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The cancer genomeSTRATTON, Michael R; CAMPBELL, Peter J; FUTREAL, P. Andrew et al.Nature (London). 2009, Vol 458, Num 7239, pp 719-724, issn 0028-0836, 6 p.Article

Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasmsMALCOVATI, Luca; PAPAEMMANUIL, Elli; GALLI, Anna et al.Blood. 2011, Vol 118, Num 24, pp 6239-6246, issn 0006-4971, 8 p.Article

Complex landscapes of somatic rearrangement in human breast cancer genomesSTEPHENS, Philip J; MCBRIDE, David J; GREENMAN, Chris D et al.Nature (London). 2009, Vol 462, Num 7276, pp 1005-1010, issn 0028-0836, 6 p.Article

JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosisSCOTT, Linda M; WEI TONG; WARREN, Alan J et al.The New England journal of medicine. 2007, Vol 356, Num 5, pp 459-468, issn 0028-4793, 10 p.Article

A multicenter study of cancer incidence in CHEK2 1100delC mutation carriersTHOMPSON, Deborah; SEAL, Sheila; KLIJN, Jan et al.Cancer epidemiology, biomarkers & prevention. 2006, Vol 15, Num 12, pp 2542-2545, issn 1055-9965, 4 p.Article

BRAF and RAS mutations in human lung cancer and melanomaBROSE, Marcia S; VOLPE, Patricia; ROTH, Jack A et al.Cancer research (Baltimore). 2002, Vol 62, Num 23, pp 6997-7000, issn 0008-5472, 4 p.Article

DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndromeSLADE, Ingrid; BACCHELLI, Chiara; JENKINSON, Helen et al.Journal of medical genetics. 2011, Vol 48, Num 4, pp 273-278, issn 0022-2593, 6 p.Article

Genetic and Structural Variation in the Gastric Cancer Kinome Revealed through Targeted Deep SequencingZHI JIANG ZANG; CHOON KIAT ONG; LIM, Siyu et al.Cancer research (Chicago, Ill.). 2011, Vol 71, Num 1, pp 29-39, issn 0008-5472, 11 p.Article

A comprehensive catalogue of somatic mutations from a human cancer genomePLEASANCE, Erin D; CHEETHAM, R. Keira; KAI YE et al.Nature (London). 2010, Vol 463, Num 7278, pp 191-196, issn 0028-0836, 6 p.Article

High throughput DNA sequence variant detection by conformation sensitive capillary electrophoresis and automated peak comparisonDAVIES, Helen; DICKS, Ed; STEVENS, Claire et al.Genomics (San Diego, Calif.). 2006, Vol 87, Num 3, pp 427-432, issn 0888-7543, 6 p.Article

The gene for juvenile hyaline fibromatosis maps to chromosome 4q21RAHMAN, Nazneen; DUNSTAN, Melanie; KESER, Gokhan et al.American journal of human genetics. 2002, Vol 71, Num 4, pp 975-980, issn 0002-9297, 6 p.Article

Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental RetardationFROYEN, Guy; CORBETT, Mark; CHELLY, Jamel et al.American journal of human genetics. 2008, Vol 82, Num 2, pp 432-443, issn 0002-9297, 12 p.Article

Mutations in the gene encoding the sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardationTARPEY, Patrick S; STEVENS, Claire; DICKS, Ed et al.American journal of human genetics. 2006, Vol 79, Num 6, pp 1119-1124, issn 0002-9297, 6 p.Article

Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardationTARPEY, Patrick; PARNAU, Josep; KORNY, Angelique et al.American journal of human genetics. 2004, Vol 75, Num 2, pp 318-324, issn 0002-9297, 7 p.Article

Cancer and genomics : The human genomeFUTREAL, P. Andrew; KASPRZYK, Arek; BIRNEY, Ewan et al.Nature (London). 2001, Vol 409, Num 6822, pp 850-852, issn 0028-0836Article

Confirmation of a gene locus for medullary cystic kidney disease (MCKD2) on chromosome 16p12HATEBOER, Nick; GUMBS, Curtis; TEARE, M. Dawn et al.Kidney international. 2001, Vol 60, Num 4, pp 1233-1239, issn 0085-2538Article

Intratumor Heterogeneity and Branched Evolution Revealed by Multiregion SequencingGERLINGER, Marco; ROWAN, Andrew J; VARELA, Ignacio et al.The New England journal of medicine. 2012, Vol 366, Num 10, pp 883-892, issn 0028-4793, 10 p.Article

Interleukin-8 Mediates Resistance to Antiangiogenic Agent Sunitinib in Renal Cell CarcinomaDAN HUANG; YAN DING; MING ZHOU et al.Cancer research (Chicago, Ill.). 2010, Vol 70, Num 3, pp 1063-1071, issn 0008-5472, 9 p.Article

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disabilitySHOUBRIDGE, Cheryl; TARPEY, Patrick S; PUUSEPP, Helen et al.Nature genetics. 2010, Vol 42, Num 6, pp 486-488, issn 1061-4036, 3 p.Article

Loss of the mismatch repair protein MSH6 in human Glioblastomas is associated with tumor progression during temozolomide treatmentCAHILL, Daniel P; LEVINE, Kymberly K; LAFRATE, A. John et al.Clinical cancer research. 2007, Vol 13, Num 7, pp 2038-2045, issn 1078-0432, 8 p.Article

Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephalyFIELD, Michael; TARPEY, Patrick S; BARTHORPE, Syd et al.American journal of human genetics. 2007, Vol 81, Num 2, pp 367-374, issn 0002-9297, 8 p.Article

Novel Chromosomal Rearrangements and Break Points at the t(6;9) in Salivary Adenoid Cystic Carcinoma: Association with MYB-NFIB Chimeric Fusion, MYB Expression, and Clinical OutcomeMITANI, Yoshitsugu; RAO, Pulivarthi H; CAULIN, Carlos et al.Clinical cancer research (Print). 2011, Vol 17, Num 22, pp 7003-7014, issn 1078-0432, 12 p.Article

Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype―phenotype correlationRUJIRABANJERD, Sinitdhorn; NELSON, John; FUTREAL, P. Andrew et al.European journal of human genetics. 2010, Vol 18, Num 3, pp 330-335, issn 1018-4813, 6 p.Article

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairmentDIBBENS, Leanne M; TARPEY, Patrick S; EDKINS, Sarah et al.Nature genetics. 2008, Vol 40, Num 6, pp 776-781, issn 1061-4036, 6 p.Article

Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental RetardationMOLINARI, Florence; FOULQUIER, Francois; MATTHIJS, Gert et al.American journal of human genetics. 2008, Vol 82, Num 5, pp 1150-1157, issn 0002-9297, 8 p.Article

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