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Number of items: 153.

A

Abu-Amero, S; Wakeling, EL; Preece, M; Whittaker, J; Stanier, P; Moore, GE; (2010) Epigenetic signatures of Silver-Russell syndrome. J MED GENET , 47 (3) 150 - 154. 10.1136/jmg.2009.071316.

Achermann, JC; Jameson, JL; (2010) Disorders of sex development. In: Harrison's endocrinology. (144 - 155). McGraw-Hill: New York.

Al-Mahdi, M; Al Mutair, A; Al Balwi, M; Hussain, K; (2010) Successful transfer from insulin to oral sulfonylurea in a 3-year-old girl with a mutation in the KCNJ11 gene. ANN SAUDI MED , 30 (2) 162 - 164. 10.4103/0256-4947.60526. Gold open access

Alatzoglou, KS; Dattani, MT; (2010) Acquired Disorders of the Hypothalamo-Pituitary Axis. Brook's Clinical Pediatric Endocrinology: Sixth Edition 106 - 123. 10.1002/9781444316728.ch5.

Alatzoglou, KS; Dattani, MT; (2010) Genetic causes and treatment of isolated growth hormone deficiency-an update. NAT REV ENDOCRINOL , 6 (10) 562 - 576. 10.1038/nrendo.2010.147.

Alfonso-Sanchez, MA; Perez-Miranda, AM; Garcia-Obregon, S; Pena, JA; (2010) An evolutionary approach to the high frequency of the Delta F508 CFTR mutation in European populations. MED HYPOTHESES , 74 (6) 989 - 992. 10.1016/j.mehy.2009.12.018.

Allen, GFG; Neergheen, V; Oppenheim, M; Fitzgerald, JC; Footitt, E; Hyland, K; ... Heales, SJR; + view all (2010) Pyridoxal 5'-phosphate deficiency causes a loss of aromatic l-amino acid decarboxylase in patients and human neuroblastoma cells, implications for aromatic l-amino acid decarboxylase and vitamin B-6 deficiency states. J NEUROCHEM , 114 (1) 87 - 96. 10.1111/j.1471-4159.2010.06742.x.

Alston, CL; Morak, M; Reid, C; Hargreaves, IP; Pope, SA; Land, JM; ... Taylor, RW; + view all (2010) A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy. Neuromuscul Disord , 20 (2) 131 - 135. 10.1016/j.nmd.2009.10.010.

Anacleto, FE; Resontoc, LP; Bruce, LJ; Clayton, P; Wrong, O; Hegde, S; (2010) Distal renal tubular acidosis in Filipino children, caused by mutations of the anion-exchanger SLC4A1 (AE1, Band 3) gene. Nephron - Physiology , 114 (2) 10.1159/000274484.

Arnoux, J-B; de Lonlay, P; Valayannopoulos, V; Robert, J-J; Verkarre, V; Aigrain, Y; ... Bellanné, C; + view all (2010) Congenital hyperinsulinism. Early Human Development , 86 (5) 287 - 294. 10.1016/j.earlhumdev.2010.05.003.

B

Baratelli, E; Edwards, M; Carecchio, M; Jarman, PR; Heales, SJR; Bhatia, KP; (2010) Juvenile onset dystonia-parkinsonism associated with cerebral folate deficiency. In: MOVEMENT DISORDERS. (pp. S229 - S229). WILEY-LISS

Bashamboo, A; Ferraz-de-Souza, B; Lourenco, D; Lin, L; Sebire, NJ; Montjean, D; ... McElreavey, K; + view all (2010) Human Male Infertility Associated with Mutations in NR5A1 Encoding Steroidogenic Factor 1. AM J HUM GENET , 87 (4) 505 - 512. 10.1016/j.ajhg.2010.09.009.

Bashamboo, A; Ledig, S; Wieacker, P; Achermann, JC; McElreavey, K; (2010) New technologies for the identification of novel genetic markers of disorders of sex development (DSD). Sex Dev , 4 (4-5) 213 - 224. 10.1159/000314917.

Bennett, K; Callard, R; Heywood, W; Harper, J; Jayakumar, A; Clayman, GL; ... Mills, K; + view all (2010) New Role for LEKTI in Skin Barrier Formation: Label-Free Quantitative Proteomic Identification of Caspase 14 as a Novel Target for the Protease Inhibitor LEKTI. J PROTEOME RES , 9 (8) 4289 - 4294. 10.1021/pr1003467.

Bennett, K; James, C; Hussain, K; (2010) Pancreatic beta-cell K-ATP channels: Hypoglycaemia and hyperglycaemia. REV ENDOCR METAB DIS , 11 (3) 157 - 163. 10.1007/s11154-010-9144-2.

Bitner-Glindzicz, M; Osei-Lah, V; Colvin, I; Sirimanna, T; Lucas, D; Mac Ardle, B; ... Rahman, S; + view all (2010) Aminoglycoside-induced deafness during treatment of acute leukaemia. B M J PUBLISHING GROUP

Bockenhauer, D; van't Hoff, W; Dattani, M; Lehnhardt, A; Subtirelu, M; Hildebrandt, F; Bichet, DG; (2010) Secondary Nephrogenic Diabetes Insipidus as a Complication of Inherited Renal Diseases. NEPHRON PHYSIOL , 116 (4) P23 - P29. 10.1159/000320117.

Bolaños, JP; Heales, SJ; (2010) Persistent mitochondrial damage by nitric oxide and its derivatives: neuropathological implications. Front Neuroenergetics , 2 1 - ?. 10.3389/neuro.14.001.2010.

Bostanci, N; Heywood, W; Mills, K; Parkar, M; Nibali, L; Donos, N; (2010) Application of Label-Free Absolute Quantitative Proteomics in Human Gingival Crevicular Fluid by LC/MSE (Gingival Exudatome). J PROTEOME RES , 9 (5) 2191 - 2199. 10.1021/pr900941z.

Brain, CE; Creighton, SM; Mushtaq, I; Carmichael, PA; Barnicoat, A; Honour, JW; ... Achermann, JC; + view all (2010) Holistic management of DSD. Best Practice and Research Clinical Endocrinology and Metabolism , 24 (2) 335 - 354. 10.1016/j.beem.2010.01.006. Gold open access

Brown, RM; Glamuzina, E; Grunewald, S; Chong, WK; Rahman, S; (2010) MITOCHONDRIAL ARGINYL-tRNA SYNTHETASE DEFICIENCY: ACUTE NEONATAL PRESENTATION WITH LACTIC ACIDOSIS. In: JOURNAL OF INHERITED METABOLIC DISEASE. (pp. S84 - S84).

Bruce, C; Hartley, J; McKay, K; Brown, R; Baumann, U; Clayton, P; ... Gissen, P; + view all (2010) The use of BRUM1 resequencing microarray to identify mutations in patients with cholestatic disorders. In: JOURNAL OF MEDICAL GENETICS. (pp. S58 - S58). B M J PUBLISHING GROUP

Bruce, CK; Smith, M; Rahman, F; Liu, ZF; McMullan, DJ; Ball, S; ... Gissen, P; + view all (2010) Design and Validation of a Metabolic Disorder Resequencing Microarray (BRUM1). HUM MUTAT , 31 (7) 858 - 865. 10.1002/humu.21261.

C

Chan, LF; Hughes, CR; Allgrove, JA; Martin, L; Afshar, F; Hindmarsh, PC; ... Storr, HL; + view all (2010) Use of Intravenous Etomidate in a Child To Control Acute Psychosis Induced by the Hypercortisolemia Secondary to Severe Cushing's Disease. In: ENDOCRINE REVIEWS. (pp. ? - ?). ENDOCRINE SOC

Cherubini, V; Bagalini, LS; Ianilli, A; Marigliano, M; Biagioni, M; Carnielli, V; ... Gabrielli, O; + view all (2010) Rapid genetic analysis, imaging withF-DOPA-PET/CT scan and laparoscopic surgery in congenital hyperinsulinism. Journal of Pediatric Endocrinology and Metabolism , 23 (1-2) 171 - 177.

Chong, CPK; Mills, PB; McClean, P; Clayton, PT; (2010) A NEW INBORN ERROR OF BILE ACID SYNTHESIS BILE ACID-CoA LIGASE DEFICIENCY. J INHERIT METAB DIS , 33 S122 - S122.

Clayton, P; Fischer, B; Mann, A; Mansour, S; Rossier, E; Veen, M; ... Hoffmann, K; + view all (2010) Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein. Nucleus , 1 (4) 354 - 366. 10.4161/nucl.1.4.12435.

Cooley, SM; Donnelly, JC; Collins, C; Geary, MP; Rodeck, CH; Hindmarsh, PC; (2010) The relationship between maternal insulin-like growth factors 1 and 2 (IGF-1, IGF-2) and IGFBP-3 to gestational age and preterm delivery. J PERINAT MED , 38 (3) 255 - 259. 10.1515/JPM.2010.019.

Cooley, SM; Donnelly, JC; Geary, MP; Rodeck, CH; Hindmarsh, PC; (2010) Maternal insulin-like growth factors 1 and 2 (IGF-1, IGF-2) and IGF BP-3 and the hypertensive disorders of pregnancy. J MATERN-FETAL NEO M , 23 (7) 658 - 661. 10.3109/14767050903301033.

Crugnola, V; Lamperti, C; Lucchini, V; Ronchi, D; Peverelli, L; Prelle, A; ... Moggio, M; + view all (2010) Mitochondrial respiratory chain dysfunction in muscle from patients with amyotrophic lateral sclerosis. Arch Neurol , 67 (7) 849 - 854. 10.1001/archneurol.2010.128.

Cullinane, AR; Straatman-Iwanowska, A; Zaucker, A; Wakabayashi, Y; Bruce, CK; Luo, GM; ... Gissen, P; + view all (2010) Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization. NAT GENET , 42 (4) 303 - U55. 10.1038/ng.538.

D

Daelemans, C; Ritchie, ME; Smits, G; Abu-Amero, S; Sudbery, IM; Forrest, MS; ... Dunham, I; + view all (2010) High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placenta. BMC Genetics , 11 , Article 25. 10.1186/1471-2156-11-25. Green and gold open access
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Dartnell, LR; Hunter, SJ; Lovell, KV; Coates, AJ; Ward, JM; (2010) Low-Temperature Ionizing Radiation Resistance of Deinococcus radiodurans and Antarctic Dry Valley Bacteria. ASTROBIOLOGY , 10 (7) 717 - 732. 10.1089/ast.2009.0439.

Dattani, MT; Hindmarsh, PC; Tziaferi, V; (2010) Evaluation of Disordered Puberty. Brook's Clinical Pediatric Endocrinology: Sixth Edition 213 - 238. 10.1002/9781444316728.ch10.

Davison, JE; Hendriksz, CJ; Sun, Y; Davies, NP; Gissen, P; Peet, AC; (2010) Quantitative in vivo brain magnetic resonance spectroscopic monitoring of neurological involvement in mucopolysaccharidosis type II (Hunter Syndrome). J Inherit Metab Dis , 33 Suppl 3 S395 - S399. 10.1007/s10545-010-9197-0.

Davison, JE; Sun, Y; Wilson, M; Chakrapani, A; Hendriksz, CJ; Vijay, S; ... Gissen, P; + view all (2010) LACTIC ACID AND BEYOND: QUANTITATIVE IN VIVO METABOLOMIC ANALYSIS OF MITOCHONDRIAL DISEASE USING MAGNETIC RESONANCE SPECTROSCOPY. J INHERIT METAB DIS , 33 S87 - S87.

Davison, JE; Wilson, M; Vijay, S; MacPherson, L; Peet, AC; Gissen, P; (2010) NAIL POLISH REMOVER AND THE DEVELOPING BRAIN: ANTENATAL ONSET PYRUVATE CARBOXYLASE DEFICIENCY. J INHERIT METAB DIS , 33 S70 - S70.

Duberley, KEC; Heales, SJR; Rahman, S; Allen, G; Hargreaves, IP; (2010) ESTABLISHMENT OF A NEURONAL CELL MODEL OF COENZYME Q10 DEFICIENCY: IMPLICATIONS FOR PATHOGENESIS AND TREATMENT OF DISORDERS OF COENZYME Q10 BIOSYNTHESIS. In: J INHERIT METAB DIS. (pp. S80 - S80). SPRINGER

E

Ebberink, MS; Csanyi, B; Chong, WK; Denis, S; Sharp, P; Mooijer, PAW; ... Ferdinandusse, S; + view all (2010) Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene. J MED GENET , 47 (9) 608 - 615. 10.1136/jmg.2009.074302.

F

Fassone, E; Duncan, AJ; Rahman, S; (2010) Complex I-deficient Leigh syndrome caused by a novel homozygous deletion in NDUFS4. In: NEUROMUSCULAR DISORDERS. (pp. S25 - S26). PERGAMON-ELSEVIER SCIENCE LTD

Fassone, E; Duncan, AJ; Taanman, JW; Pagnamenta, AT; Sadowski, MI; Holand, T; ... Rahman, S; + view all (2010) FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy. HUM MOL GENET , 19 (24) 4837 - 4847. 10.1093/hmg/ddq414.

Fiocco, F.; (2010) Identification of novel interacting partners of the pre-mRNA processing factor 31. Doctoral thesis, UCL (University College London). Green open access
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Flanagan, S. E.; Kapoor, R. R.; Mali, G.; Cody, D.; Murphy, N.; Schwahn, B.; ... Ellard, S.; + view all (2010) Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations. European Journal of Endocrinology , 162 (5) pp. 987-992. 10.1530/EJE-09-0861. Green open access
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Flanagan, SE; Kapoor, RR; Mali, G; Cody, D; Murphy, N; Schwahn, B; ... Ellard, S; + view all (2010) Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations. EUR J ENDOCRINOL , 162 (5) 987 - 992. 10.1530/EJE-09-0861.

Fratter, C; Gorman, GS; Stewart, JD; Buddles, M; Smith, C; Evans, J; ... Taylor, RW; + view all (2010) The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO. NEUROLOGY , 74 (20) 1619 - 1626.

Fratter, C; Gorman, GS; Stewart, JD; Buddles, M; Smith, C; Evans, J; ... Taylor, RW; + view all (2010) The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO. NEUROLOGY , 74 (20) 1619 - 1626.

Frost, JM; Monk, D; Stojilkovic-Mikic, T; Woodfine, K; Chitty, LS; Murrell, A; ... Moore, GE; + view all (2010) Evaluation of allelic expression of imprinted genes in adult human blood. PLoS One , 5 (10) , Article e13556. 10.1371/journal.pone.0013556. Green and gold open access
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Frost, JM; Moore, GE; (2010) The importance of imprinting in the human placenta. PLoS Genetics , 6 (7) , Article e1001015. 10.1371/journal.pgen.1001015. Green and gold open access
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Frost, JM; Udayashankar, R; Moore, HD; Moore, GE; (2010) Telomeric NAP1L4 and OSBPL5 of the KCNQ1 cluster, and the DECORIN gene are not imprinted in human trophoblast stem cells. PLOS One , 5 (7) , Article e11595. 10.1371/journal.pone.0011595. Green and gold open access
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G

Garcia-Obregon, S; Alfonso-Sanchez, MA; Perez-Miranda, AM; Gomez-Perez, L; de Pancorbo, MM; Pena, JA; (2010) Genetic variability in autochthonous Basques from Guipuzcoa: a view from MHC microsatellites. INT J IMMUNOGENET , 37 (4) 279 - 287. 10.1111/j.1744-313X.2010.00921.x.

Garin, I; Rica, I; Martínez, R; Fernández-Rebollo, E; Castaño, L; De Nanclares, GP; ... Cinek, O; + view all (2010) Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis. Proceedings of the National Academy of Sciences of the United States of America , 107 (7) 3105 - 3110. 10.1073/pnas.0910533107.

Gaston-Massuet, C; Andoniadou, CL; Signore, M; Jayakody, S; Charolidi, N; Le Tissier, P; ... Martinez-Barbera, JP; + view all (2010) Enhancement of the Canonical Wnt Pathway in Rathke's Pouch Results in Pituitary Tumours Reminiscent of Human Adamantinomatous Craniopharyngioma. In: ENDOCRINE REVIEWS. (pp. S2523 - S2523). ENDOCRINE SOC

Gissen, P; (2010) Defects in VIPAR and VPS33B cause Arthrogryposis, Renal dysfunction and Cholestasis syndrome (ARC) and disturbed apical-basolateral polarity. In: JOURNAL OF MEDICAL GENETICS. (pp. S37 - S37). B M J PUBLISHING GROUP

Gomez-Perez, L; Alfonso-Sanchez, MA; Perez-Miranda, AM; Garcia-Obregon, S; Builes, JJ; Bravo, ML; ... Pena, JA; + view all (2010) Genetic admixture estimates by Alu elements in Afro-Colombian and Mestizo populations from Antioquia, Colombia. ANN HUM BIOL , 37 (4) 488 - 500. 10.3109/03014460903433810.

Gozzi, T; Fluck, CE; L'Allemand, D; Dattani, MT; Hindmarsh, PC; Mullis, PE; (2010) Do centimetres matter? Self-reported versus estimated height measurements in parents. ACTA PAEDIATR , 99 (4) 569 - 574. 10.1111/j.1651-2227.2009.01654.x.

Graves, T; Phadke, R; Holton, JL; Hanna, MG; Rahman, S; Bhardwaj, N; (2010) ELECTRON MICROSCOPY DOES NOT ADD TO THE DIAGNOSTIC ACCURACY OF MUSCLE BIOPSY FOR SUSPECTED MITOCHONDRIAL DISEASE. In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. (pp. E65 - E65). B M J PUBLISHING GROUP

Guclu, M; Lin, L; Erturk, E; Achermann, JC; Cangul, H; (2010) Puberty, stress, and sudden death. LANCET , 376 (9751) 1512 - 1512.

H

Harron, K; McKinney, PA; Feltbower, RG; Stephenson, CR; Bodansky, HJ; Norman, P; Parslow, RC; (2010) INCIDENCE RATE TRENDS IN CHILDHOOD TYPE 1 DIABETES IN YORKSHIRE, 1978-2007: EFFECTS OF ETHNICITY AND AGE AT DIAGNOSIS. J EPIDEMIOL COMMUN H , 64 A8 - A8. 10.1136/jech.2010.120956.20.

Harron, K; McKinney, PA; Feltbower, RG; Stephenson, CR; Norman, PD; Bodansky, HJ; ... Parslow, RC; + view all (2010) Ethnic differences in incidence rates of childhood type 1 diabetes in Yorkshire 1978-2007. In: DIABETOLOGIA. (pp. S143 - S143). SPRINGER

Hartley, JL; Bruce, C; Mckay, K; Brown, RM; Baumann, U; Sturm, E; ... Gissen, P; + view all (2010) THE USE OF BRUM1 RESEQUENCING MICROARRAY TO IDENTIFY MUTATIONS IN PATIENTS WITH NEONATAL CHOLESTASIS. In: HEPATOLOGY. (pp. 1032A - 1033A). WILEY-BLACKWELL

Hartley, JL; Zachos, NC; Dawood, B; Donowitz, M; Forman, J; Pollitt, RJ; ... Maher, ER; + view all (2010) Mutations in TTC37 Cause Trichohepatoenteric Syndrome (Phenotypic Diarrhea of Infancy). GASTROENTEROLOGY , 138 (7) 2388 - U249. 10.1053/j.gastro.2010.02.010.

Hartley, JL; Zachos, NC; Dawood, B; Donowitz, M; Forman, J; Pollitt, RJ; ... Maher, ER; + view all (2010) Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhoea of infancy). In: JOURNAL OF MEDICAL GENETICS. (pp. S25 - S25). B M J PUBLISHING GROUP

Heales, SJR; Manwaring, V; Mills, K; Berry, A; Allen, G; Heywood, W; Burke, D; (2010) GLUCOCEREBROSIDASE ACTIVITY & PARKINSONISM-POTENTIAL PATHOGENIC MECHANISMS. J INHERIT METAB DIS , 33 S129 - S129.

Hendriksz, C; Bruce, C; Gissen, P; (2010) Molecular diagnosis of Lysosomal Storage Disorders by using resequencing array technology. In: MOLECULAR GENETICS AND METABOLISM. (pp. S20 - S20). ACADEMIC PRESS INC ELSEVIER SCIENCE

Heywood, WE; Mills, KM; Yuzugulen, J; Worthington, V; Wang, D; Mills, PB; ... Grunewald, S; + view all (2010) PROTEOMIC ANALYSIS REVEALS POTENTIAL ALTERNATIVE MARKER PROTEINS FOR THE DIAGNOSIS OF CONGENITAL DISORDERS OF GLYCOSYLATION TYPES I AND II. J INHERIT METAB DIS , 33 S73 - S73.

Hiby, SE; Apps, R; Sharkey, AM; Farrell, LE; Gardner, L; Mulder, A; ... Moffett, A; + view all (2010) Maternal activating KIRs protect against human reproductive failure mediated by fetal HLA-C2. JOURNAL OF CLINICAL INVESTIGATION , 120 (11) 4102 - 4110. 10.1172/JCI43998.

Hindmarsh, PC; (2010) Current indications for growth hormone therapy. Preface. Endocr Dev , 18 VII - ?.

Hindmarsh, PC; Bryan, S; Geary, MPP; Cole, TJ; (2010) Effects of Current Size, Postnatal Growth, and Birth Size on Blood Pressure in Early Childhood. PEDIATRICS , 126 (6) E1507 - E1513. 10.1542/peds.2010-0358.

Hunt, J; Macdonald, F; Bell, J; Gissen, P; (2010) Implementation of a Diagnostic Service for Niemann-Pick Type C Testing. In: JOURNAL OF MEDICAL GENETICS. (pp. S67 - S67). B M J PUBLISHING GROUP

Hussain, K; (2010) Congenital hyperinsulinism and neonatal diabetes mellitus. REV ENDOCR METAB DIS , 11 (3) 155 - 156. 10.1007/s11154-010-9152-2.

Hussain, K; (2010) Mutations in pancreatic beta-cell Glucokinase as a cause of hyperinsulinaemic hypoglycaemia and neonatal diabetes mellitus. REV ENDOCR METAB DIS , 11 (3) 179 - 183. 10.1007/s11154-010-9147-z.

Hyland, K; Shoffner, J; Heales, SJ; (2010) Cerebral folate deficiency. J Inherit Metab Dis , 33 (5) 563 - 570. 10.1007/s10545-010-9159-6.

I

Idkowiak, J; O'Riordan, S; Malunowicz, EM; Collins, F; Kerstens, M; Reisch, N; ... Arlt, W; + view all (2010) Pubertal Presentation in Congenital Adrenal Hyperplasia Due to P450 Oxidoreductase Deficiency. In: ENDOCRINE REVIEWS. (pp. ? - ?). ENDOCRINE SOC

Igreja, S; Chahal, HS; King, P; Bolger, GB; Srirangalingam, U; Guasti, L; ... Int FIPA Consortiumz,; + view all (2010) Characterization of Aryl Hydrocarbon Receptor Interacting Protein (AIP) Mutations in Familial Isolated Pituitary Adenoma Families. HUM MUTAT , 31 (8) 950 - 960. 10.1002/humu.21292.

Ioannou, N; Hargreaves, IP; Allen, G; Duberley, K; Land, JM; Heales, SJ; (2010) Bezafibrate induced increase in mitochondrial electron transport chain complex IV activity in human astrocytoma cells: Implications for mitochondrial cytopathies and neurodegenerative diseases. Biofactors , 36 (6) 468 - 473. 10.1002/biof.120.

Ioannou, N; Hargreaves, IP; Allen, G; Duberley, K; Land, JM; Heales, SJR; (2010) Bezafibrate induced increase in mitochondrial electron transport chain complex IV activity in human astrocytoma cells: Implications for mitochondrial cytopathies and neurodegenerative diseases. BIOFACTORS , 36 (6) 468 - 473. 10.1002/biof.120.

Isidor, B; Pichon, O; Redon, R; Day-Salvatore, D; Hamel, A; Siwicka, KA; ... Le Caignec, C; + view all (2010) Mesomelia-Synostoses Syndrome Results from Deletion of SULF1 and SLCO5A1 Genes at 8q13. AM J HUM GENET , 87 (1) 95 - 100. 10.1016/j.ajhg.2010.05.012.

Ismail, D; Hussain, K; (2010) Role of 18F-DOPA PET/CT imaging in congenital hyperinsulinism. REV ENDOCR METAB DIS , 11 (3) 165 - 169. 10.1007/s11154-010-9145-1.

K

Kapoor, R.; (2010) Defining genotype-phenotype correlations in children with congenital hyperinsulinism. Doctoral thesis, UCL (University College London). Green open access
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Kapoor, RR; Heslegrave, A; Hussain, K; (2010) Congenital Hyperinsulinism due to mutations in HNF4A and HADH. REV ENDOCR METAB DIS , 11 (3) 185 - 191. 10.1007/s11154-010-9148-y.

Kayemba-Kay's, S; Ribrault, A; Burguet, A; Gouyon, JB; Riethmuller, D; Menget, A; Hindmarsh, PC; (2010) Maternal smoking during pregnancy and fetal growth. Effects in preterm infants of gestational age less than 33 weeks. Swiss Med Wkly , 140 w13139 - ?. 10.4414/smw.2010.13139.

Khadilkar, VV; Khadilkar, AV; Kapoor, RR; Hussain, K; Hattersley, AT; Ellard, S; (2010) KCNJ11 activating mutation in an indian family with remitting and relapsing diabetes. Indian Journal of Pediatrics , 77 (5) 551 - 554. 10.1007/s12098-010-0062-9.

Kinsler, V; (2010) Paediatric Dermatology. In: Lewis-Jones, S, (ed.) Paediatric Dermatology. (? - ?). Oxford University Press, USA

Knisely, AS; Gissen, P; (2010) Trafficking and Transporter Disorders in Pediatric Cholestasis. CLIN LIVER DIS , 14 (4) 619 - +. 10.1016/j.cld.2010.08.001.

Kohler, B; Achermann, JC; (2010) Update - Steroidogenic factor 1 (SF-1, NR5A1). MINERVA ENDOCRINOL , 35 (2) 73 - 85.

Kranendijk, M; Struys, EA; Gibson, KM; Wickenhagen, WV; Abdenur, JE; Buechner, J; ... Salomons, GS; + view all (2010) Evidence for Genetic Heterogeneity in D-2-Hydroxyglutaric Aciduria. HUM MUTAT , 31 (3) 279 - 283. 10.1002/humu.21186.

Kumaran, A; Kapoor, RR; Flanagan, SE; Ellard, S; Hussain, K; (2010) Congenital Hyperinsulinism due to a Compound Heterozygous ABCC8 Mutation with Spontaneous Resolution at Eight Weeks. HORM RES PAEDIAT , 73 (4) 287 - 292. 10.1159/000284394.

Kumaran, A; Kar, S; Kapoor, RR; Hussain, K; (2010) The Clinical Problem of Hyperinsulinemic Hypoglycemia and Resultant Infantile Spasms. PEDIATRICS , 126 (5) E1231 - E1236. 10.1542/peds.2009-2775.

Kurian, M; Meyer, E; Vassallo, G; Morgan, NV; Prakash, N; Hai, N; ... Maher, ER; + view all (2010) Phospholipase C Beta 1 (PLCB1) Deficiency is associated with Early Onset Epileptic Encephalopathy. In: JOURNAL OF MEDICAL GENETICS. (pp. S24 - S24). B M J PUBLISHING GROUP

Kurian, MA; Meyer, E; Vassallo, G; Morgan, NV; Prakash, N; Pasha, S; ... Maher, ER; + view all (2010) Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy. BRAIN , 133 2964 - 2970. 10.1093/brain/awq238.

L

Land, JM; Heales, SJR; (2010) Hyperprolactinaemia and mental illness. ANN CLIN BIOCHEM , 47 576 - 576. 10.1258/acb.2010.010178.

Leen, WG; Klepper, J; Verbeek, MM; Leferink, M; Hofste, T; van Engelen, BG; ... Willemsen, MA; + view all (2010) Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. Brain , 133 (Pt 3) 655 - 670. 10.1093/brain/awp336.

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This list was generated on Sun Apr 13 05:52:51 2014 BST.