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Number of items: 75.

A

Abu-Amero, S; Monk, D; Apostolidou, S; Stanier, P; Moore, G; (2006) Imprinted genes and their role in human fetal growth. CYTOGENET GENOME RES , 113 (1-4) 262 - 270. 10.1159/000090841.

Achermann, JC; Jameson, JL; (2006) Disorders of sexual differentiation. In: Jameson, JL, (ed.) Harrison’s endocrinology. (161 - 172). McGraw-Hill: New York.

Alkhayyat, H; Christesen, HBT; Steer, J; Stewart, H; Brusgaard, K; Hussain, K; (2006) Mosaic Turner syndrome and hyperinsulinaemic hypoglycaemia. J PEDIATR ENDOCR MET , 19 (12) 1451 - 1457.

Apostolidou, S; Abu-Amero, S; O'Donoghue, K; Olafsdottir, O; Chavele, KM; Frost, J; ... Moore, GE; + view all (2006) Elevated maternal expression of the imprinted PHLDA2 gene is associated with low birth weight. In: JOURNAL OF MEDICAL GENETICS. (pp. S67 - S67). B M J PUBLISHING GROUP

Auray-Blais, C; Cyr, D; Giguere, R; Lemieux, B; Mills, K; Drouin, R; (2006) A rapid and simple liquid chromatography-tandem mass spectrometry (LC-MS/MS) method for urinary GL-3 analysis in Fabry disease. J INHERIT METAB DIS , 29 22 - 22.

B

Bitner-Glindzicz, M; Bajaj, Y; Sirimanna, T; Quader, P; Jenkins, L; Loughlin, S; ... Albert, D; + view all (2006) Aetiology of sensorineural hearing loss in British Bangladeshi children in East London. In: JOURNAL OF MEDICAL GENETICS. (pp. S44 - S44). B M J PUBLISHING GROUP

Bitner-Glindzicz, M; Osei-Lah, V; Colvin, I; Lucas, D; MacArdle, B; Sirimanna, T; ... Rahman, S; + view all (2006) Aminoglycoside-induced deafness: prevention by genetic testing is cost-effective. In: Journal of Medical Genetics. (pp. S43 - S43).

Bitner-Glindzicz, M; Osei-Lah, V; Colvin, I; Lucas, D; MacArdle, B; Sirimanna, T; ... Rahman, S; + view all (2006) Aminoglycoside-induced deafness: prevention by genetic testing is cost-effective. In: JOURNAL OF MEDICAL GENETICS. (pp. S43 - S43). B M J PUBLISHING GROUP

Brooke, AM; Taylor, NF; Shepherd, JH; Gore, ME; Ahmad, T; Lin, L; ... Monson, JP; + view all (2006) A novel point mutation in P450c17 (CYP17) causing combined 17 alpha-hydroxylase/17,20-lyase deficiency. The Journal of Clinical Endocrinology & Metabolism , 91 (6) 2428 - 2431. 10.1210/jc.2005-2653. Green open access
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Bryan, SM; Hindmarsh, PC; (2006) Normal and abnormal fetal growth. HORMONE RESEARCH , 65 19 - 27. 10.1159/000091502.

Bygren, LO; Kaati, G; Edvinsson, S; Pembrey, ME; (2006) Epigenetics or ephemeral genetics? EUR J HUM GENET

Bygren, LO; Kaati, G; Edvinsson, S; Pembrey, ME; (2006) Epigenetics or ephemeral genetics? Reply to Senn. European Journal of Human Genetics , 14 (11) 1149 - 1150.

C

Calderón, R; Pérez-Miranda, AM; Fuciarelli, M; Scano, G; Carrión, M; Alfonso-Sánchez, MA; ... De Stefano, G; + view all (2006) Genetic polymorphisms in autochthonous Basques from northern Navarre. Anthropol Anz , 64 (2) 173 - 187.

Cameron, FG; Johnston, LB; Cowell, CT; Achermann, JC; (2006) Highlights of the 44th Meeting of the European Society for Paediatric Endocrinology (ESPE). Highlights , 14 (5) 1 - 32.

Clayton, PT; (2006) Disorders of bile acid synthesis. In: UNSPECIFIED (341 - 351).

Clayton, PT; (2006) Disorders of bile acid synthesis. Inborn Metabolic Diseases: Diagnosis and Treatment 421 - 430. 10.1007/978-3-540-28785-8_34.

Clayton, PT; (2006) Pyridoxine-dependent epilepsy due to alpha-aminoadipic semialdehyde dehydrogenase (antiquitin) deficiency. In: Scriver, CEA, (ed.) The On-line Metabolic and Molecular Bases of Inherited Disease.

Connell, F; Ruddy, D; Jenkins, L; Bitner-Glindzicz, M; (2006) Molecular analysis and genetic counselling in deaf-deaf marriages. In: JOURNAL OF MEDICAL GENETICS. (pp. S44 - S44). B M J PUBLISHING GROUP

D

de-Souza, BF; Lin, L; Achermann, JC; (2006) Steroidogenic factor-1 (SF-1) and its relevance to pediatric endocrinology. Pediatr Endocrinol Rev , 3 (4) 359 - 364.

E

Ennis, S; Murray, A; Youings, S; Brightwell, G; Herrick, D; Ring, S; ... Jacobs, PA; + view all (2006) An investigation of FRAXA intermediate allele phenotype in a longitudinal sample. Annals of Human Genetics , 70 170 - 180.

F

Fafoula, O; Alkhayyat, H; Hussain, K; (2006) Prolonged hyperinsulinaemic hypoglycaemia in newborns with intrauterine growth retardation. ARCH DIS CHILD-FETAL , 91 (6) F467 - F467. 10.1136/adc.2006.095919.

Ferraz-de-Souza, B; Woodruff, TK; Achermann, JC; (2006) Reproductive Endocrinology. In: Carel, JC and Hochberg, Z, (eds.) Yearbook of pediatric endocrinology 2006. (87 - 101). Karger: Basel.

Ferretti, P; Copp, AJ; Tickle, C; Moore, GE; (2006) Embryos, Genes and Birth Defects. (2nd ed ed.). John Wiley & Sons: Chichester, England.

G

Gissen, P; Tee, L; Johnson, CA; Genin, E; Caliebe, A; Chitayat, D; ... Maher, ER; + view all (2006) Clinical and molecular genetic features of ARC syndrome. HUM GENET , 120 (3) 396 - 409. 10.1007/s00439-006-0232-z.

H

Hartley, J; Gissen, P; Dawood, B; Watson, S; Pollitt, R; Kahr, W; ... Johnson, C; + view all (2006) Clinical phenotype and autozygosity mapping of phenotypic diarrhoea of infancy. In: JOURNAL OF MEDICAL GENETICS. (pp. S69 - S69). B M J PUBLISHING GROUP

Henriksen, N; Brusgaard, K; Christesen, HT; Hussain, K; Jacobsen, BB; (2006) Gene expression studies with microarray: application to RNA extracted from formalin-fixed, paraffin-embedded pancreatic tissue from patients with congenital hyperinsulinism. Hormone Research , 65 64 - 64.

Heude, B; Petry, CJ; Pembrey, M; Dunger, DB; Ong, KK; (2006) The insulin gene VNTR: associations and interactions with childhood body fat mass and insulin secretion in normal children. J Clin Endocrinol Metab

Houk, CP; Hughes, IA; Ahmed, SF; Lee, PA; (2006) Summary of consensus statement on intersex disorders and their management. International Intersex Consensus Conference. Pediatrics , 118 (2) 753 - 757.

Hussain, K; (2006) Hyperinsulinism of infancy. Physician's Guide to the Treatment and Follow-Up of Metabolic Diseases 369 - 380. 10.1007/3-540-28962-3_37.

Hussain, K; Clayton, PT; Krywawych, S; Chatziandreou, I; Mills, P; Ginbey, DW; ... Eaton, S; + view all (2006) RP408. In: (Proceedings) Hyperinsulinism of infancy associated with a novel splice site mutation in the SCHAD gene. (pp. 706 - 708).

Hussain, K; Preece, M; (2006) Applied physiology: Understanding growth. Current Paediatrics , 16 (6) 430 - 433. 10.1016/j.cupe.2006.07.014.

Hussain, K; Seppanen, M; Nanto-Salonen, K; Adzick, NS; Stanley, CA; Thornton, P; Minn, H; (2006) Clinical case seminar - The diagnosis of ectopic focal hyperinsulinism of infancy with [F-18]-dopa positron emission tomography. J CLIN ENDOCR METAB , 91 (8) 2839 - 2842. 10.1210/jc.2006-0455.

Hussain, K; Seppänen, M; Näntö-Salonen, K; Adzick, NS; Stanley, CA; Thornton, P; Minn, H; (2006) The diagnosis of ectopic focal hyperinsulinism of infancy with [18F]-dopa positron emission tomography. J Clin Endocrinol Metab , 91 (8) 2839 - 2842. 10.1210/jc.2006-0455.

Hutz, JE; Krause, AS; Achermann, JC; Vilain, E; Tauber, M; Lecointre, C; ... Keegan, CE; + view all (2006) IMAGe association and congenital adrenal hypoplasia: No disease-causing mutations found in the ACD gene. MOL GENET METAB , 88 (1) 66 - 70. 10.1016/j.ymgme.2006.01.006.

J

Jaeken, J; Jakobs, C; Clayton, PT; Wevers, RA; (2006) Disorders of neurotransmission. In: UNSPECIFIED (359 - 372).

K

Kay'S,; Sk,; Christin,; P,; Ingrand,; P,; ... P,; + view all (2006) Catch-up growth in VLBW plus IUGR infants. Anthropometric case-control study of 78 children with gestational age < 33 weeks. Hormone Research , 65 165 - 165.

Kay's, SK; Hindmarsh, PC; (2006) Catch-up growth: an overview. Pediatr Endocrinol Rev , 3 (4) 365 - 378.

Kelberman, D; Dattani, MT; (2006) The role of transcription factors implicated in anterior pituitary development in the aetiology of congenital hypopituitarism. ANN MED , 38 (8) 560 - 577. 10.1080/07853890600994963.

Kelberman, D.; Rizzoti, K.; Avilion, A.; Bitner-Glindzicz, M.; Cianfarani, S.; Collins, J.; ... Dattani, M.T.; + view all (2006) Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans. Journal of Clinical Investigation , 116 (9) pp. 2422-2455. 10.1172/JCI28658. Green open access
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L

Laube, GF; Shah, V; Stewart, VC; Hargreaves, IP; Haq, MR; Heales, SJR; van't Hoff, WG; (2006) Glutathione depletion and increased apoptosis rate in human cystinotic proximal tubular cells. PEDIATR NEPHROL , 21 (4) 503 - 509. 10.1007/s00467-006-0005-x.

Lee, PA; Houk, CP; Ahmed, SF; Hughes, IA; (2006) Consensus statement on management of intersex disorders: International Consensus Conference on Intersex. Pediatrics , 118 (2) e488 - 500.

Lin, L; Gu, WX; Ozisik, G; To, WS; Owen, CJ; Jameson, JL; Achermann, JC; (2006) Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: Ten years' experience. The Journal of Clinical Endocrinology & Metabolism , 91 (8) 3048 - 3054. 10.1210/jc.2006-0603. Green open access
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M

Mills, K; Mills, P; Jackson, M; Worthington, V; Beesley, C; Mann, A; ... Winchester, B; + view all (2006) Diagnosis of congenital disorders of glyclosylation type-I using protein chip technology. PROTEOMICS , 6 (7) 2295 - 2304. 10.1002/pmic.200500682.

Mills, K.; Mills, P.; Jackson, M.; Worthington, V.; Beesley, C.; Mann, A.; ... Winchester, B.; + view all (2006) Diagnosis of congenital disorders of glycosylation type-I using protein chip technology. Proteomics , 6 (7) pp. 2295-2304. 10.1002/pmic.200500682.

Mills, K.; Mills, P.; Jackson, M.; Worthington, V.; Beesley, C.; Mann, A.; ... Winchester, B.; + view all (2006) Diagnosis of congenital disorders of glycosylation type-I using protein chip technology. PROTEOMICS , 6 (7) pp. 2295-2304. 10.1002/pmic.200500682.

Monk, D; Apostolidou, S; Abu-Amero, S; Stanier, P; Moore, GE; Sanches, R; ... Friess, H; + view all (2006) Imprinting of IGF2 P0 transcript and novel alternatively spliced INS-IGF2 isoforms show differences between mouse and human. Human Molecular Genetics , 15 (8) 1259 - 1269. 10.1093/hmg/ddl041.

Monk, D; Apostolidou, S; Stanier, P; Moore, GE; Arnaud, P; Feil, R; ... Kelsey, G; + view all (2006) Limited evolutionary conservation of imprinting in the human placenta. Proceedings of the National Academy of Sciences of the United States of America , 103 (17) 6623 - 6628. 10.1073/pnas.0511031103.

Monk, D; Arnaud, P; Apostolidou, S; Kelsey, G; Stanier, P; Feil, R; Moore, GE; (2006) Dynamics of placental imprinting: a comparison between mouse and humans. In: Genetical Research. (pp. 70 - 70).

Monk, D.; Arnaud, P.; Apostolidou, S.; Hills, F.A.; Kelsey, G.; Stanier, P.; ... Moore, G.E.; + view all (2006) From the Cover: limited evolutionary conservation of imprinting in the human placenta. Proceedings of the National Academy of Sciences , 103 (17) pp. 6623-6628. 10.1073/pnas.0511031103.

Morgan, N; Westaway, SK; Morton, JEV; Gregory, A; Gissen, P; Sonek, S; ... Maher, ER; + view all (2006) The calcium-independent phospholipase A2 gene, PLA2G6, is mutated in a spectrum of childhood neurodegenerative disorders with high brain iron. In: JOURNAL OF MEDICAL GENETICS. (pp. S27 - S27). B M J PUBLISHING GROUP

P

Pagarkar, W; Bitner-Glindzicz, M; Knight, J; Sirimanna, T; (2006) Late postnatal onset of hearing loss due to GJB2 mutations. INT J PEDIATR OTORHI , 70 (6) 1119 - 1124. 10.1016/j.ijporl.2005.10.026.

Pagnamenta, A.T.; Taanman, J.-W.; Wilson, C.J.; Anderson, N.E.; Marotta, R.; Duncan, A.J.; ... Rahman, S.; + view all (2006) Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma. Human Reproduction , 21 (10) pp. 2467-2473. 10.1093/humrep/del076.

Pagnamenta, AT; Hargreaves, IP; Duncan, AJ; Taanman, JW; Heales, SJ; Land, JM; ... Rahman, S; + view all (2006) Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II. MOL GENET METAB , 89 (3) 214 - 221. 10.1016/j.ymgme.2006.05.003.

Pérez-Miranda, AM; Herrera, RJ; Alfonso-Sánchez, MA; (2006) Microsatellite polymorphisms in two Taiwanese aboriginal groups. International Congress Series , 1288 394 - 396. 10.1016/j.ics.2005.09.041.

Pembrey, ME; Bygren, LO; Kaati, G; Edvinsson, S; Northstone, K; Sjostrom, M; Golding, J; (2006) Sex-specific, male-line transgenerational responses in humans. EUR J HUM GENET , 14 (2) 159 - 166.

Pena, JA; Garcia-Obregon, S; Perez-Miranda, AM; De Pancorbo, MM; Alfonso-Sanchez, MA; (2006) Gene flow in the Iberian Peninsula determined from Y-chromosome STR loci. AM J HUM BIOL , 18 (4) 532 - 539. 10.1002/ajhb.20525.

PEREZ-MIRANDA, A; García-Obregón, S; Alfonso-Sánchez, MA; Vidales, C; Arroyo, D; Peña, JA; (2006) Genetic position of Valencia (Spain) in the Mediterranean basin according to Alu insertions. American Journal of Human Biology , 18 (2) 187 - 195. 10.1002/ajhb.20487.

Perez-Miranda, AM; Alfonso-Sanchez, MA; Pena, JA; Herrera, RJ; (2006) Qatari DNA variation at a crossroad of human migrations. HUM HERED , 61 (2) 67 - 79. 10.1159/000092648.

Peters, J; Holmes, R; Monk, D; Beechey, CV; Moore, GE; Williamson, CM; (2006) Imprinting control within the compact Gnas locus. CYTOGENETIC AND GENOME RESEARCH , 113 (1-4) 194 - 201. 10.1159/000090832.

Pierre, G; Gissen, P; Chakrapani, A; McDonald, A; Preece, M; Wright, J; (2006) Successful treatment of pyridoxine-unresponsive homocystinuria with betaine in pregnancy. J INHERIT METAB DIS , 29 (5) 688 - 689. 10.1007/s10545-006-0352-6.

Pope, SA; Milton, R; Clark, JB; Heales, SJ; (2006) Astrocytes derived factors in the protection of neurones against oxidative stress. In: JOURNAL OF NEUROCHEMISTRY. (pp. 46 - 46). BLACKWELL PUBLISHING

R

Ruddy, D; Moore, AT; Moore, AT; Palmer, R; Ekong, R; Spandoni, E; Bitner-Glindzicz, M; (2006) Congenital fibrosis of the extraocular muscles associated with a de-novo interstitial deletion of chromosome 6. In: JOURNAL OF MEDICAL GENETICS. (pp. S103 - S103). B M J PUBLISHING GROUP

S

Salomons, GS; Darmin, PS; Struys, EA; Verhoeven, NM; Abdenur, J; Sansaricq, C; ... Jakobs, C; + view all (2006) Mutations identified in D-2-hydroxyglutarate dehydrogenase in 14 out of 36 unrelated patients with D-2-hydroxyglutaric aciduria. J INHERIT METAB DIS , 29 40 - 40.

Sami, DA; Saunders, D; Thompson, DA; Russell-Eggitt, IM; Nischal, KK; Jeffrey, G; ... Taylor, DS; + view all (2006) Erratum: The achiasmia spectrum: Congenitally reduced chiasmal decussation (British Journal of Ophthalmology (2005) 89 (1311-1317)). British Journal of Ophthalmology , 90 (1) 125 - 125. 10.1136/bjo.2005.68171corr1.

Sami, DA; Saunders, D; Thompson, DA; Russell-Eggitt, IM; Nischal, KK; Jeffrey, G; ... Taylor, DS; + view all (2006) The achiasmia spectrum: congenitally reduced chiasmal decussation (vol 89, pg 1311, 2005). BRIT J OPHTHALMOL , 90 (1) 125 - 125. 10.1136/bjo.2005.68171.

Sanseverino, MTV; de Souza, CFM; Gissen, P; Sordi, AO; Magalhaes, JA; Schuler-Faccini, L; (2006) Increased nuchal translucency in arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome and discovery of a Portuguese specific mutation in the VPS33B gene. ULTRASOUND OBST GYN , 28 (2) 233 - 234. 10.1002/uog.2822.

Saukkonen, T; Shojaee-Moradie, F; Williams, RM; Amin, R; Yuen, KC; Watts, A; ... Dunger, DB; + view all (2006) Effects of recombinant human IGF-I/IGF-binding protein-3 complex on glucose and glycerol metabolism in type 1 diabetes. Diabetes , 55 (8) 2365 - 2370. 10.2337/db05-1646.

Sleven, H; Gibbs, JE; Heales, S; Thom, M; Cock, HR; (2006) Depletion of reduced glutathione precedes inactivation of mitochondrial enzymes following limbic status epilepticus in the rat hippocampus. NEUROCHEM INT , 48 (2) 75 - 82. 10.1016/j.neuint.2005.10.002.

Stanyer, L; Jorgensen, W; Clark, JB; Heales, SJ; (2006) Oxidative inactivation of mitochondrial ion protease precedes electron transport chain (ETC) dysfunction. In: JOURNAL OF NEUROCHEMISTRY. (pp. 50 - 50). BLACKWELL PUBLISHING

Surtees, R; Mills, P; Clayton, P; (2006) Inborn errors affecting vitamin B6 metabolism. Future Neurology , 1 (5) 615 - 620.

T

Thomas, AC; Cullup, T; Norgett, EE; Kelsell, D; (2006) ABCA12 is the Major Harlequin Ichthyosis Gene. Journal of Investigative Dermatology

Thompson, R; Christie, D; Hindmarsh, P; (2006) The role of insulin analogues in diabetes care. Current Paediatrics , 16 (2) 117 - 122.

W

Waterham, HR; Clayton, PT; (2006) Disorders of cholesterol synthesis. Inborn Metabolic Diseases: Diagnosis and Treatment 411 - 420. 10.1007/978-3-540-28785-8_33.

Wilson, JN; Kinsler, V; Mallone, M; Chong, K; Thompson, D; Vorster, J; Atherton, D; (2006) Congenital neurocristic hamartoma presenting as tumour within the central nervous system. British Journal of Dermatology , 155 (3) 645 - 645.

Z

Zeevaert, R; Carchon, H; Mills, P; Winchester, B; Jaeken, J; (2006) Isolated increase of trisialotransferrin in the serum of CDG patients with evidence for a defect in demannosylation. J INHERIT METAB DIS , 29 48 - 48.

This list was generated on Sun Jul 20 07:12:41 2014 BST.