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Items: 15


The 1000 Genomes Project: data management and community access.

Clarke L, Zheng-Bradley X, Smith R, Kulesha E, Xiao C, Toneva I, Vaughan B, Preuss D, Leinonen R, Shumway M, Sherry S, Flicek P; 1000 Genomes Project Consortium..

Nat Methods. 2012 Apr 27;9(5):459-62. doi: 10.1038/nmeth.1974.


The functional spectrum of low-frequency coding variation.

Marth GT, Yu F, Indap AR, Garimella K, Gravel S, Leong WF, Tyler-Smith C, Bainbridge M, Blackwell T, Zheng-Bradley X, Chen Y, Challis D, Clarke L, Ball EV, Cibulskis K, Cooper DN, Fulton B, Hartl C, Koboldt D, Muzny D, Smith R, Sougnez C, Stewart C, Ward A, Yu J, Xue Y, Altshuler D, Bustamante CD, Clark AG, Daly M, DePristo M, Flicek P, Gabriel S, Mardis E, Palotie A, Gibbs R; 1000 Genomes Project..

Genome Biol. 2011 Sep 14;12(9):R84. doi: 10.1186/gb-2011-12-9-r84.


Demographic history and rare allele sharing among human populations.

Gravel S, Henn BM, Gutenkunst RN, Indap AR, Marth GT, Clark AG, Yu F, Gibbs RA; 1000 Genomes Project., Bustamante CD.

Proc Natl Acad Sci U S A. 2011 Jul 19;108(29):11983-8. doi: 10.1073/pnas.1019276108.


[Development of a method for the assessment of melamine in urines by GC-MS/MS. An attempt to define a reference value].

Romano C, Marchetti E, Genova A, Buglione E, Passini V, Valsania MC.

G Ital Med Lav Ergon. 2011 Jul-Sep;33(3 Suppl):Suppl 73-6. Italian.


Variation in genome-wide mutation rates within and between human families.

Conrad DF, Keebler JE, DePristo MA, Lindsay SJ, Zhang Y, Casals F, Idaghdour Y, Hartl CL, Torroja C, Garimella KV, Zilversmit M, Cartwright R, Rouleau GA, Daly M, Stone EA, Hurles ME, Awadalla P; 1000 Genomes Project..

Nat Genet. 2011 Jun 12;43(7):712-4. doi: 10.1038/ng.862.


Mapping copy number variation by population-scale genome sequencing.

Mills RE, Walter K, Stewart C, Handsaker RE, Chen K, Alkan C, Abyzov A, Yoon SC, Ye K, Cheetham RK, Chinwalla A, Conrad DF, Fu Y, Grubert F, Hajirasouliha I, Hormozdiari F, Iakoucheva LM, Iqbal Z, Kang S, Kidd JM, Konkel MK, Korn J, Khurana E, Kural D, Lam HY, Leng J, Li R, Li Y, Lin CY, Luo R, Mu XJ, Nemesh J, Peckham HE, Rausch T, Scally A, Shi X, Stromberg MP, St├╝tz AM, Urban AE, Walker JA, Wu J, Zhang Y, Zhang ZD, Batzer MA, Ding L, Marth GT, McVean G, Sebat J, Snyder M, Wang J, Ye K, Eichler EE, Gerstein MB, Hurles ME, Lee C, McCarroll SA, Korbel JO; 1000 Genomes Project..

Nature. 2011 Feb 3;470(7332):59-65. doi: 10.1038/nature09708.


Diversity of human copy number variation and multicopy genes.

Sudmant PH, Kitzman JO, Antonacci F, Alkan C, Malig M, Tsalenko A, Sampas N, Bruhn L, Shendure J; 1000 Genomes Project., Eichler EE.

Science. 2010 Oct 29;330(6004):641-6. doi: 10.1126/science.1197005.


A map of human genome variation from population-scale sequencing.

1000 Genomes Project Consortium., Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA.

Nature. 2010 Oct 28;467(7319):1061-73. doi: 10.1038/nature09534. Erratum in: Nature. 2011 May 26;473(7348):544. Xue, Yali [added]; Cartwright, Reed A [added]; Altshuler, David L [corrected to Altshuler, David]; Kebbel, Andrew [corrected to Keebler, Jonathan]; Koko-Gonzales, Paula [corrected to Kokko-Gonzales, Paula]; Nickerson, Debbie A [corrected to Nickerson, Deborah A].


[Aromatic amines with certain, probable, or possible carcinogenic action: reference values].

Pavan I, Baroffio C, Buglione E, Passini V, Pira E.

G Ital Med Lav Ergon. 2003 Jan-Mar;25(1):68-73. Review. Italian.


Limited value of zinc protoporphyrin as a marker of iron status in chronic hemodialysis patients.

Canavese C, Grill A, Decostanzi E, Maddalena E, Barbieri S, Martina G, Fop F, Buglione E, Grechi D, David O, Saitta M, Piccoli G.

Clin Nephrol. 2000 Jan;53(1):42-7.


How to save money for erythropoietin therapy by changing from 'roller coaster' to continuous iron supplementation.

Canavese C, Grill A, De Costanzi E, Martina G, Buglione E, Valente D, David O, Saitta M, Maddalena E, Barbieri S, Fop F, Salomone M, Piccoli G.

Nephron. 1999;81(3):362-3. No abstract available.


Monitoring propofol serum levels by rapid and sensitive reversed-phase high-performance liquid chromatography during prolonged sedation in ICU patients.

Pavan I, Buglione E, Massiccio M, Gregoretti C, Burbi L, Berardino M.

J Chromatogr Sci. 1992 May;30(5):164-6.


[Accumulation of organochlorine pesticides in human adipose tissue: data from the province of Turin].

Pavan I, Buglione E, Pettinati L, Perrelli G, Rubino GF, Bicchi C, D'Amato A, Carlino F, Bugiani M, Polizzi S.

Med Lav. 1987 May-Jun;78(3):219-28. Italian. No abstract available.


Excretion kinetics of the rubber anti-oxidant N-isopropyl-N'-phenyl-p-phenylendiamine (IPPD).

Scansetti G, Buglione E, Massiccio MM, Greghi D, Inglese L, Pisani W, Pavan I.

Int Arch Occup Environ Health. 1987;59(6):537-43.


[Environmental and biological determination of N-isopropyl-N'-phenyl-p-phenylendiamine (IPPD) in a rubber vulcanization shop].

Scansetti G, Buglione E, Massiccio MM, Greghi D, Botta GC, Pavan I, Belliardo F, Pira E.

Med Lav. 1983 Nov-Dec;74(6):464-74. Italian. No abstract available.


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