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Items: 1 to 50 of 132

1.

Genetic predisposition to mosaic Y chromosome loss in blood.

Thompson DJ, Genovese G, Halvardson J, Ulirsch JC, Wright DJ, Terao C, Davidsson OB, Day FR, Sulem P, Jiang Y, Danielsson M, Davies H, Dennis J, Dunlop MG, Easton DF, Fisher VA, Zink F, Houlston RS, Ingelsson M, Kar S, Kerrison ND, Kinnersley B, Kristjansson RP, Law PJ, Li R, Loveday C, Mattisson J, McCarroll SA, Murakami Y, Murray A, Olszewski P, Rychlicka-Buniowska E, Scott RA, Thorsteinsdottir U, Tomlinson I, Moghadam BT, Turnbull C, Wareham NJ, Gudbjartsson DF; International Lung Cancer Consortium (INTEGRAL-ILCCO); Breast Cancer Association Consortium; Consortium of Investigators of Modifiers of BRCA1/2; Endometrial Cancer Association Consortium; Ovarian Cancer Association Consortium; Prostate Cancer Association Group to Investigate Cancer Associated Alterations in the Genome (PRACTICAL) Consortium; Kidney Cancer GWAS Meta-Analysis Project; eQTLGen Consortium; Biobank-based Integrative Omics Study (BIOS) Consortium; 23andMe Research Team, Kamatani Y, Hoffmann ER, Jackson SP, Stefansson K, Auton A, Ong KK, Machiela MJ, Loh PR, Dumanski JP, Chanock SJ, Forsberg LA, Perry JRB.

Nature. 2019 Nov;575(7784):652-657. doi: 10.1038/s41586-019-1765-3. Epub 2019 Nov 20.

PMID:
31748747
2.

Longitudinal changes in the frequency of mosaic chromosome Y loss in peripheral blood cells of aging men varies profoundly between individuals.

Danielsson M, Halvardson J, Davies H, Torabi Moghadam B, Mattisson J, Rychlicka-Buniowska E, Jaszczyński J, Heintz J, Lannfelt L, Giedraitis V, Ingelsson M, Dumanski JP, Forsberg LA.

Eur J Hum Genet. 2020 Mar;28(3):349-357. doi: 10.1038/s41431-019-0533-z. Epub 2019 Oct 25.

PMID:
31654039
3.

PRR14L mutations are associated with chromosome 22 acquired uniparental disomy, age-related clonal hematopoiesis and myeloid neoplasia.

Chase A, Pellagatti A, Singh S, Score J, Tapper WJ, Lin F, Hoade Y, Bryant C, Trim N, Yip BH, Zoi K, Rasi C, Forsberg LA, Dumanski JP, Boultwood J, Cross NCP.

Leukemia. 2019 May;33(5):1184-1194. doi: 10.1038/s41375-018-0340-5. Epub 2018 Dec 20.

4.

Mosaic loss of chromosome Y in leukocytes matters.

Forsberg LA, Halvardson J, Rychlicka-Buniowska E, Danielsson M, Moghadam BT, Mattisson J, Rasi C, Davies H, Lind L, Giedraitis V, Lannfelt L, Kilander L, Ingelsson M, Dumanski JP.

Nat Genet. 2019 Jan;51(1):4-7. doi: 10.1038/s41588-018-0267-9. No abstract available.

PMID:
30374072
5.

Loss of Chromosome Y in Leukocytes and Major Cardiovascular Events.

Dumanski JP, Sundström J, Forsberg LA.

Circ Cardiovasc Genet. 2017 Aug;10(4):e001820. doi: 10.1161/CIRCGENETICS.117.001820. No abstract available.

PMID:
28768755
6.

A MUTYH germline mutation is associated with small intestinal neuroendocrine tumors.

Dumanski JP, Rasi C, Björklund P, Davies H, Ali AS, Grönberg M, Welin S, Sorbye H, Grønbæk H, Cunningham JL, Forsberg LA, Lind L, Ingelsson E, Stålberg P, Hellman P, Tiensuu Janson E.

Endocr Relat Cancer. 2017 Aug;24(8):427-443. doi: 10.1530/ERC-17-0196. Epub 2017 Jun 20.

7.

Mosaicism in health and disease - clones picking up speed.

Forsberg LA, Gisselsson D, Dumanski JP.

Nat Rev Genet. 2017 Feb;18(2):128-142. doi: 10.1038/nrg.2016.145. Epub 2016 Dec 12. Review.

PMID:
27941868
8.

Mosaic Loss of Chromosome Y in Blood Is Associated with Alzheimer Disease.

Dumanski JP, Lambert JC, Rasi C, Giedraitis V, Davies H, Grenier-Boley B, Lindgren CM, Campion D, Dufouil C; European Alzheimer’s Disease Initiative Investigators, Pasquier F, Amouyel P, Lannfelt L, Ingelsson M, Kilander L, Lind L, Forsberg LA.

Am J Hum Genet. 2016 Jun 2;98(6):1208-1219. doi: 10.1016/j.ajhg.2016.05.014. Epub 2016 May 23.

9.

Signatures of post-zygotic structural genetic aberrations in the cells of histologically normal breast tissue that can predispose to sporadic breast cancer.

Forsberg LA, Rasi C, Pekar G, Davies H, Piotrowski A, Absher D, Razzaghian HR, Ambicka A, Halaszka K, Przewoźnik M, Kruczak A, Mandava G, Pasupulati S, Hacker J, Prakash KR, Dasari RC, Lau J, Penagos-Tafurt N, Olofsson HM, Hallberg G, Skotnicki P, Mituś J, Skokowski J, Jankowski M, Śrutek E, Zegarski W, Tiensuu Janson E, Ryś J, Tot T, Dumanski JP.

Genome Res. 2015 Oct;25(10):1521-35. doi: 10.1101/gr.187823.114.

10.

Concurrent DNA Copy-Number Alterations and Mutations in Genes Related to Maintenance of Genome Stability in Uninvolved Mammary Glandular Tissue from Breast Cancer Patients.

Ronowicz A, Janaszak-Jasiecka A, Skokowski J, Madanecki P, Bartoszewski R, Bałut M, Seroczyńska B, Kochan K, Bogdan A, Butkus M, Pęksa R, Ratajska M, Kuźniacka A, Wasąg B, Gucwa M, Krzyżanowski M, Jaśkiewicz J, Jankowski Z, Forsberg L, Ochocka JR, Limon J, Crowley MR, Buckley PG, Messiaen L, Dumanski JP, Piotrowski A.

Hum Mutat. 2015 Nov;36(11):1088-99. doi: 10.1002/humu.22845. Epub 2015 Aug 14.

PMID:
26219265
11.

Profound parental bias associated with chromosome 14 acquired uniparental disomy indicates targeting of an imprinted locus.

Chase A, Leung W, Tapper W, Jones AV, Knoops L, Rasi C, Forsberg LA, Guglielmelli P, Zoi K, Hall V, Chiecchio L, Eder-Azanza L, Bryant C, Lannfelt L, Docherty L, White HE, Score J, Mackay DJ, Vannucchi AM, Dumanski JP, Cross NC.

Leukemia. 2015 Oct;29(10):2069-74. doi: 10.1038/leu.2015.130. Epub 2015 May 20.

12.

Detection of leukemia-associated mutations in peripheral blood DNA of hematologically normal elderly individuals.

Score J, Chase A, Forsberg LA, Feng L, Waghorn K, Jones AV, Rasi C, Linch DC, Dumanski JP, Gale RE, Cross NC.

Leukemia. 2015 Jul;29(7):1600-2. doi: 10.1038/leu.2015.13. Epub 2015 Jan 28. No abstract available.

PMID:
25627638
13.

Mutagenesis. Smoking is associated with mosaic loss of chromosome Y.

Dumanski JP, Rasi C, Lönn M, Davies H, Ingelsson M, Giedraitis V, Lannfelt L, Magnusson PK, Lindgren CM, Morris AP, Cesarini D, Johannesson M, Tiensuu Janson E, Lind L, Pedersen NL, Ingelsson E, Forsberg LA.

Science. 2015 Jan 2;347(6217):81-3. doi: 10.1126/science.1262092. Epub 2014 Dec 4.

14.

Mosaic loss of chromosome Y in peripheral blood is associated with shorter survival and higher risk of cancer.

Forsberg LA, Rasi C, Malmqvist N, Davies H, Pasupulati S, Pakalapati G, Sandgren J, Diaz de Ståhl T, Zaghlool A, Giedraitis V, Lannfelt L, Score J, Cross NC, Absher D, Janson ET, Lindgren CM, Morris AP, Ingelsson E, Lind L, Dumanski JP.

Nat Genet. 2014 Jun;46(6):624-8. doi: 10.1038/ng.2966. Epub 2014 Apr 28.

15.

Post-zygotic and inter-individual structural genetic variation in a presumptive enhancer element of the locus between the IL10Rβ and IFNAR1 genes.

Razzaghian HR, Forsberg LA, Prakash KR, Przerada S, Paprocka H, Zywicka A, Westerman MP, Pedersen NL, O'Hanlon TP, Rider LG, Miller FW, Srutek E, Jankowski M, Zegarski W, Piotrowski A, Absher D, Dumanski JP.

PLoS One. 2013 Sep 4;8(9):e67752. doi: 10.1371/journal.pone.0067752. eCollection 2013.

16.

Republished: Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime.

Forsberg LA, Absher D, Dumanski JP.

Postgrad Med J. 2013 Jul;89(1053):417-26. doi: 10.1136/postgradmedj-2012-101322rep.

17.

Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime.

Forsberg LA, Absher D, Dumanski JP.

J Med Genet. 2013 Jan;50(1):1-10. doi: 10.1136/jmedgenet-2012-101322. Epub 2012 Nov 21. Review.

18.

Procoagulant activity in patients with sickle cell trait.

Lawrie AS, Pizzey A, Trompeter S, Meiselman H, Mohandas N, Dumanski JP, Westerman MP.

Blood Coagul Fibrinolysis. 2012 Jun;23(4):268-70. doi: 10.1097/MBC.0b013e32835187f8.

PMID:
22343687
19.

Age-related somatic structural changes in the nuclear genome of human blood cells.

Forsberg LA, Rasi C, Razzaghian HR, Pakalapati G, Waite L, Thilbeault KS, Ronowicz A, Wineinger NE, Tiwari HK, Boomsma D, Westerman MP, Harris JR, Lyle R, Essand M, Eriksson F, Assimes TL, Iribarren C, Strachan E, O'Hanlon TP, Rider LG, Miller FW, Giedraitis V, Lannfelt L, Ingelsson M, Piotrowski A, Pedersen NL, Absher D, Dumanski JP.

Am J Hum Genet. 2012 Feb 10;90(2):217-28. doi: 10.1016/j.ajhg.2011.12.009. Epub 2012 Feb 2.

20.

Structural genetic variation in the context of somatic mosaicism.

Dumanski JP, Piotrowski A.

Methods Mol Biol. 2012;838:249-72. doi: 10.1007/978-1-61779-507-7_12. Review.

PMID:
22228016
21.

Common pathogenetic mechanism involving human chromosome 18 in familial and sporadic ileal carcinoid tumors.

Cunningham JL, Díaz de Ståhl T, Sjöblom T, Westin G, Dumanski JP, Janson ET.

Genes Chromosomes Cancer. 2011 Feb;50(2):82-94. doi: 10.1002/gcc.20834.

PMID:
21104784
22.

Somatic mosaicism for chromosome X and Y aneuploidies in monozygotic twins heterozygous for sickle cell disease mutation.

Razzaghian HR, Shahi MH, Forsberg LA, de Ståhl TD, Absher D, Dahl N, Westerman MP, Dumanski JP.

Am J Med Genet A. 2010 Oct;152A(10):2595-8. doi: 10.1002/ajmg.a.33604.

PMID:
20734341
23.

Integrative epigenomic and genomic analysis of malignant pheochromocytoma.

Sandgren J, Andersson R, Rada-Iglesias A, Enroth S, Akerstrom G, Dumanski JP, Komorowski J, Westin G, Wadelius C.

Exp Mol Med. 2010 Jul 31;42(7):484-502.

24.

Recurrent genomic alterations in benign and malignant pheochromocytomas and paragangliomas revealed by whole-genome array comparative genomic hybridization analysis.

Sandgren J, Diaz de Ståhl T, Andersson R, Menzel U, Piotrowski A, Nord H, Bäckdahl M, Kiss NB, Brauckhoff M, Komorowski J, Dralle H, Hessman O, Larsson C, Akerström G, Bruder C, Dumanski JP, Westin G.

Endocr Relat Cancer. 2010 Jun 3;17(3):561-79. doi: 10.1677/ERC-09-0310. Print 2010 Sep.

PMID:
20410162
25.

Frequent genetic differences between matched primary and metastatic breast cancer provide an approach to identification of biomarkers for disease progression.

Popławski AB, Jankowski M, Erickson SW, Díaz de Ståhl T, Partridge EC, Crasto C, Guo J, Gibson J, Menzel U, Bruder CE, Kaczmarczyk A, Benetkiewicz M, Andersson R, Sandgren J, Zegarska B, Bała D, Srutek E, Allison DB, Piotrowski A, Zegarski W, Dumanski JP.

Eur J Hum Genet. 2010 May;18(5):560-8. doi: 10.1038/ejhg.2009.230. Epub 2010 Jan 6.

26.

Focal amplifications are associated with high grade and recurrences in stage Ta bladder carcinoma.

Nord H, Segersten U, Sandgren J, Wester K, Busch C, Menzel U, Komorowski J, Dumanski JP, Malmström PU, Díaz de Ståhl T.

Int J Cancer. 2010 Mar 15;126(6):1390-402. doi: 10.1002/ijc.24954.

27.

Genome-wide microarray-based comparative genomic hybridization analysis of lymphoplasmacytic lymphomas reveals heterogeneous aberrations.

Buckley PG, Walsh SH, Laurell A, Sundström C, Roos G, Langford CF, Dumanski JP, Rosenquist R.

Leuk Lymphoma. 2009 Sep;50(9):1528-34. doi: 10.1080/10428190903131763.

PMID:
19672776
28.

Genome-wide high-resolution analysis of DNA copy number alterations in NF1-associated malignant peripheral nerve sheath tumors using 32K BAC array.

Mantripragada KK, Díaz de Ståhl T, Patridge C, Menzel U, Andersson R, Chuzhanova N, Kluwe L, Guha A, Mautner V, Dumanski JP, Upadhyaya M.

Genes Chromosomes Cancer. 2009 Oct;48(10):897-907. doi: 10.1002/gcc.20695.

PMID:
19603524
29.

Tissue-specific variation in DNA methylation levels along human chromosome 1.

De Bustos C, Ramos E, Young JM, Tran RK, Menzel U, Langford CF, Eichler EE, Hsu L, Henikoff S, Dumanski JP, Trask BJ.

Epigenetics Chromatin. 2009 Jun 8;2(1):7. doi: 10.1186/1756-8935-2-7.

30.

Characterization of novel and complex genomic aberrations in glioblastoma using a 32K BAC array.

Nord H, Hartmann C, Andersson R, Menzel U, Pfeifer S, Piotrowski A, Bogdan A, Kloc W, Sandgren J, Olofsson T, Hesselager G, Blomquist E, Komorowski J, von Deimling A, Bruder CE, Dumanski JP, Díaz de Ståhl T.

Neuro Oncol. 2009 Dec;11(6):803-18. doi: 10.1215/15228517-2009-013.

31.

Distal 22q11.2 microduplication encompassing the BCR gene.

Descartes M, Franklin J, Diaz de Ståhl T, Piotrowski A, Bruder CE, Dumanski JP, Carroll AJ, Mikhail FM.

Am J Med Genet A. 2008 Dec 1;146A(23):3075-81. doi: 10.1002/ajmg.a.32572.

PMID:
19006218
32.

Somatic mosaicism for copy number variation in differentiated human tissues.

Piotrowski A, Bruder CE, Andersson R, Diaz de Ståhl T, Menzel U, Sandgren J, Poplawski A, von Tell D, Crasto C, Bogdan A, Bartoszewski R, Bebok Z, Krzyzanowski M, Jankowski Z, Partridge EC, Komorowski J, Dumanski JP.

Hum Mutat. 2008 Sep;29(9):1118-24. doi: 10.1002/humu.20815.

PMID:
18570184
33.

The mechanism of cystic fibrosis transmembrane conductance regulator transcriptional repression during the unfolded protein response.

Bartoszewski R, Rab A, Twitty G, Stevenson L, Fortenberry J, Piotrowski A, Dumanski JP, Bebok Z.

J Biol Chem. 2008 May 2;283(18):12154-65. doi: 10.1074/jbc.M707610200. Epub 2008 Mar 4.

34.

Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles.

Bruder CE, Piotrowski A, Gijsbers AA, Andersson R, Erickson S, Diaz de Ståhl T, Menzel U, Sandgren J, von Tell D, Poplawski A, Crowley M, Crasto C, Partridge EC, Tiwari H, Allison DB, Komorowski J, van Ommen GJ, Boomsma DI, Pedersen NL, den Dunnen JT, Wirdefeldt K, Dumanski JP.

Am J Hum Genet. 2008 Mar;82(3):763-71. doi: 10.1016/j.ajhg.2007.12.011. Epub 2008 Feb 14.

35.

High-resolution DNA copy number profiling of malignant peripheral nerve sheath tumors using targeted microarray-based comparative genomic hybridization.

Mantripragada KK, Spurlock G, Kluwe L, Chuzhanova N, Ferner RE, Frayling IM, Dumanski JP, Guha A, Mautner V, Upadhyaya M.

Clin Cancer Res. 2008 Feb 15;14(4):1015-24. doi: 10.1158/1078-0432.CCR-07-1305.

36.

Autoantibodies to glutathione S-transferase theta 1 in patients with primary sclerosing cholangitis and other autoimmune diseases.

Ardesjö B, Hansson CM, Bruder CE, Rorsman F, Betterle C, Dumanski JP, Kämpe O, Ekwall O.

J Autoimmun. 2008 Jun;30(4):273-82. doi: 10.1016/j.jaut.2007.11.008. Epub 2008 Feb 1.

PMID:
18242955
37.

A segmental maximum a posteriori approach to genome-wide copy number profiling.

Andersson R, Bruder CE, Piotrowski A, Menzel U, Nord H, Sandgren J, Hvidsten TR, Diaz de Ståhl T, Dumanski JP, Komorowski J.

Bioinformatics. 2008 Mar 15;24(6):751-8. doi: 10.1093/bioinformatics/btn003. Epub 2008 Jan 19.

PMID:
18204059
38.

Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array.

Díaz de Ståhl T, Sandgren J, Piotrowski A, Nord H, Andersson R, Menzel U, Bogdan A, Thuresson AC, Poplawski A, von Tell D, Hansson CM, Elshafie AI, Elghazali G, Imreh S, Nordenskjöld M, Upadhyaya M, Komorowski J, Bruder CE, Dumanski JP.

Hum Mutat. 2008 Mar;29(3):398-408.

PMID:
18058796
39.

A patient with 22q11.2 deletion and Opitz syndrome-like phenotype has the same deletion as velocardiofacial patients.

Erickson RP, Díaz de Ståhl T, Bruder CE, Dumanski JP.

Am J Med Genet A. 2007 Dec 15;143A(24):3302-8.

PMID:
18000907
40.

Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation.

Thuresson AC, Bondeson ML, Edeby C, Ellis P, Langford C, Dumanski JP, Annerén G.

Cytogenet Genome Res. 2007;118(1):1-7.

41.

Detection of copy number changes at the NF1 locus with improved high-resolution array CGH.

Shen MH, Mantripragada K, Dumanski JP, Frayling I, Upadhyaya M.

Clin Genet. 2007 Sep;72(3):238-44.

PMID:
17718862
42.

A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene.

Mikhail FM, Descartes M, Piotrowski A, Andersson R, Diaz de Ståhl T, Komorowski J, Bruder CE, Dumanski JP, Carroll AJ.

Am J Med Genet A. 2007 Sep 15;143A(18):2178-84.

PMID:
17676630
43.

Overlapping phenotype of Wolf-Hirschhorn and Beckwith-Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter).

Mikhail FM, Sathienkijkanchai A, Robin NH, Prucka S, Biggerstaff JS, Komorowski J, Andersson R, Bruder CE, Piotrowski A, Diaz de Ståhl T, Dumanski JP, Carroll AJ.

Am J Med Genet A. 2007 Aug 1;143A(15):1760-6.

PMID:
17603794
44.

Comprehensive genetic and epigenetic analysis of sporadic meningioma for macro-mutations on 22q and micro-mutations within the NF2 locus.

Hansson CM, Buckley PG, Grigelioniene G, Piotrowski A, Hellström AR, Mantripragada K, Jarbo C, Mathiesen T, Dumanski JP.

BMC Genomics. 2007 Jan 12;8:16.

45.

Chromosome 22 array-CGH profiling of breast cancer delimited minimal common regions of genomic imbalances and revealed frequent intra-tumoral genetic heterogeneity.

Benetkiewicz M, Piotrowski A, Díaz De Ståhl T, Jankowski M, Bala D, Hoffman J, Srutek E, Laskowski R, Zegarski W, Dumanski JP.

Int J Oncol. 2006 Oct;29(4):935-45.

PMID:
16964389
46.

Analysis of copy number variation in the normal human population within a region containing complex segmental duplications on 22q11 using high-resolution array-CGH.

de Bustos C, Díaz de Ståhl T, Piotrowski A, Mantripragada KK, Buckley PG, Darai E, Hansson CM, Grigelionis G, Menzel U, Dumanski JP.

Genomics. 2006 Aug;88(2):152-62. Epub 2006 May 18.

47.

Microarray-based survey of CpG islands identifies concurrent hyper- and hypomethylation patterns in tissues derived from patients with breast cancer.

Piotrowski A, Benetkiewicz M, Menzel U, Díaz de Ståhl T, Mantripragada K, Grigelionis G, Buckley PG, Jankowski M, Hoffman J, Bała D, Srutek E, Laskowski R, Zegarski W, Dumanski JP.

Genes Chromosomes Cancer. 2006 Jul;45(7):656-67.

PMID:
16575877
48.

Identification of limited regions of genetic aberrations in patients affected with Wilms' tumor using a tiling-path chromosome 22 array.

Benetkiewicz M, Díaz de Ståhl T, Gördör A, Pfeifer S, Wittmann S, Gessler M, Dumanski JP.

Int J Cancer. 2006 Aug 1;119(3):571-8.

49.

Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2.

Buckley PG, Mantripragada KK, Díaz de Ståhl T, Piotrowski A, Hansson CM, Kiss H, Vetrie D, Ernberg IT, Nordenskjöld M, Bolund L, Sainio M, Rouleau GA, Niimura M, Wallace AJ, Evans DG, Grigelionis G, Menzel U, Dumanski JP.

Hum Mutat. 2005 Dec;26(6):540-9.

PMID:
16287142
50.

Detailed assessment of chromosome 22 aberrations in sporadic pheochromocytoma using array-CGH.

Jarbo C, Buckley PG, Piotrowski A, Mantripragada KK, Benetkiewicz M, Diaz de Ståhl T, Langford CF, Gregory SG, Dralle H, Gimm O, Bäckdahl M, Geli J, Larsson C, Westin G, Akerström G, Dumanski JP.

Int J Cancer. 2006 Mar 1;118(5):1159-64.

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