Publication Archives 2006
Human Genetics Unit: Staff Papers 2006
Keyword Search
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- Christiansen, J.H. One ISH, two ISH, red ISH, blue ISH: choosing the right in situ
hybridisation protocol. Development 133(24):4802-3, 2006
- 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
- 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
- Collier, B. and Gray, N.K. Clevage, a real turn-off? HIV-mediated proteolysis of
PABP1. Biochem J 396:e9-e11, 2006
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- Dorin, J. Animal Models. In: Cystic Fibrosis in the 21st Century. Bush, A. et
al. (eds) Prog Respir Res 34:84-92, 2006
- 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
- 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
- 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
- Gilbert, N., Bickmore, W.A. The relationship between higher-order chromatin structure
and transcription. Biochem Soc Symp. 73:59-66, 2006
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- Jackson, I.J. Identifying the genes causing human diversity. European Journal of
Human Genetics 14:978-980, 2006
- 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
- 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
- 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
- Keegan, L. Won for All: How the Drosophila genome was sequenced. Ashburner, M. Book
Review. Genet Res 88:191-193, 2006
- 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
- 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
- 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
- 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
- Logan, D.W., Burn, S.F., Jackson, I.J. Regulation of pigmentation in zebrafish
melanophores. Pigment Cell Res 19:206-213, 2006
- 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
- 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
- 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
- Moore, H.R.; Meehan, R.R. and Young, L.E. Methylation-sensitive polymerase chain
reaction. Methods Mol Biol 325:239-49, 2006
- Morey, C. and Bickmore, W. Sealed with a X. Nature Cell Biology 8(3):207-209,
2006
- O'Connell, M.A. and Keegan, L.P. Drosha versus ADAR: wrangling over pri-miRNA.
Nature Structural & Molecular Biology 13(1):3-4, 2006
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- Tenesa, A., Dunlop, M.G. Validity of tagging SNPs across populations for association
studies. Eur.J Hum Genet 14:357-363, 2006
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
