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Number of items: 63.

A

Abu-Amero, SN; Ali, Z; Abu-Amero, KK; Stanier, P; Moore, GE; (1999) An analysis of common isodisomic regions in five mUPD 16 probands. J MED GENET , 36 (3) 204 - 207.

Achermann, JC; Brook, CGD; Robinson, ICAF; Matthews, DR; Hindmarsh, PC; (1999) Peak and trough growth hormone (GH) concentrations influence growth and serum insulin like growth factor-1 (IGF-1) concentrations in short children. CLIN ENDOCRINOL , 50 (3) 301 - 308.

Achermann, JC; Gu, WX; Kotlar, TJ; Meeks, JJ; Sabacan, LP; Seminara, SB; ... Jameson, JL; + view all (1999) Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay. The Journal of Clinical Endocrinology & Metabolism , 84 (12) 4497 - 4500. 10.1210/jc.84.12.4497. Green open access
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Achermann, JC; Hindmarsh, PC; Robinson, ICAF; Matthews, DR; Brook, CGD; (1999) The relative roles of continuous growth hormone-releasing hormone (GHRH(1-29)NH2) and intermittent somatostatin(1-14)(SS) in growth hormone (GH) pulse generation: studies in normal and post cranial irradiated individuals. CLIN ENDOCRINOL , 51 (5) 575 - 585.

Achermann, JC; Ito, M; Hindmarsh, PC; Jameson, JL; (1999) A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans [letter]. Nature Genetics , 22 (2) 125 - 126.

Akobeng, AK; Clayton, PT; Miller, V; Super, M; Thomas, A; (1999) An inborn error of bile acid synthesis (3  -hydroxy-5-C27-steroid dehydrogenase deficiency) presenting as rickets. Archives of Disease in Childhood , 80 459 - 462.

Akobeng, AK; Clayton, PT; Miller, V; Super, M; Thomas, AG; (1999) An inborn error of bile acid synthesis (3 beta-hydroxy-Delta(5)-C-27-steroid dehydrogenase deficiency) presenting as malabsorption leading to rickets. ARCH DIS CHILD , 80 (5) 463 - 465.

B

Backhouse, O; Leitch, RJ; Thompson, D; Kriss, A; Charris, D; Clayton, P; Russell-Eggitt, I; (1999) A case of reversible blindness in maple syrup urine disease [1]. British Journal of Ophthalmology , 83 (2) 250 - 251.

Bitner-Glindzicz, M; (1999) Clinical Genetics in Pediatric Otolaryngology. In: Myer, CM, (ed.) Practical pediatric otolaryngology. (105 - 116). Lippincott Williams & Wilkins

Bitner-Glindzicz, M; Huang, LQ; Tyson, J; Tinker, A; (1999) Counselling in the Long QT syndromes: dominant or recessive conditions? In: J MED GENET. (pp. S63 - S63). BRITISH MED JOURNAL PUBL GROUP

Braybrook, C; Moore, GE; Stanier, P; (1999) Identification of candidate genes for X-linked cleft palate and ankyloglossia in an Icelandic kindred. In: Genetical Research. (pp. 101 - 101).

Bridges, NA; Hindmarsh, PC; Pringle, PJ; Honour, JW; Brook, CGD; (1999) Cortisol, androstenedione (A4), dehydroepiandrosterone sulphate (DHAS) and 17-hydroxyprogesterone (17OHP) responses to low doses of ACTH (1-24). Journal of Clinical Endocrinology and Metabolism , 84 4177 - ?.

Bridges, NA; Hindmarsh, PC; Pringle, PJ; Honour, JW; Brook, CGD; (1999) Cortisol, androstenedione (A4), dehydroepiandrosterone sulphate (DHEAS), and 17 hydroxyprogesterone (17OHP) responses to low doses of (1-24)ACTH (vol 83, pg 3750, 1999). J CLIN ENDOCR METAB , 84 (11) 4177 - 4177.

C

Camacho-Hubner, C; Woods, KA; Miraki-Moud, F; Hindmarsh, PC; Clark, AJ; Hansson, Y; ... Savage, MO; + view all (1999) Effects of recombinant human insulin-like growth factor I (IGF-I) therapy on the growth hormone-IGF system of a patient with a partial IGF-I gene deletion. J CLIN ENDOCR METAB , 84 (5) 1611 - 1616.

Canevari, L; Land, JM; Clark, JB; Heales, SJR; (1999) Acute BH4 administration corrects the brain NO/cGMP pathway in the GTP-cyclohydrolase I deficient mouse; Implications for dopa-responsive dystonia. J NEUROCHEM , 73 S205 - S205.

Canevari, L; Land, JM; Clark, JB; Heales, SJR; (1999) Stimulation of the brain NO/cyclic GMP pathway by peripheral administration of tetrahydrobiopterin in the hph-1 mouse. J NEUROCHEM , 73 (6) 2563 - 2568.

Carmichael, B; Pembrey, M; Turner, G; Barnicoat, A; (1999) Diagnosis of fragile-X syndrome: the experiences of parents. J INTELLECT DISABIL RES , 43 (Pt 1) 47 - 53.

Casteels, K; Ong, K; Phillips, D; Bendall, H; Pembrey, M; Poulton, J; Dunger, D; (1999) Mitochondrial 16189 variant, thinness at birth, and type-2 diabetes. The Lancet , 353 1499 - 1500.

D

Deladoey, J; Fluck, C; Buyukgebiz, A; Kuhlmann, BV; Eble, A; Hindmarsh, PC; ... Mullis, PE; + view all (1999) "Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency. J CLIN ENDOCR METAB , 84 (5) 1645 - 1650.

Dennison, E; Hindmarsh, P; Fall, C; Kellingray, S; Barker, D; Phillips, D; Cooper, C; (1999) Profiles of endogenous circulating cortisol and bone mineral density in healthy elderly men. Journal of Clinical Endocrinology and Metabolism , 84 (9) 3058 - 3063.

G

Geary, M; Herschkovitz, R; Pringle, PJ; Rodeck, CH; Hindmarsh, PC; (1999) Ontogeny of serum leptin concentrations in the human. CLIN ENDOCRINOL , 51 (2) 189 - 192.

Geary, M; Pringle, PJ; Persaud, M; Wilshin, J; Hindmarsh, PC; Rodeck, CH; Brook, CGD; (1999) Leptin concentrations in maternal serum and cord blood: relationship to maternal anthropometry and fetal growth. BRIT J OBSTET GYNAEC , 106 (10) 1054 - 1060.

Geary, M; Wilshin, J; Persaud, M; Hindmarsh, PC; Rodeck, CH; (1999) Murphy's Law and the pregnant medical doctor: is pregnancy outcome worse? J Obstet Gynaecol , 19 (4) 360 - 361. 10.1080/01443619964634.

Giovannoni, G; Silver, NC; O'Riordan, J; Miller, RF; Heales, SJR; Land, JM; ... Thompson, EJ; + view all (1999) Increased urinary nitric oxide metabolites in patients with multiple sclerosis correlates with early and benign disease. Multiple Sclerosis , 5 335 - 341.

Giovannoni, G; Silver, NC; O'Riordan, J; Miller, RF; Heales, SJR; Land, JM; ... Thompson, EJ; + view all (1999) Increased urinary nitric oxide metabolites in patients with multiple sclerosis correlates with early and relapsing disease. MULT SCLER , 5 (5) 335 - 341.

H

Hargreaves, IP; Heales, SJR; Land, JM; (1999) Mitochondrial respiratory chain defects are not accompanied by an increase in the activities of lactate dehydrogenase or manganese superoxide dismutase in paediatric skeletal muscle biopsies. J INHERIT METAB DIS , 22 (8) 925 - 931.

Heales, SJR; (1999) Nitric oxide and the neurodegenerative process. J NEUROCHEM , 73 S213 - S213.

Heales, SJR; (1999) The biochemical investigation of mitochondrial respiratory chain disorders. CPD Bulletin Clinical Biochemistry , 1 (3) 78 - 81.

Heales, SJR; Bolanos, JP; Stewart, VC; Brookes, PS; Land, JM; Clark, JB; (1999) Nitric oxide, mitochondria and neurological disease. BBA-BIOENERGETICS , 1410 (2) 215 - 228.

Heales, SJR; Canevari, L; Brand, MP; Clark, JB; Land, JM; Hyland, K; (1999) Cerebrospinal fluid nitrite plus nitrate correlates with tetrahydrobiopterin concentration. J INHERIT METAB DIS , 22 (3) 221 - 223.

Hindmarsh, PC; Brook, CGD; (1999) Compliance with growth hormone treatment - Is it a problem? HORMONE RESEARCH , 51 104 - 108.

Hindmarsh, PC; Brook, CGD; (1999) Evidence for an association between birth weight and blood pressure. ACTA PAEDIATRICA , 88 66 - 69.

Hindmarsh, PC; Dennison, E; Pincus, SM; Cooper, C; Fall, CHD; Matthews, DR; ... Brook, CGD; + view all (1999) A sexually dimorphic pattern of growth hormone secretion in the elderly. J CLIN ENDOCR METAB , 84 (8) 2679 - 2685.

Hitchins, MP; Monk, D; Wakeling, EL; Proud, V; Stanier, P; Preece, MA; Moore, GE; (1999) De novo tandem duplication of 7p11.2-p12 in a patient with Silver- Russell syndrome and asynchronous replication timing further implicates GRB10 as a candidate gene. The American Journal of Human Genetics , 65 (4 SS) 1532 - ?.

Hitchins, MP; Monk, D; Wakeling, EL; Proud, V; Stanier, P; Preece, MA; Moore, GE; (1999) De novo tandem duplication of 7p11.2-p12 in a patient with Silver-Russell syndrome and asynchronous replication timing further implicates GRB10 as a candidate gene. In: AM J HUM GENET. (pp. A274 - A274). UNIV CHICAGO PRESS

J

Juul, A; Bernasconi, S; Chatelain, P; Hindmarsh, P; Hochberg, Z; Hokken Koelega, A; ... Skakkebaek, NE; + view all (1999) Diagnosis of growth hormone (GH) deficiency and the use of GH in children with growth disorders. Hormone Research , 51 (6) 284 - 299.

L

Lemonde, HA; Johnson, AW; Clayton, PT; (1999) The identification of unusual bile acid metabolites by tandem mass spectrometry: use of low-energy collision-induced dissociation to produce informative spectra. Rapid Commun Mass Spectrom , 13 (12) 1159 - 1164. 10.1002/(SICI)1097-0231(19990630)13:12<1159::AID-RCM636>3.0.CO;2-#.

M

Mc Inerney, AM; Donnai, D; Calveri, M; Bitner-Glindzicz, M; (1999) Multiple etiologies for hemifacial microsomia. In: American Journal of Human Genetics. (pp. 1882 - ?).

Mitchell, H; Dattani, MT; Nanduri, V; Hindmarsh, PC; Preece, MA; Brook, CGD; (1999) Failure of IGF-I and IGFBP-3 to diagnose growth hormone insufficiency. ARCH DIS CHILD , 80 (5) 443 - 447.

Mitchell, H; Geary, M; Persaud, M; Wilshin, J; Brook, C; Marshall, NJ; Hindmarsh, PC; (1999) Ontogeny of growth hormone in the first year of life. Hormone Research , 51 (26) 56 - ?.

Mitchell, H; Jones, J; Pringle, J; Hindmarsh, PC; Brook, C; Marshall, NJ; (1999) The immunofunctional assay for growth hormone compared to immuno- and bio- assays. Journal of Endocrinology , 160 99 - ?.

Moore, GE; Abu-Amero, S; Wakeling, E; Hitchins, M; Monk, D; Stanier, P; Preece, M; (1999) The search for the gene for Silver-Russell syndrome. ACTA PAEDIATRICA , 88 42 - 48.

Moore, GE; AbuAmero, S; Wakeling, E; Hitchins, M; Monk, D; Stanier, P; Preece, M; (1999) The search for the gene for Silver-Russell syndrome. Acta Paediatrica , 88 (S433) 42 - 48.

Mueller, RF; Nehammer, A; Middleton, A; Houseman, M; Taylor, GR; Bitner-Glindzciz, M; ... Lench, NJ; + view all (1999) Congenital non-syndromal sensorineural hearing impairment due to connexin 26 gene mutations--molecular and audiological findings. Int J Pediatr Otorhinolaryngol , 50 (1) 3 - 13.

Mushtaq, I; Logan, S; Morris, M; Johnson, AW; Wade, AM; Kelly, D; Clayton, PT; (1999) Screening of newborn infants for cholestatic hepatobiliary disease with tandem mass spectrometry. BRIT MED J , 319 (7208) 471 - 477.

P

Preece, MA; Abu-Amero, SN; Ali, Z; Abu-Amero, KK; Wakeling, EL; Stanier, P; Moore, GE; (1999) An analysis of the distribution of hetero- and isodisomic regions of chromosome 7 in five mUPD7 Silver-Russell syndrome probands. J MED GENET , 36 (6) 457 - 460.

Preece, MA; AbuAmero, SN; Ali, Z; AbuAmero, KK; Wakeling, EL; Stanier, P; Moore, GE; (1999) An analysis of the distribution of hetero- and isodisomic regions of chromosome 7 in five mUPD7 Silver-Russell syndrome probands. Journal of Medical Genetics , 36 457 - 460.

Prescott, NJ; Kelberman, D; Lees, MM; Winter, RM; Malcolm, S; (1999) Candidate gene analysis of TGFA, EDN-1, and MTHFR, and the influence of maternal smoking in nonsyndromic cleft lip and palate. In: AM J HUM GENET. (pp. A440 - A440). UNIV CHICAGO PRESS

R

Rahman, S; Schapira, AHV; (1999) Mitochondrial myopathies: clinical features, molecular genetics, investigation, and management. In: Schapira, AHV and Griggs, RC, (eds.) Muscle diseases. (117 - 223). Butterworth Heinemann: Boston.

Ramanan, AV; Hussain, K; Kempley, ST; Goodman, FR; (1999) Preaxial polydactyly in an infant with Down's syndrome [3]. Clinical Genetics , 55 (2) 131 - 132. 10.1034/j.1399-0004.1999.550212.x.

Ramaswami, U; Hindmarsh, PC; Brook, CGD; (1999) Growth hormone therapy in hypochondroplasia. ACTA PAEDIATRICA , 88 116 - 117.

Ramaswami, U; Rumsby, G; Spoudeas, HA; Hindmarsh, PC; Brook, CGD; (1999) Treatment of achondroplasia with growth hormone: Six years of experience. PEDIATR RES , 46 (4) 435 - 439.

Raza, J; Hindmarsh, PC; Brook, CGD; (1999) Thyrotoxicosis in children: thirty years' experience. ACTA PAEDIATR , 88 (9) 937 - 941.

Reutens, AT; Achermann, JC; Ito, M; Ito, M; Gu, WX; Habiby, RL; ... Jameson, JL; + view all (1999) Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita. The Journal of Clinical Endocrinology & Metabolism , 84 (2) 504 - 511. 10.1210/jc.84.2.504. Green open access
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S

Seminara, SB; Achermann, JC; Genel, M; Jameson, JL; Crowley, WF; (1999) X-linked adrenal hypoplasia congenita: A mutation in DAX1 expands the phenotypic spectrum in males and females. The Journal of Clinical Endocrinology & Metabolism , 84 (12) 4501 - 4509. 10.1210/jc.84.12.4501. Green open access
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Stewart, VC; Land, JM; Clark, JB; Heales, SJR; (1999) Neuronal mitochondrial respiratory chain damage by astrocytic derived nitric oxide is reversible. J NEUROCHEM , 73 S218 - S218.

Stone, R; Stewart, VC; Hurst, RD; Clark, JB; Heales, SJR; (1999) Astrocyte nitric oxide causes neuronal mitochondrial damage, but antioxidant release limits neuronal cell death. In: Blass, JP and McDowell, FH, (eds.) OXIDATIVE/ENERGY METABOLISM IN NEURODEGENERATIVE DISORDERS. (pp. 400 - 403). NEW YORK ACAD SCIENCES

Strautnieks, SS; Vernier, M; Baker, AJ; Clayton, PT; McKiernan, PJ; Mieli-Vergani, G; Thompson, RJ; (1999) JAG1 mutations in UK Alagille syndrome families. HEPATOLOGY , 30 (4) 380A - 380A.

T

Tranebjaerg, L; Bathen, J; Tyson, J; Bitner-Glindzicz, M; (1999) Jervell and Lange-Nielsen syndrome: A Norwegian perspective. AM J MED GENET , 89 (3) 137 - 146.

Tyson, J; Malcolm, S; Bitner-Glindzicz, M; (1999) Splice mutations in KVLQT1? CIRCULATION , 99 (18) 2476 - 2477.

V

Vega-Agapito, V; Almeida, A; Heales, SJR; Medina, JM; Bolanos, JP; (1999) Peroxynitrite anion stimulates arginine release from cultured rat astrocytes. J NEUROCHEM , 73 (4) 1446 - 1452.

W

Wakeling, E; Monk, D; Hitchins, M; Proud, V; Stanier, P; Preece, MA; Moore, GE; (1999) Duplication of 7p11.2-p12, including GRB10, in Silver-Russell syndrome. In: J MED GENET. (pp. S82 - S82). BRITISH MED JOURNAL PUBL GROUP

Wilson, CJ; Champion, MP; Collins, JE; Clayton, PT; Leonard, JV; (1999) Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis. Arch Dis Child , 80 (5) 459 - 462.

This list was generated on Sun Jul 27 09:35:10 2014 BST.