Docstoc

2008

Document Sample
2008 Powered By Docstoc
					2008 An Q, Wright SL, Konn ZJ, Matheson E, Minto L. Moorman AV, OParker H, Griffiths M, Ross FM, Davies T, Hall AG, Harrison CJ, Irving JA, Strefford JC. Variable breakpoints target PAX5 in patients with dicentric chromosomes: a model for the basis of unbalanced translocations in cancer. Proc Natl Acad Sci USA 2008 105:17050-17054 Bakrania P, Efthymiou M, Klein JC, Salt A, Bunyan DJ, Wyatt A, Ponting CP, Martin A, Williams S, Lindley V, Gilmore J, Restori M, Robson AG, Neveu MM, Holder GE, Collin JR, Robinson DO, Farndon P, Johansen-Berg H, Gerrelli D, Ragge NK. Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signalling pathways. Am J Hum Genet 2008 82:304319 Baptista J, Mercer C, Prigmore E, Gribble SM, Carter NP, Maloney V, Thomas NS, Jacobs PA, Crolla JA. Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort. Am J Hum Genet 2008 82:927-936 Barber JCK. Chromosomal copy number variation. Eur Cytogenet Assoc Newsletter 2008 22:6-14 Barber JCK. Correspondence. Terminal 3p deletions: jPhenotypic variability, chromosomal non-penetrance, or gene modification? Am J Med Genet 2008 146A:18991901 Barber JCK, Maloney VK, Huang S, Bunyan DJ, Cresswell L, Kinning E, Benson A, Cheetham T, Wyllie J, Lynch SA, Zwolinski S, Prescott L, Crow Y, Morgan R, Hobson E. 8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH. Eur J Hum Genet 2008 16:18-27 Blyth M, Foulds N, Turner C, Bunyan D. Clinical Report: Severe Marfan syndrome due to FBN1 exon deletions. A J Med Genet 2008 146:1320-1324 Blyth M, Huang S, Maloney V, Crolla JA, Temple IK. Chromosomal imbalance letter: A 2.3 Mb deletion of 17q24.2-q24.3 associated with ‘Carney Complex plus’. Eur J Med Genet 2008 ??:1-7 Boonen SE, Pőrksen S, Mackay DJG, Oestergaard E, Olsen B, Brondum-Nielsen K, Temple IK, Hahnemann JMD. Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings. Eur J Hum Genet 2008 16:453-461 Branford S, Fletcher L, Cross NC, Muller MC, Hochhaus A, Kim DW, Radich JP, Saglio G, Pane F, Kamel-Reid S, Wang YL, Press RD, Lynch K, Rudzki Z, Goldman JM, Hughes T. Desirable performance characteristics for BCR-ABL measurement on an international reporting scale to allow consistent interpretation of individual patient response and comparison of response rates between clinical trials. Blood 2008 112:33303338

Bullman H, Lever M, Robinson DO, Mackay DJG, Holder SE, Wakeling EL. Letter to JMG: Mosaic maternal uniparental disomy of chromosome 11 in a patient with SilverRussell syndrome. J Med Genet 2008 45:396-399 Bunyan DJ, Robinson DO. Multiple de novo mutations in the MECP2 gene. Genet Test 2008 12:373-375 Cross NCP. Hitchhikers’ guide to the leukemia genome. Blood 2008 111:4428-4429 Cross NCP, Daley GQ, Green AR, Hughes TP, Jamieson C, Manley P, Mughal T, Perrotti D, Radich J, Skoda R, Soverini S, Vainchenker W, Verstovsek S, Villeval J-L, Goldman JM. BCR-ABL1-positive CML and BCR-ABL1-negative chronic myeloproliferative disorders: some common and contrasting features. Leukemia 2008 22:1975-1989 *Cross NC, Hughes TP, Hochhaus A, Goldman JM. International standardisation of quantitative real-time RT-PCR for BCR-ABL. Leuk Res 2008 32:505-506 Cross NCP, Reiter A. Fibroblast growth factor receptor and platelet-derived growth factor receptor abnormalities in eosinophilic myeloproliferative disorders. Acta Haematol 2008 119:199-206 Feyler S, O’Connor SJM, Rawstron AC, Subash C, Ross FM, Pratt G, Drayson MT, Ashcroft J, Cook G, Owen RG. IgM myeloma: a rare entity characterized by a CD20CD56-CD117-immunophenotype and the t(11;14).Br J Haematol 2008 140:547-551 Gilbert RD, Turner C, Gibson J, Bass P, Haq MR, Cross E, Bunyan DJ, Collins A, Tapper W, Needell J, Dekll B, Morton N, Temple IK, Robinson DO. Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis. Kidney International 2008 Gole LA, Lim J, Crolla JA, Loke KY. Gonadal mosaicism 45,X/46,X,psu dic(Y)(q11.2) resulting in a Turner phenotype with mixed gonadal dysgenesis. Singapore Med J 2008 49:349-351 Hidalgo-Curtis C, Chase A, Drachenberg M, Roberts MW, Finkelstein JZ, Mould S, Oscier D, Cross NCP, Grand FH. The t(1;9)(p34;q34) and t(8;12)(p11;q15) fuse premRNA processing proteins SFPQ (PSF) and CPSF6 to ABL and FGFR1. Genes, Chromosomes & Cancer 2008 47:379-385 Hollox EJ, Barber JCK, Brookes AJ, Armour JAL. Defensins and the dynamic genome: What we can learn from structural variation at human chromosome band 8p23.1.Genome Research 2008 18:1686-1697. Huang KP, Chase AJ, Cross NC, Reiter A, Li TY, Wang TF, Chu SC, Lu XY, Li CC, Kao RH. Evolutional change of karyotype with t(8;9)(p22;p24) and HLA-DR immunophenotype in relapsed acute myeloid leukemia. Int J Hematol 2008 88:197-201 Kantarci S, Ragge NK, Thomas NS, Robinson DO, Noonan KM, Russell MK, Donnai D, Raymond FL, Walsh CA, Donahoe PK, Pober BR. Donnai-Barrow syndrome

(DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy. Am J Med Genet 2008 146A:1842-1847 *Kelberman D, de Castro SC, Haung S, Crolla JA, Palmer R, Gregory JW, Taylor D, Cavallo L, Faienza MF, Fischetto R, Achermann JC, Martinez-Barbera JP, Rizzoti K, Lovell-Badge R, Robinson IC, Gerrelli D, Dattani MT. SOX2 plays a critical role in the pituitary, forebrain and eye during human embryonic development. J Clin Endocrinol Metab 2008 93:1865-1873 Leone PE, Walker BA, Jenner MW, Chiecchio L, Dagrada G, Protheroe RK, Johnson DC, Dickens NJ, Brito JL, Else M, Gonzalez D, Ross FM, Chen-Kiang S, Davies FE, Morgan GL. Deletions of CDKN2C in multiple myeloma: biological and clinical implications. Clin Cancer Res 2008 14:6033-6041 Mackay DJG, Callaway JLA, Marks SM, White HE, Acerini CL, Boonen SE, Dayanikli P, Firth HV, Goodship JA, Haemers AP, Hahnemann JMD, Kordonouri O, Masoud AF, Oestergaard E, Storr J, Ellard S, Hattersley AT, Robinson DO, Temple IK. Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. Brief Communications. Nat Genet 2008 40:949-951. Marsh EA, Robinson DO. A case of rare recessive oculopharyngeal muscular dystrophy (OPMD) coexisting with hereditary neuropathy with liability to pressure palsies (HNPP). Clin Neurol Neurosurg 2008 110:525-528 McBrien J, Crolla JA, Huang, S, Kelleher J, Gleeson J, Lynch SA. Clinical Report: further case of microdeletion of 8q24 with phenotype overlapping Langer-Giedion without TRPS1 deletion. Am J Med Genet 2008 146A:1587-1592. Mefford H, Sharp A, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney V, Crolla J, Baralle D, Collins A, Mercer C, Norga K, de Ravel T, Devriendt K, Bongers E, de Leeuw N, Reardon W, Gimelli S, Bena F, Hennekam R, Male A, Gaunt L, Clayton-Smith J, Simonic I, Park S, Mehta S, Nik-Zainal S, Woods C, Firth H, Parkin G, Fishera M, Reitano S, Lo Giudice M, Li K, Casuga I, Broomer A, Conrad B, Schwerzmann M, Räber L, Gallati S, Striano P, Coppola A, Tolmie J, Tobias E, Lilley C, Armengol L. Spysschaert Y, Verloo P, De Coene A, Goossens L. Mortier G, Speleman F, van Binsbergen E, Nelen M, Hochstenbach R, Poot M, Gallagher L, Gill M, McClellan J, King M-C, Regan R, Skinner C, Stevenson R, Antonarakis S, Chen C, Estivill X, Menten B, Gimelli G, Gribble S, Schwartz S, Sutcliffe J, Walsh T, Knight S, Sebat J, Romano C, Schwartz C, Veltman J, de Vries B, Vermeesch J, Barber J, Willatt L. Tassabehji M, Eichler E. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med 2008 359:1685-1699 *Metzgeroth G, Walz C, Erben P, Popp H, Schmitt-Graeff A, Haferlach C, Fabarious A, Schnittger S, Grimwade D, Cross NC, Hehlmann R, Hochhaus A, Reiter A. Safety and efficacy of imatinib in chronic eospinophilic leukaemia and hypereosinophilic syndrome – a phase-II study. Br J Haematol 2008

Migeon BR, Pappas K, Stetten G, Trunca C, Jacobs P. X-inactivation in triploidy and trisomy; the search for autosomal transfactors that choose the active X. Eur J Hum Genet 2008 16:153-162 Morris JK, Alberman E, Scott C, Jacobs PA. Is the prevalence of Klinefelter syndrome increasing? Eur J Hum Genet 2008 16:163-170 Murphy R, Baptista J, Holly J, Umpleby AM, Ellard S, Harries LW, Crolla J, Cundy T, Hattersley AT. Severe intrauterine growth retardation and atypical diabetes associated with a translocation breakpoint disrupting regulation of the insulin-like growth factor 2 gene. J Clin Endocrinol Metab 2008 93:4373-4380 Ozgen HM, Staal WG, Barber JC, de Jonge MV, Eleveld MJ, Beemer FA, Hochstenbach R, Poot M. A novel 6.14 Mb duplication of chromosome 8p21 in a patient with autism and self mutilation. Autism Dev Disord 2008 ?? Parker H, An Q, Barber K, Case M, Davies T, Konn Z, Stewart A, Wright S, Griffiths M, Ross FM, Moorman AV, Hall AG, Irving JA, Harrison CJ, Strefford JC. The complex genomic profile of ETV6-RUNX1 positive acute lymphoblastic leukemia highlights a recurrent deletion of TBL1XR1. Genes Chromosomes Cancer 2008 47:1118-1125 Robinson DO, Howarth RJ, Williamson KA, van Heyningen V, Beal SJ, Crolla JA. Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia. Am J Med Genet 2008 146A:558-569 Russell LJ, Akasaka T, Majid A, sugimoto KJ, Loraine KE, Nagel I, Harder L, Claviez A, Gesk S, Moorman AV, Ross F, Mazzullo H, Strefford JC Siebert R, Dyer MJ, Harrison CJ.t(6;14)(p22;q32): a new recurrent IGH@ translocation involving ID4 in B-cell precursor acute lymphoblastic leukemia (BCP-ALL). Blood 2008 111:387391 Schoemaker MJ, Swerdlow AJ, Higgins CD, Wright AF, Jacobs PA, for the UK Clinical Cytogenetics Group. Cancer incidence in women with Turner syndrome in Great Britain: a national cohort study. Lancet 2008 9:239-246 Schoemaker MJ, Swerdlow AJ, Higgins CD, Wright AF, Jacobs PA, for the UK Clinical Cytogenetics Group.Mortality in women with Turner syndrome in Great Britain: a national cohort study. J Clin Endoc Metab 2008 93:4735-4742 Shield JP, Flanagan SE, Mackay DJ, Harries LW, Proks P, Girard C, Ashcroft FM, Temple IK, Ellard S. Mosaic paternal uniparental isodisomy and an ABCC8 gene mutation in a patient with permanent neonatal diabetes and hemihypertrophy. Diabetes 2008 57:255-258 Swerdlow AJ, Schoemaker MJ, Higgins CD, Wright AF, Jacobs PA. On behalf of the UK Clinical Cytogenetics Group. Mortality risks in patients with constitutional autosomal chromosome deletions in Britain: a cohort study. Hum Genet 2008: 123:215-224

Swerdlow AJ, Schoemaker MJ, Higgins CD, Wright AF, Jacobs PA. Cancer risk in patients with constitutional chromosome deletions: a nationwide British cohort study. Br J Cancer 2008 98:1929-1933 Truong HT, Solaymani-Kohal S, Baker KR, Girirajan S, Williams SR, Vlangos CN, Smith ACM, Bunyan DJ, Roffey PR, Blanchard CL, Elsea SH. Genetic Testing 2008 12:67-73 Thomas NS, Bryant V, Maloney V, Cockwell AE, Jacobs PA. Investigation of the origins of human autosomal inversions. Hum Genet 2008 123:607-616 Walz C, Cross NCP, Van Etten RA, Reiter A. Comparison of mutated ABL1 and JAK2 as oncogenes and drug targets in myeloproliferative disorders. Leukemia 2008 22:1320-1334 *Walz C, Haferlach C, Hanel A, Metzgeroth G, Erben P, Gosenca D, Hochhaus A, Cross NC, Reiter A. Identification of a MYO18A-PDGFRB fusion gene in an eosinophilia-associated atypical myeloproliferative neoplasm with a t(5;17)(q3334;q11.2). Genes Chromosomes Cancer 2008-11-26 Wang YL, Vandris K, Jones A, Cross NC, Christos P, Adriano F, Silver RT. JAK2 mutations are present in all cases of polycuthemia vera. Leukemia 2008 22:1289 *Wilson HL, Crolla JA, Walker D, Artifoni L, Dallapiccola B, Takano T, Vasudevan P, Huang S, Maloney V, Yobb T, Quarrell O, McDermid HE. Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development. Eur J Hum Genet 2008 16:1301-1310 Wyatt A, Bakrania P, Bunyan DJ, Osborne RJ, Crolla J, Salt A, Ayuso C, NewburyEcob R, Abou-Rayyah Y, Collin JRO, Robinson DO, Ragge N. Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma. Hum Mutat 2008


				
DOCUMENT INFO
Shared By:
Categories:
Tags:
Stats:
views:23
posted:11/15/2009
language:English
pages:5