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Number of items: 109.

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

Aligianis, I; Johnson, CA; Morgan, NV; Gissen, P; Chen, D; Hampshire, D; ... Maher, ER; + view all (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; Johnson, CA; Gissen, P; Maina, EN; Morgan, NV; Tee, L; ... Takai, Y; + view all (2005) Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. Nature Genetics , 37 (3) 221 - 223. 10.1038/ng1517.

Amin, R; Bahu, TK; Widmer, B; Dalton, RN; 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; Turner, C; van Aken, S; Bahu, TK; Watts, A; Lindsell, DR; ... Dunger, DB; + view all (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; Williams, RM; Frystyk, J; Umpleby, M; Matthews, D; Orskov, H; ... Dunger, DB; + view all (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.; Klein, M.; Hammond, P.; van Haeringen, A.; Mannens, M.M.A.M.; Van Berckelaer-Onnes, I.; 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.

C

Cameron, N.; Preece, M.A.; 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; Balreira, A; Martins, E; Nunes, L; Cabral, A; Marques, M; ... Vilarinho, L; + view all (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; Fortuna, AM; Vilarinho, L; Castedo, S; Martins, M; Montenegro, N; ... Clayton, P; + view all (2005) Diagnóstico pré-natal de síndrome de Smith-Lemli-Opitz. Arquivos de Medicina , 19 (1-2)

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

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

Common, JEA; Bitner-Glindzicz, M; O'Toole, EA; Barnes, MR; Jenkins, L; Forge, A; 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; O'Toole, EA; Leigh, IM; Thomas, AC; (2005) Clinical and genetic heterogeneity of erythrokeratoderma variabilis. Journal of Investigative Dermatology

D

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

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; Moore, GE; Stanier, P; Ybot-Gonzalez, P; Paternotte, C; Greene, NDE; ... Stevenson, RE; + view all (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; Moore, GE; Stanier, P; Ybot-Gonzalez, P; Paternotte, C; Greene, NDE; ... Stevenson, RE; + view all (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; Moore, GE; Stanier, P; Ybot-Gonzalez, P; Paternotte, C; Greene, NDE; ... Stevenson, RE; + view all (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. 10.1002/ajmg.a.30931.

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

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

Duncan, AJ; 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; Heales, SJR; Mills, K; Eaton, S; Land, JM; 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. Green open access
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E

Elpeleg, O; Miller, C; Hershkovitz, E; Bitner-Glindzicz, M; Bondi-Rubenstein, G; Rahman, S; ... Saada, A; + view all (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; Maret, A; Mallet, D; Portrat-Doyen, S; Achermann, JC; Leheup, B; ... Morel, Y; + view all (2005) A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of swiss ancestry with congenital lipoid adrenal hyperplasia. The Journal of Clinical Endocrinology & Metabolism , 90 (9) 5304 - 5308. 10.1210/jc.2005-0874. Green open access
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G

Gachet, Y.; Codlin, S.; Hyams, J.S.; 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; Modi, N; Stanier, P; Moore, GE; (2005) Neonatal buccal cell collection for DNA analysis. ARCH DIS CHILD , 90 (2) F187 - F187. 10.1136/adc.2004.062661.

Gavriel, G; Modi, N; Stanier, P; 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; Clark, JB; 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; Clark, JB; 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; Johnson, CA; Gentle, D; Hurst, LD; Doherty, AJ; O'Kane, CJ; ... Maher, ER; + view all (2005) Comparative evolutionary analysis of VPS33 homologues: genetic and functional insights. HUM MOL GENET , 14 (10) 1261 - 1270. 10.1093/hmg/ddi137.

H

Hammond, P.; Hutton, T.J.; Allanson, J.E.; Buxton, B.; Campbell, L.E.; Clayton-Smith, J.; ... Tassabehji, M.; + view all (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; Duncan, A; Mills, K; Eaton, S; Land, JM; 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; Duncan, AJ; Heales, SJR; 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; Duncan, AJ; Wu, L; Agrawal, A; Land, JM; 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; Sheena, Y; Land, JM; 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; Brown, RM; Zolkipli, Z; Shahdadpuri, R; King, MD; Clayton, PT; 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; Foxton, RH; Canevari, LC; Alp, NJ; 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. Gold open access

Hiort, O; Holterhus, PM; Werner, R; Marschke, C; Hoppe, U; Partsch, CJ; ... Struve, D; + view all (2005) Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure. The Journal of Clinical Endocrinology & Metabolism , 90 (1) 538 - 541. 10.1210/jc.2004-1059. Green open access
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Hitchins, MP; Rickard, S; Dhalla, F; de Vries, BB; Winter, R; Pembrey, ME; 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; Bryan, J; Christesen, HT; Brusgaard, K; Aguilar-Bryan, L; (2005) Serum glucagon counterregulatory hormonal response to hypoglycemia is blunted in congenital hyperinsulinism. DIABETES , 54 (10) 2946 - 2951.

Hussain, K; Clayton, PT; Krywawych, S; Chatziandreou, I; Mills, P; Ginbey, DW; ... Eaton, S; + view all (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; Clayton, PT; Krywawych, S; Chatziandreou, I; Mills, P; Ginbey, DW; ... Eaton, S; + view all (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; 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; Cosgrove, KE; Shepherd, RM; Luharia, A; Smith, VV; Kassem, S; ... Dunne, MJ; + view all (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; Coy, NN; Conlon, H; Telford, E; Bromelow, K; Blaydon, D; ... Mueller, R; + view all (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; Clayton, P; Grunewald, S; Keir, G; Mills, K; Mills, P; ... Young, E; + view all (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; Duchen, MR; Hothersall, J; Clark, JB; 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; Bitner-Glindzicz, M; Malcolm, S; Hu, CCA; Allison, J; Winyard, PJD; ... Woolf, AS; + view all (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; Bitner-Glindzicz, M; Malcolm, S; Hu, CCA; Allison, J; Winyard, PJD; ... Woolf, AS; + view all (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; Saihan, Z; Haralambous, E; Waseem, N; Bhattacharya, SS; Moore, AT; ... Webster, AR; + view all (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; Tarantal, AF; Rice, K; Leland, M; Oerke, AK; Rodeck, C; ... Aiello, LC; + view all (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; Atherton, DJ; Hawk, JLM; (2005) Diffuse cutaneous mastocytosis treated with psoralen photochemotherapy: Case report and review of the literature [5]. British Journal of Dermatology , 152 (1) 179 - 180. 10.1111/j.1365-2133.2004.06300.x.

Kitagawa, T; Ishige, N; Suzuki, K; Owada, M; Ohashi, T; Kobayashi, M; ... Keutzer, J; + view all (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; Akcakus, M; Keskin, M; Ozcan, A; 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. 10.1159/000087471.

L

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

Lo, B; Li, L; Gissen, P; Christensen, H; McKiernan, PJ; Ye, C; ... Kahr, WHA; + view all (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; Plumb-Rudewiez, N; Lorent, K; Gissen, P; Johnson, CA; Lemaigre, F; 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.

Mehta, A; Hindmarsh, PC; 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; Hindmarsh, PC; Stanhope, RG; Turton, JPG; Cole, TJ; Preece, MA; 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; Eaton, S; Ledger, V; Young, E; 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; Morris, P; Lee, P; Vellodi, A; Waldek, S; Young, E; 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.; Surtees, R.A.H.; Champion, M.P.; Beesley, C.E.; Dalton, N.; Scambler, P.J.; ... Clayton, P.T.; + view all (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; Surtees, RAH; Champion, MP; Beesley, CE; Dalton, N; Scambler, PJ; ... Clayton, PT; + view all (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; Hu, M; Hussain, K; Bryan, J; Aguilar-Bryan, L; 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; Hosomi, N; Oiso, N; Giovannucci-Uzielli, ML; Aquaron, R; Mizoguchi, M; ... Fukai, K; + view all (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; Miller, A; Stidwill, R; Jacques, TS; Lam, AAJ; Haworth, S; ... Vallance, P; + view all (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; Alfonso-Sánchez, MA; Peña, JA; de Pancorbo, MM; 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; 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; Alfonso-Sanchez, MA; Kalantar, A; Garcia-Obregon, S; de Pancorbo, MM; Pena, JA; 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; Alfonso-Sanchez, MA; Kalantar, A; Pena, JA; de Pancorbo, MM; 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; Ong, KK; Barratt, BJ; Wingate, D; Cordell, HJ; Ring, SM; ... Dunger, DB; + view all (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. Green and gold open access
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Pollard, PJ; Brière, JJ; Alam, NA; Barwell, J; Barclay, E; Wortham, NC; ... Tomlinson, IP; + view all (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.

Pringle, PJ; Geary, MPP; Rodeck, CH; Kingdom, JCP; Kayamba-Kay's, S; Hindmarsh, PC; (2005) The influence of cigarette smoking on antenatal growth, birth size, and the insulin-like growth factor axis. J CLIN ENDOCR METAB , 90 (5) 2556 - 2562. 10.1210/jc.2004-1674.

Pulkes, T; Liolitsa, D; Eunson, LH; Rose, M; Nelson, IP; Rahman, S; ... Hanna, MG; + view all (2005) New phenotypic diversity associated with the mitochondrial tRNA (Ser(UCN)) gene mutation. NEUROMUSCULAR DISORD , 15 (5) 364 - 371. 10.1016/j.nmd.2005.01.006.

Pulkes, T; Liolitsa, D; Wills, AJ; Hargreaves, I; Heales, S; Hanna, MG; (2005) Nonsense mutations in mitochondrial DNA associated with myalgia and exercise intolerance. NEUROLOGY , 64 (6) 1091 - 1092.

R

Rees, DC; Iolascon, A; Carella, M; O'Marcaigh, AS; Kendra, JR; Jowitt, SN; ... Stewart, GW; + view all (2005) Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia. BRIT J HAEMATOL , 130 (2) 297 - 309. 10.1111/j.1365-2141.2005.05599.x.

Rees, DC; Wales, JK; Vora, A; Makris, M; Manning, N; Iolascon, A; ... Stewart, GW; + view all (2005) Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia. British Journal of Haematology , 130 (2) 297 - 309. 10.1111/j.1365-2141.2005.05599.x.

Rose, S; Cameron, FG; Achermann, JC; (2005) Highlights of the 7th Joint Meeting of the Endocrine Societies. Highlights , 13 (5) 1 - 32.

S

Saihan, Z; Cook, L; Jenkins, SA; Guest, M; Fitzke, FW; Bitner-Glindzicz, M; ... Webster, AR; + view all (2005) Visual function in Usher syndrome. In: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. (pp. ? - ?). ASSOC RESEARCH VISION OPHTHALMOLOGY INC

Sami, DA; Saunders, D; Thompson, DA; Russell-Eggitt, IM; Nischal, KK; Jeffery, G; ... Taylor, DS; + view all (2005) The achiasmia spectrum: congenitally reduced chiasmal decussation. BRIT J OPHTHALMOL , 89 (10) 1311 - 1317. 10.1136/bjo.2005.068171.

Sami, DA; Saunders, D; Thompson, DA; Russell-Eggitt, IM; Nischal, KK; Jeffrey, G; ... Taylor, DS; + view all (2005) The achiasmia spectrum: congenitally reduced chiasmal decussation. Br J Ophthalmol , 89 (10) 1311 - 1317. 10.1136/bjo.2005.068171.

Schlingmann, KP; Sassen, MC; Weber, S; Pechmann, U; Kusch, K; Pelken, L; ... Konrad, M; + view all (2005) Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemia. J Am Soc Nephrol , 16 (10) 3061 - 3069. 10.1681/ASN.2004110989.

Segal, TY; Hindmarsh, PC; Viner, RM; (2005) Disturbed adrenal function in adolescents with chronic fatigue syndrome. J PEDIATR ENDOCR MET , 18 (3) 295 - 301.

Semple, RK; Achermann, JC; Ellery, J; Farooqi, IS; Karet, FE; Stanhope, RG; ... Aparicio, SA; + view all (2005) Two novel missense mutations in G protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism. The Journal of Clinical Endocrinology & Metabolism , 90 (3) 1849 - 1855. 10.1210/jc.2004-1418. Green open access
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Shackleton, S; Smallwood, DT; Clayton, P; Wilson, LC; Agarwal, AK; Garg, A; Trembath, RC; (2005) Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotype. JOURNAL OF MEDICAL GENETICS , 42 (6) , Article ARTN e36. 10.1136/jmg.2004.029751.

Shackleton, S; Smallwood, DT; Clayton, P; Wilson, LC; Agarwal, AK; Garg, A; Trembath, RC; (2005) Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotype. Journal of Medical Genetics , 42 ((6))

Shelley, P; Tarry-Adkins, J; Martin-Gronert, MS; Heales, SJ; Clark, JB; Poston, L; ... McConnell, JML; + view all (2005) Maternal diet 'Programs' late onset mitochondrial dysfunction in renal tissue of male offspring. In: PEDIATRIC RESEARCH. (pp. 1018 - 1019).

Shepard, EM; Chow, RA; Suafo'a, E; Addison, D; Perez-Miranda, AM; Garcia-Bertrand, RL; Herrera, RJ; (2005) Autosomal STR variation in five Austronesian Populations. HUM BIOL , 77 (6) 825 - 851.

Signore, M; Sajedi, S; Gaston-Massuet, C; Dattani, M; Martinez-Barbera, JP; (2005) Role of the Homeobox Gene Hesx1 in forebrain and pituitary formation in mouse and human. MECH DEVELOP , 122 S33 - S33.

Simsek, E; Ozdemir, I; Lin, L; Achermann, JC; (2005) Isolated 17,20-lyase (desmolase) deficiency in a 46,XX female presenting with delayed puberty. FERTIL STERIL , 83 (5) 1548 - 1548.

Snoeckx, RL; Huygen, PL; Feldmann, D; Marlin, S; Denoyelle, F; Waligora, J; ... Van Camp, G; + view all (2005) GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet , 77 (6) 945 - 957. 10.1086/497996.

T

Turton, JPG; Mehta, A; Raza, J; Woods, KS; Tiulpakov, A; Cassar, J; ... Dattani, MT; + view all (2005) Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD). CLIN ENDOCRINOL , 63 (1) 10 - 18. 10.1111/j.1365-2265.2005.02291.x.

Turton, JPG; Mehta, A; Woods, KS; Dattani, MT; Reynaud, R; Saveanu, A; ... Barton, J; + view all (2005) Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency. Journal of Clinical Endocrinology and Metabolism , 90 (8) 4762 - 4770. 10.1210/jc.2005-0570.

Turton, JPG; Reynaud, R; Mehta, A; Torpiano, J; Saveanu, A; Woods, KS; ... Dattani, MT; + view all (2005) Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency. Journal of Clinical Endocrinology and Metabolism , 90 (8) 4762 - 4770.

Turton, JPG; Reynaud, R; Mehta, A; Torpiano, J; Saveanu, A; Woods, KS; ... Dattani, MT; + view all (2005) Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency. J CLIN ENDOCR METAB , 90 (8) 4762 - 4770. 10.1210/jc.2005-0570.

V

Vella, A; Cooper, JD; Lowe, CE; Walker, N; Nutland, S; Widmer, B; ... Todd, JA; + view all (2005) Localization of a type 1 diabetes locus in the IL2RA/CD25 region by use of tag single-nucleotide polymorphisms. The American Journal of Human Genetics , 76 (5) 773 - 779.

Viner, RM; Segal, TY; Lichtarowicz-Krynska, E; Hindmarsh, P; (2005) Prevalence of the insulin resistance syndrome in obesity. ARCH DIS CHILD , 90 (1) 10 - 14. 10.1136/adc.2003.036467. Gold open access

W

Wilson, AJ; Quinn, KV; Graves, FM; Bitner-Glindzicz, M; 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.

Woods, KS; Cundall, M; Turton, J; Rizotti, K; Mehta, A; Palmer, R; ... Dattani, MT; + view all (2005) Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism. AM J HUM GENET , 76 (5) 833 - 849. Gold open access

Wopereis, S; Huijben, KMLC; Wevers, RA; Morava, É; Grünewald, S; Coucke, P; ... Clayton, P; + view all (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. 10.1016/j.bbadis.2004.11.009.

Y

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

Z

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

This list was generated on Sun Apr 13 05:51:37 2014 BST.