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Methods and strategies for analyzing copy number variation using DNA microarraysCARTER, Nigel P.Nature genetics. 2007, Vol 39, Num 7, issn 1061-4036, S16-S21, SUPArticle

Separation of the PROX1 gene from upstream conserved elements in a complex inversion/ translocation patient with hypoplastic left heartGILL, Harinder K; PARSONS, Sian R; ROBERTS, Roland G et al.European journal of human genetics. 2009, Vol 17, Num 11, pp 1423-1431, issn 1018-4813, 9 p.Article

Autosomal-Dominant Microtia Linked to Five Tandem Copies of a Copy-Number-Variable Region at Chromosome 4p16BALIKOVA, Irina; MARTENS, Kevin; VIKKULA, Miikka et al.American journal of human genetics. 2008, Vol 82, Num 1, pp 181-187, issn 0002-9297, 7 p.Article

Array-CGH analysis of microsatellite-stable, near-diploid bowel cancers and comparison with other types of colorectal carcinomaJONES, Angela M; DOUGLAS, Eleanor J; HALFORD, Sarah E. R et al.Oncogene (Basingstoke). 2005, Vol 24, Num 1, pp 118-129, issn 0950-9232, 12 p.Article

The DNA sequence of the human X chromosomeROSS, Mark T; GRAFHAM, Darren V; FRANKISH, Adam et al.Nature (London). 2005, Vol 434, Num 7031, pp 325-337, issn 0028-0836, 13 p.Article

DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disordersSWAMINATHAN, Ganesh J; BRAGIN, Eugene; CHATZIMICHALI, Eleni A et al.Human molecular genetics (Print). 2012, Vol 21, Num 1, issn 0964-6906, R37-R44, NS1Article

FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formationKOUMBARIS, George; HATZISEVASTOU-LOUKIDOU, Hariklia; SKORDIS, Nicos et al.Human molecular genetics (Print). 2011, Vol 20, Num 10, pp 1925-1936, issn 0964-6906, 12 p.Article

Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other MalformationsSTANKIEWICZ, Pawel; SEN, Partha; BAUER, Mislen et al.American journal of human genetics. 2009, Vol 84, Num 6, pp 780-791, issn 0002-9297, 12 p.Article

Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulatorsGESTRI, Gaia; OSBORNE, Robert J; FITZGERALD, Tomas et al.Human genetics. 2009, Vol 126, Num 6, pp 791-803, issn 0340-6717, 13 p.Article

Clinical implication of recurrent copy number alterations in hepatocellular carcinoma and putative oncogenes in recurrent gains on 1qKIM, Tae-Min; YIM, Seon-Hee; CARTER, Nigel P et al.International journal of cancer. 2008, Vol 123, Num 12, pp 2808-2815, issn 0020-7136, 8 p.Article

Replication timing of the human genomeWOODFINE, Kathryn; FIEGLER, Heike; BEARE, David M et al.Human molecular genetics (Print). 2004, Vol 13, Num 2, pp 191-202, issn 0964-6906, 12 p.Article

A candidate gene for congenital bilateral isolated ptosis identified by molecular analysis of a de novo balanced translocationMCMULLAN, Tristan F. W; CROLLA, John A; GREGORY, Simon G et al.Human genetics. 2002, Vol 110, Num 3, pp 244-250, issn 0340-6717Article

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variantsPINTO, Dalila; DARVISHI, Katayoon; PRASAD, Aparna et al.Nature biotechnology (Print). 2011, Vol 29, Num 6, pp 512-520, issn 1087-0156, 9 p.Article

A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variationCHANDA, Bhaskar; ASAI-COAKWELL, Mika; LEHMANN, Ordan J et al.Human molecular genetics (Print). 2008, Vol 17, Num 22, pp 3446-3458, issn 0964-6906, 13 p.Article

EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosaABD EL-AZIZ, Mai M; BARRAGAN, Isabel; SHAH, Amna et al.Nature genetics. 2008, Vol 40, Num 11, pp 1287-1289, issn 1061-4036, 3 p.Article

Challenges and standards in integrating surveys of structural variationSCHERER, Stephen W; LEE, Charles; BIRNEY, Ewan et al.Nature genetics. 2007, Vol 39, Num 7, issn 1061-4036, S7-S15, SUPArticle

Combined array-comparative genomic hybridization and single-nucleotide polymorphism-loss of heterozygosity analysis reveals complex changes and multiple forms of chromosomal instability in colorectal cancersGAASENBEEK, Michelle; HOWARTH, Kimberley; CARTER, Nigel P et al.Cancer research (Baltimore). 2006, Vol 66, Num 7, pp 3471-3479, issn 0008-5472, 9 p.Article

Global variation in copy number in the human genomeREDON, Richard; ISHIKAWA, Shumpei; EUN KYUNG CHO et al.Nature (London). 2006, Vol 444, Num 7118, pp 444-454, issn 0028-0836, 11 p.Article

Molecular cytogenetic analyses of breakpoints in apparently balanced reciprocal translocations carried by phenotypically normal individualsBAPTISTA, Julia; PRIGMORE, Elena; GRIBBLE, Susan M et al.European journal of human genetics. 2005, Vol 13, Num 11, pp 1205-1212, issn 1018-4813, 8 p.Article

Genomic and protein expression profiling identifies CDK6 as novel independent prognostic marker in medulloblastomaMENDRZYK, Frank; RADLWIMMER, Bernhard; KORSHUNOV, Andrey et al.Journal of clinical oncology. 2005, Vol 23, Num 34, pp 8853-8862, issn 0732-183X, 10 p.Article

Origins and functional impact of copy number variation in the human genomeCONRAD, Donald F; PINTO, Dalila; FITZGERALD, Tomas et al.Nature (London). 2010, Vol 464, Num 7289, pp 704-712, issn 0028-0836, 9 p.Article

Adaptive Evolution of UGT2B1 7 Copy-Number VariationYALI XUE; DONGLIN SUN; HURLES, Matthew E et al.American journal of human genetics. 2008, Vol 83, Num 3, pp 337-346, issn 0002-9297, 10 p.Article

Diet and the evolution of human amylase gene copy number variationPERRY, George H; DOMINY, Nathaniel J; CARTER, Nigel P et al.Nature genetics. 2007, Vol 39, Num 10, pp 1256-1260, issn 1061-4036, 5 p.Article

Report of a female patient with mental retardation and tall stature due to a chromosomal rearrangement disrupting the OPHN1 gene on Xql2MENTEN, Björn; BUYSSE, Karen; VERMEULEN, Stefan et al.European journal of medical genetics. 2007, Vol 50, Num 6, pp 446-454, issn 1769-7212, 9 p.Article

A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevanceKRIEK, Marjolein; SZUHAI, Karoly; BREUNING, Martijn H et al.Human genetics. 2006, Vol 120, Num 1, pp 77-84, issn 0340-6717, 8 p.Article

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