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Number of items: 68.

A

Alatzoglou, KS; Dattani, MT; (2012) Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD). Indian J Pediatr , 79 (1) 99 - 106. 10.1007/s12098-011-0614-7.

Andoniadou, CL; Gaston-Massuet, C; Reddy, R; Schneider, RP; Blasco, MA; Le Tissier, P; ... Martinez-Barbera, JP; + view all (2012) Identification of novel pathways involved in the pathogenesis of human adamantinomatous craniopharyngioma. Acta Neuropathologica 1 - 13.

Arboleda, VA; Lee, H; Parnaik, R; Fleming, A; Banerjee, A; Ferraz-de-Souza, B; ... Vilain, E; + view all (2012) Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. Nat Genet , 44 (7) 788 - 792. 10.1038/ng.2275.

Aylett, S-B; Neergheen, V; Eaton, S; Land, JM; Rahman, S; Heales, SJ; (2012) FACTORS AFFECTING 5-METHYLTETRAHYDROFOLATE (5MTHF) STABILITY: IMPLICATIONS FOR CEREBRAL 5MTHF DEFICIENCY. In: JOURNAL OF INHERITED METABOLIC DISEASE. (pp. S141 - S141).

Aylett, S-B; Varadkar, S; Fassone, E; Pope, S; Neergheen, V; Hargreaves, IP; ... Rahman, S; + view all (2012) CEREBRAL FOLATE DEFICIENCY ASSOCIATED WITH A NOVEL HOMOZYGOUS NONSENSE MUTATION IN FOLR1. In: JOURNAL OF INHERITED METABOLIC DISEASE. (pp. S138 - S138).

B

Bawazir, WM; Gevers, EF; Flatt, JF; Ang, AL; Jacobs, B; Oren, C; ... Stewart, GW; + view all (2012) An infant with pseudohyperkalemia, hemolysis, and seizures: cation-leaky GLUT1-deficiency syndrome due to a SLC2A1 mutation. J Clin Endocrinol Metab , 97 (6) E987 - E993. 10.1210/jc.2012-1399.

Brook, CGD; Dattani, MT; (2012) Handbook of Clinical Pediatric Endocrinology. Wiley

C

Carta, E; Pauws, E; Thomas, AC; Mengrelis, K; Moore, GE; Lees, M; Stanier, P; (2012) Investigation of SUMO pathway genes in the etiology of nonsyndromic cleft lip with or without cleft palate. Birth Defects Res A Clin Mol Teratol , 94 (6) 459 - 463. 10.1002/bdra.23008.

Charmandari, E; Achermann, JC; Carel, JC; Soder, O; Chrousos, GP; (2012) Stress response and child health. Sci Signal , 5 (248) mr1 - ?. 10.1126/scisignal.2003595.

Chong, CP; Mills, PB; McClean, P; Gissen, P; Bruce, C; Stahlschmidt, J; ... Clayton, PT; + view all (2012) Bile acid-CoA ligase deficiency--a new inborn error of bile acid metabolism. J Inherit Metab Dis , 35 (3) 521 - 530. 10.1007/s10545-011-9416-3.

Christesen, HT; Brusgaard, K; Hussain, K; (2012) Recurrent spontaneous hypoglycaemia causes loss of neurogenic and neuroglycopaenic signs in infants with congenital hyperinsulinism. Clinical Endocrinology , 76 (4) 548 - 554. 10.1111/j.1365-2265.2011.04250.x.

D

Duberley, KEC; Hargreaves, IP; Chaiwatanasirikul, K; Heales, SJ; Rahman, S; Mills, K; Eaton, S; (2012) DEVELOPMENT OF A MASS SPECTROMETRY METHOD (MS/MS) FOR QUANTIFICATION OF COENZYME Q10 IN CSF. In: JOURNAL OF INHERITED METABOLIC DISEASE. (pp. S124 - S124).

Duncan, AJ; Knight, JA; Costello, H; Conway, GS; Rahman, S; (2012) POLG mutations and age at menopause. Hum Reprod , 27 (7) 2243 - 2244. 10.1093/humrep/des130.

F

Fassone, E; Rahman, S; (2012) Complex I deficiency: clinical features, biochemistry and molecular genetics (vol 49, pg 578, 2012). JOURNAL OF MEDICAL GENETICS , 49 (10) 668 - 668. 10.1136/jmedgenet-2012-101159corr1.

Flanagan, S; Damhuis, A; Banerjee, I; Rokicki, D; Jefferies, C; Kapoor, R; ... Ellard, S; + view all (2012) Partial ABCC8 gene deletion mutations causing diazoxide-unresponsive hyperinsulinaemic hypoglycaemia. Pediatr Diabetes , 13 (3) 285 - 289. 10.1111/j.1399-5448.2011.00821.x.

Flanagan, SE; Mackay, DJG; Greeley, SAW; McDonald, TJ; Mericq, V; Hassing, J; ... Hattersley, AT; + view all (2012) Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects: expanding the clinical phenotype. Diabetologia 1 - 4.

Foley, AR; Broomfield, AA; Pandraud, A; Johnson, JO; Singleton, AB; Hargreaves, IP; ... Muntoni, F; + view all (2012) High-dose riboflavin therapy in Brown-Vialetto-Van Laere syndrome: clinical and biochemical improvement. In: NEUROMUSCULAR DISORDERS. (pp. S4 - S4).

G

García-Obregón, S; Alfonso-Sánchez, MA; Pérez-Miranda, AM; Gómez-Pérez, L; de Parcorbo, MM; Peña, JA; (2012) Ancestry markers from the human chromosome 6: Alu repeats from the MHC in autochthonous Basques. Hum Immunol , 73 (7) 720 - 725. 10.1016/j.humimm.2012.04.010.

Glamuzina, E; Brown, R; Hogarth, K; Saunders, D; Russell-Eggitt, I; Pitt, M; ... Grunewald, S; + view all (2012) Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2. J Inherit Metab Dis , 35 (3) 459 - 467. 10.1007/s10545-011-9413-6.

Gray, Z; McKay, K; Lloyd, C; Hartley, J; MacDonald, F; Hendriksz, CJ; ... Kelly, DA; + view all (2012) A PROJECT TO IDENTIFY GENES THAT CAUSE RECESSIVE INHERITED LIVER DISEASES. In: JOURNAL OF INHERITED METABOLIC DISEASE. (pp. S105 - S105).

H

Habeb, AM; Al-Magamsi, MS; Eid, IM; Ali, MI; Hattersley, AT; Hussain, K; Ellard, S; (2012) Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia. Pediatr Diabetes , 13 (6) 499 - 505. 10.1111/j.1399-5448.2011.00828.x.

Hall, A; Pembrey, M; Lutman, M; Steer, C; Bitner-Glindzicz, M; (2012) Prevalence and audiological features in carriers of GJB2 mutations, c.35delG and c.101T>C (p.M34T), in a UK population study. BMJ Open , 2 (4) 10.1136/bmjopen-2012-001238.

Hindmarsh, PC; (2012) Endocrine Society Congenital Adrenal Hyperplasia Guidelines: great content but how to deliver? Clin Endocrinol (Oxf) , 76 (4) 465 - 466. 10.1111/j.1365-2265.2011.04289.x.

Hindmarsh, PC; (2012) Growth hormone treatment 50 years down the line - are we getting value? Clin Endocrinol (Oxf) , 77 (1) 11 - 12. 10.1111/j.1365-2265.2012.04380.x.

I

Illingworth, MA; Boyd, S; Varadkar, S; Rahman, S; (2012) EPILEPTIC PHENOTYPES IN CHILDREN WITH PROVEN MITOCHONDRIAL DISEASE AND EPILEPSY. In: JOURNAL OF INHERITED METABOLIC DISEASE. (pp. S120 - S120).

Ishida, M; Monk, D; Duncan, AJ; Abu-Amero, S; Chong, J; Ring, SM; ... Moore, GE; + view all (2012) Maternal inheritance of a promoter variant in the imprinted PHLDA2 gene significantly increases birth weight. The American Journal of Human Genetics , 90 (4) 715 - 719. 10.1016/j.ajhg.2012.02.021. Green and gold open access
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Ishida, M.; (2012) The role of imprinted genes in human fetal growth. Doctoral thesis, UCL (University College London).

J

Jones, ML; Murden, SL; Bem, D; Mundell, SJ; Gissen, P; Daly, ME; ... UK GAPP study group,; + view all (2012) Rapid genetic diagnosis of heritable platelet function disorders with next-generation sequencing: proof-of-principle with Hermansky-Pudlak syndrome. J Thromb Haemost , 10 (2) 306 - 309. 10.1111/j.1538-7836.2011.04569.x.

K

Kapoor, RR; Flanagan, SE; Ellard, S; Hussain, K; (2012) Congenital hyperinsulinism: marked clinical heterogeneity in siblings with identical mutations in the ABCC8 gene. Clin Endocrinol (Oxf) , 76 (2) 312 - 313. 10.1111/j.1365-2265.2011.04203.x.

Kapoor, RR; James, CT; Hussain, K; (2012) HNF4A and hyperinsulinemic hypoglycemia. Frontiers in Diabetes , 21 182 - 190. 10.1159/000334532.

Kinsler, V; Hindmarsh, P; Dattani, M; Cole, T; Khan, S; White, A; ... Moore, G; + view all (2012) Abnormalities of growth and endocrinology in children with congenital melanocytic naevi. In: BRITISH JOURNAL OF DERMATOLOGY. (pp. 131 - 131).

Kinsler, V; Shaw, AC; Merks, JH; Hennekam, RC; (2012) The face in congenital melanocytic nevus syndrome. Am J Med Genet A , 158A (5) 1014 - 1019. 10.1002/ajmg.a.34217.

Kinsler, VA; (2012) Studies of congenital melanocytic naevi. Doctoral thesis, UCL (University College London).

Kinsler, VA; Abu-Amero, S; Budd, P; Jackson, IJ; Ring, SM; Northstone, K; ... Healy, E; + view all (2012) Germline melanocortin-1-receptor genotype is associated with severity of cutaneous phenotype in congenital melanocytic nevi: a role for MC1R in human fetal development. J Invest Dermatol , 132 (8) 2026 - 2032. 10.1038/jid.2012.95.

Kinsler, VA; Thomas, AC; Ishida, M; Bulstrode, NW; Loughlin, S; Hing, S; ... Moore, GE; + view all (2012) Multiple congenital melanocytic naevi and neurocutaneous melanosis are caused by mosaicism for NRAS codon 61 mutations, leading to an increased risk of melanoma in affected tissues. In: GENETICS RESEARCH. (pp. 358 - 359).

M

Manwaring, V; Heywood, W; Heales, S; Mills, K; (2012) IDENTIFICATION OF THE POTENTIAL URINARY BIOMARKER PROACTIVATOR POLYPEPTIDE IN FABRY DISEASE. JOURNAL OF INHERITED METABOLIC DISEASE , 35 S93 - S93.

Mazharian, A; Wang, Y-J; Mori, J; Bem, D; Finney, B; Heising, S; ... Campbell, RD; + view all (2012) Mice lacking the ITIM-containing receptor G6b-B exhibit macrothrombocytopenia and aberrant platelet function. Science Signaling , 5 (248) 10.1126/scisignal.2002936.

Mckay, KE; Bruce, CK; Hunt, J; Hartley, JL; Hendriksz, CJ; Kelly, DA; ... Gissen, P; + view all (2012) MOLECULAR GENETIC TESTING FOR NIEMANN-PICK DISEASE TYPE C IN BIRMINGHAM. In: JOURNAL OF INHERITED METABOLIC DISEASE. (pp. S106 - S106).

Michot, C; Hubert, L; Romero, NB; Gouda, A; Mamoune, A; Mathew, S; ... de Lonlay, P; + view all (2012) Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia. J Inherit Metab Dis , 35 (6) 1119 - 1128. 10.1007/s10545-012-9461-6.

Mills, PB; Footitt, EJ; Ceyhan, S; Waters, PJ; Jakobs, C; Clayton, PT; Struys, EA; (2012) Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency. J Inherit Metab Dis , 35 (6) 1031 - 1036. 10.1007/s10545-012-9466-1.

N

Nesbitt, V; Pitceathly, R; Cockell, S; Poulton, J; Rahman, S; Hanna, M; ... McFarland, R; + view all (2012) The medical research council neuromuscular centre for translational research mitochondrial disease patient cohort study UK: from conceptualisation to utilisation. In: NEUROMUSCULAR DISORDERS. (pp. S24 - S24).

Nessa, A; Kumaran, A; Kirk, R; Dalton, A; Ismail, D; Hussain, K; (2012) Mutational analysis of the GYS2 gene in patients diagnosed with ketotic hypoglycaemia. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , 25 (9-10) 963 - 967. 10.1515/jpem-2012-0165.

Ng, J; Carr, LJ; Devile, C; Hemingway, C; Lewis, V; Mordekar, SR; ... Kurian, MA; + view all (2012) CLINICAL FEATURES OF PRIMARY DYSTONIAS AND OTHER MOVEMENT DISORDERS ASSOCIATED WITH SELECTIVE SEROTONIN DEFICIENCY (SSD). In: JOURNAL OF INHERITED METABOLIC DISEASE. (pp. S19 - S19).

Ng, J; Tuschl, K; Carr, LJ; Cleary, M; Devlin, A; Manzur, A; ... Kurian, MA; + view all (2012) CLINICAL AND BIOCHEMICAL DELINEATION OF TH GENE-NEGATIVE SEVERE INFANTILE DOPAMINE DEFICIENCY. In: JOURNAL OF INHERITED METABOLIC DISEASE. (pp. S139 - S139).

P

Padidela, R; Bennett, K; Nessa, A; Wells, J; Aufieri, R; James, C; ... Hussain, K; + view all (2012) Severe resistance to weight gain, lack of stored triglycerides in adipose tissue, hypoglycaemia, and increased energy expenditure: a novel disorder of energy homeostasis. Horm Res Paediatr , 77 (4) 261 - 268. 10.1159/000337248.

Padidela, R; Bryan, SM; Abu-Amero, S; Hudson-Davies, RE; Achermann, JC; Moore, GE; Hindmarsh, PC; (2012) The growth hormone receptor gene deleted for exon three (GHRd3) polymorphism is associated with birth and placental weight. Clinical Endocrinology , 76 (2) 236 - 240. 10.1111/j.1365-2265.2011.04207.x. Green and gold open access
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Pandraud, A; Clayton, P; Foley, AR; Muntoni, F; Johnson, JO; Singleton, AB; ... Houlden, H; + view all (2012) INVESTIGATION OF RIBOFLAVIN TRANSPORTER MUTATIONS IN BROWN-VIALETTO-VAN LAERE SYNDROME, A POTENTIALLY TREATABLE METABOLIC DISEASE. JOURNAL OF INHERITED METABOLIC DISEASE , 35 S18 - S18.

Pandraud, A; Johnson, JO; Singleton, AB; Clayton, P; Land, J; Hargreaves, I; ... Houlden, H; + view all (2012) Genetic and functional investigation of Brown-Vialetto-Van Laere syndrome and related neuropathies. In: NEUROMUSCULAR DISORDERS. (pp. S19 - S20).

Peters, CJ; Dattani, MT; (2012) How to use insulin-like growth factor 1 (IGF1). Arch Dis Child Educ Pract Ed , 97 (3) 114 - 118. 10.1136/archdischild-2011-300265.

Pitceathly, RD; Rahman, S; Hanna, MG; (2012) Single deletions in mitochondrial DNA--molecular mechanisms and disease phenotypes in clinical practice. Neuromuscular Disorders , 22 (7) 577 - 586. 10.1016/j.nmd.2012.03.009. Green and gold open access
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Pitceathly, RDS; Tomlinson, SE; Hargreaves, I; Bhardwaj, N; Holton, JL; Evans, J; ... Rahman, S; + view all (2012) NOVEL DOMINANT POLG MUTATIONS CAUSE DISTAL MYOPATHY. In: JOURNAL OF INHERITED METABOLIC DISEASE. (pp. S119 - S119).

R

Rafeullah, N; Cackett, N; Hussain, K; (2012) Fasting hypoglycaemia and postprandial hyperglycaemia as a prodrome of type 1 diabetes mellitus. Horm Res Paediatr , 78 (5-6) 332 - 335. 10.1159/000337254.

Ronchi, D; Sciacco, M; Bordoni, A; Raimondi, M; Ripolone, M; Fassone, E; ... Comi, GP; + view all (2012) The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment. Eur J Hum Genet , 20 (3) 357 - 360. 10.1038/ejhg.2011.238.

S

Salmi, H; Leonard, JV; Rahman, S; Lapatto, R; (2012) Plasma thiol status is altered in children with mitochondrial diseases. Scand J Clin Lab Invest , 72 (2) 152 - 157. 10.3109/00365513.2011.646299.

Scott, RH; Moore, GE; (2012) Epigenetic Mechanisms of Human Imprinting Disorders. Epigenetics in Human Disease 253 - 271. 10.1016/B978-0-12-388415-2.00013-5.

Sechi, A; Ellerton, C; Peters, C; Gissen, P; Mundy, H; Lachmann, RH; Murphy, E; (2012) INSULIN RESISTANCE AND DIABETES IN GLYCOGEN STORAGE DISEASE: PRESENTATION OF 5 CLINICAL CASES. JOURNAL OF INHERITED METABOLIC DISEASE , 35 S77 - S77.

Senniappan, S; Hine, P; Tang, W; Campbell, J; Bone, M; Sankar, V; ... Network, NWEPD; + view all (2012) The effect of socioeconomic deprivation on efficacy of continuous subcutaneous insulin infusion: a retrospective paediatric case-controlled survey. EUROPEAN JOURNAL OF PEDIATRICS , 171 (1) 59 - 65. 10.1007/s00431-011-1482-x.

Shahni, R; Gnudi, L; King, A; Jones, P; Malik, AN; (2012) Elevated levels of renal and circulating Nop-7-associated 2 (NSA2) in rat and mouse models of diabetes, in mesangial cells in vitro and in patients with diabetic nephropathy. Diabetologia , 55 825 - 834.

Sharma, G.; (2012) Methods for the measurement of urinary biomarkers of oxidative stressapplication to type 1 diabetes mellitus. Doctoral thesis, UCL (University College London). Green open access
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Shaw-Smith, C; Flanagan, SE; Patch, A-M; Grulich-Henn, J; Habeb, AM; Hussain, K; ... Ellard, S; + view all (2012) Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia. PEDIATRIC DIABETES , 13 (4) 307 - 314. 10.1111/j.1399-5448.2012.00855.x.

Smith, H; Banushi, B; Bruce, CK; Cangul, H; Gogolina, E; Straatman-Iwanowska, A; ... Watson, SP; + view all (2012) Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome. Human Mutation , 33 (12) 1656 - 1664. 10.1002/humu.22155. Green and gold open access
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Stamelou, M; Tuschl, K; Mills, P; Chong, K; Burroughs, A; Clayton, P; Bhatia, K; (2012) Early-onset dystonia with brain manganese accumulation due to SLC30A10 mutations: a new treatable disorder. In: EUROPEAN JOURNAL OF NEUROLOGY. (pp. 297 - 297).

Sun, Y; Ruivenkamp, CAL; Laros, JFJ; Kriek, M; Kant, SG; Bosch, CAJ; ... Dattani, MT; + view all (2012) Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. Nature Genetics , 44 (12) 1375 - 1381. 10.1038/ng.2453.

T

Thomas, AC; Frost, JM; Ishida, M; Vargha-Khadem, F; Moore, GE; Stanier, P; (2012) The speech gene FOXP2 is not imprinted. Journal of Medical Genetics , 49 (11) 669 - 670. 10.1136/jmedgenet-2012-101242.

Thomas, AC; Frost, JM; Ishida, M; Vargha-Khadem, F; Moore, GE; Stanier, P; (2012) The speech gene FOXP2 is not imprinted. J Med Genet , 49 (11) 669 - 670. 10.1136/jmedgenet-2012-101242.

Turton, JP; Strom, M; Langham, S; Dattani, MT; Le Tissier, P; (2012) Two novel mutations in the POU1F1 gene generate null alleles through different mechanisms leading to combined pituitary hormone deficiency. Clin Endocrinol (Oxf) , 76 (3) 387 - 393. 10.1111/j.1365-2265.2011.04236.x.

W

Webb, TR; Matarin, M; Gardner, JC; Kelberman, D; Hassan, H; Ang, W; ... Hardcastle, AJ; + view all (2012) X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development. The American Journal of Human Genetics , 90 (2) 247 - 259. 10.1016/j.ajhg.2011.12.019. Green and gold open access
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Wedatilake, Y; Brown, RM; McFarland, R; Chakrapani, A; Morris, AA; Champion, MP; ... Rahman, S; + view all (2012) SURF1 DEFICIENCY: NATURAL HISTORY STUDY OF A UK COHORT. In: JOURNAL OF INHERITED METABOLIC DISEASE. (pp. S116 - S116).

This list was generated on Sun Jul 27 09:35:17 2014 BST.