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Number of items: 74.

A

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

Achermann, JC and Brook, CGD and Robinson, ICAF and Matthews, DR and 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 and Gu, WX and Kotlar, TJ and Meeks, JJ and Sabacan, LP and Seminara, SB and Habiby, RL and Hindmarsh, PC and Bick, DP and Sherins, RJ and Crowley, WF and Layman, LC and Jameson, JL (1999) Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay. J CLIN ENDOCR METAB , 84 (12) 4497 - 4500.

Achermann, JC and Hindmarsh, PC and Robinson, ICAF and Matthews, DR and 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 and Ito, M and Hindmarsh, PC and 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.

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

Achermann, JC and Jameson, JL (1999) Fertility and infertility: Genetic contributions from the hypothalamic-pituitary-gonadal axis. MOL ENDOCRINOL , 13 (6) 812 - 818.

Agwu, JC and Spoudeas, H and Hindmarsh, PC and Pringle, PJ and Brook, CGD (1999) Tests of adrenal insufficiency. ARCH DIS CHILD , 80 (4) 330 - 333.

Akobeng, AK and Clayton, PT and Miller, V and Super, M and 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 and Clayton, PT and Miller, V and Super, M and 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 and Leitch, RJ and Thompson, D and Kriss, A and Charris, D and Clayton, P and 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 and Huang, LQ and Tyson, J and 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 and Moore, GE and 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 and Hindmarsh, PC and Pringle, PJ and Honour, JW and 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 and Hindmarsh, PC and Pringle, PJ and Honour, JW and Brook, CGD (1999) Cortisol, androstenedione (A4), dehydroepiandrosterone sulphate (DHEAS) and 17 hydroxyprogesterone (17(OHP) responses to low doses of (1-24)ACTH (vol 83, pg 3750, 1998). J CLIN ENDOCR METAB , 84 (8) 2972 - 2972.

Bridges, NA and Hindmarsh, PC and Pringle, PJ and Honour, JW and 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.

Brookes, PS and Bolanos, JP and Heales, SJR (1999) The assumption that nitric oxide inhibits mitochondrial ATP synthesis is correct. FEBS LETT , 446 (2-3) 261 - 263.

C

Camacho-Hubner, C and Woods, KA and Miraki-Moud, F and Hindmarsh, PC and Clark, AJ and Hansson, Y and Johnston, A and Baxter, RC and Savage, MO (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 and Land, JM and Clark, JB and 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 and Land, JM and Clark, JB and 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 and Pembrey, M and Turner, G and Barnicoat, A (1999) Diagnosis of fragile-X syndrome: the experiences of parents. J INTELLECT DISABIL RES , 43 (Pt 1) 47 - 53.

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

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 (1999) HESX1: a novel gene implicated in a familial form of septo-optic dysplasia. ACTA PAEDIATRICA , 88 49 - 54.

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

Dennison, E and Hindmarsh, P and Fall, C and Kellingray, S and Barker, D and Phillips, D and 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 and Herschkovitz, R and Pringle, PJ and Rodeck, CH and Hindmarsh, PC (1999) Ontogeny of serum leptin concentrations in the human. CLIN ENDOCRINOL , 51 (2) 189 - 192.

Geary, M and Pringle, PJ and Persaud, M and Wilshin, J and Hindmarsh, PC and Rodeck, CH and 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 and Wilshin, J and Persaud, M and Hindmarsh, PC and 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 and Silver, NC and O'Riordan, J and Miller, RF and Heales, SJR and Land, JM and Elliot, M and Feldmann, M and Miller, DH and Thompson, EJ (1999) Increased urinary nitric oxide metabolites in patients with multiple sclerosis correlates with early and benign disease. Multiple Sclerosis , 5 335 - 341.

Giovannoni, G and Silver, NC and O'Riordan, J and Miller, RF and Heales, SJR and Land, JM and Elliot, M and Feldmann, M and Miller, DH and Thompson, EJ (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 and Heales, SJR and 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 and Bolanos, JP and Stewart, VC and Brookes, PS and Land, JM and Clark, JB (1999) Nitric oxide, mitochondria and neurological disease. BBA-BIOENERGETICS , 1410 (2) 215 - 228.

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

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

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

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

Hitchins, MP and Monk, D and Wakeling, EL and Proud, V and Stanier, P and Preece, MA and 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 and Monk, D and Wakeling, EL and Proud, V and Stanier, P and Preece, MA and 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 and Bernasconi, S and Chatelain, P and Hindmarsh, P and Hochberg, Z and Hokken Koelega, A and Muinck Keizer Schrama, SM and Kiess, W and Oberfield, S and Parks, J and Strasburger, CJ and Volta, C and Westphal, O and Skakkebaek, NE (1999) Diagnosis of growth hormone (GH) deficiency and the use of GH in children with growth disorders. Hormone Research , 51 (6) 284 - 299.

K

Keir, G and Winchester, BG and Clayton, P (1999) Carbohydrate-deficient glycoprotein syndromes: inborn errors of protein glycosylation. Ann Clin Biochem , 36 ( Pt 1) 20 - 36.

L

Lemonde, HA and Johnson, AW and 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 and Donnai, D and Calveri, M and Bitner-Glindzicz, M (1999) Multiple etiologies for hemifacial microsomia. In: American Journal of Human Genetics. (pp. 1882 - ?).

McKoy, G and Ashley, W and Mander, J and Yang, SY and Williams, N and Russell, B and Goldspink, G (1999) Expression of insulin growth factor-1 splice variants and structural genes in rabbit skeletal muscle induced by stretch and stimulation. J PHYSIOL-LONDON , 516 (2) 583 - 592.

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

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

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

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

Moore, GE and Abu-Amero, SN and Wakeling, EL and Hitchins, M and Monk, D and Stanier, P and Preece, MA (1999) The search for the gene for Silver Russell syndrome. Acta Paediatrica , 88 (42) 48 - ?.

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

Mueller, RF and Nehammer, A and Middleton, A and Houseman, M and Taylor, GR and Bitner-Glindzciz, M and Van Camp, G and Parker, M and Young, ID and Davis, A and Newton, VE and Lench, NJ (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 and Logan, S and Morris, M and Johnson, AW and Wade, AM and Kelly, D and 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 and Abu-Amero, SN and Ali, Z and Abu-Amero, KK and Wakeling, EL and Stanier, P and 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 and AbuAmero, SN and Ali, Z and AbuAmero, KK and Wakeling, EL and Stanier, P and 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.

R

Rahman, S and 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.

Rahman, S and Taanman, JW and Cooper, JM and Nelson, I and Hargreaves, I and Meunier, B and Hanna, MG and Garcia, JJ and Capaldi, RA and Lake, BD and Leonard, JV and Schapira, AHV (1999) A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy. AM J HUM GENET , 65 (4) 1030 - 1039.

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

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

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

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

Reutens, AT and Achermann, JC and Ito, M and Ito, M and Gu, WX and Habiby, RL and Donohoue, PA and Pang, SY and Hindmarsh, PC and Jameson, JL (1999) Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita. J CLIN ENDOCR METAB , 84 (2) 504 - 511.

Riethmuller, C and Gorren, ACF and Pitters, E and Hemmens, B and Habisch, HJ and Heales, SJR and Schmidt, K and Werner, ER and Mayer, B (1999) Activation of neuronal nitric-oxide synthase by the 5-methyl analog of tetrahydrobiopterin - Functional, evidence against reductive oxygen activation by the pterin cofactor. J BIOL CHEM , 274 (23) 16047 - 16051.
An open access publication

S

Seminara, SB and Achermann, JC and Genel, M and Jameson, JL and Crowley, WF (1999) X-linked adrenal hypoplasia congenita: A mutation in DAX1 expands the phenotypic spectrum in males and females. J CLIN ENDOCR METAB , 84 (12) 4501 - 4509.

Stewart, VC and Land, JM and Clark, JB and Heales, SJR (1999) Neuronal mitochondrial respiratory chain damage by astrocytic derived nitric oxide is reversible. J NEUROCHEM , 73 S218 - S218.

Stone, R and Stewart, VC and Hurst, RD and Clark, JB and 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 and Vernier, M and Baker, AJ and Clayton, PT and McKiernan, PJ and Mieli-Vergani, G and Thompson, RJ (1999) JAG1 mutations in UK Alagille syndrome families. HEPATOLOGY , 30 (4) 380A - 380A.

T

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

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

V

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

W

Wakeling, E and Monk, D and Hitchins, M and Proud, V and Stanier, P and Preece, MA and 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 and Champion, MP and Collins, JE and Clayton, PT and Leonard, JV (1999) Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis. Arch Dis Child , 80 (5) 459 - 462.

Wolthers, OD and Cameron, FJ and Scheimberg, I and Honour, JW and Hindmarsh, PC and Savage, MO and Stanhope, RG and Brook, CGD (1999) Androgen secreting adrenocortical tumours. ARCH DIS CHILD , 80 (1) 46 - 50.

This list was generated on Sun May 19 11:46:06 2013 BST.