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Number of items: 115.

A

Achermann, JC (2005) The role of SF1/DAX1 in adrenal and reproductive function. ANNALES D ENDOCRINOLOGIE , 66 (3) 233 - 239.

Achermann, JC (2005) Development of the reproductive systems. In: Brook, CG and Clayton, PE and Brown, R, (eds.) Clinical pediatric endocrinology. (153 - 170). Blackwell: Oxford.

Alexander, S and Ramadan, D and Alkhayyat, H and Al-Sharkawi, I and Backer, KCA and El-Sabban, F and Hussain, K (2005) Costello Syndrome and hyperinsulinemic hypoglycemia. AM J MED GENET A , 139A (3) 227 - 230. 10.1002/ajmg.a.31011.

Aligianis, I and Johnson, CA and Morgan, NV and Gissen, P and Chen, D and Hampshire, D and Hoffmann, K and Morton, J and Ainsworth, JR and Pilz, D and Stoodley, N and Mundlos, S and Tannahill, D and Woods, CG and Maher, ER (2005) Molecular genetics of WarburgMicro syndrome (microphthalmia, cataract, microcephaly and micropenis). In: JOURNAL OF MEDICAL GENETICS. (pp. S29 - S29). B M J PUBLISHING GROUP

Aligianis, IA and Johnson, CA and Gissen, P and Chen, D and Hampshire, D and Hoffmann, K and Maina, EN and Morgan, NV and Tee, L and Morton, J and Ainsworth, JR and Horn, D and Rosser, E and Cole, TRP and Stolte-Dijkstra, I and Fieggen, K and Clayton-Smith, J and Mégarbané, A and Shield, JP and Newbury-Ecob, R and Dobyns, WB and Graham Jr, JM and Kjaer, KW and Warburg, M and Bond, J and Trembath, RC and Harris, LW and Takai, Y and Mundlos, S and Tannahill, D and Woods, CG and Maher, ER (2005) Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. Nature Genetics , 37 (3) 221 - 223.

Amin, R and Bahu, TK and Widmer, B and Dalton, RN and Dunger, DB (2005) Longitudinal relation between limited joint mobility, height, insulin-like growth factor 1 levels, and risk of developing microalbuminuria: the Oxford Regional Prospective Study. Arch Dis Child , 90 (10) 1039 - 1044. 10.1136/adc.2004.067272.

Amin, R and Turner, C and van Aken, S and Bahu, TK and Watts, A and Lindsell, DR and Dalton, RN and Dunger, DB (2005) The relationship between microalbuminuria and glomerular filtration rate in young type 1 diabetic subjects: The Oxford Regional Prospective Study. Kidney Int , 68 (4) 1740 - 1749. 10.1111/j.1523-1755.2005.00590.x.

Amin, R and Williams, RM and Frystyk, J and Umpleby, M and Matthews, D and Orskov, H and Dalton, RN and Dunger, DB (2005) Increasing urine albumin excretion is associated with growth hormone hypersecretion and reduced clearance of insulin in adolescents and young adults with type 1 diabetes: the Oxford Regional Prospective Study. Clin Endocrinol (Oxf) , 62 (2) 137 - 144. 10.1111/j.1365-2265.2005.02185.x.

B

Bhuiyan, Z.A. and Klein, M. and Hammond, P. and van Haeringen, A. and Mannens, M.M.A.M. and Van Berckelaer-Onnes, I. and Hennekam, R.C.M. (2005) Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience. Journal of Medical Genetics , 43 (7) pp. 568-575. 10.1136/jmg.2005.038240.

Bohlega, S and Abu-Amero, SN and Wakil, SM and Carroll, P and Al-Amr, R and Lach, B and Al-Sayed, Y and Cupler, EJ and B, F (2005) Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy. Neurology , 62 (9) 1518 - 1521.

C

Cameron, N. and Preece, M.A. and Cole, T.J. (2005) Catch-up growth or regression to the mean? Recovery from stunting revisited. American Journal of Human Biology , 17 (4) pp. 412-417. 10.1002/ajhb.20408.

Cardoso, ML and Balreira, A and Martins, E and Nunes, L and Cabral, A and Marques, M and Lima, MR and Marques, JS and Medeira, A and Cordeiro, I and Pedro, S and Mota, MC and Dionisi-Vici, C and Santorelli, FM and Jakobs, C and Clayton, PT and Vilarinho, L (2005) Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7. MOL GENET METAB , 85 (3) 228 - 235. 10.1016/j.ymgme.2005.02.009.

Cardoso, ML and Fortuna, AM and Castedo, S and Martins, M and Montenegro, N and Jakobsll, C and Clayton, P and Vilarinho, L (2005) Prenatal diagnosis of Smith-Lemli-Opitz syndrome | Diagnóstico pré-natal de síndrome de Smith-Lemli-Opitz. Arquivos de Medicina , 19 (1-2) 23 - 27+81.

Cheema, U and Brown, R and Mudera, V and Yang, SY and McGrouther, G and Goldspink, G (2005) Mechanical signals and IGF-I gene splicing in vitro in relation to development of skeletal muscle. WILEY-LISS

Chen, R and Hussain, K and Dattani, MT and Al Ali, M and Persaud, SJ and Jones, PM and Marsh, PJ (2005) Neonatal diabetes mellitus: understanding the molecular basis of human pancreas development. Diabetologia , 48 A68 - A68.

Chow, SL and Rooney, ZJ and Cleary, MA and Clayton, PT and Leonard, JV (2005) The significance of elevated CSF lactate. ARCH DIS CHILD , 90 (11) 1188 - 1189. 10.1136/adc.2005.075317.

Common, JEA and Bitner-Glindzicz, M and O'Toole, EA and Barnes, MR and Jenkins, L and Forge, A and Kelsell, DP (2005) Specific loss of connexin 26 expression in ductal sweat gland epithelium associated with the deletion mutation del(GJB6-D13S1830). CLIN EXP DERMATOL , 30 (6) 688 - 693. 10.1111/j.1365-2230.2005.01878.x.

Common, JEA and O'Toole, EA and Leigh, IM and Thomas, AC (2005) Clinical and genetic heterogeneity of erythrokeratoderma variabilis. Journal of Investigative Dermatology

Cortes, E and te Fong, LFW and Hameed, M and Harridge, S and Maclean, A and Yang, SY and Reid, WM and Goldspink, G (2005) Insulin-like growth factor-1 gene splice variants as markers of muscle damage in levator ani muscle after the first vaginal delivery. AM J OBSTET GYNECOL , 193 (1) 64 - 70. 10.1016/j.ajog.2004.12.088.

D

Dattani, MT (2005) Growth hormone deficiency and combined pituitary hormone deficiency: Does the genotype matter? Clinical Endocrinology , 63 (2) 121 - 130.

Dattani, MT (2005) Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter? CLIN ENDOCRINOL , 63 (2) 121 - 130. 10.1111/j.1365-2265.2005.02289.x.

Doudney, K and Moore, GE and Stanier, P and Ybot-Gonzalez, P and Paternotte, C and Greene, NDE and Copp, AJ and Stevenson, RE (2005) Analysis of the planar cell polarity gene VANGL2 and its co-expressed paralogue VANGL1 in neural tube defect patients. AM J MED GENET A , 136A (1) 90 - 92. 10.1002/ajmg.a.30766.

Doudney, K and Moore, GE and Stanier, P and Ybot-Gonzalez, P and Paternotte, C and Greene, NDE and Copp, AJ and Stevenson, RE (2005) Analysis of the planar cell polarity gene Vangl2 and its, co-expressed paralog Vangl1 in neural tube defect patients (vol 136A, pg 90, 2005). AM J MED GENET A , 138A (4) 415 - 415. 10.1002/ajmg.a.30931.

Doudney, K and Moore, GE and Stanier, P and Ybot-Gonzalez, P and Paternotte, C and Greene, NDE and Copp, AJ and Stevenson, RE (2005) Erratum: Analysis of the planar cell polarity gene Vangl2 and its co-expressed paralog Vangl1 in neural tube defect patients (American Journal of Genetics (2005) 136A (90-92) DOI: 10.1002/ajmg.a.30766). American Journal of Medical Genetics , 138 A (4) 415 - 415.

Dua, T and Sharma, J and Singhal, T and Arya, VB (2005) Hereditary sensory autonomic neuropathy type IV. INDIAN PEDIATRICS , 42 (3) 281 - 284.
An open access publication

DUNCAN, A and Heales, SJ (2005) Nitric oxide and neurological disorders. Mol Aspects Med , 26 (1-2) 67 - 96.

Duncan, AJ and Heales, SJ (2005) Nitric oxide and neurological disorders. Mol Aspects Med , 26 (1-2) 67 - 96. 10.1016/j.mam.2004.09.004.

Duncan, AJ and Heales, SJR and Mills, K and Eaton, S and Land, JM and Hargreaves, IP (2005) Determination of coenzyme Q(10) status in blood mononuclear cells, skeletal muscle, and plasma by HPLC with Di-propoxy-coenzyme Q(10) as an internal standard. CLIN CHEM , 51 (12) 2380 - 2382. 10.1373/clinchem.2005.054643.
An open access version is available from UCL Discovery
 file

E

Elpeleg, O and Miller, C and Hershkovitz, E and Bitner-Glindzicz, M and Bondi-Rubenstein, G and Rahman, S and Pagnamenta, A and Eshhar, S and Saada, A (2005) Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. AM J HUM GENET , 76 (6) 1081 - 1086.

F

Fluck, CE and Maret, A and Mallet, D and Portrat-Doyen, S and Achermann, JC and Leheup, B and Theintz, GE and Mullis, PE and Morel, Y (2005) A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of swiss ancestry with congenital lipoid adrenal hyperplasia. J CLIN ENDOCR METAB , 90 (9) 5304 - 5308. 10.1210/jc.205-0847.

G

Gachet, Y. and Codlin, S. and Hyams, J.S. and Mole, S.E. (2005) btn1, the schizosaccharomyces pombe homologue of the human batten disease gene CLN3, regulates vacuole homeostasis. Journal of Cell Science , 118 (23) pp. 5525-5536. 10.1242/jcs.02656.

Gavriel, G and Modi, N and Stanier, P and Moore, GE (2005) Neonatal buccal cell collection for DNA analysis. ARCH DIS CHILD , 90 (2) F187 - F187. 10.1136/adc.2004.062661.

Gavriel, G and Modi, N and Stanier, P and Moore, GE (2005) Neonatal buccal cell collection for DNA analysis. ARCH DIS CHILD-FETAL , 90 (2) 187 - 187. 10.1136/adc.2004.062661.

Gegg, ME and Clark, JB and Heales, SJ (2005) Co-culture of neurones with glutathione deficient astrocytes leads to increased neuronal susceptibility to nitric oxide and increased glutamate-cysteine ligase activity. Brain Research , 1036 (1-2) 1 - 6.

Gegg, ME and Clark, JB and Heales, SJR (2005) Co-culture of neurones with glutathione deficient astrocytes leads to increased neuronal susceptibility to nitric oxide and increased glutamate-cysteine ligase activity. BRAIN RES , 1036 (1-2) 1 - 6. 10.1016/j.brainres.2004.11.064.

Gissen, P and Johnson, CA and Gentle, D and Hurst, LD and Doherty, AJ and O'Kane, CJ and Kelly, DA and Maher, ER (2005) Comparative evolutionary analysis of VPS33 homologues: genetic and functional insights. HUM MOL GENET , 14 (10) 1261 - 1270. 10.1093/hmg/ddi137.

Goldspink, G and Yang, SY and Hameed, M and Harridge, S and Bouloux, P (2005) The role of MGF and Other IGF-I Splice Variants in Muslce Maintenance and Hypertrophy. In: Kraemer, WJ and Rogol, AD, (eds.) The endocrine system in sports and exercise. (180 - 193). Wiley-Blackwell

H

Hammond, P. and Hutton, T.J. and Allanson, J.E. and Buxton, B. and Campbell, L.E. and Clayton-Smith, J. and Donnai, D. and Karmiloff-Smith, A. and Metcalfe, K. and Murphy, K.C. and Patton, M. and Pober, B. and Prescott, K. and Scambler, P. and Shaw, A. and Smith, A.C.M. and Stevens, A.F. and Temple, I.K. and Hennekam, R. and Tassabehji, M. (2005) Discriminating power of localized three-dimensional facial morphology. The American Journal of Human Genetics , 77 (6) pp. 999-1010. 10.1086/498396.

Hargreaves, IP and Duncan, A and Mills, K and Eaton, S and Land, JM and Heales, SJR (2005) Blood mononuclear cell, but not plasma coenzyme Q(10) concentration correlates with skeletal muscle levels: implications for diagnosis and treatment. In: JOURNAL OF THE NEUROLOGICAL SCIENCES. (pp. S170 - S171). ELSEVIER SCIENCE BV

Hargreaves, IP and Duncan, AJ and Heales, SJR and Land, JM (2005) The effect of HMG-CoA reductase inhibitors on coenzyme Q10 - Possible biochemical/clinical implications. DRUG SAFETY , 28 (8) 659 - 676.

Hargreaves, IP and Duncan, AJ and Wu, L and Agrawal, A and Land, JM and Heales, SJR (2005) INHIBITION OF MITOCHONDRIAL COMPLEX IV LEADS TO SECONDARY LOSS COMPLEX II-III ACTIVITY: IMPLICATIONS FOR THE PATHOGENESIS AND TREATMENT OF MITOCHONDRIAL CYTOPATHIES. J INHERIT METAB DIS , 28 137 - 137.

Hargreaves, IP and Sheena, Y and Land, JM and Heales, SJR (2005) Glutathione deficiency in patients with mitochondrial disease: Implications for pathogenesis and treatment. J INHERIT METAB DIS , 28 (1) 81 - 88.

Head, RA and Brown, RM and Zolkipli, Z and Shahdadpuri, R and King, MD and Clayton, PT and Brown, GK (2005) Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: Dihydrolipoamide acetyltransferase (E2) deficiency. ANN NEUROL , 58 (2) 234 - 241. 10.1002/ana.20550.

Heales, SJR and Foxton, RH and Canevari, LC and Alp, NJ and Channon, KM (2005) Correction of tetrahydrobiopterin deficiency - Implications for dopa responsive dystonia and other inherited disorders of tetrahydrobiopterin metabolism. In: JOURNAL OF THE NEUROLOGICAL SCIENCES. (pp. S322 - S322). ELSEVIER SCIENCE BV

Hindmarsh, PC (2005) Testing times for the hypothalamo-pituitary-adrenal axis. J PEDIATR ENDOCR MET , 18 (5) 431 - 432.

Hindmarsh, PC (2005) The impact of hormone physiology on clinical practice with reference to two papers spanning 40 years of endocrinology. ARCH DIS CHILD , 90 (11) 1144 - 1147. 10.1136/adc.2004.069682.
An open access publication

Hiort, O and Holterhus, PM and Werner, R and Marschke, C and Hoppe, U and Partsch, CJ and Riepe, FG and Achermann, JC and Struve, D (2005) Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure. J CLIN ENDOCR METAB , 90 (1) 538 - 541. 10.1210/jc.2004-1059.

Hitchins, MP and Rickard, S and Dhalla, F and de Vries, BB and Winter, R and Pembrey, ME and Malcolm, S (2005) Investigation of UBE3A and MECP2 in Angelman syndrome (AS) and patients with features of AS (Am J Med Genet 125A: 167-172). AM J MED GENET A , 135 (3) 346 - ?.

Hussain, K (2005) Congenital hyperinsulinism. SEMIN FETAL NEONAT M , 10 (4) 369 - 376. 10.1016/j.siny.2005.03.001.

Hussain, K (2005) Ketotic hypoglycaemia in children with diazoxide responsive hyperinsulinism of infancy. EUR J PEDIATR , 164 (6) 387 - 390. 10.1007/s00431-005-1654-7.

Hussain, K and Bryan, J and Christesen, HT and Brusgaard, K and Aguilar-Bryan, L (2005) Serum glucagon counterregulatory hormonal response to hypoglycemia is blunted in congenital hyperinsulinism. DIABETES , 54 (10) 2946 - 2951.

Hussain, K and Clayton, PT and Krywawych, S and Chatziandreou, I and Mills, P and Ginbey, DW and Geboers, AJJM and Berger, R and Van den Berg, IET and Eaton, S (2005) Hyperinsulinism of infancy associated with a novel splice site mutation in the SCHAD gene. J PEDIATR , 146 (5) 706 - 708. 10.1016/j.jpeds.2005.01.032.

Hussain, K and Clayton, PT and Krywawych, S and Chatziandreou, I and Mills, P and Ginbey, DW and Geboers, AJJM and Berger, R and van den Berg, IET and Eaton, S (2005) Hyperinsulinism of infancy associated with a novel splice site mutation in the short-chain 3-hydroxyacyl-CoA dehydrogenase gene. The Journal of Pediatrics , 146 (5) 706 - 708.

Hussain, K and Cosgrove, KE (2005) From congenital hyperinsulinism to diabetes mellitus: the role of pancreatic beta-cell K-ATP channels. PEDIATR DIABETES , 6 (2) 103 - 113.

Hussain, K and Cosgrove, KE and Shepherd, RM and Luharia, A and Smith, VV and Kassem, S and Gregory, JW and Sivaprasadarao, A and Christesen, HT and Jacobsen, BB and Brusgaard, K and Glaser, B and Maher, EA and Lindley, KJ and Hindmarsh, P and Dattani, M and Dunne, MJ (2005) Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann syndrome due to defects in the function of pancreatic beta-cell adenosine triphosphate-sensitive potassium channels. J CLIN ENDOCR METAB , 90 (7) 4376 - 4382. 10.1210/jc.2005-0158.

Hutchin, T and Coy, NN and Conlon, H and Telford, E and Bromelow, K and Blaydon, D and Taylor, G and Coghill, E and Brown, S and Trembath, R and Liu, XZ and Bitner-Glindzicz, M and Mueller, R (2005) Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing. CLIN GENET , 68 (6) 506 - 512. 10.1111/j.1399-0004.2005.00539.x.

J

Jackson, M and Clayton, P and Grunewald, S and Keir, G and Mills, K and Mills, P and Winchester, B and Worthington, V and Young, E (2005) Elevation of plasma aspartylglucosaminidase is a useful marker for the congenital disorders of glycosylation type I (CDG I). J INHERIT METAB DIS , 28 (6) 1197 - 1198. 10.1007/s10545-005-0157-z.

Jacobson, J and Duchen, MR and Hothersall, J and Clark, JB and Heales, SJR (2005) Induction of mitochondrial oxidative stress in astrocytes by nitric oxide precedes disruption of energy metabolism. J NEUROCHEM , 95 (2) 388 - 395. 10.1111/j.1471-4159.2005.03374.x.

Jenkins, D and Bitner-Glindzicz, M and Malcolm, S and Hu, CCA and Allison, J and Winyard, PJD and Gullett, AM and Thomas, DFM and Belk, RA and Feather, SA and Sun, TT and Woolf, AS (2005) De novo UPIIIa mutations cause human urinary tract malformations which lead to severe renal failure. In: GENETICAL RESEARCH. (pp. 240 - 240). CAMBRIDGE UNIV PRESS

Jenkins, D and Bitner-Glindzicz, M and Malcolm, S and Hu, CCA and Allison, J and Winyard, PJD and Gullett, AM and Thomas, DFM and Belk, RA and Feather, SA and Sun, TT and Woolf, AS (2005) De Novo Uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failure. J AM SOC NEPHROL , 16 (7) 2141 - 2149.

Jenkins, S and Saihan, Z and Haralambous, E and Waseem, N and Bhattacharya, SS and Moore, AT and Bitner-Glindzicz, M and Webster, AR (2005) Significance of the usherin Cys759Phe substitution in non-syndromic retinal dystrophy in the UK. In: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. (pp. ? - ?). ASSOC RESEARCH VISION OPHTHALMOLOGY INC

Joffe, TH and Tarantal, AF and Rice, K and Leland, M and Oerke, AK and Rodeck, C and Geary, M and Hindmarsh, P and Wells, JCK and Aiello, LC (2005) Fetal and infant head circumference sexual dimorphism in primates. AM J PHYS ANTHROPOL , 126 (1) 97 - 110. 10.1002/ajpa.20035.

K

Kinsler, VA and Hawk, JLM and Atherton, DJ (2005) Diffuse cutaneous mastocytosis treated with psoralen photochemotherapy: case report and review of the literature. British Journal of Dermatology , 152 (1) 179 - 180.

Kitagawa, T and Ishige, N and Suzuki, K and Owada, M and Ohashi, T and Kobayashi, M and Eto, Y and Tanaka, A and Mills, K and Winchester, B and Keutzer, J (2005) Non-invasive screening method for Fabry disease by measuring globotriaosylceramide in whole urine samples using tandem mass spectrometry. MOL GENET METAB , 85 (3) 196 - 202. 10.1016/j.ymgme.2005.01.007.

Kurtoǧlu, S and Akcakus, M and Keskin, M and Ozcan, A and Hussain, K (2005) Severe hyperinsulinaemic hypoglycaemia in a baby born to a mother taking oral ritodrine therapy for preterm labour. Hormone Research , 64 (2) 61 - 63.

L

Lin, L and Woodruff, TK and Achermann, JC (2005) Reproductive Endocrinology. In: Carel, JC and Hochberg, Z, (eds.) Yearbook of pediatric endocrinology 2005. (89 - 106). Karger: Basel.

Lo, B and Li, L and Gissen, P and Christensen, H and McKiernan, PJ and Ye, C and Abdelhaleem, M and Hayes, JA and Williams, MD and Chitayat, D and Kahr, WHA (2005) Requirement of VPS33B, a member of the Sec1/Munc18 protein family, in megakaryocyte and platelet alpha-granule biogenesis. BLOOD , 106 (13) 4159 - 4166. 10.1182/blood-2005-04-1356.

M

Matthews, RP and Plumb-Rudewiez, N and Lorent, K and Gissen, P and Johnson, CA and Lemaigre, F and Pack, M (2005) Zebrafish vps33b, an ortholog of the gene responsible for human arthrogryposis-renal dysfunction-cholestasis syndrome, regulates biliary development downstream of the onecut transcription factor hnf6. DEVELOPMENT , 132 (23) 5295 - 5306. 10.1242/dev.02140.

Mckoy, G and Hou, Y and Yang, SY and Avelaira, DV and Degens, H and Goldspink, G and Coulton, GR (2005) Expression of Ankrd2 in fast and slow muscles and its response to stretch are consistent with a role in slow muscle function. J APPL PHYSIOL , 98 (6) 2337 - 2343. 10.1152/japplphysiol.01046.2004.

Mehta, A and Hindmarsh, PC and Dattani, MT (2005) An update on the biochemical diagnosis of congenital ACTH insufficiency. CLIN ENDOCRINOL , 62 (3) 307 - 314. 10.1111/j.1365-2265.2005.02215.x.

Mehta, A and Hindmarsh, PC and Stanhope, RG and Turton, JPG and Cole, TJ and Preece, MA and Dattani, MT (2005) The role of growth hormone in determining birth size and early postnatal growth, using congenital growth hormone deficiency (GHD) as a model. CLIN ENDOCRINOL , 63 (2) 223 - 231. 10.1111/j.1365-2265.2005.02330.x.

Mills, K and Eaton, S and Ledger, V and Young, E and Winchester, B (2005) The synthesis of internal standards for the quantitative determination of sphingolipids by tandem mass spectrometry. RAPID COMMUN MASS SP , 19 (12) 1739 - 1748. 10.1002/rcm.1977.

Mills, K and Morris, P and Lee, P and Vellodi, A and Waldek, S and Young, E and Winchester, B (2005) Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease. J INHERIT METAB DIS , 28 (1) 35 - 48.

Mills, P.B. and Surtees, R.A.H. and Champion, M.P. and Beesley, C.E. and Dalton, N. and Scambler, P.J. and Heales, S.J.R. and Briddon, A. and Scheimberg, I. and Hoffmann, G.F. and Zschocke, J. and Clayton, P.T. (2005) Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase. Human Molecular Genetics , 14 (8) pp. 1077-1086. 10.1093/hmg/ddi120.

Mills, PB and Surtees, RAH and Champion, MP and Beesley, CE and Dalton, N and Scambler, PJ and Heales, SJR and Briddon, A and Scheimberg, I and Hoffmann, GF and Zschocke, J and Clayton, PT (2005) Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5 '-phosphate oxidase. HUM MOL GENET , 14 (8) 1077 - 1086. 10.1093/hmg/ddi120.

Munoz, A and Hu, M and Hussain, K and Bryan, J and Aguilar-Bryan, L and Rajan, AS (2005) Regulation of glucagon secretion at low glucose concentrations: Evidence for adenosine triphosphate sensitive potassium channel involvement. ENDOCRINOLOGY , 146 (12) 5514 - 5521. 10.1210/en2005-0637.

Murakami, T and Hosomi, N and Oiso, N and Giovannucci-Uzielli, ML and Aquaron, R and Mizoguchi, M and Kato, A and Ishii, M and Bitner-Glindzicz, M and Barnicoat, A and Wilson, L and Tsukamoto, K and Ueda, H and Mancini, AJ and Suzuki, T and Riley, J and Miertus, J and Camargo, M and Santoro-Zea, A and Atkin, J and Fukai, K (2005) Analysis of KIT, SCF, and initial screening of SLUG in patients with piebaldism. J INVEST DERMATOL , 124 (3) 670 - 672. 10.1111/j.0022-202X.2005.23637.x.

N

Nandi, M and Miller, A and Stidwill, R and Jacques, TS and Lam, AAJ and Haworth, S and Heales, S and Vallance, P (2005) Pulmonary hypertension in a GTP-cyclohydrolase 1-deficient mouse. CIRCULATION , 111 (16) 2086 - 2090. 10.1161/01.CIR.0000163268.32638.F4.

P

Pérez-Miranda, AM and Alfonso-Sánchez, MA and Peña, JA and de Pancorbo, MM and Herrera, RJ (2005) Genetic polymorphisms at 13 STR loci in autochthonous Basques from the province of Alava (Spain). Leg Med (Tokyo) , 7 (1) 58 - 61. 10.1016/j.legalmed.2004.08.001.

Pérez-Miranda, AM and Herrera, RJ (2005) Genetic data on 13 STR loci in the Andalusian (South Spain) population. Leg Med (Tokyo) , 7 (3) 201 - 203. 10.1016/j.legalmed.2004.10.004.

Perez-Miranda, AM and Alfonso-Sanchez, MA and Kalantar, A and Garcia-Obregon, S and de Pancorbo, MM and Pena, JA and Herrera, RJ (2005) Microsatellite data support subpopulation structuring among Basques. J HUM GENET , 50 (8) 403 - 414. 10.1007/s10038-005-0268-2.

Perez-Miranda, AM and Alfonso-Sanchez, MA and Kalantar, A and Pena, JA and de Pancorbo, MM and Herrera, RJ (2005) Allelic frequencies of 13 STR loci in autochthonous Basques from the province of Vizcaya (Spain). FORENSIC SCI INT , 152 (2-3) 259 - 262. 10.1016/j.forsciint.2004.09.118.

Petry, CJ and Ong, KK and Barratt, BJ and Wingate, D and Cordell, HJ and Ring, SM and Pembrey, ME and ALSPAC Study Team, The and Reik, W and Todd, JA and Dunger, DB (2005) Common polymorphism in H19 associated with birthweight and cord blood IGF-II levels in humans. BMC Genetics , 6 , Article 22. 10.1186/1471-2156-6-22.
An open access publication. A version is also available from UCL Discovery.
 file

Pollard, PJ and Brière, JJ and Alam, NA and Barwell, J and Barclay, E and Wortham, NC and Hunt, T and Mitchell, M and Olpin, S and Moat, SJ and Hargreaves, IP and Heales, SJ and Chung, YL and Griffiths, JR and Dalgleish, A and McGrath, JA and Gleeson, MJ and Hodgson, SV and Poulsom, R and Rustin, P and Tomlinson, IP (2005) Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations. Hum Mol Genet , 14 (15) 2231 - 2239. 10.1093/hmg/ddi227.

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V

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An open access publication

W

Wilson, AJ and Quinn, KV and Graves, FM and Bitner-Glindzicz, M and Tinker, A (2005) Abnormal KCNQ1 trafficking influences disease pathogenesis in hereditary long QT syndromes (LQT1). CARDIOVASC RES , 67 (3) 476 - 486. 10.1016/j.cardiores.2005.04.036.

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An open access publication

Wopereis, S and Morava, É and Grünewald, S and Mills, PB and Winchester, BG and Clayton, P and Coucke, P and Huijben, KMLC and Wevers, RA (2005) A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: The biochemical characteristics. Biochimica et Biophysica Acta - Molecular Basis of Disease , 1741 (1-2) 156 - 164.

Y

Young, E and Mills, K and Morris, P and Vellodi, A and Lee, P and Waldek, S and Winchester, B (2005) Is globotriaosylceramide a useful biomarker in Fabry disease? ACTA PAEDIATRICA , 94 51 - 54. 10.1080/08035320510028111.

Z

Zeevaert, R and Schollen, E and Mills, P and Lagae, L and Carchon, H and Winchester, B and Matthijs, G and Jaeken, J (2005) A NEW, UNUSUALLY MILD TYPE II CONGENITAL DISORDER OF GLYCOSYLATION. J INHERIT METAB DIS , 28 200 - 200.

This list was generated on Mon May 20 11:45:34 2013 BST.