Publication Archives 2006

Mid-gestation mouse embryo

 

Human Genetics Unit: Staff Papers 2006

 

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  1. Alberici, P., Jagmohan-Changur, S., De Pater, E., Van, D., V, Smits, R., Hohenstein, P., Fodde, R. Smad4 haploinsufficiency in mouse models for intestinal cancer. Oncogene 25:1841-1851, 2006

  2. Alderton, G.A., Galbiati, L., Griffith, E., Surinya, K.H., Neitzel, H., Jackson, A.P., Jeggo, P.A., O'Driscoll, M. Regulation of mitotic entry by microphalin and its overlap with ATR signalling. Nature Cell Biology 8:725-733, 2006

  3. Ali, M., Highet, L.J., Lacombe, D., Goizet, C., King, M.D., Tacke, U., van der Knaap, M.S., Lagae, L., Rittey, C., Brunner, H.G., von Bokhoven, H., Hamel, B., Oade, Y.A., Sanchis, A., Desguerre, I., Cau, D., Mathieu, N., Moutard, M.L., Lebon, P., Kumar, D., Jackson, A.P., Crow, Y.J. A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21. J Med Genet 43:444-450, 2006

  4. Asayesh, A., Sharpe, J., Watson, R.P., Hecksher-Sorensen, J., Hastie, N.D., Hill, R.E., Ahlgren, U. Spleen versus pancreas: strict control of organ interrelationship revealed by analyses of Bapx1-/- mice. Genes & Development 20:2208-2213, 2006

  5. Barnetson, R.A., Tenesa, A., Farrington, S.M., Nicholl, I.D., Cetnarskyj, R., Porteous, M.E., Campbell, H., Dunlop, M.G. Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. New England Journal of Medicine 354:2751-2763, 2006

  6. Carninci, P.; Sandelin, A.; Lenhard, B.; Katayama, S.; Shimokawa, K.; Ponjavic, J.; Semple, CA., Taylor, MS.; Engstrom, P.G.; Frith, M.C.; Forrest, A.R.; Alkema, W.B.; Tan, S.L.; Plessy, C.; Kodzius, R.; Ravasi, T.; Kasukawa, T.; Fukuda, S.; Kanamori-Katayama, M.; Kitazume, Y.;, Kawaji. H.; Kai, C.; Nakamura, M.; Konno, H.; Nakano, K.; Mottagui-Tabar, S.; Arner, P.; Chesi, A.; Gustincich, S.; Persichetti, F.; Suzuki, H.; Grimmond, S.M.; Wells, C.A.; Orlando, V.; Wahlestedt, C.; Liu, E.T.; Harbers, M.; Kawai, J.; Bajic, V.B.; Hume, D.A. and Hayashizaki, Y. Genome-wide analysis of mammalian promoter architecture and evolution. Nat Genet 38(6):626-35, 2006

  7. Carothers, A.D.; Rudan I.; Kolcic, I.; Polasek,O.; Hayward, C.; Wright, A.F.; Campbell, H.; Teague, P.; Hastie, N.D. and Weber, J.L. Estimating Human Inbreeding Coefficients: Comparison of Genealogical and Marker Heterozygosity Approaches. Annals of Human Genetics 70:666-676, 2006

  8. Chakarova, C.F., Cherninkova, S., Tournev, I., Waseem, N., Kaneva, R., Jordanova, A., Veraitch, B.K., Gill, B., Colclough, T., Nakova, A., Oscar, A., Mihaylova, V., Nikolova-Hill, A., Wright, A.F., Black, G.C., Ramsden, S., Kremensky, I., Bhattacharya, S.S. Molecular genetics of retinitis pigmentosa in two Romani (Gypsy) families. Mol Vis. 12:909-914, 2006

  9. Christiansen, J.H. One ISH, two ISH, red ISH, blue ISH: choosing the right in situ hybridisation protocol. Development 133(24):4802-3, 2006

  10. Christiansen, J.H.; Yang, Y.; Venkataraman, S.; Richardson, L.; Stevenson, P.; Burton, N.; Baldock, R. and Davidson, D. EMAGE: a spatial database of gene expression patterns during mouse embryo development. Nucleic Acids Research 34:D637-D641, 2006

  11. Chubb, J.R.; Bloomfield, G.; Xu, Q.; Kaller, M.; Ivens, A.; Skelton, J.; Turner, B.M.; Nellen, W.; Shaulsky, G.; Kay, R.R.; Bickmore, W.A. and Singer, R.H. Developmental timing in Dictyostelium is regulated by the Set1 histone methyltransferase. Developmental Biology 292:519-532, 2006

  12. Collier, B. and Gray, N.K. Clevage, a real turn-off? HIV-mediated proteolysis of PABP1. Biochem J 396:e9-e11, 2006

  13. Costa, Y., Speed, R., Gautier, P., Semple, C.A., Maratou, K., Turner, J.M.A., Cooke, H.J. Mouse MAELSTROM: the link between meiotic silencing of unsynapsed chromatin and microRNA pathway? Human Molecular Genetics 15:2324-2334, 2006

  14. Cox, J., Jackson, A.P., Bond, J., Woods, C.G. What primary microcephaly can tell us about brain growth. Trends in Molecular Medicine 12:358-366, 2006

  15. Crow, Y.J.; Leitch, A.; Hayward,B.E.; Garner, A.; Parmar, R.; Griffith, E.; Ali, M.; Semple, C.; Aicardi, J.; Babul-Hirji, R.; Baumann, C.; Baxter, P.; Bertini, E.; Chandler, K.E.; Chitayat, D.; Cau, D.; Dery, C.; Fazzi, E.; Goizet, C.; King, M.D; Klepper, J.; Lacombe, D.; Lanzi, G.; Lyall, H.; Martinez-Frieas, M.L.; Mathieu, M; McKeown, C.; Monier, A.; Oade, Y.; Quarrell, O.W.; Rittey, C.D.; Rogers, R.C.; Sanchis, A.; Stephenson, J.B.; Tacke, U.; Till, M.; Tolmie, J.L.; Tomlin, P.; Voit, T.; Weschke, B.; Woods, C.G.; Lebon, P.; Bonthron, D.T.; Ponting, C.P.; and Jackson, A.P. Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection. Nat Genet. 38(8)910-916, 2006

  16. Crow, Y.J.; Hayward,B.E.; Parmar, R.; Robins, P.; Leitch, A.; Ali, A.; Black, D.N.; van Bokhoven, H.; Brunner, H.G.; Hamel, B.C.; Corry, P.C.; Cowan, F.M.; Frints, S.G.; Klepper, J.; Livingaton, J.H.; Lynch, S.A.; Massey, R.F.; Meritet, J.F.; Michaud, J.L.; Ponsot,G.; Voit, T.; Lebon, P.; Bonthron, D.T.; Jackson, A.P.; Barnes, D.E.; and Lindahl,T. Mutations in the gene encoding the 3' -5' DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus Nature Genetics 38(8):917-920, 2006

  17. Deary, I. J.; Hayward, C.; Permana, P. A.; Nair, S.; Whalley, L. J.; Starr, J. M.; Chapman, K. E.; Walker, B. R. and Seckl, J. R. Polymorphisms in the gene encoding 11B-hydroxysteroid dehydrogenase type 1 (HSD11B1) and lifetime cognitive change. Neuroscience Letters 393:74-77, 2006

  18. D'Elia, A.V., Puppin, C., Pellizzari, L., Pianta, A., Bregant, E., Lonigro, R., Tell, G., Fogolari, F., van Heyningen, V., Damante, G. Molecular analysis of a human PAX6 homeobox mutant. Eur J Hum Genet 14:744-751, 2006

  19. Deutsch, E.W.; Ball, C.A.; Bova, G.S.; Brazma, A.; Bumgarner, R.E.; Campbell, D.; Causton, H.C.; Christiansen, J.; Davidson, D.; Eichner, L.J.; Goo, Y.A.; Grimmond, S.; Henrich, T.; Johnson, M.H.; Korb, M.; Mills, J.C.; Oudes, A.; Parkinson, H.E.; Pascal, L.E.; Quackenbush, J.; Ramialison, M.; Ringwald, M.; Sansone, S.A.; Sherlock, G.; Stoeckert, C.J. Jr; Swedlow, J.; Taylor, R.C.; Walashek, L.; Zhou, Y.; Liu, A.Y. and True LD. Development of the Minimum Information Specification for In Situ Hybridization and Immunohistochemistry Experiments (MISFISHIE). OMICS Summer 10(2):205-8, 2006

  20. Dorin, J. Animal Models. In: Cystic Fibrosis in the 21st Century. Bush, A. et al. (eds) Prog Respir Res 34:84-92, 2006

  21. Durcova-Hills, G.; Adams, I.R.; Barton, S.C.; Surani, M.A. and McLaren, A. The role of exogenous fibroblast growth factor-2 on the reprogramming of primordial germ cells into pluripotent stem cells.
    Stem Cells
    24(6):1441-1449, 2006
    PubMed Abstract

  22. Farrington, S.M.; Tenesa, A.; Barnetson, R.; Wiltshire, A.; Wiltshire, A.; Prendergast, J.; Porteous, M.; Campbell, H. and Dunlop, M.G. Letter: Reply to Webb et al. Am J Hum Genet 79:771, 2006

  23. Faivre,L.; Williamson,K.A.; Faber,V.; Laurent,N.; Grimaldi,M.; Thauvin-Robinet,C.; Durand,C.; Mugneret,F.; Gouyon,J.B.; Bron,A.; Huet,F.; Hayward,C.; van Heyningen,V. and Fitzpatrick,D.R. Recurrence of SOX2 Anophthalmia Syndrome with Gonosomal Mosaicism in a Phenotypically Normal Mother. American Journal of Medical Genetics A140(6):636-639, 2006

  24. Gilbert, N., Bickmore, W.A. The relationship between higher-order chromatin structure and transcription. Biochem Soc Symp. 73:59-66, 2006

  25. Gissen, P.; Tee, L.; Johnson, C.A. Genin, E.; Caliebe, A.; Chitayat, D.; Clericuzio, C.; Denewcke, J.; Di Rocco, M.; Fischler, B.; Fitzpatrick, D.; Garcia-Cazorla, A.; Guyot, D.; Jacquemont, S.; Koletzko, S.; Leheup, B.; Mandel, H.; Sanseverino, M.T.; Houwen, R.H.; McKiernan, P.J.; Kelly, D.A. and Maher, E.R. Related Articles, Links Clinical and molecular genetic features of ARC syndrome. Human Genetics 120(3):396-409, 2006

  26. Guil, S., Long, J.C., Caceres, J.F. hnRNP A1 Relocalization to the Stress Granuales Reflects a Role in the Stress Response. Molecular and Cellular Biology 26:5744-5758, 2006

  27. Harris, S.E.; Fox, H.; Wright, A.F.; Hayward, C.; Starr, J.M.; Whalley, L.J. and Deary, I.J. The brain-derived neurotrophic factor Val66Met polymorphism is associated with age-related change in reasoning skills. Mol Psychiatry 11:505-513, 2006

  28. Hart, A.W.; Morgan, J.E.; Schneider, J.; West,K.; McKie, L.; Bhattacharya, S.; Jackson, I.J. and Cross, S.H. Cardiac malformation and midline skeletal defects in mice lacking filamin A. Human Molecular Genetics 15(16):2457-2467, 2006

  29. Hartley, P.S., Savill, J., Brown, S.B. The death of human platelets during incubation in citrated plasma involves shedding of CD42b and aggregation of dead platelets. Thromb.Haemost. 95:100-106, 2006

  30. Hever, A.M., Williamson, K.A., van Heyningen, V. Developmental malformations of the eye:the role of PAX6, SOX2 and OTX2. Clin Genet 69:459-470, 2006

  31. Hill,B. and Baldock, R.A. The Constrained Distance Transform: Interactive Atlas Registration with Large Deformations through constrained Distances. DEFORM'06 Workshop on Image Registration in Deformable Environments Edinburgh, Sept 2006

  32. Ho, G.T., Soranzo, N., Nimmo, E.R., Tenesa, A., Goldstein, D.B., Satsangi, J. ABCB1/MDR1 gene determines susceptibility and phenotype in ulcerative colitis: discrimination of critical variants using a gene-wide haplotype tagging approach. Hum Mol Genet 15:797-805, 2006

  33. Ho, G.T.; Soranzo, N.; Tate, S.K.; Drummond, H.; Nimmo, E.R.; Tenesa, A.; Arnott, I.D. and Satsangi, J. Lack of association of the pregnane X receptor (PXR/NR1I2) gene with inflammatory bowel disease: parallel allelic association study and gene wide haplotype analysis. Gut. 55(11):1676-7, 2006

  34. Hollway,G.E.; Maule,J.; Gautier,P.; Evans,T.M.; Keenan,D.G.; Lohs,C.; Fischer,D.; Wicking,C. and Currie,P.D. Scube2 mediates Hedgehog signalling in the zebrafish embryo. Developmental Biology 294:104-118, 2006

  35. Hohenstein, P. and Hastie, N.D. The many faces of the Wilms' tumour gene, /WT1/. Human Molecular Genetics 15 Review Issue 2:R196-R201, 2006

  36. Jackson, I.J. Identifying the genes causing human diversity. European Journal of Human Genetics 14:978-980, 2006

  37. Jackson, M., Watt, A.J., Gautier, P., Gilchrist, D., Driehaus, J., Graham, G.J., Keebler, J., Prugnolle, F., Awadalla, P., Forrester, L.M. A murine specific expansion of the Rhox cluster involved in embryonic stem cell biology is under natural selection. BMC Genomics 7:212, 2006

  38. Jennings, K.A.; Loder, M.K.; Sheward, W.J.; Pei, Q.; Deacon, R.M.; Benson, M.A.; Olverman, H.J.; Hastie, N.D.; Harmar, A.J.; Shen, S. and Sharp, T. Increased expression of the 5-HT transporter confers a low-anxiety phenotype linked to decreased 5-HT transmission. J Neurosci. 26(35):8955-64, 2006

  39. Johnson, D., Morrison, N., Grant, L., Turner, T., Fantes, J., Connor, J.M., Murday, V. Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins. J Med Genet 43:280-284, 2006

  40. Keegan, L. Won for All: How the Drosophila genome was sequenced. Ashburner, M. Book Review. Genet Res 88:191-193, 2006

  41. Keng, W.T., Harewood, L., Grace, E., Paxton, C., Lam, W.W., Fitzpatrick, D.R. A balanced reciprocal translocation in a case of hypomelanosis of Ito with confirmation of mosaicism using buccal cell interphase FISH. Am J Med Genet A 140(10):1111-1113, 2006

  42. Kleinjan, D.A.; Seawright, A.; Mella, S.; Carr, C. B.; Tyas, D.A.; Simpson, T.I.; Mason, J.O.; Price, D.J. and van Heyningen, V. Long-range downstream enhancers are essential for Pax6 expression. Developmental Biology 299:563-581, 2006
  1. Larralde, O.; Smith, R.W.P.; Wilkie, G.S.; Malik, P.; Gray, N.K. and Clements, J.B. Direct Stimulation of Translation by the Multifunctional Herpesvirus ICP27 Protein. Journal of Virology 80(3):1588-1591, 2006

  2. Lee, K.; Avondo, J.; Morrison, H.; Blot, L.; Stark, M.; Sharpe, J.; Bangham, A. and Coen, E. Visualizing plant development and gene expression in three dimensions using optical projection tomography Plant Cell 18:2145-2156, 2006

  3. Logan, D.W., Burn, S.F., Jackson, I.J. Regulation of pigmentation in zebrafish melanophores. Pigment Cell Res 19:206-213, 2006

  4. MacPherson, H.; Keir, P.A.; Edwards, C.J.; Webb, S. and Dorin, J.R. Following damage, the majority of bone marrow-derived airway cells express an epithelial marker. Respiratory Research 7:145, 2006

  5. McCullough, B.J., Eastwood, H., Clark, D.J., Polfer, N.C., Campopiano, D.J., Dorin, J.A., Maxwell, A., Langley, R.J., Govan, J.R.W., Bernstein, S.L., Bowers, T., Barran, P.E. Characterisation of DEFB107 by mass spectrometry: Lessons from an anti-antimicrobial defensin. International Journal of Mass Spectrometry 252:180-188, 2006

  6. McGurk,L.; Tzolovsky,G.; Spears,N.; and Bownes,M. The temporal and spatial expression pattern of Myosin Va, Vb and VI in the mouse ovary. Gene Expression Patterns 6:900-907, 2006

  7. Moore, H.R.; Meehan, R.R. and Young, L.E. Methylation-sensitive polymerase chain reaction. Methods Mol Biol 325:239-49, 2006

  8. Morey, C. and Bickmore, W. Sealed with a X. Nature Cell Biology 8(3):207-209, 2006

  9. O'Connell, M.A. and Keegan, L.P. Drosha versus ADAR: wrangling over pri-miRNA. Nature Structural & Molecular Biology 13(1):3-4, 2006

  10. O'Driscoll, M.; Jackson, A.P. and Jeggo, P.A. Microcephalin: a causal link between impaired damage response signalling and microcephaly. Cell Cycle. 5(20):2339-44, 2006

  11. Park, J.G.; Kim, D.W.; Hong, C.W.; Nam, B.H.; Shin, Y.K.; Hong, S.H.; Kim, I.J.; Lim, S.B.; Aronson, M.; Bisgaard, M.L.; Brown, G.J.; Burn, J.; Chow, E.; Conrad, P.; Douglas. F.; Dunlop, M.; Ford, J.; Greenblatt M.S.; Heikki, J.; Heinimann, K.; Lynch, E.L.; Macrae, F.; McKinnon, W.C.; Moeslein, G.; Rossi, B.M.; Rozen, P.; Schofield, L.; Vaccaro, C.; Vasen, H.; Velthuizen, M.; Viel, A. and Wijnen, J. Germ line mutations of mismatch repair genes in hereditary nonpolyposis colorectal cancer patients with small bowel cancer: International Society for Gastrointestinal Hereditary Tumours Collaborative Study. Clin Cancer Res. 12(11 Pt 1):3389-93, 2006

  12. Plastira, K.; Maher, E.; Fantes, J.; Ramsay, J. and Angelopoulou, R. Using BAC clones to characterize unbalanced chromosome abnormalities in interphase cells. Eur J Med Genet. 49(3):235-46, 2006

  13. Rudan, I., Biloglav, Z., Carothers, A.D., Wright, A.F., Campbell, H. Strategy for mapping quantitative trait loci (QTL) by using human metapopulations. Croat.Med J 47:532-542, 2006

  14. Rudan, I.; Campbell,; H. Carothers, A.D.; Hastie, N.D. and Wright, A.F. Contribution of consanguinuity to polygenic and multifactorial diseases. Nature Genetics 38(11):1224-5, 2006

  15. Samuels, D.C.; Carothers, A.D.; Horton, R. and Chinnery, P.F. The Power to Detect Disease Associations with Mitochondrial DNA Haplogroups. American Journal of Human Genetics 78(4):713-720, 2006

  16. Semple CA, Gautier P, Taylor K, Dorin JR. The changing of the guard: Molecular diversity and rapid evolution of beta-defensins. Molecular Diversity 10(4):575-84, 2006

  17. Semple, C.A., Taylor, K., Eastwood, H., Barran, P.E., Dorin, J.R. Beta-defensin evolution: selection complexity and clues for residues of functional importance. Biochem Soc Trans 34:257-262, 2006

  18. Shu, X., Tulloch, B., Lennon, A., Vlachantoni, D., Zhou, X., Hayward, C., Wright, A.F. Disease mechanisms in late-onset retinal macular degeneration associated with mutation in C1QTNF5. Hum Mol Genet 15:1680-1689, 2006

  19. Shu, X., Tulloch, B., Lennon, A., Hayward, C., O'Connell, M.A., Cideciyan, A.V., Jacobson, S.G. and Wright, A.F. Biochemical characterisation of the C1QTNF5 gene associated with late-onset retinal degeneration. A genetic model of age-related macular degeneration. Adv Exp Med Biol 572:41-8, 2006

  20. Shu,X.; Zeng,Z.; Eckmiller,M.S.; Gautier,P.; Vlachantoni,D; Manson,F.D.C.; Tulloch,B.; Sharpe,C.; Gorecki,D.C. and Wright,A.F.Developmental and tissue expression of Xenopus laevis RPGR. Invest Ophthalmol Vis Sci. 47(1):348-56, 2006

  21. Sisodiya, S.M.; Ragge, N.K.; Cavalleri, G.L.; Hever, A.; Lorenz, B.; Schneider, A.; Williamson, K.A.; Stevens, J.M.; Free, S.L.; Thompson, P.J.; van Heyningen, V. and Fitzpatrick, D.R. Role of SOX2 mutations in human hippocampal malformations and epilepsy. Epilepsia 47(3):534-42, 2006

  22. Smith,B.H.; Campbell,H.; Blackwood,D.; Connell,J.; Connor,M.; Deary,I.J.; Dominiczak,A.F.; Fitzpatrick,B.; Ford,I.; Jackson,C.; Haddow,G.; Kerr,S.; Lindsay,R.; McGilchrist,M.; Morton,R.; Murray,G.; Palmer,C.N.; Pell,J.P.; Ralston,S.H.; St Clair,D.; Sullivan,F.; Watt,G.; Wolf,R.; Wright,A.; Porteous,D.and Morris,A.D. Generation Scotland: the Scottish Family Health Study; anew resource for researching genes and heritablility. BMC Medical Genetics 7(74):1-9, 2006

  23. Smoljanovic,M.; Ristic,S. and Hayward,C. Historic Exposure to Plague and Present-day Frequency of CCR5del32 in Two Isolated Island Communities of Dalmatia, Croatia. Croat Med J 47:579-84, 2006

  24. Smyth,I.; Wilming,L.; Lee,A.W.; Taylor,M.S.; Gautier,P.; Barlow,K.; Wallis,J.; Martin,S.; Glithero,R.; Phillimore,B.; Pelan,S.; Andrew,R.; Holt,K.; Taylor,R.; McLaren,S.; Burton,J.; Bailey,J.; Sims,S.; Squares,J.; Plumb,B.; Joy,A.; Gibson,R.; Gilbert,J.; Hart,E.; Laird,G.; Loveland,J.; Mudge,J.; Steward,C.; Swarbreck,D.; Harrow,J.; North,P.; Leaves,N.; Greystrong,J.; Coppola,M.; Manjunath,S.; Campbell,M.; Smith,M.; Strachan,G.; Tofts,C.; Boal,E.; Cobley,V.; Hunter,G.; Kimberley,C.; Thomas,D.; Cave-Berry,L.; Weston,P.; Marc,R.M.; White,S.; Edgar,R.; Cross,S.H.; Irvani,M.; Hummerich,H.; Simpson,E.H.; Johnson,D.; Hunsicker,P.R.; Little,P.F.R.; Hubbard,T.; Campbell,R.D.; Rogers,J. and Jackson,I.J. Genomic Anatomy of the Tyrp1 (brown) deletion complex. PNAS 103(10):3704-3709, 2006

  25. Sutherland, H.G.; Newton, K.; Brownstein, D.G.; Holmes, M.C.; Kress, C.; Semple, C.A. and Bickmore, W.A. Disruption of Ledgf/Psip1 Results in Perinatal Mortality and Homeotic Skeletal Transformations. Molecular and Cellular Biology 26(19):7201-7210, 2006

  26. Takemoto,Y.; Keighren,M.; Jackson,I.J. and Yamamoto,H. Genomic localization of a Dct-LacZ transgene locus: a simple assay for transgene status. Pigment Cell Res 19:644-645, 2006

  27. Taylor, M.S.; Kai, C.; Kawai, J.; Carninci, P.; Hayashizaki, Y.; Semple, C.A.M. Heterotachy in Mammalian Promoter Evolution. PLoS Genetics 2(4):e30, 2006

  28. Tenesa, A., Campbell, H., Barnetson, R., Porteous, M., Dunlop, M., Farrington, S.M. Association of MUTYH and colorectal cancer. British Journal of Cancer 95:239-242, 2006

  29. Tenesa, A., Dunlop, M.G. Validity of tagging SNPs across populations for association studies. Eur.J Hum Genet 14:357-363, 2006

  30. Tenesa, A., Noble, C., Satsangi, J., Dunlop, M. Association of DLG5 and inflammatory bowel disease across populations. Eur.J Hum Genet 14:259-260, 2006

  31. Tiffin, N.; Adie, E.; Turner, F.; Brunner, H.G.; van Driel, M.A.; Oti, M.; Lopez-Bigas, N.; Ouzounis, C.; Perez-Iratxeta, C.; Andrade-Navarro, M.A.; Adeyemo, A.; Patti, M.E.; Semple, C.A.M. and Hide, W. Computational disease gene identification: a concert of methods prioritizes type 2 diabetes and obesity candidate genes. Nucleic Acids Research 34(10):3067-3081, 2006

  32. Tyas, D.A., Simpson, T.I., Carr, C.B., Kleinjan, D.A., van, H., V, Mason, J.O., Price, D.J. Functional conservation of Pax6 regulatory elements in humans and mice demonstrated with a novel transgenic reporter mouse. BMC Dev Biol 6:21, 2006

  33. Underwood, S.L., Christoforou, A., Thomson, P.A., Wray, N.R., Tenesa, A., Whittaker, J., Adams, R.A., Le Hellard, S., Morris, S.W., Blackwood, D.H., Muir, W.J., Porteous, D.J., Evans, K.L. Association analysis of the chromosome 4p-located G protein-coupled receptor 78 (GPR78) gene in bipolar affective disorder and schizophrenia. Mol Psychiatry 11:384-394, 2006

  34. Vitart, V.; Biloglav, Z.; Hayward, C.; Janicijevic, B.; Smolej-Narancic, N.; Barac, L.; Pericic, M.; Klaric, I.M.; Skaric-Juric, T.; Barbalic, M.; Polasek, O.; Kolcic, I.; Carothers, A.; Rudan, P.; Hastie, N.; Wright, A.; Campbell, H. and Rudan I. 3000 years of solitude: extreme differentiation in the island isolates of Dalmatia, Croatia. Eur J Hum Genet 14(4):478-87, 2006

  35. Wells, D.J.; Playle, L.C.; Enser, W.E.J.; Flecknell, P.A.; Gardiner, M.A.; Holland, J.; Hubrecht, R.; Humphreys, K.R.; Jackson, I. J.; Lane, N.; Maconochie, M.; Mason, G.; Morton, D.B.; Raymond, R.; Robinson, V.; Smith, J.A. and Watt, N. Assessing the welfare of genetically altered mice. Laboratory Animals 40:111-114, 2006

  36. Williamson, K.A.; Hever, A.M.; Rainger, J.; Rogers, R.C.; Magee, A.; Fiedler, Z.; Keng, W.T.; Sharkey, F.H.; McGill, N.; Hill, C.J.; Schneider, A.; Messina, M.; Turpenny, P.D.; Fantes, J.A.; van Heyningen, V. and FitzPatrick, D.R. Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome. Human Molecular Genetics 15(9):1413-1422, 2006

  37. Willnow, T.E.; Antignac, C.; Brandli, A.W.; Christensen, E.I.; Cox, R.; Davidson, D.; Davies, J.A.; Devuyst, O.; Eichele, G.; Hastie, N.D.; Verroust, P.J.; Schedl, A. and Meij, I.C. The European Renal Genome Project: An Integrated Approach Towards Understanding the Genetics of Kidney Development and Disease. Organogenesis 2(2):42-47, 2006

  38. Zhang,L.; Wang,T.; Wright,A.F.; Suri,M.; Schwartz,C.E.; Stevenson,R.E.; and Valle,D. A microdeletion in Xp11.3 accounts for co-segregation of retinitis pigmentosa and mental retardation in a large kindred. Am J Med Genet A. 140(4):349-57, 2006