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Number of items: 84.

A

Abeyagunawardena, AS; Hindmarsh, P; Trompeter, RS; (2007) Adrenocortical suppression increases the risk of relapse in nephrotic syndrome. Arch.Dis.Child , 92 (7) 585 - 589.

Abu-Amero, S; Apostilidou, S; O Donaghue, K; Frost, J; Olafsdottir, O; Chavel, K; ... Moore, GE; + view all (2007) Elevated maternal expression of the imprinted PHLDA2 gene is associated with low birth weight. In: Genetical Research. (pp. 3 - 3).

Ahmad, I; Paterson, WF; Lin, L; Adlard, P; Duncan, P; Tolmie, J; ... Donaldson, MDC; + view all (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; Christie, PT; Grigorieva, IV; Harding, B; Van Esch, H; Ahmed, SF; ... Thakker, RV; + view all (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; Signore, M; Sajedi, E; Gaston-Massuet, C; Kelberman, D; Burns, AJ; ... Martinez-Barbera, JP; + view all (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. Green and gold open access
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B

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; Rahman, S; (2007) Ototoxicity caused by aminoglycosides. BRIT MED J , 335 (7624) 784 - 785. 10.1136/bmj.39301.680266.AE.

Bitner-Glindzicz, M; Rutland, P; Pagarkar, W; 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; Bernard, G; Clayton, PT; (2007) Neurotransmitter diseases and related conditions. Mol.Genet.Metab , 92 (3) 189 - 197.

Christesen, HBT; Jacobsen, BB; Brusgaard, K; Fenger, C; Rasmussen, L; Hovendal, C; ... Otonkoski, T; + view all (2007) Rapid genetic analysis in congenital hyperinsulinism. Hormone Research , 67 (4) 184 - 188. 10.1159/000097063.

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; Wells, J; Symth, J; Semple, R; O'Rahilly, S; Eaton, S; 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; Bitner-Glindzicz, M; Luxon, L; (2007) The changing face of Usher syndrome: Clinical implications. INT J AUDIOL , 46 (2) 82 - 93. 10.1080/14992020600975279.

Cremers, FPM; Kimberling, WJ; Kulm, M; de Brouwer, AP; van Wijk, E; Brinke, HT; ... Kremer, H; + view all (2007) Development of a genotyping microarray for Usher syndrome. J MED GENET , 44 (2) 153 - 160. 10.1136/jmg.2006.044784.

D

Dattani, MT; Hindmarsh, PC; (2007) Normal and Abnormal Puberty. Clinical Pediatric Endocrinology: Fifth Edition 183 - 210. 10.1002/9780470987117.ch10.

Dixon, P; Chambers, J; Strautnieks, S; Thompson, RJ; Lammert, F; Kubitz, R; ... Williamson, C; + view all (2007) Contribution of the variant p.V444A of ABCB11 (BSEP) to intrahepatic cholestasis of pregnancy. In: HEPATOLOGY. (pp. 265A - 265A).

E

Ebermann, I; Lopez, I; Bitner-Glindzicz, M; Brown, C; Koenekoop, RK; 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

Ferraz-de-Souza, B; Achermann, JC; (2007) Endocrinology of Hypospadias. Dialogues in Pediatric Urology , 28 (4) 6 - 8.

Ferraz-de-Souza, B; Lin, L; Woodruff, TK; Achermann, JC; (2007) Reproductive endocrinology. In: Carel, JC and Hochberg, Z, (eds.) Yearbook of pediatric endocrinology 2007. (71 - 85). Karger: Basel.

Fry, VA; Heales, SJ; 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; Alfonso-Sanchez, MA; Perez-Miranda, AM; de Pancorbo, MM; 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; 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; Duncan, AJ; Wu, L; Agrawal, A; Land, JM; 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.

Henriksen, N; Brusgaard, K; Fenger, C; Hussain, K; Tan, QH; Jacobsen, BB; 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; Hindmarsh, PC; Stevens, RJ; Stratton, IM; Levy, JC; 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; Rodeck, CH; 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; Rodeck, CH; 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; Laimins, LA; (2007) Mechanisms regulating expression of the HPV 31 L1 and L2 capsid proteins and pseudovirion entry. Virol.J. , 4 19 - ?.

Holden, S; Sawyer, NK; Gilmore, J; Bunyan, D; Dattani, M; Collin, JRO; ... Ragge, N; + view all (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; Dunne, MJ; (2007) Hypoglycemia. Clinical Pediatric Endocrinology: Fifth Edition 474 - 491. 10.1002/9780470987117.ch22.

I

Iglesias-Platas, I; Monk, D; Jebbink, J; Buimer, M; Boer, K; van der post, J; ... Moore, GE; + view all (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.; Monk, D.; Jebbink, J.; Hills, F.; Apostolidou, S.; Ris-Stalpers, C.; ... Van der Post, J.; + view all (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; Bitner-Glindzicz, M; Thomasson, L; Malcolm, S; Warne, SA; Feather, SA; ... Woolf, AS; + view all (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.

K

Kelberman, D; Dattani, MT; (2007) Genetics of septo-optic dysplasia. Pituitary , 10 (4) 393 - 407. 10.1007/s11102-007-0055-5.

Kelberman, D; Dattani, MT; (2007) Genetics of septo-optic dysplasia. PITUITARY , 10 (4) 393 - 407. 10.1007/s11102-007-0055-5.

Kelberman, D; Dattani, MT; (2007) Hypopituitarism oddities: Congenital causes. HORMONE RESEARCH , 68 138 - 144. 10.1159/000110610.

Kelberman, D; Dattani, MT; (2007) Hypothalamic and pituitary development: Novel insights into the aetiology. European Journal of Endocrinology , 157 (SUPPL. 1) 10.1530/EJE-07-0156.

Kelberman, D; 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; Edwards, MJ; Tyson, J; Quinn, NP; Bitner-Glindzicz, M; 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; 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; 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; Hyland, K; 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; Carroll, CJ; Pericleous, C; Heywood, W; Mills, K; Latchman, DS; ... Giles, IP; + view all (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; Hargreaves, IP; Oppenheim, M; Pope, S; Heales, SJR; (2007) Inherited mitochondrial disease, pathogenesis and therapeutic approaches. In: JOURNAL OF NEUROCHEMISTRY. (pp. 14 - 14). BLACKWELL PUBLISHING

Land, JM; Heales, SJR; Duncan, AJ; 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; Mills, P; Mills, K; Young, E; 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; Ercan, O; Raza, J; Burren, CP; Creighton, SM; Auchus, RJ; ... Achermann, JC; + view all (2007) Variable phenotypes associated with aromatase (CYP19) insufficiency in humans. J CLIN ENDOCR METAB , 92 (3) 982 - 990. 10.1210/jc.2006-1181. Gold open access

Lin, L; Ferraz-de-Souza, B; Achermann, JC; (2007) Genetic disorders involving adrenal development. CONGENITAL ENDOCRINOPATHIES , 11 36 - 46.

Loupatty, F.J.; Clayton, P.T.; Ruiter, J.P.N.; Ofman, R.; Ijlst, L.; Brown, G.K.; ... Wanders, R.J.A.; + view all (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; Clayton, PT; Ruiter, JPN; Ofman, R; Ijlst, L; Brown, GK; ... Wanders, RJA; + view all (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; Bitner-Glindzicz, M; Short, J; Sebire, N; Magee, A; Harper, J; Hennekam, R; (2007) A leap in the LEOPARD phenotype? In: JOURNAL OF MEDICAL GENETICS. (pp. S70 - S70). B M J PUBLISHING GROUP

Man, YKS; Trolove, C; Tattersall, D; Thomas, AC; Papakonstantinopoulou, A; Patel, D; ... Kelsell, DP; + view all (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; Gissen, P; Hendriksz, C; Chakrapani, A; (2007) Glutaryl-CoA dehydrogenase deficiency. Pediatr Res , 61 (1) 134 - ?. 10.1203/01.pdr.0b013e31802d9ab4.

McClelland, VM; Gissen, P; Hendriksz, C; Chakrapani, A; (2007) Untitled. PEDIATR RES , 61 (1) 134 - 134. 10.1203/PDR.0b013e31802d969c.

Mehta, A; Dattani, MT; (2007) Congenital Disorders of the Hypothalamic-Pituitary Axis. Clinical Pediatric Endocrinology: Fifth Edition 67 - 89. 10.1002/9780470987117.ch4.

Minton, JAL; Boustred, C; Hattersley, AT; Ellard, S; Van De Bunt, M; Gloyn, AL; Hussain, K; (2007) Mutations in HHEX are not a common cause of monogenic forms of beta cell dysfunction [1]. Diabetologia , 50 (9) 2019 - 2022. 10.1007/s00125-007-0748-3.

Mundy, HR; Mills, PB; Surtees, RAH; Mills, KA; Baxter, P; Craigen, W; ... Clayton, PT; + view all (2007) The phenotypic spectrum of pyridoxine-dependent epilepsy (PDE) due to antiquitin deficiency. J INHERIT METAB DIS , 30 132 - 132.

Muzyamba, M; Farzaneh, T; Behe, P; Thomas, A; Christesen, HBT; Brusgaard, K; ... Tinker, A; + view all (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; Clayton, PT; Hyland, K; 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; Carson, AR; Yamada, T; Meguro-Horike, M; Nakabayashi, K; Scherer, SW; ... Kobayashi, K; + view all (2007) Identification of the imprinted KLF14 transcription factor undergoing human-specific accelerated evolution. PLoS Genetics , 3 (5) 665 - 678. 10.1371/journal.pgen.0030065. Gold open access

Pasterski, V; Hindmarsh, P; Geffner, M; Brook, C; Brain, C; 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; Andreou, A; Moore, G; Stanier, P; (2007) Characterization and regulation of the human TBX22 promoter. In: GENETICAL RESEARCH. (pp. 186 - 186). CAMBRIDGE UNIV PRESS

PEREZ-MIRANDA, A; García-Obregón, S; Peña, JA; Alfonso-Sánchez, MA; de Pancorbo, MM; (2007) Polymorphic Alu insertions and the genetic structure of Iberian Basques. Journal of Human Genetics , 52 (4) 317 - 327.

Pervanidou, P; Kolaitis, G; Charitaki, S; Lazaropoulou, C; Papassotiriou, I; Hindmarsh, P; ... Chrousos, GP; + view all (2007) The natural history of neuroendocrine changes in pediatric posttraumatic stress disorder (PTSD) after motor vehicle accidents: progressive divergence of noradrenaline and cortisol concentrations over time. Biol.Psychiatry , 62 (10) 1095 - 1102.

Peters, CJ; Hindmarsh, PC; (2007) Management of neonatal endocrinopathies - Best practice guidelines. EARLY HUM DEV , 83 (9) 553 - 561. 10.1016/j.earthumdev.2007.05.001.

Peters, CJ; Hindmarsh, PC; (2007) Management of neonatal endocrinopathies--best practice guidelines. Early Hum Dev , 83 (9) 553 - 561. 10.1016/j.earlhumdev.2007.05.001.

Pocock, JM; Pinteaux-Jones, F; Fry, VA; Baker, D; Heales, SJ; (2007) Metabotropic glutamate receptors on microglia: Switching off toxicity. In: JOURNAL OF NEUROCHEMISTRY. (pp. 239 - 239). BLACKWELL PUBLISHING

Pope, SAS; Chalasani, A; Lyrics, GW; Hargreaves, IP; Oppenheim, MLS; Hanna, MG; ... Heales, SJR; + view all (2007) Mitochondrial dysfunction in association with cardiolipin deficiency. J INHERIT METAB DIS , 30 70 - 70.

R

Rahman, S; Hargreaves, IP; (2007) Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE. Neurology , 68 (21) 1872 - ?. 10.1212/01.wnl.0000265356.98295.be.

Raz, B; Janner, M; Petkovic, V; Lochmatter, D; Eble, A; Dattani, MT; ... Mullis, PE; + view all (2007) Influence of growth hormone receptor d3 and full-length isoforms on growth hormone response and final height in patients with severe growth hormone deficiency. J.Clin.Endocrinol.Metab

Reardon, E; Nanduri, V; Malone, M; Saunders, D; Gaze, M; Dattani, M; ... Brock, P; + view all (2007) Two cases of hypothalamic syndrome, suprasellar mass lesion and multi-system LCH. One with life-threatening cns juvenile xanthogranuloma with response to cladrabine. PEDIATR BLOOD CANCER , 48 (7) 759 - 759.

Richardson, CC; Hussain, K; Jones, PM; Persaud, S; Lobner, K; Boehm, A; ... Christie, MR; + view all (2007) Low levels of glucose transporters and K-ATP(+) channels in human pancreatic beta cells early in development. DIABETOLOGIA , 50 (5) 1000 - 1005. 10.1007/s00125-007-0644-x.

S

Salomons, GS; Bok, LA; Struys, EA; Landegge, PL; Darmin, PS; Mills, PB; ... Jakobs, C; + view all (2007) Dutch cohort with alpha-aminoadipic semialdehyde dehydrogenase deficiency (pyridoxine dependent epilepsy): A founder effect and an intriguing 'silent' mutation in antiquitin (ALDH7A1). J INHERIT METAB DIS , 30 132 - 132.

Salomons, GS; Bok, LA; Struys, EA; Pope, LL; Darmin, PS; Mills, PB; ... Jakobs, C; + view all (2007) An intriguing "Silent" mutation and a founder effect in antiquitin (ALDH7A1). ANN NEUROL , 62 (4) 414 - 418. 10.1002/ana.21206.

Shelley, P; Heales, SJ; Clark, JB; Jensen, RI; Poston, L; Taylor, PD; McConnell, JM; (2007) A ubiquinone rich maternal diet (PUFA) leads to raised content of this beneficial lipid in adult offspring heart. EARLY HUMAN DEVELOPMENT , 83 S154 - S154. 10.1016/S0378-3782(07)70422-X.

Shelley, P; Tarry-Adkins, J; Martin-Gronert, M; Poston, L; Heales, S; Clark, J; ... McConnell, J; + view all (2007) Rapid neonatal weight gain in rats results in a renal ubiquinone (CoQ) deficiency associated with premature death. Mechanisms of Ageing and Development , 128 (11-12) 681 - 687. 10.1016/j.mad.2007.10.002.

T

Taha, D; Khider, A; Cullinane, AR; Gissen, P; (2007) A novel VPS33B mutation in an ARC syndrome patient presenting with osteopenia and fractures at birth. AM J MED GENET A , 143A (23) 2835 - 2837. 10.1002/ajmg.a.32051.

Tiss, A; Smith, C; Camuzeaux, S; Kabir, M; Gayther, S; Menon, U; ... Cramer, R; + view all (2007) Serum peptide profiling using MALDI mass spectrometry: avoiding the pitfalls of coated magnetic beads using well-established ZipTip technology. Proteomics , 7 Suppl 1 77 - 89. 10.1002/pmic.200700746.

Tuschl, K; Mills, PB; Parsons, H; Malone, M; Bitner-Glindzicz, M; Clayton, PT; (2007) Syndrome of liver cirrhosis, dystonia and hypermanganesaemia - a new metabolic disorder? In: J INHERIT METAB DIS. (pp. 142 - 142). SPRINGER

V

Vallette-Kasic, S; Couture, C; Balsalobre, A; Gauthier, Y; Metherell, L; Dattani, M; Drouin, J; (2007) The TPIT gene mutation M86R associated with isolated adrenocorticotropin deficiency interferes with protein: Protein interactions. J CLIN ENDOCR METAB , 92 (10) 3991 - 3999. 10.1210/jc.2007-0284.

Vilain, E; Achermann, JC; Eugster, EA; Harley, VR; Morel, Y; Wilson, JD; Hiort, O; (2007) We used to call them hermaphrodites. GENET MED , 9 (2) 65 - 66. 10.1097/GIM.0b013e31802cffcf.

W

Wolf, NI; Cundall, M; Rutland, P; Rosser, E; Surtees, R; Benton, S; ... Woodward, KJ; + view all (2007) Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination. NEUROGENETICS , 8 (1) 39 - 44. 10.1007/s10048-006-0062-0.

Wood, AJ; Roberts, RG; Monk, D; Moore, GE; Schulz, R; Oakey, RJ; (2007) A screen for retrotransposed imprinted genes reveals an association between X chromosome homology and maternal germ-line methylation. PLoS Genetics , 3 (2) , Article e20. 10.1371/journal.pgen.0030020. Green and gold open access
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