring ABCA12 mutations associated with Harlequin Ichthyosis: implications for prenatal diagnosis. British Journal of Dermatology

Tysoe, C; Law, CJ; Caswell, R; Clayton, P; Ellard, S; (2008) Prenatal testing for a novel EBP missense mutation causing X-linked dominant chondrodysplasia punctata. PRENATAL DIAGNOSIS , 28 (5) 384 - 388. 10.1002/pd.1980.

Tziaferi, V; Kelberman, D; Dattani, MT; (2008) The Role of SOX2 in Hypogonadotropic Hypogonadism. SEX DEV , 2 (4-5) 194 - 199. 10.1159/000152035.


van de Bunt, M; Edghill, EL; Hussain, K; Ellard, S; Gloyn, AL; (2008) Gene duplications resulting in over expression of glucokinase are not a common cause of hypoglycaemia of infancy in humans. Molecular Genetics and Metabolism , 94 (2) 268 - 269. 10.1016/j.ymgme.2008.01.008.

Vijayakumar, K; Prabhakar, P; Ganesan, V; Worthington, V; Jackson, M; Mills, P; ... Grunewald, S; + view all (2008) Congenital disorders of glycosylation presenting with neuro-regression. J INHERIT METAB DIS , 31 49 - 49.


Wamelink, MM; Struys, EA; Salomons, GS; Fowler, D; Jakobs, C; Clayton, PT; (2008) Transaldolase deficiency in a two-year-old boy with cirrhosis. MOL GENET METAB , 94 (2) 255 - 258. 10.1016/j.ymgme.2008.01.011.

This list was generated on Sun Jul 27 09:35:50 2014 BST.