UCL logo

UCL Discovery

UCL home » Library Services » Electronic resources » UCL Discovery

Browse by UCL Departments and Centres

Up a level
Export as [feed] RSS 2.0 [feed] RSS 1.0 [feed] Atom
Group by: Author | Type
Jump to: A | B | C | D | E | F | G | H | I | J | K | L | M | N | P | R | S | T | W
Number of items: 83.

A

Achermann, JC; (2000) Highlights of the 39th Meeting of the European Society for Paediatric Endocrinology (ESPE). Highlights , 8 1 - 13.

Achermann, JC; Brook, CGD; Hindmarsh, PC; (2000) The GH response to low-dose bolus growth hormone-releasing hormone (GHRH(1-29)NH2) is attenuated in patients with longstanding post-irradiation GH insufficiency. EUR J ENDOCRINOL , 142 (4) 359 - 364.

Achermann, JC; Jeffs, B; Jameson, JL; (2000) SF-1 and DAX-1 in adrenal development and pathology. In: Hughes, IA and Clark, AJL, (eds.) Adrenal disease in childhood: clinical and molecular aspects. (1 - 23). Karger: Basel.

Achermann, JC; Meeks, JJ; Jameson, JL; (2000) X-linked adrenal hypoplasia congenita and DAX-1. ENDOCRINOLOGIST , 10 (5) 289 - 299.

Achermann, JC; Silverman, BL; Habiby, RL; Jameson, JL; (2000) Presymptomatic diagnosis of X-linked adrenal hypoplasia congenita by analysis of DAX1. J PEDIATR , 137 (6) 878 - 881.

Aynsley-Green, A; Lindley, KJ; Hussain, K; Hall, J; Saudubray, JM; Nihoul-Fékété, C; ... Thornton, P; + view all (2000) Practical management of hyperinsulinism in infancy. Archives of Disease in Childhood: Fetal and Neonatal Edition , 82 (2)

B

Bahadur, G; Hindmarsh, P; (2000) Age definitions, childhood and adolescent cancers in relation to reproductive issues. Human Reproduction , 15 (1) 227 - ?.

Bamiou, DE; Macardle, B; Bitner-Glindzicz, M; Sirimanna, T; (2000) Aetiological investigations of hearing loss in hildhood: a review. CLIN OTOLARYNGOL , 25 (2) 98 - 106.

Bitner-Glindzicz, M; Lindley, KJ; Rutland, P; Blaydon, D; Malcolm, S; Farndon, P; ... Liu, XZ; + view all (2000) A recessive contiguous gene syndrome identifies the type 1C Usher gene. In: J MED GENET. (pp. S29 - S29). BRITISH MED JOURNAL PUBL GROUP

Bitner-Glindzicz, M; Lindley, KJ; Rutland, P; Blaydon, D; Malcolm, S; Farndon, P; ... Liu, XZ; + view all (2000) A recessive contiguous gene syndrome identifies the type 1C Usher gene. In: Journal of Medical Genetics. (pp. SP50 - ?).

Bitner-Glindzicz, M; Lindley, KJ; Rutland, P; Blaydon, D; Smith, VV; Milla, PJ; ... Glaser, B; + view all (2000) A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. NAT GENET , 26 (1) 56 - 60.

Bitner-Glindzicz, M; Rutland, P; Lindley, KJ; Blaydon, D; Smith, VV; Milla, PJ; ... Glaser, B; + view all (2000) A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness, identifies the gene for Usher syndrome type 1C. In: AM J HUM GENET. (pp. 41 - 41). UNIV CHICAGO PRESS

Bitner-Glindzicz, M; Tranebjaerg, L; (2000) The Jervell and Lange-Nielsen Syndrome. In: Kitamura, K and Steel, KP, (eds.) Genetics in otorhinolaryngology. (45 - 52). S Karger Ag

Bitner-Glindzicz, M; Tyson, J; (2000) Genetics in otorhinolaryngology. In: Kitamura, K and Steel, KP, (eds.) Genetics in otorhinolaryngology. (181 - 183). S Karger Ag

Boulton, A; Boyd, P; Cheng, KK; Cook, J; Gilman, EA; Lunt, D; ... UK Childhood Canc Study Investigat,; + view all (2000) The United Kingdom Childhood Cancer Study: objectives, materials and methods. BRIT J CANCER , 82 (5) 1073 - 1102.

C

Calderon, R; Perez-Miranda, A; Pena, JA; Vidales, C; Aresti, U; Dugoujon, JM; (2000) The genetic position of the autochthonous subpopulation of northern Navarre (Spain) in relation to other Basque subpopulations. A study based on GM and KM immunoglobulin allotypes. Human Biology , 72 (4) 619 - 640.

Clark, JB; Davey, G; Heales, SJR; Stewart, VC; Stone, R; (2000) Oxidative stress and neurological disease effects on neurons and astrocytes. J NEUROCHEM , 74 S94 - S94.

Clayton, PT; Graham, A; Rees, JE; Allen, JT; Brown, AY; McLean, BN; ... Wanders, RJA; + view all (2000) Mutations in the gene encoding peroxisomal α-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy. Nature Genetics , 24 (2) 188 - 191. 10.1038/72861.

D

Dattani, MT; Martinez-Barbera, JP; Thomas, PQ; Brickman, JM; Gupta, R; Wales, JKH; ... Robinson, ICAF; + view all (2000) Molecular genetics of septo-optic dysplasia. HORMONE RESEARCH , 53 26 - 33.

Dattani, MT; Robinson, IC; (2000) The molecular basis for developmental disorders of the pituitary gland in man. Clinical Genetics , 57 (5) 337 - 346. 10.1034/j.1399-0004.2000.570503.x.

de Vries, BBA; Bitner-Glindzicz, M; Knight, SJL; Tyson, J; MacDermot, KD; Flint, J; ... Winter, RM; + view all (2000) A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome. CLIN GENET , 58 (6) 483 - 487.

Dennison, EM; Hindmarsh, PC; Kellingray, S; Fall, CHD; Brook, CGD; Cooper, C; (2000) Growth hormone predicts baseline bone density but not bone loss in elderly women. OSTEOPOROSIS INT , 11 S18 - S19.

E

Eaton, S; Bursby, T; Middleton, B; Pourfarzam, M; Mills, K; Johnson, AW; Bartlett, K; (2000) The mitochondrial trifunctional protein: centre of a beta-oxidation metabolon? Biochem Soc Trans , 28 (2) 177 - 182.

F

Fall, CHD; Clark, PM; Hindmarsh, PC; Clayton, PE; Shiell, AW; Law, CM; (2000) Urinary GH and IGF-I excretion in nine year-old children: relation to sex, current size and size at birth. CLIN ENDOCRINOL , 53 (1) 69 - 76.

G

Geary, M; Hindmarsh, PC; Rodeck, CH; (2000) Leptin concentrations in maternal serum and cord blood: relationship to maternal anthropometry and fetal growth - Authors' reply. BRIT J OBSTET GYNAEC , 107 (6) 831 - 831.

H

Hargreaves, IP; Heales, SJR; Olpin, SE; Morgan-Hughes, JA; Land, JM; (2000) The diagnosis of carnitine palmitoyltransferase II deficiency is now possible in small skeletal muscle biopsies. J INHERIT METAB DIS , 23 (4) 352 - 354.

Heales, S; Rahman, S; Hargreaves, I; Clayton, P; (2000) Diagnosis of neonatal ubiquinone deficiency; a biochemical approach. In: Journal of Inherited Metabolic Disease. (pp. 139 - ?).

Hindmarsh, PC; (2000) What's best for the bones in Turner syndrome? CLIN ENDOCRINOL , 52 (5) 529 - 530.

Hindmarsh, PC; Cole, TJ; (2000) Evidence-based growth hormone therapy prediction models. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , 13 1359 - 1364.

Hindmarsh, PC; Geary, M; Rodeck, CH; Jackson, M; Kingdom, JC; (2000) Effect of early maternal iron stores on placental weight. The Lancet , 356 719 - 723.

Hindmarsh, PC; Geary, MPP; Rodeck, CH; Jackson, MR; Kingdom, JCP; (2000) Effect of early maternal iron stores on placental weight and structure. LANCET , 356 (9231) 719 - 723.

Hitchens, MP; Monk, D; Bell, G; Stanier, P; Preece, MA; Moore, GE; (2000) Analysis and imprinting status of GRB10, a prime candidate for Silver-Russell syndrome, in human fetal development. In: Genetical Research. (pp. 207 - 208).

Huang, L; Bitner-Glindzicz, M; Tinker, A; (2000) A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome. In: J PHYSIOL-LONDON. (pp. 119P - 120P). CAMBRIDGE UNIV PRESS

Hussain, K; Aynsley-Green, A; (2000) Management of hyperinsulinism in infancy and childhood. ANN MED , 32 (8) 544 - 551.

Hussain, K; Chapman, IC; Shepherd, RM; Cosgrove, KE; Swift, SM; Donne, MJ; Aynsley-Green, A; (2000) Defects in ATP-sensitive K+ channels are not causally related to hyperinsulinism (HI) in an infantile adenoma. In: Pediatric Research. (pp. 777 - 778).

Hussain, K; Lindley, KJ; Bitner-Glindzicz, M; Aynsley-Green, A; Glaser, B; (2000) Hyperinsulinism (HI) associated with sensorineural hearing loss and an inflammatory enteropathy. In: Pediatric Research. (pp. 778 - ?).

Hussain, K; Sharief, N; (2000) The inaccuracy of venous and capillary blood glucose measurement using reagent strips in the newborn period and the effect of haematocrit. EARLY HUM DEV , 57 (2) 111 - 121.

Hutchin, T; Thompson, KR; Parker, M; Newton, V; Van Camp, G; Bitner-Glindzicz, M; Mueller, RF; (2000) Apparent high prevalence of mitochondrial DNA mutations in congenital/childhood non-syndromic sensorineural hearing impairment. In: Journal of Medical Genetics. (pp. SP29 - ?).

Hutchin, T; Thompson, KR; Parker, M; Newton, V; Van Camp, G; Bitner-Glindzicz, M; Mueller, RF; (2000) Apparent high prevalence of mitochondrial DNA mutations in congenital/childhood non-syndromic sensorineural hearing impairment. In: J MED GENET. (pp. S21 - S21). BRITISH MED JOURNAL PUBL GROUP

Hutchin, TP; Thompson, KB; Parker, M; Newton, V; Bitner-Glindzicz, M; Mueller, RF; (2000) Apparent high prevalence of mitochondrial DNA mutations in congenital/childhood non-syndromic sensorineural hearing loss. In: American Journal of Human Genetics. (pp. 2008 - ?).

Hutchin, TP; Thompson, KB; Parker, M; Newton, V; Bitner-Glindzicz, M; Mueller, RF; (2000) Apparent high prevalence of mitochondrial DNA mutations in congenital/childhood non-syndromic sensorineural hearing loss. In: AM J HUM GENET. (pp. 359 - 359). UNIV CHICAGO PRESS

I

Imtiaz, F; Worthington, V; Champion, M; Beesley, C; Charlwood, J; Clayton, P; ... Winchester, B; + view all (2000) Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1. J INHERIT METAB DIS , 23 (2) 162 - 174.

Ito, M; Achermann, JC; Jameson, JL; (2000) A naturally occurring steroidogenic factor-1 mutation exhibits differential binding and activation of target genes. J BIOL CHEM , 275 (41) 31708 - 31714. Gold open access

J

Jarman, PR; Bhatia, KP; Davie, C; Heales, SJR; Turjanski, N; Taylor-Robinson, SD; ... Wood, NW; + view all (2000) Paroxysmal dystonic choreoathetosis: Clinical features and investigation of pathophysiology in a large family. MOVEMENT DISORD , 15 (4) 648 - 657.

Johnson, P; Duncan, B; S, B; G, A; Z, C; P, M; G, E; (2000) Confined placental mosaicism of trisomy 16 and multiple fetal anomalies: Case report. Prenatal Diagnosis , 20 417 - 421.

Johnson, P; Duncan, K; Blunt, S; Bell, G; Ali, Z; Cox, P; Moore, GE; (2000) Apparent confined placental mosaicism of trisomy 16 and multiple fetal anomalies: case report. Prenat Diagn , 20 (5) 417 - 421.

Jones, RW; Ring, S; Tyfield, L; Hamvas, R; Simmons, H; Pembrey, M; Golding, J; (2000) A new human genetic resource: a DNA bank established as part of the Avon Longitudinal Study of Pregnancy and Childhood (ALSPAC). European Journal of Human Genetics , 8 653 - 660.

K

Kelberman, D; Tyson, J; McInerney, AM; Malcolm, S; Winter, RM; Bitner-Glindzicz, M; (2000) Mapping of a locus for autosomal dominant Hemifacial Microsomia. In: Journal of Medical Genetics. (pp. 618 - ?).

Koziell, A; Charmandari, E; Hindmarsh, PC; Rees, L; Scambler, P; Brook, CGD; (2000) Frasier syndrome, part of the Denys Drash continuum or simply a WT1 gene associated disorder of intersex and nephropathy? CLIN ENDOCRINOL , 52 (4) 519 - 524.

L

Lindley, K; Bitner-Glindzicz, M; Glaser, B; Dunne, M; Hussain, K; ynsley-Green, A; (2000) A 120-kb contiguous gene deletion on chromosome 11p causing severe infantile hyperinsulinism (HI), sensorineural hearing loss (SHL), inflammatory enteropathy (IE) and a renal tubulopathy (RT) provides new insights into the control of the development and structure of these organ systems. In: Hormone Research. (pp. 25 - ?).

Lindley, KJ; Glaser, B; Smith, VV; Radley, D; Scanlan, MJ; Dunne, MJ; ... Milla, PJ; + view all (2000) Familial deficiency of the autoantigen PDZ-73 causes enteropathy and renal tubulopathy. In: Gastroenterology. (pp. 3078 - ?).

M

Mason, S; Ong, KKL; Pembrey, ME; Woods, KA; Dunger, DB; (2000) The Gly972Arg variant in insulin receptor substrate-1 is not associated with birthweight in contemporary English children. Diabetologia , 43 1201 - 1202.

Michie, C; Kinsler, V; Tulloh, R; Davidson, S; (2000) Recurrent skin peeling following Kawasaki disease. Archives of Disease in Childhood , 83 (4) 353 - 355.

Mills, K; Johnson, AW; Diettrich, O; Clayton, PT; Winchester, BG; (2000) A strategy for the identification of site-specific glycosylation in glycoproteins using MALDI TOF MS. TETRAHEDRON-ASYMMETR , 11 (1) 75 - 93.

Monk, D; Hitchins, MP; Temple, KI; Sharp, A; Preece, MA; Stanier, P; Moore, GE; (2000) Detailed FISH analyses of three Silver-Russell syndrome (SRS) patients with cytogenetic disruptions of chromosome 7p11.2-p13 define a candidate region for SRS. In: J MED GENET. (pp. S51 - S51). BRITISH MED JOURNAL PUBL GROUP

Monk, D; Wakeling, EL; Proud, V; Hitchins, M; Abu-Amero, SN; Stanier, P; ... Moore, GE; + view all (2000) Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome. AM J HUM GENET , 66 (1) 36 - 46.

Monk, DN; Hitchins, M; Wassal, M; Temple, K; Sharp, A; Preece, M; ... Moore, G; + view all (2000) Detailed FISH analyses of Silver-Russell Syndrome (SRS) patients with cytogenetic disruptions of chromosome 7p11.2-p13 define a candidate region for SRS. The American Journal of Human Genetics , 67 (4) 756 - ?.

Monson, JP; Hindmarsh, P; (2000) The assessment of growth hormone deficiency in children and adults with particular reference to the transitional period. Clinical Endocrinology , 53 (5) 545 - 547.

Moore, GE; Ruangvutilert, P; Chatzimeletiou, K; Bell, G; Chen, CK; Johnson, P; Harper, JC; (2000) Examination of trisomy 13, 18 and 21 foetal tissues at different gestational ages using FISH. EUR J HUM GENET , 8 (3) 223 - 228.

N

Nathwani, NC; Unwin, R; Brook, CGD; Hindmarsh, PC; (2000) Blood pressure and Turner syndrome. CLIN ENDOCRINOL , 52 (3) 363 - 370.

Nathwani, NC; Unwin, R; Brook, CGD; Hindmarsh, PC; (2000) The influence of renal and cardiovascular abnormalities on blood pressure in Turner syndrome. CLIN ENDOCRINOL , 52 (3) 371 - 377.

Nuoffer, JM; Fluck, C; Deladoey, J; Eble, A; Dattani, MT; Mullis, PE; (2000) Regulation of human GH receptor gene transcription by 20 and 22 kDa GH in a human hepatoma cell line. J ENDOCRINOL , 165 (2) 313 - 320.

Nuoffer, JM; Fluck, C; Deladoey, J; Eble, A; Dattani, MT; Mullis, PE; (2000) Regulation of human GH receptor gene transcription by 20 and 22 kDa human hepatoma cell line. Journal of Endocrinology , 165 443 - 448.

P

Pope, SAS; Clayton, PT; Muller, DPR; (2000) A new method for the analysis of urinary vitamin E metabolites and the tentative identification of a novel group of compounds. ARCH BIOCHEM BIOPHYS , 381 (1) 8 - 15.

Preece, MA; Moore, GE; (2000) Genomic imprinting, uniparental disomy and foetal growth. TRENDS ENDOCRIN MET , 11 (7) 270 - 275.

R

Rahman, S; Brown, R; Chong, W; Wilson, C; Brown, G; (2000) Leukodystrophy associated with a novel mutation in the SURF1 gene. In: Journal of Inherited Metabolic Disease. (pp. 142 - ?).

Rahman, S; Lake, BD; Taanman, JW; Hanna, MG; Cooper, JM; Schapira, AHV; Leonard, JV; (2000) Cytochrome oxidase immunohistochemistry: clues for genetic mechanisms. BRAIN , 123 591 - 600.

Rahman, S; Leonard, JV; (2000) Early onset of complete heart block in Pearson syndrome. J Inherit Metab Dis , 23 (7) 753 - 754.

Ramanan, AV; Hussain, K; Hird, M; Gaspar, HB; (2000) Short limbed skeletal dysplasia associated with combined immunodeficiency and congenital subglottic stenosis: a new constellation of features. CLIN DYSMORPHOL , 9 (3) 173 - 176.

Reardon, W; Baraitser, M; Winter, RM; Smith, A; Nelson, I; Malcolm, S; ... McKeehan, WL; + view all (2000) Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? Journal of Medical Genetics , 37 (1) 26 - 32.

Rickard, S; Boxer, M; Trompeter, R; Bitner-Glindzicz, M; (2000) Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes. J MED GENET , 37 (8) 623 - 627.

S

Stewart, VC; Clark, JB; Heales, SJR; (2000) Comparing the effects of astrocytes and microglia on neurons in co-culture. EUR J NEUROSCI , 12 354 - 354.

Stewart, VC; Sharpe, MA; Clark, JB; Heales, SJR; (2000) Astrocyte-derived nitric oxide causes both reversible and irreversible damage to the neuronal mitochondrial respiratory chain. J NEUROCHEM , 75 (2) 694 - 700.

Stone, R; Stewart, VC; Sharpe, MA; Hurst, RD; Clark, JB; Heales, SJR; (2000) An ecSOD-like factor preserves glutathione released by astrocytes. EUR J NEUROSCI , 12 232 - 232.

Swerdlow, AJ; Reddingius, RE; Higgins, CD; Spoudeas, HA; Phipps, K; Qiao, Z; ... Shalet, SM; + view all (2000) Growth hormone treatment of children with brain tumors and risk of tumor recurrence. J CLIN ENDOCR METAB , 85 (12) 4444 - 4449.

T

Tabarin, A; Achermann, JC; Recan, D; Bex, V; Bertagna, X; Christin-Maitre, S; ... Bouchard, P; + view all (2000) A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism. J CLIN INVEST , 105 (3) 321 - 328.

Tyson, J; Tranebjaerg, L; McEntagart, M; Larsen, LA; Christiansen, M; Whiteford, ML; ... Bitner-Glindzicz, M; + view all (2000) Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen. HUM GENET , 107 (5) 499 - 503.

W

Wakeling, EL; Hitchins, M; Stanier, P; Monk, D; Moore, GE; Preece, MA; (2000) Silver-Russell syndrome and ring chromosome 7. J MED GENET , 37 (5) 380 - 380.

Wakeling, EL; Hitchins, MP; Abu-Amero, SN; Stanier, P; Moore, GE; Preece, MA; (2000) Biallelic expression of IGFBP1 and IGFBP3, two candidate genes for the Silver-Russell syndrome. J MED GENET , 37 (1) 65 - 67.

Whitfield, PD; Clayton, PT; Muller, DPR; (2000) Effect of intravenous lipid emulsions on hepatic cholesterol metabolism. J PEDIATR GASTR NUTR , 30 (5) 538 - 546.

Wilson, CJ; Van Wyk, KG; Leonard, JV; Clayton, PT; (2000) Phenylalanine supplementation improves the phenylalanine profile in tyrosinaemia. J Inherit Metab Dis , 23 (7) 677 - 683.

Wilson, CJ; Wood, NW; Leonard, JV; Surtees, R; Rahman, S; (2000) Mitochondrial DNA point mutation T9176C in Leigh syndrome. J CHILD NEUROL , 15 (12) 830 - 833.

Witsch-Baumgartner, M; Ogorelkova, M; Kraft, HG; Utermann, G; Fitzky, BU; Moebius, FF; ... Clayton, P; + view all (2000) Mutational spectrum in the Δ7-sterol reductase gene and genotype- phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. American Journal of Human Genetics , 66 (2) 402 - 412. 10.1086/302760.

This list was generated on Sun Apr 13 05:54:31 2014 BST.