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Number of items: 87.

A

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

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

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

Aynsley-Green, A and Lindley, KJ and Hussain, K and Hall, J and Saudubray, JM and Nihoul-Fékété, C and De Lonlay-Debeney, P and Brunelle, F and Otonkoski, T and Thornton, P (2000) Practical management of hyperinsulinism in infancy. Archives of Disease in Childhood: Fetal and Neonatal Edition , 82 (2) F98 - F107.

B

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

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

Bitner-Glindzicz, M and Lindley, KJ and Rutland, P and Blaydon, D and Malcolm, S and Farndon, P and Dunne, MJ and Aynsley-Green, A and Glaser, B and Hussain, K and Smith, VV and Milla, P and Furth-Lavi, J and Sowden, J and Scanlan, MJ and Liu, XZ (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 and Lindley, KJ and Rutland, P and Blaydon, D and Malcolm, S and Farndon, P and Dunne, MJ and ynsley-Green, A and Glaser, B and Hussain, K and Smith, VV and Milla, P and Furth-Lavi, J and Sowden, J and Scanlan, MJ and Liu, XZ (2000) A recessive contiguous gene syndrome identifies the type 1C Usher gene. In: Journal of Medical Genetics. (pp. SP50 - ?).

Bitner-Glindzicz, M and Lindley, KJ and Rutland, P and Blaydon, D and Smith, VV and Milla, PJ and Hussain, K and Furth-Lavi, J and Cosgrove, KE and Shepherd, RM and Barnes, PD and O'Brien, RE and Farndon, PA and Sowden, J and Liu, XZ and Scanlan, MJ and Malcolm, S and Dunne, MJ and Aynsley-Green, A and Glaser, B (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 and Rutland, P and Lindley, KJ and Blaydon, D and Smith, VV and Milla, PJ and Hussain, K and Furth-Lavi, J and Cosgrove, KE and Shepherd, RM and Barnes, PD and O'Brien, RE and Sowden, J and Scanlan, MJ and Malcolm, S and Dunne, MJ and Aynsley-Green, A and Glaser, B (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 and 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 and Tyson, J (2000) Genetics in otorhinolaryngology. In: Kitamura, K and Steel, KP, (eds.) Genetics in otorhinolaryngology. (181 - 183). S Karger Ag

Boulton, A and Boyd, P and Cheng, KK and Cook, J and Gilman, EA and Lunt, D and Mahler, H and Walker, C and Wardroper, M and Darbyshire, PJ and Hill, FGH and Mann, JR and Morland, B and Raafat, F and Stevens, MCG and Ahmed, A and Amos, P and Bone, V and Bonney, S and Bray, M and Cambouropoulos, P and Cook, S and Day, N and Elkins, S and Hensel, F and Lucas, P and Pettinger, J and Pugsley, M and Ruja, E and Skinner, J and Williams, D and Braodbent, V and Williams, M and Alcock, M and Bell, K and Buchan, M and Cartwright, R and Cusack, H and Fear, N and Griffiths, S and Jarvis, J and Johnson, P and Kane, E and Law, G and Moorman, A and Prajapati, J and Roberts, P and Roman, E and Simpson, J and Sinclair, V and Staines, A and Thackrah, C and Thistlethwaite, S and Waller, B and Bailey, C and Kinsey, S and Lewis, I and Picton, S and Squire, R and Taylor, R and Beck, JM and Doran, RML and Livingston, JH and Van Hille, P and Beddis, I and Cameron, MM and Craft, A and Hale, J and Kernahan, J and Reid, M and Windebank, K and Pearson, A and Skinner, R and Marks, S and Achilles, J and Alam, S and Birch, JM and Blair, V and Buckley, B and Clarkson, M and Eden, OB and Howell, S and Kellaway, C and Lashford, L and Leeke, S and Leggett, P and Murphy, AV and O'Rorke, C and Panton, S and Paxon, J and Pots, H and Roberts, C and Rothwell, J and Stephenson, W and Whelpton, B and Caswell, M and McDowell, H and Pizer, BL and Gattamaneri, R and Brock, J and Kelsey, AM and Stevens, R and Will, A and Brennan, B and Brydon, J and Dodds, C and Findlay, E and Finucane, J and Fraser, J and Harkness, E and Heary, A and Hunter, N and Juszczak, E and Lang, M and Lapsley, E and McArthur, A and MacCalman, A and McKinney, PA and Proudfoot, K and Smith, C and Smith, K and Stockton, D and Thomson, CS and Vickers, R and Wilkie, R and King, D and Mackinlay, G and Shaw, P and Thomas, A and Wallace, H and Carachi, R and Gibson, BS and Simpson, E and Cruickshank, G and Hide, TAH and Gregor, A and Steers, AJW and Barrett, A and Hamblen, DL and Kaye, SB and Mackie, R and Allen, A and Jones, AA and Beeby, S and Bignall, V and Breeze, L and Deacon, J and MacDonald, M and Matthews, F and Meggitt, C and Peto, J and Sharpe, E and Spencer, C and Swales, J and Thorne, M and Trowbridge, P and Webster-King, J and Williams, E and Bell, BA and Johnston, FG and Marsh, HT and Uttley, D and Bartlett, J and Evans, A and Gullan, RW and Glaser, MG and Peterson, D and Southcott, BM and Cavanagh, N and Pearl, K and Scott, D and Darby, CW and Chessels, J and Evans, J and Gaze, M and Hann, IM and Harkness, W and Hayward, R and Michalski, A and Passmore, J and Phillips, M and Pritchard, J and Clark, KGA and MacDonald, EA and Neville, BGR and Robb, SA and Robinson, RO and Hardwidge, C and Padgham, N and Lobo, VJ and Keen, C and Hindmarsh, PC and Kilby, AM and Souhami, RL and Tuft, S and Thomas, RM and Ward, P and Scott, M and Hoffbrand, AV and Prentice, HG and Gutteridge, CG and Newland, AC and Brada, M and Henk, JM and Meller, S and Pinkerton, R and Jones, KP and Cannon, S and Murrell, DS and Hungerford, JL and Kingston, JE and Plowman, PN and Young, B and Ball, SE and Capps, SNJ and Davies, EG and Holmes, SJK and Carr, R and Mercer, DM and Smith, MA and Andrews, VE and Hughes, RG and Ansell, P and Baker, K and Beral, V and Black, J and Boon, S and Burge, C and Burge, F and Cliff, A and Deciaccio, D and Dorman, P and Heydon, F and Langley, N and Pelerin, M and Roemmele, J and Sayers, K and Townshend, P and Harman, S and Loftus, J and Roth, S and Lee, B and Buchdahl, R and Dunger, DB and Mitchell, C and Moncrieff, MKM and Tam, PKH and Wheeler, K and Reiser, J and Joss, V and Moir, DJ and Darmady, J and Daish, P and Liberman, MM and Al-Izzi, MS and Adams, CBT and Kerr, RSC and Teddy, PJ and Barton, CJ and Newman, CL and Gabriel, CM and O'Hea, M and Sherrin, S and Watson, A and Douek, E and Connell, JA and Kelly, S and Beswick, A and Eldridge, B and Elwood, P and Hughes, J and Phillips, M and Webb, D and Alexander, FE and Bennett-Lloyd, B and Davis, A and Dunn, R and Little, J and Longdon, S and Mitchell, M and Muir, S and Sturitis, J and Kennedy, C and Kohler, J and Lang, D and Radford, M and Foreman, N and Foot, A and Mott, M and Noblett, H and Oakhill, A and Sandeman, D and Baumer, J and Ward, P and McNinch, A and Gilbertson, N and Bosley, A and Richardson, S and Challacombe, D and French, T and Bate, L and Chilvers, CED and Faulkner, G and Hawtin, P and Jenkinson, C and Kelham, P and Mackie, I and Mackie, M and Muir, KR and O'Dwyer, J and Williams, A and Nelson, C and Howarth, C and Madi, M and Shannon, R and Forman, K and Hewitt, M and Punt, J and Walker, D and Gerrard, M and Lilleyman, JS and Vora, A and Draper, G and Harrison, C and Doll, R and Richards, S and Ayres, M and Carter, R and Dearden, SP and Hussain, A and Kennedy, J and Ravetto, P and Ruprai, A and Taylor, GM and Taylor, J and Watson, PD and Colman, SM and Greaves, MF and Price, CM and Goodhead, DT and Allen, S and Bartlett, D and Blackwell, RP and Fry, F and Maslanyj, M and Mee, T and Miles, J and Adams, G and UK Childhood Canc Study Investigat, (2000) The United Kingdom Childhood Cancer Study: objectives, materials and methods. BRIT J CANCER , 82 (5) 1073 - 1102.

C

Calderon, R and Perez-Miranda, A and Pena, JA and Vidales, C and Aresti, U and 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 and Davey, G and Heales, SJR and Stewart, VC and Stone, R (2000) Oxidative stress and neurological disease effects on neurons and astrocytes. J NEUROCHEM , 74 S94 - S94.

D

Dattani, MT and Martinez-Barbera, JP and Thomas, PQ and Brickman, JM and Gupta, R and Wales, JKH and Hindmarsh, PC and Beddington, RSP and Robinson, ICAF (2000) Molecular genetics of septo-optic dysplasia. HORMONE RESEARCH , 53 26 - 33.

Dattani, MT and Robinson, IC (2000) The molecular basis for developmental disorders of the pituitary gland in man. Clinical Genetics , 57 (5) 337 - 346.

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

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

E

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

F

Fall, CHD and Clark, PM and Hindmarsh, PC and Clayton, PE and Shiell, AW and 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.

Ferdinandusse, S and Denis, S and Clayton, PT and Graham, A and Rees, JE and Allen, JT and McLean, BN and Brown, AY and Vreken, P and Waterham, HR and Wanders, RJA (2000) Mutations in the gene encoding peroxisomal α-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy. Nature Genetics , 24 (2) 188 - 191.

G

Geary, M and Hindmarsh, PC and 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 and Heales, SJR and Olpin, SE and Morgan-Hughes, JA and 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 and Rahman, S and Hargreaves, I and 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 and Cole, TJ (2000) Evidence-based growth hormone therapy prediction models. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , 13 1359 - 1364.

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

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

Hitchens, MP and Monk, D and Bell, G and Stanier, P and Preece, MA and 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 and Bitner-Glindzicz, M and 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 and Aynsley-Green, A (2000) Management of hyperinsulinism in infancy and childhood. ANN MED , 32 (8) 544 - 551.

Hussain, K and Chapman, IC and Shepherd, RM and Cosgrove, KE and Swift, SM and Donne, MJ and 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 and Lindley, KJ and Bitner-Glindzicz, M and Aynsley-Green, A and Glaser, B (2000) Hyperinsulinism (HI) associated with sensorineural hearing loss and an inflammatory enteropathy. In: Pediatric Research. (pp. 778 - ?).

Hussain, K and 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 and Thompson, KR and Parker, M and Newton, V and Van Camp, G and Bitner-Glindzicz, M and 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 and Thompson, KR and Parker, M and Newton, V and Van Camp, G and Bitner-Glindzicz, M and 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 and Thompson, KB and Parker, M and Newton, V and Bitner-Glindzicz, M and 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 and Thompson, KB and Parker, M and Newton, V and Bitner-Glindzicz, M and 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 and Worthington, V and Champion, M and Beesley, C and Charlwood, J and Clayton, P and Keir, G and Mian, N and Winchester, B (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 and Achermann, JC and 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.
An open access publication

J

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

Johnson, IP and Cannon, G and Goldspink, G and Yang, SY and Aperghis, M (2000) Rescue of injured adult motoneurones with the gene for a splice variant of IGF-1 (MGF) isolated from skeletal muscle. Society for Neuroscience Abstracts , 26 (2) 792 - ?.

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

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

Jones, RW and Ring, S and Tyfield, L and Hamvas, R and Simmons, H and Pembrey, M and 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

Kambouris, M and Shabib, S and Nazer, H and Al-Mehaidib, A and Abu-Amero, S and Meyer, BF (2000) Localization of the gene for a novel disease characterized by Intestinal Lymphangiectasia to 6p21-22. Evidence for genetic heterogeneity. AM J HUM GENET , 67 (4) 324 - 324.

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

Kemp, TJ and Sadusky, TJ and Saltisi, F and Carey, N and Moss, J and Yang, SY and Sassoon, DA and Goldspink, G and Coulton, GR (2000) Identification of Ankrd2, a novel skeletal muscle gene coding for a stretch-responsive ankyrin-repeat protein. GENOMICS , 66 (3) 229 - 241. 10.1006/geno.2000.6213.

Koziell, A and Charmandari, E and Hindmarsh, PC and Rees, L and Scambler, P and 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 and Bitner-Glindzicz, M and Glaser, B and Dunne, M and Hussain, K and 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 and Glaser, B and Smith, VV and Radley, D and Scanlan, MJ and Dunne, MJ and Bitner-Glindzicz, M and Aynsley-Green, A and Milla, PJ (2000) Familial deficiency of the autoantigen PDZ-73 causes enteropathy and renal tubulopathy. In: Gastroenterology. (pp. 3078 - ?).

M

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

Meyer, B and Kambouris, M and El-Samadi, S and Boumah, C and Abu-Amero, S and Butt, A and Al-Fadley, A and Crossner, C and Pedersen, K and Ullbro, C (2000) Phenotype/genotype correlation of a cohort of patients with Papillon-Lefevere syndrome. AM J HUM GENET , 67 (4) 413 - 413.

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

Mills, K and Johnson, AW and Diettrich, O and Clayton, PT and 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 and Hitchins, MP and Temple, KI and Sharp, A and Preece, MA and Stanier, P and 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 and Wakeling, EL and Proud, V and Hitchins, M and Abu-Amero, SN and Stanier, P and Preece, MA and Moore, GE (2000) Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome. AM J HUM GENET , 66 (1) 36 - 46.

Monk, DN and Hitchins, M and Wassal, M and Temple, K and Sharp, A and Preece, M and Stanier, P and Moore, G (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 and 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 and Ruangvutilert, P and Chatzimeletiou, K and Bell, G and Chen, CK and Johnson, P and 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 and Unwin, R and Brook, CGD and Hindmarsh, PC (2000) Blood pressure and Turner syndrome. CLIN ENDOCRINOL , 52 (3) 363 - 370.

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

Nuoffer, JM and Fluck, C and Deladoey, J and Eble, A and Dattani, MT and 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 and Fluck, C and Deladoey, J and Eble, A and Dattani, MT and 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 and Clayton, PT and 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 and Moore, GE (2000) Genomic imprinting, uniparental disomy and foetal growth. TRENDS ENDOCRIN MET , 11 (7) 270 - 275.

R

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

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

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

Ramanan, AV and Hussain, K and Hird, M and 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 and Sillence, D and Kumar, D and Delozier-Blanchet, C and McKee, S and Kelly, T and McKeehan, WL and Baraitser, M and Winter, RM and Smith, A and Honour, JW and Hindmarsh, P and Das, D and Rumsby, G and Nelson, I and Malcolm, S and Adès, L (2000) Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? Journal of Medical Genetics , 37 (1) 26 - 32.

Rickard, S and Boxer, M and Trompeter, R and 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 and Clark, JB and Heales, SJR (2000) Comparing the effects of astrocytes and microglia on neurons in co-culture. EUR J NEUROSCI , 12 354 - 354.

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

Swerdlow, AJ and Reddingius, RE and Higgins, CD and Spoudeas, HA and Phipps, K and Qiao, Z and Ryder, WDJ and Brada, M and Hayward, RD and Brook, CGD and Hindmarsh, PC and Shalet, SM (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 and Achermann, JC and Recan, D and Bex, V and Bertagna, X and Christin-Maitre, S and Ito, M and Jameson, JL and Bouchard, P (2000) A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism. J CLIN INVEST , 105 (3) 321 - 328.

Tyson, J and Tranebjaerg, L and McEntagart, M and Larsen, LA and Christiansen, M and Whiteford, ML and Bathen, J and Aslaksen, B and Sorland, SJ and Lund, O and Pembrey, ME and Malcolm, S and Bitner-Glindzicz, M (2000) Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen. HUM GENET , 107 (5) 499 - 503.

W

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

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

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This list was generated on Tue May 21 12:57:59 2013 BST.