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Number of items: 167.

A

Abu-Amero, S and Moore, G and Regan, L and Rai, R and White, S and Miller, A and Lo, W and Johnson, M and Nicolaides, K and Williamson, C and Peebles, D and Whittaker, J (2009) The Baby Bio Bank of London. JOURNAL OF MEDICAL GENETICS , 46 S113 - S113.

Alatzoglou, KS and Arriazu, MC and Crolla, JA and Roubicek, ME and 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 and Arriazu, MC and Crolla, JA and Roubicek, ME and 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 and Dattani, MT (2009) Genetic forms of hypopituitarism and their manifestation in the neonatal period. Early Human Development , 85 (11) 705 - 712.

Alatzoglou, KS and 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 and Hindmarsh, PC and Brain, C and Torpiano, J and 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 and Hindmarsh, PC and Brain, C and Torpiano, J and 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 and Kelberman, D and Buchanan, C and 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 and Kelberman, D and Buchanan, C and 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 and Kelberman, D and Cowell, CT and Arnhold, IJP and Melo, ME and Mundlos, S and Schnabel, D and Grueters, A and Dattani, MT (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 and Kelberman, D and Cowell, CT and Arnhold, IJP and Melo, ME and Mundlos, S and Schnabel, D and Grueters, A and Dattani, MT (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 and Kelberman, D and 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 and Mehta, A and Webb, EA and Dattani, MT (2009) Comparison of the spectrum of endocrinopathies in children with severe midline defects. Hormone Research , 72 85 - 85.

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

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

Alatzoglou, KS and Turton, JP and Kelberman, D and Clayton, PE and Mehta, A and Buchanan, C and Aylwin, S and Crowne, EC and Christesen, HT and Hertel, NT and Trainer, PJ and Savage, MO and Raza, J and Banerjee, K and Sinha, SK and Ten, S and Mushtaq, T and Brauner, R and Cheetham, TD and Hindmarsh, PC and Mullis, PE and Dattani, MT (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 and Land, JM and 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 and Widmer, B and Dalton, RN and 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 and Millington, DS and Barr, C and Young, SP and Mills, K and 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 and Romero, C and Tziaferi, V and McCabe, M and Zhang, CK and Sidis, Y and Plummer, L and Elting, M and Martin, C and Zou, QY and Mohammadi, M and Dattani, M and Radovick, S and Pitteloud, N (2009) New loci for congenital hypopituitarism: overlap with Kallmann syndrome. HORM RES , 72 30 - 31.

B

Bajaj, Y and Sirimanna, T and Albert, DM and Qadir, P and Jenkins, L and Cortina-Borja, M and 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.

Barenco, M and Brewer, D and Papouli, E and Tomescu, D and Callard, R and Stark, J and Hubank, M (2009) Dissection of a complex transcriptional response using genome-wide transcriptional modelling. MOL SYST BIOL , 5 , Article 327. 10.1038/msb.2009.84.
An open access publication

Barenco, M and Papouli, E and Shah, S and Brewer, D and Miller, CJ and Hubank, M (2009) rHVDM: an R package to predict the activity and targets of a transcription factor. BIOINFORMATICS , 25 (3) 419 - 420. 10.1093/bioinformatics/btn639.

Beesley, CE and Young, EP and Finnegan, N and Jackson, M and Mills, K and Vellodi, A and Cleary, M and Winchester, BG (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 and Pembrey, M and Duncan, A and Heron, J and Ring, SM and Hall, A and Rahman, S (2009) Prevalence of Mitochondrial 1555A > G Mutation in European Children. NEW ENGL J MED , 360 (6) 640 - 642.

Bryan, SM and Honour, JW and 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 and Brusgaard, K and Thisted, E and Turton, J and Hertel, T and Johansen, KB and Hansen, D and Dattani, MT (2009) Ten family members with a growth hormone gene mutation and treatment with growth hormone since 1976. Hormone Research , 72 107 - 107.

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

Christie, D and Strange, V and Allen, E and Oliver, S and Wong, ICK and Smith, F and Cairns, J and Thompson, R and Hindmarsh, P and O'Neill, S and Bull, C and Viner, R and Elbourne, D (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.
An open access publication. A version is also available from UCL Discovery.
 file

Clayton, PT and 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.

Cliffe, ST and Kramer, JM and Hussain, K and Robben, JH and de Jong, EK and de Brouwer, AP and Nibbeling, E and Kamsteeg, EJ and Wong, M and Prendiville, J and James, C and Padidela, R and Becknell, C and van Bokhoven, H and Deen, PMT and Hennekam, RCM and Lindeman, R and Schenck, A and Roscioli, T and Buckley, MF (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 and Brook, CGD and Conway, GS and Hindmarsh, PC and 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 and Straatman-Iwanowska, A and Seo, JK and Ko, JS and Song, KS and Gizewska, M and Gruszfeld, D and Gliwicz, D and Tuysuz, B and Erdemir, G and Sougrat, R and Wakabayashi, Y and Hinds, R and Barnicoat, A and Mandel, H and Chitayat, D and Fischler, B and Garcia-Cazorla, A and Knisely, AS and Kelly, DA and Maher, ER and Gissen, P (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 and Ritchie, M and Abu-Amero, S and Sudbery, IM and Stanier, P and Forrest, MS and Deloukas, P and Tavare, S and Moore, GE and Dunham, I (2009) Assessment of candidate imprinted genes in the human term placenta. In: GENETICS RESEARCH. (pp. 136 - 136). CAMBRIDGE UNIV PRESS

Daelemans, C and Ritchie, ME and Abu-Amero, S and Sudbery, IM and Stanier, P and Forrest, MS and Deloukas, P and Tavare, S and Moore, GE and Dunham, I (2009) Assessment of candidate imprinted genes in the human term placenta. In: JOURNAL OF MEDICAL GENETICS. (pp. S88 - S88). B M J PUBLISHING GROUP

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

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

Davison, E and MacPherson, L and Davies, N and Chakrapani, A and Sun, Y and Hendriksz, C and McKiernan, P and Peet, AC and Gissen, P (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 and Purmann, C and Walters, RG and Ellis, RJ and Holder, SE and Van Haelst, MM and Brady, AF and Fairbrother, UL and Dattani, M and Keogh, JM and Henning, E and Yeo, GSH and O'Rahilly, S and Froguel, P and Farooqi, IS and Blakemore, AIF (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 and Purmann, C and Walters, RG and Ellis, RJ and Holder, SE and van Haelst, MM and Brady, AF and Fairbrother, UL and Dattani, M and Keogh, JM and Henning, E and Yeo, GSH and O'Rahilly, S and Froguel, P and Farooqi, IS and Blakemore, AIF (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 and Ronchi, D and Lodi, T and Fassone, E and Tigano, M and Lamperti, C and Corti, S and Bordoni, A and Fortunato, F and Nizzardo, M and Napoli, L and Donadoni, C and Salani, S and Saladino, F and Moggio, M and Bresolin, N and Ferrero, I and Comi, GP (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 and van Mil, SWC and Chambers, J and Strautnieks, S and Thompson, RJ and Lammert, F and Kubitz, R and Keitel, V and Glantz, A and Mattsson, LA and Marschall, HU and Molokhia, M and Moore, GE and Linton, KJ and Williamson, C (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 and Grinham, J and Whittaker, J and Lynch, SA and Thompson, D and Moore, GE and Copp, AJ and Greene, NDE and Stanier, P (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 and Bitner-Glindzicz, M and Meunier, B and Costello, H and Hargreaves, IP and Lopez, LC and Hirano, M and Quinzii, CM and Sadowski, MI and Hardy, J and Singleton, A and Clayton, PT and Rahman, S (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.
An open access publication

Duncan, AJ and Hargreaves, IP and Damian, MS and Land, JM and 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 and Hargreaves, IP and Damian, MS and Land, JM and 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 and Mooyer, PAW and Koster, J and Dekker, CJM and Eyskens, FJM and Dionisi-Vici, C and Clayton, PT and Barth, PG and Wanders, RJA and Waterham, HR (2009) Genotype-Phenotype Correlation in PEX5-Deficient Peroxisome Biogenesis Defective Cell Lines. HUM MUTAT , 30 (1) 93 - 98. 10.1002/humu.20833.

Edghill, EL and Hameed, S and Verge, CF and Rubio-Cabezas, O and Argente, J and Sumnik, Z and Dusatkova, P and Cliffe, ST and Hennekam, RC and Buckley, MF and Hussain, K and Ellard, S and Attersley, AT (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 and Lin, L and Achermann, JC (2009) Adrenals. In: Carel, JC and Hochberg, Z, (eds.) Yearbook of pediatric endocrinology 2009. (93 - 110). Karger: Basel.

Ferraz-De-Souza, B and Martin, F and Mallet, D and Hudson-Davies, RE and Cogram, P and Lin, L and Gerrelli, D and Beuschlein, F and Morel, Y and Huebner, A and Achermann, JC (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. J CLIN ENDOCR METAB , 94 (2) 678 - 683. 10.1210/jc.2008-1064.

Foolitt, EJ and Mills, PB and Heales, SJ and Prabhakar, P and 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 and Gorman, G and Stewart, JD and Buddles, M and Smith, C and Evans, J and Seller, A and Poulton, J and Roberts, M and Hanna, MG and Rahman, S and Omer, SE and Klopstock, T and Schoser, B and Kornblum, C and Lecky, B and Chinnery, PF and Turnbull, DM and Horvath, R and Taylor, RW (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 and Vovk, V and Burford, B and Nouretdinov, I and Luo, ZY and Chervonenkis, A and Waterfield, M and Cramer, R and Tempst, P and Villanueva, J and Kabir, M and Camuzeaux, S and Timms, J and Menon, U and Jacobs, I (2009) Serum Proteomic Abnormality Predating Screen Detection of Ovarian Cancer. COMPUT J , 52 (3) 326 - 333. 10.1093/comjnl/bxn021.

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

Gault, EJ and Perry, RJ and Cole, TJ and Paterson, WF and Dunger, DB and Hindmarsh, PC and Betts, P and Donaldson, MDC (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 and Dattani, MT and Waters, MJ and Robinson, IC (2009) Growth hormone (GH) signaling in early life in rodents. Hormone Research , 72 276 - 277.

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

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

Gozzi, T and Tonella, P and Scheidegger, U and Fluck, CE and L'Allemand, D and Dattani, MT and Hindmarsh, PC and Mullis, PE (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 and 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 and Pinteaux-Jones, F and Fry, VAH and Sevastou, IG and Baker, D and Heales, SJ and 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 and Pinteaux-Jones, F and Fry, VAH and Sevastou, IG and Baker, D and Heales, SJ and 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 and Raine, J and 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 and Neubert, AC and Rani, F and Viner, RM and Hindmarsh, PC and 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.
An open access publication

Hudson-Davies, RE and Bryan, S and Lin, L and Palmer, T and Timpson, N and Hindmarsh, PC and 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 and Padidela, R and Kapoor, RR and James, C and Banerjee, K and Harper, J and Wilson, LC and Hennekam, RCM (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 and Kuehnen, P and Kapoor, R and Blankenstein, O and 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 and Kapoor, RR and Ismail, D and Hussain, K (2009) The genetic basis of congenital hyperinsulinism. J MED GENET , 46 (5) 289 - 299. 10.1136/jmg.2008.064337.

Jayakody, SA and Gaston-Massuet, C and Andoniadou, CL and Dattani, M and 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 and Flanagan, S. E and Fulton, P. and Chakrapani, A. and Chadefaux, B. and Ben-Omran, T. and Banerjee, I. and Shield, J. P and Ellard, S. and Hussain, K. (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.
An open access version is available from UCL Discovery
 file

Kapoor, RR and Flanagan, SE and Fulton, P and Chakrapani, A and Chadefaux, B and Banerjee, I and Shield, JP and Ellard, S and Hussain, K (2009) Hyperinsulinism-hyperammonaemia (HI/HA) syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations. Hormone Research , 72 298 - 298.

Kapoor, RR and Flanagan, SE and Fulton, P and Chakrapani, A and Chadefaux, B and Ben-Omran, T and Banerjee, I and Shield, JP and Ellard, S and Hussain, K (2009) Hyperinsulinism-hyperammonaemia syndrome: novel mutations in. Eur J Endocrinol , 161 (5) 731 - 735.

Kapoor, RR and Flanagan, SE and Fulton, P and Chakrapani, A and Chadefaux, B and Ben-Omran, T and Banerjee, I and Shield, JP and Ellard, S and Hussain, K (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.
An open access publication

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

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

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

Kapoor, RR and James, C and Flanagan, SE and Ellard, S and Eaton, S and 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 and James, C and 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 and James, C and Hussain, K (2009) Hyperinsulinism in Developmental Syndromes. ENDOCRINE INVOLVEMENT IN DEVELOPMENTAL SYNDROMES , 14 95 - 113.

Köhler, B. and Lin, L. and Mazen, I. and Cetindag, C. and Biebermann, H. and Akkurt, I. and Rossi, R. and Hiort, O. and Grüters, A. and Achermann, J.C. (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.
An open access version is available from UCL Discovery
 file

Kelberman, D and Dattani, MT (2009) Role of transcription factors in midline central nervous system and pituitary defects. Endocrine Development , 14 67 - 82.

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

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Kinsler, V and 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.

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This list was generated on Wed Jun 19 04:59:27 2013 BST.