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Items: 11

1.

Evaluation of European coeliac disease risk variants in a north Indian population.

Senapati S, Gutierrez-Achury J, Sood A, Midha V, Szperl A, Romanos J, Zhernakova A, Franke L, Alonso S, Thelma BK, Wijmenga C, Trynka G.

Eur J Hum Genet. 2015 Apr;23(4):530-5. doi: 10.1038/ejhg.2014.137. Epub 2014 Jul 23.

2.

Fine mapping of the celiac disease-associated LPP locus reveals a potential functional variant.

Almeida R, Ricaño-Ponce I, Kumar V, Deelen P, Szperl A, Trynka G, Gutierrez-Achury J, Kanterakis A, Westra HJ, Franke L, Swertz MA, Platteel M, Bilbao JR, Barisani D, Greco L, Mearin L, Wolters VM, Mulder C, Mazzilli MC, Sood A, Cukrowska B, Núñez C, Pratesi R, Withoff S, Wijmenga C.

Hum Mol Genet. 2014 May 1;23(9):2481-9. doi: 10.1093/hmg/ddt619. Epub 2013 Dec 11.

3.

Improving coeliac disease risk prediction by testing non-HLA variants additional to HLA variants.

Romanos J, Rosén A, Kumar V, Trynka G, Franke L, Szperl A, Gutierrez-Achury J, van Diemen CC, Kanninga R, Jankipersadsing SA, Steck A, Eisenbarth G, van Heel DA, Cukrowska B, Bruno V, Mazzilli MC, Núñez C, Bilbao JR, Mearin ML, Barisani D, Rewers M, Norris JM, Ivarsson A, Boezen HM, Liu E, Wijmenga C; PreventCD Group.

Gut. 2014 Mar;63(3):415-22. doi: 10.1136/gutjnl-2012-304110. Epub 2013 May 23.

4.

MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease.

Stoffels M, Szperl A, Simon A, Netea MG, Plantinga TS, van Deuren M, Kamphuis S, Lachmann HJ, Cuppen E, Kloosterman WP, Frenkel J, van Diemen CC, Wijmenga C, van Gijn M, van der Meer JW.

Ann Rheum Dis. 2014 Feb;73(2):455-61. doi: 10.1136/annrheumdis-2012-202580. Epub 2013 Mar 16.

PMID:
23505238
5.

Enrichment of ANME-1 from Eckernförde Bay sediment on thiosulfate, methane and short-chain fatty acids.

Jagersma CG, Meulepas RJ, Timmers PH, Szperl A, Lens PN, Stams AJ.

J Biotechnol. 2012 Feb 20;157(4):482-9. doi: 10.1016/j.jbiotec.2011.10.012. Epub 2011 Nov 3.

PMID:
22079869
6.

Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease.

Trynka G, Hunt KA, Bockett NA, Romanos J, Mistry V, Szperl A, Bakker SF, Bardella MT, Bhaw-Rosun L, Castillejo G, de la Concha EG, de Almeida RC, Dias KR, van Diemen CC, Dubois PC, Duerr RH, Edkins S, Franke L, Fransen K, Gutierrez J, Heap GA, Hrdlickova B, Hunt S, Plaza Izurieta L, Izzo V, Joosten LA, Langford C, Mazzilli MC, Mein CA, Midah V, Mitrovic M, Mora B, Morelli M, Nutland S, Núñez C, Onengut-Gumuscu S, Pearce K, Platteel M, Polanco I, Potter S, Ribes-Koninckx C, Ricaño-Ponce I, Rich SS, Rybak A, Santiago JL, Senapati S, Sood A, Szajewska H, Troncone R, Varadé J, Wallace C, Wolters VM, Zhernakova A; Spanish Consortium on the Genetics of Coeliac Disease (CEGEC); PreventCD Study Group; Wellcome Trust Case Control Consortium (WTCCC), Thelma BK, Cukrowska B, Urcelay E, Bilbao JR, Mearin ML, Barisani D, Barrett JC, Plagnol V, Deloukas P, Wijmenga C, van Heel DA.

Nat Genet. 2011 Nov 6;43(12):1193-201. doi: 10.1038/ng.998.

7.

Exome sequencing in a family segregating for celiac disease.

Szperl AM, Ricaño-Ponce I, Li JK, Deelen P, Kanterakis A, Plagnol V, van Dijk F, Westra HJ, Trynka G, Mulder CJ, Swertz M, Wijmenga C, Zheng HC.

Clin Genet. 2011 Aug;80(2):138-47. doi: 10.1111/j.1399-0004.2011.01714.x. Epub 2011 Jun 21.

PMID:
21627641
8.

Functional polymorphism in IL12B promoter site is associated with ulcerative colitis.

Szperl A, Saavalainen P, Weersma RK, Lappalainen M, Paavola-Sakki P, Halme L, Färkkilä M, Turunen U, Kontula K, Ponsioen CY, Wijmenga C, van Diemen CC.

Inflamm Bowel Dis. 2011 Jun;17(6):E38-40. doi: 10.1002/ibd.21670. Epub 2011 Feb 23. No abstract available.

PMID:
21351215
9.

Functional characterization of mutations in the myosin Vb gene associated with microvillus inclusion disease.

Szperl AM, Golachowska MR, Bruinenberg M, Prekeris R, Thunnissen AM, Karrenbeld A, Dijkstra G, Hoekstra D, Mercer D, Ksiazyk J, Wijmenga C, Wapenaar MC, Rings EH, van IJzendoorn SC.

J Pediatr Gastroenterol Nutr. 2011 Mar;52(3):307-13. doi: 10.1097/MPG.0b013e3181eea177.

10.

Inflammatory bowel disease and celiac disease: overlaps in the pathology and genetics, and their potential drug targets.

Festen EA, Szperl AM, Weersma RK, Wijmenga C, Wapenaar MC.

Endocr Metab Immune Disord Drug Targets. 2009 Jun;9(2):199-218. Review.

PMID:
19519468
11.

[Effect of cold on the dog skin in vivo].

Kossakowski A, Stalmasiński J, Brodawko A, Zieliński K, Zieliński Z, Grabarska A, Szperl A, Mikołajczyk S.

Przegl Dermatol. 1982 Jan-Apr;69(1-2):9-15. Polish. No abstract available.

PMID:
7178496

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