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Number of items: 110.
A
| Abeyagunawardena, AS and Hindmarsh, P and Trompeter, RS (2007) Adrenocortical suppression increases the risk of relapse in nephrotic syndrome. Arch.Dis.Child , 92 (7) 585 - 589. |
| Abu-Amero, S and Apostilidou, S and O Donaghue, K and Frost, J and Olafsdottir, O and Chavel, K and Whittaker, J and Loughna, P and Stanier, P and Moore, GE (2007) Elevated maternal expression of the imprinted PHLDA2 gene is associated with low birth weight. In: Genetical Research. (pp. 3 - 3). |
| Abu-Amero, S and Apostolidou, S and O'Donaghue, K and Frost, J and Olafsdottir, O and Chavele, K and Whittaker, J and Loughna, P and Stanier, P and Moore, G (2007) Elevated maternal expression of the imprinted PHLDA2 gene is associated with low birth weight. In: GENETICAL RESEARCH. (pp. 183 - 183). CAMBRIDGE UNIV PRESS |
| Ahmad, I and Paterson, WF and Lin, L and Adlard, P and Duncan, P and Tolmie, J and Achermann, JC and Donaldson, MDC (2007) A novel missense mutation in DAX-1 with an unusual presentation of X-linked adrenal hypoplasia congenita. HORM RES , 68 (1) 32 - 37. 10.1159/000099835. |
| Ali, A and Christie, PT and Grigorieva, IV and Harding, B and Van Esch, H and Ahmed, SF and Bitner-Glindzicz, M and Blind, E and Bloch, C and Christin, P and Clayton, P and Gecz, J and Gilbert-Dussardier, B and Guillen-Navarro, E and Hackett, A and Halac, I and Hendy, GN and Lalloo, F and Mache, CJ and Mughal, Z and Ong, ACM and Rinat, C and Shaw, N and Smithson, SF and Tolmie, J and Weill, J and Nesbit, MA and Thakker, RV (2007) Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor. HUM MOL GENET , 16 (3) 265 - 275. 10.1093/hmg/ddl454. |
| Andoniadou, CL and Signore, M and Sajedi, E and Gaston-Massuet, C and Kelberman, D and Burns, AJ and Itasaki, N and Dattani, M and Martinez-Barbera, JP (2007) Lack of the murine homeobox gene Hesx1 leads to a posterior transformation of the anterior forebrain. DEVELOPMENT , 134 (8) 1499 - 1508. 10.1242/dev.02829. |  |
| Andreou, AM and Pauws, E and Jones, MC and Singh, MK and Bussen, M and Doudney, K and Moore, GE and Kispert, A and Brosens, JJ and Stanier, P (2007) TBX22 missense mutations found in patients with x-linked cleft palate affect DNA binding, sumoylation, and transcriptional repression. AM J HUM GENET , 81 (4) 700 - 712. 10.1086/521033. |
| Apostolidou, S and Abu-Amero, S and O'Donoghue, K and Frost, J and Olafsdottir, O and Chavele, KM and Whittaker, JC and Loughna, P and Stanier, P and Moore, GF (2007) Elevated placental expression of the imprinted PHLDA2 gene is associated with low birth weight. J MOL MED-JMM , 85 (4) 379 - 387. 10.1007/s00109-006-0131-8. |
| Ates, K and Yang, SY and Orrell, RW and Sinanan, ACM and Simons, P and Solomon, A and Beech, S and Goldspink, G and Lewis, MP (2007) The IGF-I splice variant MGF increases progenitor cells in ALS, dystrophic, and normal muscle. FEBS LETT , 581 (14) 2727 - 2732. 10.1016/j.febslet.2007.05.030. |
| Auray-Blais, C and Cyr, D and Mills, K and Giguere, R and Drouin, R (2007) Development of a filter paper method potentially applicable to mass and high-risk urinary screenings for Fabry disease. J INHERIT METAB DIS , 30 (1) 106 - 106. 10.1007/s10545-006-0444-3. |
B
| Barcelo-Coblijn, G and Murphy, EJ and Mills, K and Winchester, B and Jakobs, C and Snead, OC and Gibson, KM (2007) Lipid abnormalities in succinate semialdehyde dehydrogenase (Aldh5a1(-/-)) deficient mouse brain provide additional evidence for myelin alterations. BBA-MOL BASIS DIS , 1772 (5) 556 - 562. 10.1016/j.bbadis.2006.12.008. |
| Bitner-Glindzicz, M (2007) Genetics of Non-Syndromic Deafness. In: Graham, JM and Scadding, GK and Bull, PD, (eds.) Pediatric ENT. (47 - 54). Springer Verlag |
| Bitner-Glindzicz, M and Rahman, S (2007) Ototoxicity caused by aminoglycosides. BRIT MED J , 335 (7624) 784 - 785. 10.1136/bmj.39301.680266.AE. |
| Bitner-Glindzicz, M and Rutland, P and Pagarkar, W and Saunders, D (2007) Mutation in FGF3 causes absent inner ear development and microtia. In: JOURNAL OF MEDICAL GENETICS. (pp. S29 - S29). B M J PUBLISHING GROUP |
C
| Campeau, PM and Bernard, G and Clayton, PT (2007) Neurotransmitter diseases and related conditions. Mol.Genet.Metab , 92 (3) 189 - 197. |
| Christesen, HBT and Brusgaard, K and Alm, J and Sjöblad, S and Hussain, K and Fenger, C and Rasmussen, L and Hovendal, C and Otonkoski, T and Jacobsen, BB (2007) Rapid genetic analysis in congenital hyperinsulinism. Hormone Research , 67 (4) 184 - 188. |
| Clayton, PT (2007) Hereditary liver diseases: screening strategies. In: Blum, HE and Haussinger, D and Cox, DW and Jansen, PLM, (eds.) Genetics in Liver Diseases. (pp. 130 - 138). SPRINGER |
| Coelho, R and Wells, J and Symth, J and Semple, R and O'Rahilly, S and Eaton, S and Hussain, K (2007) Severe hypoinsulinaemic hypoglycaemia in a premature infant associated with poor weight gain and reduced adipose tissue. HORM RES , 68 (2) 91 - 98. 10.1159/000100974. |
| Cohen, M and Bitner-Glindzicz, M and Luxon, L (2007) The changing face of Usher syndrome: Clinical implications. INT J AUDIOL , 46 (2) 82 - 93. 10.1080/14992020600975279. |
| Cremers, FPM and Kimberling, WJ and Kulm, M and de Brouwer, AP and van Wijk, E and Brinke, HT and Cremers, CWRJ and Hoefsloot, LH and Banfi, S and Simonelli, F and Fleischhauer, JC and Berger, W and Kelley, PM and Haralambous, E and Bitner-Glindzicz, M and Webster, AR and Saihan, Z and De Baere, E and Leroy, BP and Silvestri, G and Mckay, GJ and Koenekoop, RK and Millan, JM and Rosenberg, T and Joensuu, T and Sankila, EM and Weil, D and Weston, MD and Wissinger, B and Kremer, H (2007) Development of a genotyping microarray for Usher syndrome. J MED GENET , 44 (2) 153 - 160. 10.1136/jmg.2006.044784. |
D
| Dixon, P and Chambers, J and Strautnieks, S and Thompson, RJ and Lammert, F and Kubitz, R and Glantz, AG and Mattsson, L-A and Moore, GE and Williamson, C (2007) Contribution of the variant p.V444A of ABCB11 (BSEP) to intrahepatic cholestasis of pregnancy. In: HEPATOLOGY. (pp. 265A - 265A). |
| Durai, R and Yang, SY and Sales, KM and Seifalian, AM and Goldspink, G and Winslet, MC (2007) Increased apoptosis and decreased proliferation of colorectal cancer cells using insulin-like growth factor binding protein-4 gene delivered locally by gene transfer. COLORECTAL DIS , 9 (7) 625 - 631. 10.1111/j.1463-1318.2006.01190.x. |
| Durai, R and Yang, SY and Sales, KM and Seifalian, AM and Goldspink, G and Winslet, MC (2007) Insulin-like growth factor binding protein-4 gene therapy increases apoptosis by altering Bcl-2 and Bax proteins and decreases angiogenesis in colorectal cancer. INT J ONCOL , 30 (4) 883 - 888. |
| Durai, R and Yang, SY and Seifalian, AM and Goldspink, G and Winslet, MC (2007) Role of insulin-like growth factor binding protein-4 in prevention of colon cancer. World J Surg Oncol , 5 128 - ?. 10.1186/1477-7819-5-128. |
E
| Ebermann, I and Lopez, I and Bitner-Glindzicz, M and Brown, C and Koenekoop, RK and Bolz, HJ (2007) Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population. GENOME BIOL , 8 (4) , Article R47. 10.1186/gb-2007-8-4-r47. |
F
| Farooqi, IS and Wangensteen, T and Collins, S and Kimber, W and Matarese, G and Keogh, JM and Lank, E and Bottomley, B and Lopez-Fernandez, J and Ferraz-Amaro, I and Dattani, MT and Ercan, O and Myhre, AG and Retterstol, L and Stanhope, R and Edge, JA and McKenzie, S and Lessan, N and Ghodsi, M and De Rosa, V and Perna, F and Fontana, S and Barroso, I and Undlien, DE and O'Rahilly, S (2007) Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor. New England Journal of Medicine , 356 (3) 237 - 247. |
| Farooqi, IS and Wangensteen, T and Collins, S and Kimber, W and Matarese, G and Keogh, JM and Lank, E and Bottomley, B and Lopez-Fernandez, J and Ferraz-Amaro, I and Dattani, MT and Ercan, O and Myhre, AG and Retterstol, L and Stanhope, R and Edge, JA and McKenzie, S and Lessan, N and Ghodsi, M and De Rosa, V and Perna, F and Fontana, S and Barroso, I and Undlien, DE and O'Rahilly, S (2007) Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor. NEW ENGL J MED , 356 (3) 237 - 247. |
| Ferraz-de-Souza, B and Achermann, JC (2007) Endocrinology of Hypospadias. Dialogues in Pediatric Urology , 28 (4) 6 - 8. |
| Ferraz-de-Souza, B and Lin, L and Woodruff, TK and Achermann, JC (2007) Reproductive endocrinology. In: Carel, JC and Hochberg, Z, (eds.) Yearbook of pediatric endocrinology 2007. (71 - 85). Karger: Basel. |
| Foulquier, F and Ungar, D and Reynders, E and Zeevaert, R and Mills, P and Garcia-Silva, MT and Briones, P and Winchester, B and Morelle, W and Krieger, M and Annaert, W and Matthijs, G (2007) A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation. HUM MOL GENET , 16 (7) 717 - 730. 10.1093/hmg/ddl476. |
| Foxton, RH and Land, JM and Heales, SJR (2007) Tetrahydrobiopterin availability in Parkinson's and Alzheimer's disease; Potential pathogenic mechanisms. NEUROCHEM RES , 32 (4-5) 751 - 756. 10.1007/s11064-006-9201-0. |
| Fry, VA and Heales, SJ and Pocock, JM (2007) The highs and lows of microglial glutathione. In: (Proceedings) Society for Neuroscience Annual Meeting. (pp. 804.19 - ?). Society for Neuroscience |
G
| Garcia-Obregon, S and Alfonso-Sanchez, MA and Perez-Miranda, AM and de Pancorbo, MM and Pena, JA (2007) Polymorphic Alu insertions and the genetic structure of Iberian Basques. J HUM GENET , 52 (4) 317 - 327. 10.1007/s10038-007-0114-9. |
| Gissen, P and Maher, ER (2007) Cargos and genes: insights into vesicular transport from inherited human disease. J MED GENET , 44 (9) , Article 545. 10.1136/jmg.2007.050294. |
H
| Hargreaves, IP and Duncan, AJ and Wu, L and Agrawal, A and Land, JM and Heales, SJ (2007) Inhibition of mitochondrial complex IV leads to secondary loss complex II-III activity: implications for the pathogenesis and treatment of mitochondrial encephalomyopathies. Mitochondrion , 7 (4) 284 - 287. 10.1016/j.mito.2007.02.001. |
| Hargreaves, IP and Duncan, AJ and Wu, L and Agrawal, A and Land, JM and Heales, SJR (2007) Inhibition of mitochondrial complex IV leads to secondary loss complex II-III activity: Implications for the pathogenesis and treatment of mitochondrial encephalomyopathies. MITOCHONDRION , 7 (4) 284 - 287. 10.1016/j.mito.2007.02.001. |
| Henriksen, N and Brusgaard, K and Fenger, C and Hussain, K and Tan, QH and Jacobsen, BB and Christensen, HT (2007) RNA from formalin-fixed, paraffin-embedded pancreatic tissue (FFPE) for use in gene-expression microarray. APMIS , 115 (3) 268 - 269. |
| Hill, NR and Hindmarsh, PC and Stevens, RJ and Stratton, IM and Levy, JC and Matthews, DR (2007) A method for assessing quality of control from glucose profiles. DIABETIC MED , 24 (7) 753 - 758. 10.1111/j.1464-5491.2007.02119.x. |
| Hindmarsh, PC and Rodeck, CH and Humphries, SE (2007) Polymorphisms in the angiotensin converting enzyme gene and growth in the first year of life. Ann.Hum.Genet. , 71 (Pt 2) 176 - 184. |
| Hindmarsh, PC and Rodeck, CH and Humphries, SE (2007) Polymorphisms in the angiotensin converting enzyme gene and growth in the first year of life. ANN HUM GENET , 71 176 - 184. 10.1111/j.1469-1809.2006.00317.x. |
| Hindmarsh, PL and Laimins, LA (2007) Mechanisms regulating expression of the HPV 31 L1 and L2 capsid proteins and pseudovirion entry. Virol.J. , 4 19 - ?. |
| Hoffmann, GF and Schmitt, B and Windfuhr, M and Wagner, N and Strehl, H and Bagci, S and Franz, AR and Mills, PB and Clayton, PT and Baumgartner, MR and Steinmann, B and Bast, T and Wolf, NI and Zschocke, J (2007) Pyridoxal 5 '-phosphate may be curative in early-onset epileptic encephalopathy. J INHERIT METAB DIS , 30 (1) 96 - 99. 10.1007/s10545-006-0508-4. |
| Holden, S and Sawyer, NK and Gilmore, J and Bunyan, D and Dattani, M and Collin, JRO and Davies, AF and Ragge, N (2007) Del(14)(q22q23) associated with anophthalmia, craniofacial abnormalities and brain malformations; case report and molecular cytogenetic analysis of an emerging contiguous gene syndrome. In: JOURNAL OF MEDICAL GENETICS. (pp. S69 - S69). B M J PUBLISHING GROUP |
| Hussain, K (2007) Insights in congenital hyperinsulinism. Endocr Dev , 11 106 - 121. 10.1159/0000111066. |
| Hussain, K and Blankenstein, O and De Lonlay, P and Christesen, HT (2007) Hyperinsulinaemic hypoglycaemia: biochemical basis and the importance of maintaining normoglycaemia during management. ARCH DIS CHILD , 92 (7) 568 - 570. |
I
| Iglesias-Platas, I and Monk, D and Jebbink, J and Buimer, M and Boer, K and van der post, J and Hills, F and Apostolidou, S and Ris Stalpers, C and Stanier, P and Moore, GE (2007) STOX1 is not imprinted and the missense variants are unlikely to be involved in severe early onset non-familial preeclampsia. Nature Genetics , 39 (3) 279 - 280. 10.1038/ng0307-279. |
| Iglesias-Platas, I and Monk, D and Jebbink, J and Buimer, M and Boer, K and van der Post, J and Hills, F and Apostolidou, S and Ris-Stalpers, C and Stanier, P and Moore, GE (2007) STOX1 is not imprinted and is not likely to be involved in preeclampsia. NAT GENET , 39 (3) 279 - 280. |
| Iglesias-Platas, I. and Monk, D. and Jebbink, J. and Hills, F. and Apostolidou, S. and Ris-Stalpers, C. and Stanier, P. and Moore, G.E. and Buimer, M. and Boer, K. and Van der Post, J. (2007) STOX1 is not imprinted and is not likely to be involved in preeclampsia. Nature Genetics , 39 (3) pp. 279-280. 10.1038/ng0307-279. |
J
| Jenkins, D and Bitner-Glindzicz, M and Thomasson, L and Malcolm, S and Warne, SA and Feather, SA and Flanagan, SE and Ellard, S and Bingham, C and Santos, L and Henkemeyer, M and Zinn, A and Baker, LA and Wilcox, DT and Woolf, AS (2007) Mutational analyses of UPIIIA, SHH, EFNB2 and HNF1beta in persistent cloaca and associated kidney malformations. J Pediatr Urol , 3 (1) 2 - 9. 10.1016/j.jpurol.2006.03.002. |
| Jindal, P and Regan, L and Fourkala, EO and Rai, R and Moore, G and Goldin, RD and Sebire, NJ (2007) Placental pathology of recurrent spontaneous abortion: the role of histopathological examination of products of conception in routine clinical practice: a mini review. Hum Reprod , 22 (2) 313 - 316. 10.1093/humrep/del128. |
K
| Kelberman, D and Dattani, MT (2007) Genetics of septo-optic dysplasia. Pituitary , 10 (4) 393 - 407. |
| Kelberman, D and Dattani, MT (2007) Genetics of septo-optic dysplasia. PITUITARY , 10 (4) 393 - 407. 10.1007/s11102-007-0055-5. |
| Kelberman, D and Dattani, MT (2007) Hypopituitarism oddities: Congenital causes. HORMONE RESEARCH , 68 138 - 144. 10.1159/000110610. |
| Kelberman, D and Dattani, MT (2007) Hypothalamic and pituitary development: Novel insights into the aetiology. European Journal of Endocrinology , 157 (SUPPL. 1) S3 - S14. |
| Kelberman, D and Dattani, MT (2007) Hypothalamic and pituitary development: novel insights into the aetiology. Eur J Endocrinol , 157 Suppl 1 S3 - 14. 10.1530/EJE-07-0156. |
| Kim, HT and Edwards, MJ and Tyson, J and Quinn, NP and Bitner-Glindzicz, M and Bhatia, KP (2007) Blepharospasm and limb dystonia caused by Mohr-Tranebjaerg syndrome with a novel splice-site mutation in the deafness/dystonia peptide gene. MOVEMENT DISORD , 22 (9) 1328 - 1331. 10.1002/mds.21351. |
| Kochar, IS and Hussain, K (2007) From hyperinsulinaemic hypoglycaemia to ketotic hypoglycaemia: the range of glucose abnormalities in patients born with intrauterine growth retardation. EUR J PEDIATR , 166 (10) 1003 - 1007. 10.1007/s00431-006-0371-1. |
L
| Lam, AAJ and Heales, SJR (2007) Nitric oxide accelerates the degradation of tetrahydrobiopterin but not total neopterin in cerebrospinal fluid; potential implications for the assessment of tetrahydrobiopterin metabolism. ANN CLIN BIOCHEM , 44 394 - 396. |
| Lam, AAJ and Hyland, K and Heales, SJR (2007) Tetrahydrobiopterin availability, nitric oxide metabolism and glutathione status in the hph-1 mouse; implications for the pathogenesis and treatment of tetrahydrobiopterin deficiency states. J INHERIT METAB DIS , 30 (2) 256 - 262. 10.1007/s10545-006-0502-x. |
| Lambrianides, A and Carroll, CJ and Pericleous, C and Heywood, W and Mills, K and Latchman, DS and Isenberg, DA and Pierangeli, SS and Townsend, PA and Rahman, A and Giles, IP (2007) Purified IgG from patients with different clinical manifestations of the antiphospholipid syndrome have differential effects upon the NF-kappa B and p38MAPK signalling pathways in monocytes. In: RHEUMATOLOGY. (pp. I79 - I79). OXFORD UNIV PRESS |
| Land, JM and Hargreaves, IP and Oppenheim, M and Pope, S and Heales, SJR (2007) Inherited mitochondrial disease, pathogenesis and therapeutic approaches. In: JOURNAL OF NEUROCHEMISTRY. (pp. 14 - 14). BLACKWELL PUBLISHING |
| Land, JM and Heales, SJR and Duncan, AJ and Hargreaves, IP (2007) Some observations upon biochemical causes of ataxia and a new disease entity ubiquinone, CoQ(10) deficiency. NEUROCHEM RES , 32 (4-5) 837 - 843. 10.1007/s11064-006-9222-8. |
| Ledger, V and Mills, P and Mills, K and Young, E and Winchester, B (2007) Comparison of the natural substrate specificity and glycosylation of the two commercial preparations of alpha-galactosidase A. ACTA PAEDIATR , 96 99 - 99. |
| Lin, L and Ercan, O and Raza, J and Burren, CP and Creighton, SM and Auchus, RJ and Dattani, MT and Achermann, JC (2007) Variable phenotypes associated with aromatase (CYP19) insufficiency in humans. J CLIN ENDOCR METAB , 92 (3) 982 - 990. 10.1210/jc.2006-1181. |
| Lin, L and Ferraz-de-Souza, B and Achermann, JC (2007) Genetic disorders involving adrenal development. CONGENITAL ENDOCRINOPATHIES , 11 36 - 46. |
| Lin, L and Hindmarsh, PC and Metherell, LA and Alzyoud, M and Al-Ali, M and Brain, CE and Clark, AJL and Dattani, MT and Achermann, JC (2007) Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia. CLIN ENDOCRINOL , 66 (2) 205 - 210. 10.1111/j.1365-2265.2006.02709.x. |
| Lin, L and Philibert, P and Ferraz-de-Souza, B and Kelberman, D and Homfray, T and Albanese, A and Molini, V and Sebire, NJ and Einaudi, S and Conway, GS and Hughes, IA and Jameson, JL and Sultan, C and Dattani, MT and Achermann, JC (2007) Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function. J CLIN ENDOCR METAB , 92 (3) 991 - 999. 10.1210/jc.2006-1672. |
| Loupatty, F.J. and Clayton, P.T. and Ruiter, J.P.N. and Ofman, R. and Ijlst, L. and Brown, G.K. and Thorburn, D.R. and Harris, R.A. and Duran, M. and De Sousa, C. and Krywawych, S. and Heales, S.J.R. and Wanders, R.J.A. (2007) Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration. The American Journal of Human Genetics , 80 (1) pp. 195-199. 10.1086/510725. |
| Loupatty, FJ and Clayton, PT and Ruiter, JPN and Ofman, R and Ijlst, L and Brown, GK and Thorburn, DR and Harris, RA and Duran, M and DeSousa, C and Krywawych, S and Heales, SJR and Wanders, RJA (2007) Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration. AM J HUM GENET , 80 (1) 195 - 199. |
M
| Male, A and Bitner-Glindzicz, M and Short, J and Sebire, N and Magee, A and Harper, J and Hennekam, R (2007) A leap in the LEOPARD phenotype? In: JOURNAL OF MEDICAL GENETICS. (pp. S70 - S70). B M J PUBLISHING GROUP |
| Man, YKS and Trolove, C and Tattersall, D and Thomas, AC and Papakonstantinopoulou, A and Patel, D and Scott, C and Chong, J and Jagger, DJ and O'Toole, EA and Navsaria, H and Curtis, MA and Kelsell, DP (2007) A deafness-associated mutant human connexin 26 improves the epithelial barrier In vitro. J MEMBRANE BIOL , 218 (1-3) 29 - 37. 10.1007/s00232-007-9025-0. |
| McClelland, VM and Gissen, P and Hendriksz, C and Chakrapani, A (2007) Glutaryl-CoA dehydrogenase deficiency. Pediatr Res , 61 (1) 134 - ?. 10.1203/01.pdr.0b013e31802d9ab4. |
| McClelland, VM and Gissen, P and Hendriksz, C and Chakrapani, A (2007) Untitled. PEDIATR RES , 61 (1) 134 - 134. 10.1203/PDR.0b013e31802d969c. |
| Mcnay, DEG and Turton, JP and Kelberman, D and Woods, KS and Brauner, R and Papadimitriou, A and Keller, E and Keller, A and Haufs, N and Krude, H and Shalet, SM and Dattani, MT (2007) HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism. J CLIN ENDOCR METAB , 92 (2) 691 - 697. 10.1210/jc.2006-1609. |
| Minton, JAL and Van De Bunt, M and Boustred, C and Hussain, K and Hattersley, AT and Ellard, S and Gloyn, AL (2007) Mutations in HHEX are not a common cause of monogenic forms of beta cell dysfunction [1]. Diabetologia , 50 (9) 2019 - 2022. |
| Mundy, HR and Mills, PB and Surtees, RAH and Mills, KA and Baxter, P and Craigen, W and Pearlman, E and Feillet, F and Struys, E and Jakobs, C and Zuberi, Z and Clayton, PT (2007) The phenotypic spectrum of pyridoxine-dependent epilepsy (PDE) due to antiquitin deficiency. J INHERIT METAB DIS , 30 132 - 132. |
| Muzyamba, M and Farzaneh, T and Behe, P and Thomas, A and Christesen, HBT and Brusgaard, K and Hussain, K and Tinker, A (2007) Complex ABCC8 DNA variations in congenital hyperinsulinism: lessons from functional studies. CLIN ENDOCRINOL , 67 (1) 115 - 124. 10.1111/j.1365-2265.2007.02847.x. |
O
| Oppenheim, MLS and Clayton, PT and Hyland, K and Heales, SJR (2007) Age related reference intervals for CSF pyridoxal phosphate. Potential utilisation for the diagnosis of PNPO deficiency. J INHERIT METAB DIS , 30 131 - 131. |
P
| Parker-Katiraee, L and Carson, AR and Yamada, T and Arnaud, P and Feil, R and Abu-Amero, SN and Moore, GE and Kaneda, M and Perry, GH and Stone, AC and Lee, C and Meguro-Horike, M and Sasaki, H and Kobayashi, K and Nakabayashi, K and Scherer, SW (2007) Identification of the imprinted KLF14 transcription factor undergoing human-specific accelerated evolution. PLOS Genetics , 3 (5) e65 . 10.1371/journal.pgen.0030065. | |
| Parker-Katiraee, L and Carson, AR and Yamada, T and Arnaud, P and Feil, R and Abu-Amero, SN and Moore, GE and Kaneda, M and Perry, GH and Stone, AC and Lee, C and Meguro-Horike, M and Sasaki, H and Kobayashi, K and Nakabayashi, K and Scherer, SW (2007) Identification of the imprinted KLF14 transcription factor undergoing human-specific accelerated evolution. PLOS GENET , 3 (5) , Article e65. 10.1371/journal.pgen.0030065. |
| Parker-Katiraee, L and Carson, AR and Yamada, T and Arnaud, P and Feil, R and Abu-Amero, SN and Moore, GE and Kaneda, M and Perry, GH and Stone, AC and Lee, C and Meguro-Horike, M and Sasaki, H and Kobayashi, K and Nakabayashi, K and Scherer, SW (2007) Identification of the imprinted KLF14 transcription factor undergoing human-specific accelerated evolution. PLoS Genetics , 3 (5) 665 - 678. |
| Pasterski, V and Hindmarsh, P and Geffner, M and Brook, C and Brain, C and Hines, M (2007) Increased aggression and activity level in 3- to 11-year-old girls with congenital adrenal hyperplasia (CAH). Horm.Behav. , 52 (3) 368 - 374. |
| Pauws, E and Andreou, A and Moore, G and Stanier, P (2007) Characterization and regulation of the human TBX22 promoter. In: GENETICAL RESEARCH. (pp. 186 - 186). CAMBRIDGE UNIV PRESS |
| PEREZ-MIRANDA, A and García-Obregón, S and Peña, JA and Alfonso-Sánchez, MA and de Pancorbo, MM (2007) Polymorphic Alu insertions and the genetic structure of Iberian Basques. Journal of Human Genetics , 52 (4) 317 - 327. |
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