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Number of items: 105.

A

Abu-Amero, S and Monk, D and Apostolidou, S and Stanier, P and 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 and Jameson, JL (2006) Disorders of sexual differentiation. In: Jameson, JL, (ed.) Harrison’s endocrinology. (161 - 172). McGraw-Hill: New York.

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

Apostolidou, S and Abu-Amero, S and O'Donoghue, K and Olafsdottir, O and Chavele, KM and Frost, J and Whittaker, JC and Loughna, P and Stanier, P and Moore, GE (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

Ates, K and Yang, S and Sinanan, A and Golspink, G and Lewis, M (2006) Effects of MGF on human muscle stem cell proliferation in dystrophic, ALS and healthy human muscle. In: FEBS JOURNAL. (pp. 128 - 128). BLACKWELL PUBLISHING

Auray-Blais, C and Cyr, D and Giguere, R and Lemieux, B and Mills, K and 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

Baker, BY and Lin, L and Kim, CJ and Raza, J and Smith, CP and Miller, WL and Achermann, JC (2006) Nonclassic congenital lipoid adrenal hyperplasia: A new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia. J CLIN ENDOCR METAB , 91 (12) 4781 - 4785. 10.1210/jc.2006-1565.

Barenco, M and Tomescu, D and Brewer, D and Callard, R and Stark, J and Hubank, M (2006) Ranked prediction of p53 targets using hidden variable dynamic modeling. GENOME BIOL , 7 (3) , Article R25. 10.1186/gb-2006-7-3-r25.

Bitner-Glindzicz, M and Bajaj, Y and Sirimanna, T and Quader, P and Jenkins, L and Loughlin, S and Cortina-Borja, M and Albert, D (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 and Osei-Lah, V and Colvin, I and Lucas, D and MacArdle, B and Sirimanna, T and Webb, D and Shankar, A and Kingston, J and Jenkins, L and Rahman, S (2006) Aminoglycoside-induced deafness: prevention by genetic testing is cost-effective. In: Journal of Medical Genetics. (pp. S43 - S43).

Bitner-Glindzicz, M and Osei-Lah, V and Colvin, I and Lucas, D and MacArdle, B and Sirimanna, T and Webb, D and Shankar, A and Kingston, J and Jenkins, L and Rahman, S (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 and Taylor, NF and Shepherd, JH and Gore, ME and Ahmad, T and Lin, L and Rumsby, G and Papari-Zareei, M and Auchus, RJ and Achermann, JC and Monson, JP (2006) A novel point mutation in P450c17 (CYP17) causing combined 17 alpha-hydroxylase/17,20-lyase deficiency. J CLIN ENDOCR METAB , 91 (6) 2428 - 2431. 10.1210/jc.2005-2653.

Bryan, SM and Hindmarsh, PC (2006) Normal and abnormal fetal growth. HORMONE RESEARCH , 65 19 - 27. 10.1159/000091502.

Burren, KA and Mills, K and Copp, AJ and Greene, NDE (2006) Quantitative analysis of s-adenosylmethionine and s-adenosylhomocysteine in neurulation-stage mouse embryos by liquid chromatography tandem mass spectrometry. J CHROMATOGR B , 844 (1) 112 - 118. 10.1016/j.jchromb.2006.07.012.

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

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

C

Calderón, R and Pérez-Miranda, AM and Fuciarelli, M and Scano, G and Carrión, M and Alfonso-Sánchez, MA and Peña, JA and Ambrosio, B and De Stefano, G (2006) Genetic polymorphisms in autochthonous Basques from northern Navarre. Anthropol Anz , 64 (2) 173 - 187.

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

Clayton, PT (2006) B6-responsive disorders: a model of vitamin dependency. J Inherit Metab Dis , 29 (2-3) 317 - 326. 10.1007/s10545-005-0243-2.

Clayton, PT (2006) Disorders of bile acid synthesis. In: Fernandes, J and Saudubray, JM and Van den Berghe, G, (eds.) Inherited Metabolic Diseases. Diagnosis and Treatment. Springer-Verlag: Berlin.

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 and Ruddy, D and Jenkins, L and 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 and Lin, L and Achermann, JC (2006) Steroidogenic factor-1 (SF-1) and its relevance to pediatric endocrinology. Pediatr Endocrinol Rev , 3 (4) 359 - 364.

Dunlevy, LP and Burren, KA and Mills, K and Chitty, LS and Copp, AJ and Greene, ND (2006) Integrity of the methylation cycle is essential for mammalian neural tube closure. Birth Defects Res A Clin Mol Teratol , 76 (7) 544 - 552. 10.1002/bdra.20286.

Durai, R and Davies, M and Yang, W and Yang, SY and Seifalian, A and Goldspink, G and Winslet, M (2006) Biology of insulin-like growth factor binding protein-4 and its role in cancer (review). Int J Oncol , 28 (6) 1317 - 1325.

E

Ennis, S and Murray, A and Youings, S and Brightwell, G and Herrick, D and Ring, S and Pembrey, M and Morton, NE and Jacobs, PA (2006) An investigation of FRAXA intermediate allele phenotype in a longitudinal sample. Annals of Human Genetics , 70 170 - 180.

F

Fafoula, O and Alkhayyat, H and 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 and Woodruff, TK and Achermann, JC (2006) Reproductive Endocrinology. In: Carel, JC and Hochberg, Z, (eds.) Yearbook of pediatric endocrinology 2006. (87 - 101). Karger: Basel.

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

Foulquier, F and Vasile, E and Schollen, E and Callewaert, N and Raemaekers, T and Quelhas, D and Jaeken, J and Mills, P and Winchester, B and Krieger, M and Annaert, W and Matthijs, G (2006) Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II. P NATL ACAD SCI USA , 103 (10) 3764 - 3769. 10.1073/pnas.0507685103.

G

Gandhi, S and Muqit, MMK and Stanyer, L and Healy, DG and Abou-Sleiman, PM and Hargreaves, I and Heales, S and Ganguly, M and Parsons, L and Lees, AJ and Latchman, DS and Holton, JL and Wood, NW and Revesz, T (2006) PINK1 protein in normal human brain and Parkinson's disease. BRAIN , 129 1720 - 1731. 10.1093/brain/awl114.

Garcia-Obregon, S and Alfonso-Sanchez, MA and Perez-Miranda, AM and Vidales, C and Arroyo, D and Pena, JA (2006) Genetic position of Valencia (Spain) in the Mediterranean basin according to Alu insertions. AM J HUM BIOL , 18 (2) 187 - 195. 10.1002/ajhb.20487.

Gissen, P and Tee, L and Johnson, CA and Genin, E and Caliebe, A and Chitayat, D and Clericuzio, C and Denecke, J and Di Rocco, M and Fischler, B and FitzPatrick, D and Garcia-Cazorla, A and Guyot, D and Jacquemont, S and Koletzko, S and Leheup, B and Mandel, H and Sanseverino, MTV and Houwen, RHJ and McKiernan, PJ and Kelly, DA and Maher, ER (2006) Clinical and molecular genetic features of ARC syndrome. HUM GENET , 120 (3) 396 - 409. 10.1007/s00439-006-0232-z.

Giurgea, I and Bellanné-Chantelot, C and Ribeiro, M and Hubert, L and Sempoux, C and Robert, J-J and Blankenstein, O and Hussain, K and Brunelle, F and Nihoul-Fékété, C and Rahier, J and Jaubert, F and De Lonlay, P (2006) Molecular mechanisms of neonatal hyperinsulinism. Hormone Research , 66 (6) 289 - 296.

H

Hartley, J and Gissen, P and Dawood, B and Watson, S and Pollitt, R and Kahr, W and Chitayat, D and Kelly, D and Johnson, C (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 and Brusgaard, K and Christesen, HT and Hussain, K and 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 and Petry, CJ and Pembrey, M and Dunger, DB and 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

Hindmarsh, PC and Dattani, MT (2006) Use of growth hormone in children. NAT CLIN PRACT ENDOC , 2 (5) 260 - 268. 10.1038/ncpendmet0169.

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

Hughes, IA and Houk, C and Ahmed, SF and Lee, PA and Grp, LEC (2006) Consensus statement on management of intersex disorders. ARCHIVES OF DISEASE IN CHILDHOOD , 91 (7) 554 - 563. 10.1136/adc.2006.098319.

Hussain, K and Clayton, PT and Krywawych, S and Chatziandreou, I and Mills, P and Ginbey, DW and Geboers, AJ and Berger, R and van, D and Eaton, S (2006) RP408. In: (Proceedings) Hyperinsulinism of infancy associated with a novel splice site mutation in the SCHAD gene. (pp. 706 - 708).

Hussain, K and Preece, M (2006) Applied physiology: Understanding growth. Current Paediatrics , 16 (6) 430 - 433.

Hussain, K and Seppanen, M and Nanto-Salonen, K and Adzick, NS and Stanley, CA and Thornton, P and 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 and Seppänen, M and Näntö-Salonen, K and Adzick, NS and Stanley, CA and Thornton, P and 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 and Krause, AS and Achermann, JC and Vilain, E and Tauber, M and Lecointre, C and McCabe, ERB and Hammer, GD and Keegan, CE (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.

I

Idrees, F and Bloch-Zupan, A and Free, SL and Vaideanu, D and Thompson, PJ and Ashley, P and Brice, G and Rutland, P and Bitner-Glindzicz, M and Khaw, PT and Fraser, S and Sisodiya, SM and Sowden, JC (2006) A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypes. AM J MED GENET B , 141B (2) 184 - 191. 10.1002/ajmg.b.30237.

J

Jaeken, J and Jakobs, C and Weavers, RA and Clayton, PT (2006) Disorders of Neurotransmission. In: Fernandes, J and Saudubray, JM and Van den Berghe, G, (eds.) Inherited Metabolic Diseases. Springer-Verlag: Berlin.

K

Kay'S, and Sk, and Christin, and P, and Ingrand, and P, and Hindmarsh, and P, (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 and Hindmarsh, PC (2006) Catch-up growth: an overview. Pediatr Endocrinol Rev , 3 (4) 365 - 378.

Kelberman, D and Dattani, MT (2006) The role of transcription factors implicated in anterior pituitary development in the aetiology of congenital hypopituitarism. Annals of Medicine , 38 (8) 560 - 577.

Kelberman, D and 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 and Rizzoti, K and Avilion, A and Bitner-Glindzicz, M and Cianfarani, S and Collins, J and Chong, WK and Kirk, JMW and Achermann, JC and Ross, R and Carmignac, D and Lovell-Badge, R and Robinson, LCAF and Dattani, MT (2006) Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamopituitary-gonadal axis in mice and humans. J CLIN INVEST , 116 (9) 2442 - 2455. 10.1172/JCI28658.
An open access publication

Kelberman, D. and Rizzoti, K. and Avilion, A. and Bitner-Glindzicz, M. and Cianfarani, S. and Collins, J. and Chong, W.K. and Kirk, J.M.W. and Achermann, J.C. and Ross, R. and Carmignac, D. and Lovell-Badge, R. and Robinson, I.C.A.F. and Dattani, M.T. (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.
An open access version is available from UCL Discovery
 file

L

Laube, GF and Shah, V and Stewart, VC and Hargreaves, IP and Haq, MR and Heales, SJR and 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 and Houk, CP and Ahmed, SF and Hughes, IA (2006) Consensus statement on management of intersex disorders: International Consensus Conference on Intersex. Pediatrics , 118 (2) e488 - 500.

Lee, PA and Houk, CP and Ahmed, SF and Hughes, IA and Intersex, ICC (2006) Consensus statement on management of intersex disorders. PEDIATRICS , 118 (2) E488 - E500. 10.1524/peds.2006-0738.

Lin, L and Conway, GS and Hill, NR and Dattani, MT and Hindmarsh, PC and Achermann, JC (2006) A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia. J CLIN ENDOCR METAB , 91 (12) 5117 - 5121. 10.1210/jc.2006-0807.
An open access publication

Lin, L and Gu, WX and Ozisik, G and To, WS and Owen, CJ and Jameson, JL and Achermann, JC (2006) Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: Ten years' experience. J CLIN ENDOCR METAB , 91 (8) 3048 - 3054. 10.1210/jc.2006-0603.
An open access publication

M

Mills, K and Mills, P and Jackson, M and Worthington, V and Beesley, C and Mann, A and Clayton, P and Grunewald, S and Keir, G and Young, L and Langridge, J and Mian, N and Winchester, B (2006) Diagnosis of congenital disorders of glyclosylation type-I using protein chip technology. PROTEOMICS , 6 (7) 2295 - 2304. 10.1002/pmic.200500682.

Mills, K. and Mills, P. and Jackson, M. and Worthington, V. and Beesley, C. and Mann, A. and Clayton, P. and Grunewald, S. and Keir, G. and Young, L. and Langridge, J. and Mian, N. and Winchester, B. (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. and Mills, P. and Jackson, M. and Worthington, V. and Beesley, C. and Mann, A. and Clayton, P. and Grunewald, S. and Keir, G. and Young, L. and Langridge, J. and Mian, N. and Winchester, B. (2006) Diagnosis of congenital disorders of glycosylation type-I using protein chip technology. PROTEOMICS , 6 (7) pp. 2295-2304. 10.1002/pmic.200500682.

Mills, PB and Struys, E and Jakobs, C and Plecko, B and Baxter, P and Baumgartner, M and Willemsen, MAAP and Omran, H and Tacke, U and Uhlenberg, B and Weschke, B and Clayton, PT (2006) Mutations in antiquitin in individuals with pyridoxine-dependent seizures. NAT MED , 12 (3) 307 - 309. 10.1038/nm1366.

Mohnike, K and Blankenstein, O and Christesen, HT and De Lonlay, J and Hussain, K and Koopmans, KP and Minn, H and Mohnike, W and Mutair, A and Otonkoski, T and Rahier, J (2006) Proposal for a standardized protocol for F-18-DOPA-PET (PET/CT) in congenital hyperinsulinism. HORM RES , 66 (1) 40 - 42. 10.1159/000093471.

Monk, D and Arnaud, P and Apostolidou, S and Hills, FA and Kelsey, G and Stanier, P and Feil, R and Moore, GE (2006) Limited evolutionary conservation of imprinting in the human placenta. P NATL ACAD SCI USA , 103 (17) 6623 - 6628. 10.1073/pnas.0511031103.

Monk, D and Arnaud, P and Apostolidou, S and Hills, FA and Kelsey, G and Stanier, P and Feil, R and Moore, GE (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.

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

Monk, D and Sanches, R and Arnaud, P and Apostolidou, S and Hills, FA and Abu-Amero, S and Murrell, A and Friess, H and Reik, W and Stanier, P and Constancia, M and Moore, GE (2006) Imprinting of IGF2 P0 transcript and novel alternatively spliced INS-IGF2 isoforms show differences between mouse and human. HUM MOL GENET , 15 (8) 1259 - 1269. 10.1093/hmg/ddl041.

Monk, D and Sanches, R and Arnaud, P and Apostolidou, S and Hills, FA and Abu-Amero, S and Murrell, A and Friess, H and Reik, W and Stanier, P and Constância, M and Moore, GE (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.

Monk, D. and Arnaud, P. and Apostolidou, S. and Hills, F.A. and Kelsey, G. and Stanier, P. and Feil, R. and Moore, G.E. (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 and Westaway, SK and Morton, JEV and Gregory, A and Gissen, P and Sonek, S and Cangul, H and Coryell, J and Canham, N and Nardocci, N and Zorzi, G and Pasha, S and Rodriguez, D and Desguerre, I and Mubaidin, A and Bertini, E and Trembath, RC and Simonati, A and Schanen, C and Johnson, CA and Levinson, B and Woods, CG and Wilmot, B and Kramer, P and Gitschier, J and Hayflick, SJ and Maher, ER (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

Morgan, NV and Westaway, SK and Morton, JEV and Gregory, A and Gissen, P and Sonek, S and Cangul, H and Coryell, J and Canham, N and Nardocci, N and Zorzi, G and Pasha, S and Rodriguez, D and Desguerre, I and Mubaidin, A and Bertini, E and Trembath, RC and Simonati, A and Schanen, C and Johnson, CA and Levinson, B and Woods, CG and Wilmot, B and Kramer, P and Gitschier, J and Maher, ER and Hayflick, SJ (2006) PLA2G6, encoding a phospholipase A(2), is mutated in neurodegenerative disorders with high brain iron. NAT GENET , 38 (7) 752 - 754. 10.1038/ng1826.

O

Otonkoski, T and Nanto-Salonen, K and Seppanen, M and Veijola, R and Huopio, H and Hussain, K and Tapanainen, P and Eskola, I and Parkkola, R and Ekstrom, K and Guiot, Y and Rahier, J and Laakso, M and Rintala, R and Nuutila, P and Minn, H (2006) Noninvasive diagnosis of focal hyperinsulinism of infancy with [F-18]-DOPA positron emission tomography. DIABETES , 55 (1) 13 - 18.

P

Pagarkar, W and Bitner-Glindzicz, M and Knight, J and 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. and Taanman, J.-W. and Wilson, C.J. and Anderson, N.E. and Marotta, R. and Duncan, A.J. and Bitner- Glindzicz, M. and Taylor, R.W. and Laskowski, A. and Thorburn, D.R. and Rahman, S. (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 and Hargreaves, IP and Duncan, AJ and Taanman, JW and Heales, SJ and Land, JM and Bitner-Glindzicz, M and Leonard, JV and Rahman, S (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.

Pagnamenta, AT and Taanman, JW and Wilson, CJ and Anderson, NE and Marotta, R and Duncan, AJ and Bitner-Glindzicz, M and Taylor, RW and Laskowski, A and Thorburn, DR and Rahman, S (2006) Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma. HUM REPROD , 21 (10) 2467 - 2473. 10.1093/humrep/del076.

Pérez-Miranda, AM and Alfonso-Sánchez, MA and Herrera, RJ (2006) Microsatellite polymorphisms in two Taiwanese aboriginal groups. International Congress Series , 1288 394 - 396.

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

Pena, JA and Garcia-Obregon, S and Perez-Miranda, AM and De Pancorbo, MM and 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 and García-Obregón, S and Alfonso-Sánchez, MA and Vidales, C and Arroyo, D and 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 and Alfonso-Sanchez, MA and Pena, JA and Herrera, RJ (2006) Qatari DNA variation at a crossroad of human migrations. HUM HERED , 61 (2) 67 - 79. 10.1159/000092648.

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

Pierre, G and Gissen, P and Chakrapani, A and McDonald, A and Preece, M and 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 and Milton, R and Clark, JB and 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 and Moore, AT and Moore, AT and Palmer, R and Ekong, R and Spandoni, E and 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

Sajed, E and Gaston-Massuet, C and Signore, M and Dattani, M and Martinez-Barbera, JP (2006) Role of the homeobox gene Hesx1/HESX1 in forebrain and pituitary formation in mouse and humans. In: GENETICAL RESEARCH. (pp. 72 - 73). CAMBRIDGE UNIV PRESS

Salgin, B and Amin, R and Yuen, K and Williams, RM and Murgatroyd, P and Dunger, DB (2006) Insulin resistance is an intrinsic defect independent of fat mass in women with Turner's syndrome. Horm Res , 65 (2) 69 - 75. 10.1159/000090907.

Salomons, GS and Darmin, PS and Struys, EA and Verhoeven, NM and Abdenur, J and Sansaricq, C and Meli, C and Hobson, E and Pronicka, E and Dodelson de Kremer, R and Gissen, P and Gaba, C and van der Knaap, MS and Jakobs, C (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.

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This list was generated on Tue May 21 13:00:27 2013 BST.