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Number of items: 160.

A

Abu-Amero, S; Moore, G; Regan, L; Rai, R; White, S; Miller, A; ... Whittaker, J; + view all (2009) The Baby Bio Bank of London. JOURNAL OF MEDICAL GENETICS , 46 S113 - S113.

Alatzoglou, KS; Arriazu, MC; Crolla, JA; Roubicek, ME; Dattani, MT; (2009) Incomplete progress through puberty and a large cystic lesion in the hypothalamo-pituitary area in a patient with a heterozygous SOX2 deletion. HORM RES , 72 396 - 396.

Alatzoglou, KS; Arriazu, MC; Crolla, JA; Roubicek, ME; Dattani, MT; (2009) Incomplete progress through puberty and a large cystic lesion in the hypothalamo-pituitary area in a patient with a heterozygous SOX2 deletion. Hormone Research , 72 396 - 396.

Alatzoglou, KS; Dattani, MT; (2009) Genetic forms of hypopituitarism and their manifestation in the neonatal period. Early Human Development , 85 (11) 705 - 712. 10.1016/j.earlhumdev.2009.08.057.

Alatzoglou, KS; Dattani, MT; (2009) Genetic forms of hypopituitarism and their manifestation in the neonatal period. EARLY HUM DEV , 85 (11) 705 - 712. 10.1016/j.earlhumdev.2009.08.057.

Alatzoglou, KS; Hindmarsh, PC; Brain, C; Torpiano, J; Dattani, MT; (2009) Acanthosis nigricans and insulin sensitivity in patients with Acanthosis Nigricans and Insulin Sensitivity in Patients with Achondroplasia and Hypochodroplasia due to FGFR3 Mutations. J Clin Endocrinol Metab , 94 (10) 3959 - 3963.

Alatzoglou, KS; Hindmarsh, PC; Brain, C; Torpiano, J; Dattani, MT; (2009) Acanthosis Nigricans and Insulin Sensitivity in Patients with Achondroplasia and Hypochodroplasia due to FGFR3 Mutations. J CLIN ENDOCR METAB , 94 (10) 3959 - 3963. 10.1210/jc.2009-0322.

Alatzoglou, KS; Kelberman, D; Buchanan, C; Dattani, MT; (2009) Genetic screening for variability in regulatory regions of SOX2 and implications for hypothalamo-pituitary development. HORM RES , 72 85 - 86.

Alatzoglou, KS; Kelberman, D; Buchanan, C; Dattani, MT; (2009) Genetic screening for variability in regulatory regions of SOX2 and implications for hypothalamo-pituitary development. Hormone Research , 72 85 - 86.

Alatzoglou, KS; Kelberman, D; Cowell, CT; Arnhold, IJP; Melo, ME; Mundlos, S; ... Dattani, MT; + view all (2009) Variability in the length of the polyalanine (PA) tract of SOX3 in patients with congenital hypopituitarism is associated with variable functional and phenotypic effects. HORM RES , 72 85 - 85.

Alatzoglou, KS; Kelberman, D; Cowell, CT; Arnhold, IJP; Melo, ME; Mundlos, S; ... Dattani, MT; + view all (2009) Variability in the length of the polyalanine (PA) tract of SOX3 in patients with congenital hypopituitarism is associated with variable functional and phenotypic effects. Hormone Research , 72 85 - 85.

Alatzoglou, KS; Kelberman, D; Dattani, MT; (2009) The role of SOX proteins in normal pituitary development. J ENDOCRINOL , 200 (3) 245 - 258. 10.1677/JOE-08-0447.

Alatzoglou, KS; Mehta, A; Webb, EA; Dattani, MT; (2009) Comparison of the spectrum of endocrinopathies in children with severe midline defects. Hormone Research , 72 85 - 85.

Alatzoglou, KS; Mehta, A; Webb, EA; Dattani, MT; (2009) Comparison of the spectrum of endocrinopathies in children with severe midline defects. HORM RES , 72 85 - 85.

Alatzoglou, KS; Mohan, R; Ward, S; Bridges, N; Hindmarsh, PC; Dattani, MT; (2009) Outcome of rhGH treatment in patients with achondroplasia and skeletal dysplasias. HORM RES , 72 97 - 98.

Alatzoglou, KS; Turton, JP; Kelberman, D; Clayton, PE; Mehta, A; Buchanan, C; ... Dattani, MT; + view all (2009) Expanding the Spectrum of Mutations in GH1 and GHRHR: Genetic Screening in a Large Cohort of Patients with Congenital Isolated Growth Hormone Deficiency. J CLIN ENDOCR METAB , 94 (9) 3191 - 3199. 10.1210/jc.2008-2783.

Allen, GFG; Land, JM; HealeS, SJR; (2009) A new perspective on the treatment of aromatic L-amino acid decarboxylase deficiency. MOL GENET METAB , 97 (1) 6 - 14. 10.1016/j.ymgme.2009.01.010.

Amin, R; Widmer, B; Dalton, RN; Dunger, DB; (2009) Unchanged incidence of microalbuminuria in children with type 1 diabetes since 1986: a UK based inception cohort. Arch Dis Child , 94 (4) 258 - 262. 10.1136/adc.2008.144337.

Auray-Blais, C; Millington, DS; Barr, C; Young, SP; Mills, K; Clarke, JTR; (2009) Gb(3)/creatinine biomarkers for Fabry disease: Issues to consider. MOL GENET METAB , 97 (3) 237 - 237. 10.1016/j.ymgme.2009.04.006.

Avbelj, M; Romero, C; Tziaferi, V; McCabe, M; Zhang, CK; Sidis, Y; ... Pitteloud, N; + view all (2009) New loci for congenital hypopituitarism: overlap with Kallmann syndrome. HORM RES , 72 30 - 31.

B

Bajaj, Y; Sirimanna, T; Albert, DM; Qadir, P; Jenkins, L; Cortina-Borja, M; Bitner-Glindzicz, M; (2009) Causes of deafness in British Bangladeshi children: a prevalence twice that of the UK population cannot be accounted for by consanguinity alone. CLIN OTOLARYNGOL , 34 (2) 113 - 119. 10.1111/j.1749-4486.2009.01888.x.

Beesley, CE; Young, EP; Finnegan, N; Jackson, M; Mills, K; Vellodi, A; ... Winchester, BG; + view all (2009) Discovery of a new biomarker for the mucopolysaccharidoses (MPS), dipeptidyl peptidase IV (DPP-IV; CD26), by SELDI-TOF mass spectrometry. MOL GENET METAB , 96 (4) 218 - 224. 10.1016/j.ymgme.2008.12.002.

Bennett, K.; (2009) The use of proteomics and mass spectrometry to investigate the interactions between proteases and protease inhibitors in the skin barrier. Doctoral thesis, UCL (University College London).

Bitner-Glindzicz, M; Pembrey, M; Duncan, A; Heron, J; Ring, SM; Hall, A; Rahman, S; (2009) Prevalence of Mitochondrial 1555A > G Mutation in European Children. NEW ENGL J MED , 360 (6) 640 - 642.

Bryan, SM; Honour, JW; Hindmarsh, PC; (2009) Management of Altered Hydrocortisone Pharmacokinetics in a Boy with Congenital Adrenal Hyperplasia Using a Continuous Subcutaneous Hydrocortisone Infusion. J CLIN ENDOCR METAB , 94 (9) 3477 - 3480. 10.1210/jc.2009-0630.

C

Christesen, HBT; Brusgaard, K; Thisted, E; Turton, J; Hertel, T; Johansen, KB; ... Dattani, MT; + view all (2009) Ten family members with a growth hormone gene mutation and treatment with growth hormone since 1976. Hormone Research , 72 107 - 107.

Christesen, HBT; Brusgaard, K; Thisted, E; Turton, J; Hertel, T; Johansen, KB; ... Dattani, MT; + view all (2009) Ten family members with a growth hormone gene mutation and treatment with growth hormone since 1976. HORM RES , 72 107 - 107.

Christie, D; Strange, V; Allen, E; Oliver, S; Wong, ICK; Smith, F; ... Elbourne, D; + view all (2009) Maximising engagement, motivation and long term change in a Structured Intensive Education Programme in Diabetes for children, young people and their families: Child and Adolescent Structured Competencies Approach to Diabetes Education (CASCADE). BMC Pediatrics , 9 , Article 57. 10.1186/1471-2431-9-57. Green and gold open access
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Clayton, PT; Grunewald, S; (2009) Comprehensive description of the phenotype of the first case of congenital disorder of glycosylation due to RFT1 deficiency (CDG In). J Inherit Metab Dis , 32 Suppl 1 S137 - S139. 10.1007/s10545-009-1108-x.

Clayton, PT; Grunewald, S; (2009) Comprehensive description of the phenotype of the first case of congenital disorder of glycosylation due to RFT1 deficiency (CDG In). Journal of inherited metabolic disease , 32 Suppl 1

Cliffe, ST; Kramer, JM; Hussain, K; Robben, JH; de Jong, EK; de Brouwer, AP; ... Buckley, MF; + view all (2009) SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway. HUM MOL GENET , 18 (12) 2257 - 2265. 10.1093/hmg/ddp161.

Collaer, ML; Brook, CGD; Conway, GS; Hindmarsh, PC; Hines, M; (2009) Motor development in individuals with congenital adrenal hyperplasia: Strength, targeting, and fine motor skill. PSYCHONEUROENDOCRINO , 34 (2) 249 - 258. 10.1016/j.psyneuen.2008.09.007.

Cullinane, AR; Straatman-Iwanowska, A; Seo, JK; Ko, JS; Song, KS; Gizewska, M; ... Gissen, P; + view all (2009) Molecular Investigations to Improve Diagnostic Accuracy in Patients With ARC Syndrome. HUM MUTAT , 30 (2) E330 - E337. 10.1002/humu.20900.

D

Daelemans, C; Ritchie, M; Abu-Amero, S; Sudbery, IM; Stanier, P; Forrest, MS; ... Dunham, I; + view all (2009) Assessment of candidate imprinted genes in the human term placenta. In: GENETICS RESEARCH. (pp. 136 - 136). CAMBRIDGE UNIV PRESS

Dattani, MT; (2009) The candidate gene approach to the diagnosis of monogenic disorders. Hormone Research , 71 (SUPPL. 2) 14 - 21. 10.1159/000192431.

Dattani, MT; (2009) The Candidate Gene Approach to the Diagnosis of Monogenic Disorders. HORMONE RESEARCH , 71 14 - 21. 10.1159/000192431.

Davison, E; MacPherson, L; Davies, N; Chakrapani, A; Sun, Y; Hendriksz, C; ... Gissen, P; + view all (2009) NEURAL DAMAGE IN PROPIONIC ACIDAEMIA: A MAGNETIC RESONANCE SPECTROSCOPY WINDOW TO DISEASE PATHOGENESIS. In: MOLECULAR GENETICS AND METABOLISM. (pp. 13 - 13). ACADEMIC PRESS INC ELSEVIER SCIENCE

de Smith, AJ; Purmann, C; Walters, RG; Ellis, RJ; Holder, SE; Van Haelst, MM; ... Blakemore, AIF; + view all (2009) A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism. HUM MOL GENET , 18 (17) 3257 - 3265. 10.1093/hmg/ddp263.

de Smith, AJ; Purmann, C; Walters, RG; Ellis, RJ; Holder, SE; van Haelst, MM; ... Blakemore, AIF; + view all (2009) Elucidating the aetiology of Prader-Willi syndrome: deletion of the HBII-85 class of snoRNA is associated with hyperphagia, obesity and hypogonadism. JOURNAL OF MEDICAL GENETICS , 46 S83 - S83.

Di Fonzo, A; Ronchi, D; Lodi, T; Fassone, E; Tigano, M; Lamperti, C; ... Comi, GP; + view all (2009) The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency. Am J Hum Genet , 84 (5) 594 - 604. 10.1016/j.ajhg.2009.04.004.

Dixon, PH; van Mil, SWC; Chambers, J; Strautnieks, S; Thompson, RJ; Lammert, F; ... Williamson, C; + view all (2009) Contribution of variant alleles of ABCB11 to susceptibility to intrahepatic cholestasis of pregnancy. GUT , 58 (4) 537 - 544. 10.1136/gut.2008.159541.

Doudney, K; Grinham, J; Whittaker, J; Lynch, SA; Thompson, D; Moore, GE; ... Stanier, P; + view all (2009) Evaluation of Folate Metabolism Gene Polymorphisms as Risk Factors for Open and Closed Neural Tube Defects. AM J MED GENET A , 149A (7) 1585 - 1589. 10.1002/ajmg.a.32937.

Duncan, AJ; Bitner-Glindzicz, M; Meunier, B; Costello, H; Hargreaves, IP; Lopez, LC; ... Rahman, S; + view all (2009) A Nonsense Mutation in COQ9 Causes Autosomal-Recessive Neonatal-Onset Primary Coenzyme Q(10) Deficiency: A Potentially Treatable Form of Mitochondrial Disease. AM J HUM GENET , 84 (5) 558 - 566. 10.1016/j.ajhg.2009.03.018. Gold open access

Duncan, AJ; Hargreaves, IP; Damian, MS; Land, JM; Heales, SJ; (2009) Decreased ubiquinone availability and impaired mitochondrial cytochrome oxidase activity associated with statin treatment. Toxicol Mech Methods , 19 (1) 44 - 50. 10.1080/15376510802305047.

Duncan, AJ; Hargreaves, IP; Damian, MS; Land, JM; Heales, SJR; (2009) Decreased Ubiquinone Availability and Impaired Mitochondrial Cytochrome Oxidase Activity Associated With Statin Treatment. TOXICOL MECH METHOD , 19 (1) 44 - 50. 10.1080/15376510802305047.

E

Ebberink, MS; Mooyer, PAW; Koster, J; Dekker, CJM; Eyskens, FJM; Dionisi-Vici, C; ... Waterham, HR; + view all (2009) Genotype-Phenotype Correlation in PEX5-Deficient Peroxisome Biogenesis Defective Cell Lines. HUM MUTAT , 30 (1) 93 - 98. 10.1002/humu.20833.

Edghill, EL; Hameed, S; Verge, CF; Rubio-Cabezas, O; Argente, J; Sumnik, Z; ... Attersley, AT; + view all (2009) Mutations in the SLC29A3 gene are not a common cause of isolated autoantibody negative type 1 diabetes. JOP , 10 (4) 457 - 458.

F

Ferraz-de-Souza, B; Lin, L; Achermann, JC; (2009) Adrenals. In: Carel, JC and Hochberg, Z, (eds.) Yearbook of pediatric endocrinology 2009. (93 - 110). Karger: Basel.

Ferraz-De-Souza, B; Martin, F; Mallet, D; Hudson-Davies, RE; Cogram, P; Lin, L; ... Achermann, JC; + view all (2009) CBP/p300-Interacting Transactivator, with Glu/Asp-Rich C-Terminal Domain, 2, and Pre-B-Cell Leukemia Transcription Factor 1 in Human Adrenal Development and Disease. The Journal of Clinical Endocrinology & Metabolism , 94 (2) 678 - 683. 10.1210/jc.2008-1064. Green open access
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Foolitt, EJ; Mills, PB; Heales, SJ; Prabhakar, P; Clayton, PT; (2009) PATHOGENESIS OF NEUROLOGICAL DYSFUNCTION IN MOLYBDENUM COFACTOR DEFICIENCY. In: MOLECULAR GENETICS AND METABOLISM. (pp. 101 - 101). ACADEMIC PRESS INC ELSEVIER SCIENCE

Fratter, C; Gorman, G; Stewart, JD; Buddles, M; Smith, C; Evans, J; ... Taylor, RW; + view all (2009) Autosomal dominant Progressive External Ophthalmoplegia (adPEO) due to mutations in the PEO1 gene: A clinical, histochemical and molecular survey of 33 patients. In: NEUROMUSCULAR DISORDERS. (pp. 562 - 562). PERGAMON-ELSEVIER SCIENCE LTD

G

Gammerman, A; Vovk, V; Burford, B; Nouretdinov, I; Luo, ZY; Chervonenkis, A; ... Jacobs, I; + view all (2009) Serum Proteomic Abnormality Predating Screen Detection of Ovarian Cancer. COMPUT J , 52 (3) 326 - 333. 10.1093/comjnl/bxn021.

Gaston-Massuet, C; Kelberman, D; Dattani, M; Martinez-Barbera, JP; (2009) Absence of SIX3 Mutations in Patients With Congenital Hypopituitarism. AM J MED GENET A , 149A (12) 2874 - 2876. 10.1002/ajmg.a.33103.

Gaston-Massuet, C; Martinez-Barbera, JP; Kelberman, D; Dattani, M; (2009) Absence of SIX3 mutations in patients with congenital hypopituitarism. American Journal of Medical Genetics, Part A , 149 (12) 2874 - 2876. 10.1002/ajmg.a.33103.

Gault, EJ; Perry, RJ; Cole, TJ; Paterson, WF; Dunger, DB; Hindmarsh, PC; ... Donaldson, MDC; + view all (2009) Final height in Turner syndrome is improved by oxandrolone but not late pubertal induction (14 vs 12 years): results of a UK randomised, double-blind, placebo-controlled study. HORM RES , 72 316 - 317.

Gevers, EF; Dattani, MT; Waters, MJ; Robinson, IC; (2009) Growth hormone (GH) signaling in early life in rodents. Hormone Research , 72 276 - 277.

Gevers, EF; Dattani, MT; Waters, MJ; Robinson, IC; (2009) Growth hormone (GH) signaling in early life in rodents. HORM RES , 72 276 - 277.

Gissen, P; Knisely, AS; (2009) Inheritable Cholestatic Disorders. The Liver: Biology and Pathobiology: Fifth Edition 659 - 679. 10.1002/9780470747919.ch42.

Glancy, M; Wang, R; Edwards, S; Stubbs, P; Vince, C; Bitner-Glindzicz, M; ... Palmer, R; + view all (2009) Low level aneuploidy mosaicism detected by array CGH. In: JOURNAL OF MEDICAL GENETICS. (pp. S19 - S19). B M J PUBLISHING GROUP

Gozzi, T; Tonella, P; Scheidegger, U; Fluck, CE; L'Allemand, D; Dattani, MT; ... Mullis, PE; + view all (2009) Do centimetres matter: inaccuracy of self-reported and estimated height measurements in parents? HORM RES , 72 280 - 281.

H

Heales, SJR; (2009) Glutathione, mitochondrial function and neurodegeneration. In: JOURNAL OF NEUROCHEMISTRY. (pp. 268 - 269). WILEY-BLACKWELL PUBLISHING, INC

Hindmarsh, PC; (2009) How do you initiate oestrogen therapy in a girl who has not undergone puberty? CLIN ENDOCRINOL , 71 (1) 7 - 10. 10.1111/j.1365-2265.2009.03553.x.

Hindmarsh, PC; (2009) Management of the child with congenital adrenal hyperplasia. BEST PRACT RES CL EN , 23 (2) 193 - 208. 10.1016/j.beem.2008.10.010.

Hindmarsh, PC; O'Riordan, SMP; (2009) Pediatric Estimated Average Glucose from Continuous Glucose Monitoring in Children and Young People with Type 1 Diabetes Mellitus. In: DIABETES. (pp. A461 - A461). AMER DIABETES ASSOC

Hooper, C; Pinteaux-Jones, F; Fry, VAH; Sevastou, IG; Baker, D; Heales, SJ; Pocock, JM; (2009) Differential effects of albumin on microglia and macrophages; implications for neurodegeneration following blood-brain barrier damage. J NEUROCHEM , 109 (3) 694 - 705. 10.1111/j.1471-4159.2009.05953.x.

Hooper, C; Pinteaux-Jones, F; Fry, VAH; Sevastou, IG; Baker, D; Heales, SJ; Pocock, JM; (2009) Differential effects of albumin on microglia and macrophages; implications for neurodegeneration following blood-brain barrier damage. Journal of Neurochemistry , 109 (3) 694 - 705. 10.1111/j.1471-4159.2009.05953.x.

Howard, S; Raine, J; Dattani, M; (2009) Corneal rupture in a child with Down syndrome and hyperthyroidism. BMJ Case Rep , 2009 10.1136/bcr.08.2008.0842.

Hsia, YF; Neubert, AC; Rani, F; Viner, RM; Hindmarsh, PC; Wong, ICK; (2009) An increase in the prevalence of type 1 and 2 diabetes in children and adolescents: results from prescription data from a UK general practice database. BRIT J CLIN PHARMACO , 67 (2) 242 - 249. 10.1111/j.1365-2125.2008.03347.x. Gold open access

Hudson-Davies, RE; Bryan, S; Lin, L; Palmer, T; Timpson, N; Hindmarsh, PC; Achermann, JC; (2009) Polymorphic variability in steroidogenic factor-1 (SF-1, NR5A1, Ad4BP) related to growth and blood pressure in children. HORM RES , 72 93 - 93.

Hussain, K; Padidela, R; Kapoor, RR; James, C; Banerjee, K; Harper, J; ... Hennekam, RCM; + view all (2009) Diabetes mellitus, exocrine pancreatic deficiency, hypertrichosis, hyperpigmentation, and chronic inflammation: confirmation of a syndrome. PEDIATR DIABETES , 10 (3) 193 - 197. 10.1111/j.1399-5448.2008.00470.x.

I

Ismail, D; Kuehnen, P; Kapoor, R; Blankenstein, O; Hussain, K; (2009) Congenital hyperinsulinism associated with signs of cerebellar dysfunction not related to hypoglycaemic brain injury. Hormone Research , 72 298 - 298.

J

James, C; Kapoor, RR; Ismail, D; Hussain, K; (2009) The genetic basis of congenital hyperinsulinism. J MED GENET , 46 (5) 289 - 299. 10.1136/jmg.2008.064337.

Jayakody, SA; Gaston-Massuet, C; Andoniadou, CL; Dattani, M; Matinez-Barbera, JP; (2009) Molecular analysis of Hesx1 function in pituitary and hypothalamic development. MECHANISMS OF DEVELOPMENT , 126 S135 - S135. 10.1016/j.mod.2009.06.280.

K

Kapoor, R. R; Flanagan, S. E; Fulton, P.; Chakrapani, A.; Chadefaux, B.; Ben-Omran, T.; ... Hussain, K.; + view all (2009) Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations. European Journal of Endocrinology , 161 (5) pp. 731-735. 10.1530/EJE-09-0615. Green open access
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Kapoor, RR; Flanagan, SE; Fulton, P; Chakrapani, A; Chadefaux, B; Banerjee, I; ... Hussain, K; + view all (2009) Hyperinsulinism-hyperammonaemia (HI/HA) syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations. Hormone Research , 72 298 - 298.

Kapoor, RR; Flanagan, SE; Fulton, P; Chakrapani, A; Chadefaux, B; Ben-Omran, T; ... Hussain, K; + view all (2009) Hyperinsulinism-hyperammonaemia syndrome: novel mutations in. Eur J Endocrinol , 161 (5) 731 - 735.

Kapoor, RR; Flanagan, SE; Fulton, P; Chakrapani, A; Chadefaux, B; Ben-Omran, T; ... Hussain, K; + view all (2009) Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations. EUR J ENDOCRINOL , 161 (5) 731 - 735. 10.1530/EJE-09-0615. Gold open access

Kapoor, RR; Flanagan, SE; James, C; Shield, J; Ellard, S; Hussain, K; (2009) Hyperinsulinaemic hypoglycaemia. ARCH DIS CHILD , 94 (6) 450 - 457. 10.1136/adc.2008.148171.

Kapoor, RR; Flanagan, SE; Mali, G; Shield, JP; Hussain, K; Ellard, S; (2009) Prevalence of HNF4A gene mutations in patients with diazoxide responsive hyperinsulinism. Hormone Research , 72 299 - 299.

Kapoor, RR; Flanagan, SE; Shield, JP; Sian, E; Hussain, K; (2009) Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. Hormone Research , 72 38 - 38.

Kapoor, RR; James, C; Flanagan, SE; Ellard, S; Eaton, S; Hussain, K; (2009) 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency and Hyperinsulinemic Hypoglycemia: Characterization of a Novel Mutation and Severe Dietary Protein Sensitivity. J CLIN ENDOCR METAB , 94 (7) 2221 - 2225. 10.1210/jc.2009-0423.

Kapoor, RR; James, C; Hussain, K; (2009) Advances in the diagnosis and management of hyperinsulinemic hypoglycemia. NAT CLIN PRACT ENDOC , 5 (2) 101 - 112. 10.1038/ncpendmet1046.

Kapoor, RR; James, C; Hussain, K; (2009) Hyperinsulinism in Developmental Syndromes. ENDOCRINE INVOLVEMENT IN DEVELOPMENTAL SYNDROMES , 14 95 - 113.

Köhler, B.; Lin, L.; Mazen, I.; Cetindag, C.; Biebermann, H.; Akkurt, I.; ... Achermann, J.C.; + view all (2009) The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency. European Journal of Endocrinology , 161 (2) pp. 237-242. 10.1530/EJE-09-0067. Green open access
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Kelberman, D; Dattani, MT; (2009) Role of transcription factors in midline central nervous system and pituitary defects. Endocrine Development , 14 67 - 82. 10.1159/000207478.

Kelberman, D; Dattani, MT; (2009) Role of Transcription Factors in Midline Central Nervous System and Pituitary Defects. ENDOCRINE INVOLVEMENT IN DEVELOPMENTAL SYNDROMES , 14 67 - 82.

Kelberman, D; Dattani, MT; Rizzoti, K; Lovell-Badge, R; Robinson, ICAF; (2009) Genetic regulation of pituitary gland development in human and mouse. Endocrine Reviews , 30 (7) 790 - 829. 10.1210/er.2009-0008.

Kelberman, D; Rizzoti, K; Lovell-Badge, R; Robinson, ICAF; Dattani, MT; (2009) Genetic Regulation of Pituitary Gland Development in Human and Mouse. ENDOCR REV , 30 (7) 790 - 829. 10.1210/er.2009-0008.

Kelberman, D; Turton, JPG; Woods, KS; Mehta, A; Al-Khawari, M; Greening, J; ... Dattani, MT; + view all (2009) Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD). CLIN ENDOCRINOL , 70 (1) 96 - 103. 10.1111/j.1365-2265.2008.03326.x.

Kelberman, D.; Rizzoti, K.; Lovell-Badge, R.; Robinson, I. C. A. F.; Dattani, M. T.; (2009) Genetic regulation of pituitary gland development in human and mouse. Endocrine Reviews , 30 (7) pp. 790-829. 10.1210/er.2009-0008. Green open access
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Kinsler, V; Bulstrode, N; (2009) The role of surgery in the management of congenital melanocytic naevi in children: a perspective from Great Ormond Street Hospital. J Plast Reconstr Aesthet Surg , 62 (5) 595 - 601. 10.1016/j.bjps.2008.12.016.

Kinsler, VA; Birley, J; Atherton, DJ; (2009) Great Ormond Street Hospital for Children Registry for congenital melanocytic naevi: prospective study 1988-2007. Part 1-epidemiology, phenotype and outcomes. Br J Dermatol , 160 (1) 143 - 150. 10.1111/j.1365-2133.2008.08849.x.

Kinsler, VA; Birley, J; Atherton, DJ; (2009) Great Ormond Street Hospital for Children Registry for Congenital Melanocytic Naevi: prospective study 1988-2007. Part 2--Evaluation of treatments. Br J Dermatol , 160 (2) 387 - 392. 10.1111/j.1365-2133.2008.08901.x.

Kohler, B; Lin, L; Mazen, I; Cetindag, C; Biebermann, H; Akkurt, I; ... Achermann, JC; + view all (2009) The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency. EUR J ENDOCRINOL , 161 (2) 237 - 242. 10.1530/EJE-09-0067. Gold open access

Kosta, K; Gkourogianni, A; Alatzoglou, KS; Hindmarsh, PC; Dattani, MT; (2009) Investigation of premature adrenarche reveals a high incidence of congenital adrenal hyperplasia (CAH). HORM RES , 72 207 - 207.

Kumaran, A; Kapoor, RR; Flanagan, SE; Ellard, S; Hussain, K; (2009) Familial post prandial hyperinsulinaemic hypoglycaemia. HORM RES , 72 299 - 299.

Kurian, M; Morgan, NV; Pasha, S; Meyer, E; Rahman, F; Vassallo, G; ... Maher, ER; + view all (2009) Molecular Genetic Investigation of Autosomal Recessive Cryptogenic Infantile Spasms (ARCIS): Evidence of Clinical and Genetic Locus Heterogeneity. In: JOURNAL OF MEDICAL GENETICS. (pp. S67 - S67). B M J PUBLISHING GROUP

Kurian, M; Rehal, P; Morgan, NV; Gissen, P; MacDonald, F; Maher, ER; (2009) Phenotypic Spectrum of PLA2G6-related disorders: Infantile, Childhood and Adult Onset Presentation of Phospholiapse Associated Neurodegeneration (PLAN). In: JOURNAL OF MEDICAL GENETICS. (pp. S39 - S39). B M J PUBLISHING GROUP

Kurian, M; Zhen, J; Cheng, SY; Li, Y; Mordekar, S; Jardine, P; ... Maher, ER; + view all (2009) Homozygous Loss-of-Function Mutations in the Dopamine Transporter (DAT), SLC6A3 Cause Infantile Parkinsonism-Dystonia (IPD). In: JOURNAL OF MEDICAL GENETICS. (pp. S16 - S16). B M J PUBLISHING GROUP

Kurian, MA; Zhen, J; Cheng, SY; Li, Y; Mordekar, SR; Jardine, P; ... Maher, ER; + view all (2009) Homozygous Loss-of-Function Mutations in the Dopamine Transporter (DAT), SLC6A3, are Associated With Infantile Parkinsonism-Dystonia (IPD). In: ANNALS OF NEUROLOGY. (pp. S101 - S101). WILEY-LISS

Kurian, MA; Zhen, J; Cheng, SY; Li, Y; Mordekar, SR; Jardine, P; ... Maher, ER; + view all (2009) Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia. J CLIN INVEST , 119 (6) 1595 - 1603. 10.1172/JCI39060.

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Lin, L; Achermann, JC; (2009) Disorders of sex development. In: Kehoe, S and Chitty, L and Homfray, T, (eds.) Reproductive genetics. (15 - 33). RCOG press: London.

Lourenco, D; Brauner, R; Lin, L; De Perdigo, A; Weryha, G; Muresan, M; ... Bashamboo, A; + view all (2009) Mutations in NR5A1 Associated with Ovarian Insufficiency. NEW ENGL J MED , 360 (12) 1200 - 1210.

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Malik, AN; Shahni, R; Iqbal, M; (2009) Increased peripheral blood mitochondrial DNA in Type 2 diabetic patients with nephropathy. Diabetes Research & Clinical Practice , 88 e22 - e24.

Manson, JJ; Jury, E; Mills, K; Isenberg, DA; Rahman, A; (2009) THE PODOCYTE IN LUPUS NEPHRITIS: HOW DO PATHOGENIC AUTOANTIBODIES EXERT THEIR EFFECT? RHEUMATOLOGY , 48 I47 - I47.

Mehta, A; Hindmarsh, PC; Mehta, H; Turton, JPG; Russell-Eggitt, I; Taylor, D; ... Dattani, MT; + view all (2009) Congenital hypopituitarism: clinical, molecular and neuroradiological correlates. CLIN ENDOCRINOL , 71 (3) 376 - 382. 10.1111/j.1365-2265.2009.03572.x.

Menao, S; Puisac, B; Arnedo, M; Moreno, S; Ramos, M; Gil, MC; ... Hegardt, FG; + view all (2009) Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria. Human Mutation , 30 (3) 10.1002/humu.20966.

Metherell, L. A.; Naville, D.; Halaby, G.; Begeot, M.; Huebner, A.; Nurnberg, G.; ... Clark, A. J. L.; + view all (2009) Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency. Journal of Clinical Endocrinology and Metabolism , 94 (10) pp. 3865-3871. 10.1210/jc.2009-0467. Green open access
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Metherell, LA; Naville, D; Halaby, G; Begeot, M; Huebner, A; Nurnberg, G; ... Clark, AJL; + view all (2009) Nonclassic Lipoid Congenital Adrenal Hyperplasia Masquerading as Familial Glucocorticoid Deficiency. The Journal of Clinical Endocrinology & Metabolism , 94 (10) 3865 - 3871. 10.1210/jc.2009-0467. Green and gold open access
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Mills, PB; Footitt, EJ; Chong, WK; Struys, EA; Jakobs, C; Clayton, PT; (2009) PYRIDOXINE-DEPENDENT EPILEPSY - AN EXPANDING CLINCAL SPECTRUM. In: MOLECULAR GENETICS AND METABOLISM. (pp. 17 - 17). ACADEMIC PRESS INC ELSEVIER SCIENCE

Minton, JAL; Rubio-Cabezas, O; Patch, AM; Flanagan, SF; Edghill, E; Hussain, K; ... Ellard, S; + view all (2009) Homozygosity mapping as a novel tool to identify patients with Wolcott-Rallison syndrome among infants with permanent neonatal diabetes. Journal of Medical Genetics , 46 S90 - S90.

Monk, D; Arnaud, P; Frost, J; Hills, FA; Stanier, P; Feil, R; Moore, GE; (2009) Reciprocal imprinting of human GRB10 in placental trophoblast and brain: evolutionary conservation of reversed allelic expression. HUM MOL GENET , 18 (16) 3066 - 3074. 10.1093/hmg/ddp248.

Munot, P; Pitt, M; Hamilton, S; Reilly, MM; Rahman, S; Poulton, J; Manzur, AY; (2009) Early Onset Neuropathy of Mitochondrial Neurogastrointestinal Encephalomyopathy Mimicking Chronic Inflammatory Demyelinating Polyneuropathy in Childhood. In: Journal of the Peripheral Nervous System. (pp. 103 - 104).

Munot, P; Pitt, M; Hamilton, S; Reilly, MM; Rahman, S; Poulton, J; Manzur, AY; (2009) EARLY ONSET NEUROPATHY OF MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY MIMICKING CHRONIC INFLAMMATORY DEMYELINATING POLYNEUROPATHY IN CHILDHOOD. In: JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. (pp. 103 - 104). WILEY-BLACKWELL PUBLISHING, INC

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O'Reilly, M; Webb, E; Dale, N; Salt, A; Dattani, M; (2009) Growth hormone deficiency is associated with selective deficits of memory and executive function in children. HORM RES , 72 260 - 260.

O'Riordan, SMP; Arlt, W; Dattani, M; (2009) P450 oxidoreductase deficiency at puberty in a 46, XY individual with Antley-Bixler syndrome. HORM RES , 72 343 - 343.

O'Riordan, SMP; Hindmarsh, PC; (2009) Estimated average glucose in children and young people with type 1 diabetes mellitus derived from continuous glucose monitoring. HORM RES , 72 328 - 328.

O'Riordan, SMP; Hindmarsh, PC; Hill, NR; Matthews, DR; Hoey, HMCV; (2009) Calculator To Analyse Data from Continuous Glucose Monitoring in Children and Adolescents with Cystic Fibrosis Related Diabetes. In: DIABETES. (pp. A458 - A458). AMER DIABETES ASSOC

O'Riordan, SMP; Hindmarsh, PC; Hill, NR; Matthews, DR; Roche, EF; Murphy, N; ... Hoey, HMCV; + view all (2009) Validation of Continuous Glucose Monitoring in Children and Adolescents with Cystic Fibrosis Related Diabetes a Prospective Cohort Study. In: DIABETES. (pp. A111 - A111). AMER DIABETES ASSOC

Oppenheim, MLS; Hargreaves, IP; Pope, S; Land, JM; Heales, SJR; (2009) Mitochondrial cytochrome c release: a factor to consider in mitochondrial disease? J INHERIT METAB DIS , 32 (2) 269 - 273. 10.1007/s10545-009-1061-8.

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Padidela, R; Bryan, S; Hudson-Davies, RE; Achermann, JC; Humpries, SE; Hindmarsh, PC; (2009) A common polymorphism in the insulin-like growth factor 2 gene is associated with birth size and size at 3 years of age. HORM RES , 72 243 - 243.

Padidela, R; James, C; Cliffe, ST; Kramer, JM; Robben, JH; de Jong, EK; ... Hussain, K; + view all (2009) Pigmentary hypertrichosis and insulin dependent diabetes mellitus (PHID) is caused by mutations in the SLC29A3 gene encoding the human equilibrative nucleoside transporter-3 protein (hENT3). Hormone Research , 72 39 - 39.

Padidela, R; Kelberman, D; Press, M; Al-Khawari, M; Hindmarsh, PC; Dattani, MT; (2009) Mutation in the TBCE Gene Is Associated with Hypoparathyroidism-Retardation-Dysmorphism Syndrome Featuring Pituitary Hormone Deficiencies and Hypoplasia of the Anterior Pituitary and the Corpus Callosum. J CLIN ENDOCR METAB , 94 (8) 2686 - 2691. 10.1210/jc.2008-2788.

Padidela, R; Patterson, M; Sharief, N; Ghatei, M; Hussain, K; (2009) Elevated basal and post-feed glucagon-like peptide 1 (GLP-1) concentrations in the neonatal period. EUR J ENDOCRINOL , 160 (1) 53 - 58. 10.1530/EJE-08-0807.

Panagiotakopoulos, L; Webb, EA; Ebstein, DJ; Dattani, MT; (2009) How commonly are mutations in the sonic hedgehog signaling pathway found in individuals with septo-optic dysplasia and holoprosencephaly? Hormone Research , 72 243 - 244.

Park, S; Jamshidi, Y; Vaideanu, D; Bitner-Glindzicz, M; Fraser, S; Sowden, JC; (2009) Genetic risk for primary open-angle glaucoma determined by LMX1B haplotypes. Invest Ophthalmol.Vis.Sci. , 50 (4) 1522 - 1530.

Park, S; Jamshidi, Y; Vaideanu, D; Bitner-Glindzicz, M; Fraser, S; Sowden, JC; (2009) Genetic Risk for Primary Open-Angle Glaucoma Determined by LMX1B Haplotypes. In: INVEST OPHTH VIS SCI. (pp. 1522 - 1530). ASSOC RESEARCH VISION OPHTHALMOLOGY INC

Pauws, E; Hoshino, A; Bentley, L; Prajapati, S; Keller, C; Hammond, P; ... Stanier, P; + view all (2009) Tbx22(null) mice have a submucous cleft palate due to reduced palatal bone formation and also display ankyloglossia and choanal atresia phenotypes. HUM MOL GENET , 18 (21) 4171 - 4179. 10.1093/hmg/ddp368. Gold open access

Pauws, E; Hoshino, A; Bentley, L; Prajapati, S; Keller, C; Martinez-Barbera, JP; ... Stanier, P; + view all (2009) Loss of Tbx22 causes submucous cleft palate, ankyloglossia and choanal atresia. In: MECHANISMS OF DEVELOPMENT. (pp. S122 - S122). ELSEVIER SCIENCE BV

Pauws, E; Moore, GE; Stanier, P; (2009) A functional haplotype variant in the TBX22 promoter is associated with cleft palate and ankyloglossia. J MED GENET , 46 (8) 555 - 561. 10.1136/jmg.2009.066902.

Pauws, E.; Hoshino, A.; Bentley, L.; Prajapati, S.; Keller, C.; Hammond, P.; ... Stanier, P.; + view all (2009) Tbx22null mice have a submucous cleft palate due to reduced palatal bone formation and also display ankyloglossia and choanal atresia phenotypes. Human Molecular Genetics , 18 (21) pp. 4171-4179. 10.1093/hmg/ddp368. Green open access
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Peters, CJ; Geary, MP; Kingdom, JCP; Jones, PM; Robinson, ICAF; Hindmarsh, PC; (2009) First trimester glycaemia influences birth weight. HORM RES , 72 421 - 421.

Peters, CJ; Geary, MP; Kingdom, JCP; Jones, PM; Robinson, ICAF; Hindmarsh, PC; (2009) Parity is associated with an increased maternal body mass index, higher blood glucose and insulin at 10 weeks of gestation. HORM RES , 72 421 - 422.

Peters, CJ; Langham, SA; Mullis, PE; Dattani, MT; (2009) The use of combined liothyronine and thyroxine therapy for consumptive hypothyroidism associated with hepatic haemangiomas in infancy. Hormone Research , 72 451 - 451.

Pocock, J; Davenport, C; Sevastou, I; Heales, S; (2009) The inhibition of p53 pathways in microglia attenuates microglial-evoked neurotoxicity following exposure to Alzheimer peptides. In: (Proceedings) 9th International Conference AD/PD 2009. (pp. 37 - ?).

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Rahman, S; Duncan, AJ; Bitner-Glindziez, M; Meunier, B; Costello, H; Hargreaves, IP; ... Clayton, PT; + view all (2009) A NEW GENETIC CAUSE OF PRIMARY COENZYME Q10 DEFICIENCY. In: MOLECULAR GENETICS AND METABOLISM. (pp. 5 - 5). ACADEMIC PRESS INC ELSEVIER SCIENCE

Rahman, S; Hanna, MG; (2009) Diagnosis and therapy in neuromuscular disorders: diagnosis and new treatments in mitochondrial diseases. J NEUROL NEUROSUR PS , 80 (9) 943 - 953. 10.1136/jnnp.2008.158279.

Rahman, S; Poulton, J; (2009) Diagnosis of mitochondrial DNA depletion syndromes. ARCH DIS CHILD , 94 (1) 3 - 5. 10.1136/adc.2008.147983.

Rubio-Cabezas, O; Patch, A-M; Minton, JAL; Flanagan, SE; Edghill, EL; Hattersley, AT; ... Mutair, A; + view all (2009) Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families. Journal of Clinical Endocrinology and Metabolism , 94 (11) 4162 - 4170. 10.1210/jc.2009-1137.

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Schulz, R; McCole, RB; Woodfine, K; Wood, AJ; Chahal, M; Monk, D; ... Oakey, RJ; + view all (2009) Transcript- and tissue-specific imprinting of a tumour suppressor gene. HUM MOL GENET , 18 (1) 118 - 127. 10.1093/hmg/ddn322.

Segal, TY; Mehta, A; Anazodo, A; Hindmarsh, PC; Dattani, MT; (2009) Role of Gonadotropin-Releasing Hormone and Human Chorionic Gonadotropin Stimulation Tests in Differentiating Patients with Hypogonadotropic Hypogonadism from Those with Constitutional Delay of Growth and Puberty. J CLIN ENDOCR METAB , 94 (3) 780 - 785. 10.1210/jc.2008-0302.

Sevastou, IG; Heales, SJ; Pocock, JM; (2009) MODULATION OF MICROGLIAL INDUCED OLIGODENDROCYTE TOXICITY IN MULTIPLE SCLEROSIS. In: GLIA. (pp. S68 - S68). WILEY-LISS

Shanti, B; Bhattacharya, K; Christodoulou, J; Silink, M; Howard, NJ; Carpenter, K; ... Clayton, P; + view all (2009) Congenital disorder of glycosylation type Ia: Heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency. Journal of Inherited Metabolic Disease 1 - 11. 10.1007/s10545-009-1180-2.

Sharma, G; Muller, D; O'Riordan, S; Hindmarsh, P; Dattani, M; Mills, K; (2009) A novel method for the direct measurement of urinary conjugated metabolites of alpha-tocopherol and its use in diabetes. FREE RADICAL RESEARCH , 43 56 - 56.

Shelley, P; Martin-Gronert, MS; Rowlerson, A; Poston, L; Heales, SJR; Hargreaves, IP; ... Fernandez-Twinn, DS; + view all (2009) Altered skeletal muscle insulin signaling and mitochondrial complex II-III linked activity in adult offspring of obese mice. AM J PHYSIOL-REG I , 297 (3) R675 - R681. 10.1152/ajpregu.00146.2009.

Shimomura, K; Zadek, B; Lethby, M; Zubceuic, L; Girard, CAJ; Mannikko, R; ... Clayton, P; + view all (2009) Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism. EMBO Molecular Medicine , 1 (3) 166 - 177. 10.1002/emmm.200900018. Gold open access

Steinberg, SJ; Snowden, A; Braverman, NE; Chen, L; Watkins, PA; Clayton, PT; ... Moser, HW; + view all (2009) A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts. J INHERIT METAB DIS , 32 (1) 109 - 119. 10.1007/s10545-008-0969-8.

Sweeney, M; Woodward, CE; Mudanohwo, EE; Rahman, S; Hanna, MG; Davis, MB; (2009) Urine epithelial cells as an alternative to muscle biopsies in the detection of mitochondrial DNA mutations. In: Journal of Medical Genetics. (pp. S69 - S69).

Sweeney, M; Woodward, CE; Mudanohwo, EE; Rahman, S; Hanna, MG; Davis, MB; (2009) Urine epithelial cells as an alternative to muscle biopsies in the detection of mitochondrial DNA mutations. In: JOURNAL OF MEDICAL GENETICS. (pp. S69 - S69). B M J PUBLISHING GROUP

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Thomas, AC; Tattersall, D; O'Toole, EA; Kelsell, D; (2009) Premature terminal differentiation and a reduction in specific proteases due to loss of ABCA12 in Harlequin Ichthyotic skin. American Journal of Pathology

Tollerfield, SC; Bryan, SM; Hindmarsh, PC; (2009) Structuring a working model for researchers - lets get STARTED. HORM RES , 72 496 - 497.

Tomlinson, SE; Hanna, MG; Holton, JL; Rahman, S; (2009) A novel POLG1 mutation resulting in severe cachexia and muscle wasting. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 16 - 16). BLACKWELL PUBLISHING

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Webb, EA; Allgrove, J; Kurzawinski, TR; Dattani, MT; (2009) Did cinacalcet help in the management of neonatal severe primary hyperparathyroidism secondary to a novel homozygous inactivating mutation of the calcium-sensing receptor? Bone , 45 S91 - S92.

Webb, EA; Hesseling, AC; Schaaf, HS; Gie, RP; Lombard, CJ; Spitaels, A; ... Beyers, N; + view all (2009) High prevalence of Mycobacterium tuberculosis infection and disease in children and adolescents with type 1 diabetes mellitus. International Journal of Tuberculosis and Lung Disease , 13 (7) 868 - 874.

Webb, EA; Mehta, A; Dattani, MT; (2009) Can the phenotype of septo-optic dysplasia at presentation be used to predict the severity of associated hormonal abnormalities, developmental delay, obesity, sleep and behavioural disorders? Hormone Research , 72 380 - 380.

This list was generated on Sun Apr 13 05:54:51 2014 BST.