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Page 1
Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1.
Glubb DM, Maranian MJ, Michailidou K, Pooley KA, Meyer KB, Kar S, Carlebur S, O'Reilly M, Betts JA, Hillman KM, Kaufmann S, Beesley J, Canisius S, Hopper JL, Southey MC, Tsimiklis H, Apicella C, Schmidt MK, Broeks A, Hogervorst FB, van der Schoot CE, Muir K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Fasching PA, Ruebner M, Ekici AB, Beckmann MW, Peto J, dos-Santos-Silva I, Fletcher O, Johnson N, Pharoah PD, Bolla MK, Wang Q, Dennis J, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Burwinkel B, Marme F, Yang R, Surowy H, Guénel P, Truong T, Menegaux F, Sanchez M, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, González-Neira A, Benitez J, Zamora MP, Arias Perez JI, Anton-Culver H, Neuhausen SL, Brenner H, Dieffenbach AK, Arndt V, Stegmaier C, Meindl A, Schmutzler RK, Brauch H, Ko YD, Brüning T; GENICA Network; Nevanlinna H, Muranen TA, Aittomäki K, Blomqvist C, Matsuo K, Ito H, Iwata H, Tanaka H, Dörk T, Bogdanova NV, Helbig S, Lindblom A, Margolin S, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM; kConFab Investigators; Wu AH, Tseng CC, Van Den Berg D, Stram DO, Lambrechts D, Zhao H, Weltens C, van Limbergen E, Chang-Claude J, Flesch-Janys D, Rudolph A, Seibold P… See abstract for full author list ➔ Glubb DM, et al. Among authors: ekici ab. Am J Hum Genet. 2015 Jan 8;96(1):5-20. doi: 10.1016/j.ajhg.2014.11.009. Epub 2014 Dec 18. Am J Hum Genet. 2015. PMID: 25529635 Free PMC article.
CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila.
Zweier C, de Jong EK, Zweier M, Orrico A, Ousager LB, Collins AL, Bijlsma EK, Oortveld MA, Ekici AB, Reis A, Schenck A, Rauch A. Zweier C, et al. Among authors: ekici ab. Am J Hum Genet. 2009 Nov;85(5):655-66. doi: 10.1016/j.ajhg.2009.10.004. Epub 2009 Nov 5. Am J Hum Genet. 2009. PMID: 19896112 Free PMC article.
Genetic regulation of serum phytosterol levels and risk of coronary artery disease.
Teupser D, Baber R, Ceglarek U, Scholz M, Illig T, Gieger C, Holdt LM, Leichtle A, Greiser KH, Huster D, Linsel-Nitschke P, Schäfer A, Braund PS, Tiret L, Stark K, Raaz-Schrauder D, Fiedler GM, Wilfert W, Beutner F, Gielen S, Grosshennig A, König IR, Lichtner P, Heid IM, Kluttig A, El Mokhtari NE, Rubin D, Ekici AB, Reis A, Garlichs CD, Hall AS, Matthes G, Wittekind C, Hengstenberg C, Cambien F, Schreiber S, Werdan K, Meitinger T, Loeffler M, Samani NJ, Erdmann J, Wichmann HE, Schunkert H, Thiery J. Teupser D, et al. Among authors: ekici ab. Circ Cardiovasc Genet. 2010 Aug;3(4):331-9. doi: 10.1161/CIRCGENETICS.109.907873. Epub 2010 Jun 7. Circ Cardiovasc Genet. 2010. PMID: 20529992
Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome.
Krumbiegel M, Pasutto F, Schlötzer-Schrehardt U, Uebe S, Zenkel M, Mardin CY, Weisschuh N, Paoli D, Gramer E, Becker C, Ekici AB, Weber BH, Nürnberg P, Kruse FE, Reis A. Krumbiegel M, et al. Among authors: ekici ab. Eur J Hum Genet. 2011 Feb;19(2):186-93. doi: 10.1038/ejhg.2010.144. Epub 2010 Sep 1. Eur J Hum Genet. 2011. PMID: 20808326 Free PMC article.
Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis.
Hüffmeier U, Uebe S, Ekici AB, Bowes J, Giardina E, Korendowych E, Juneblad K, Apel M, McManus R, Ho P, Bruce IN, Ryan AW, Behrens F, Lascorz J, Böhm B, Traupe H, Lohmann J, Gieger C, Wichmann HE, Herold C, Steffens M, Klareskog L, Wienker TF, Fitzgerald O, Alenius GM, McHugh NJ, Novelli G, Burkhardt H, Barton A, Reis A. Hüffmeier U, et al. Among authors: ekici ab. Nat Genet. 2010 Nov;42(11):996-9. doi: 10.1038/ng.688. Epub 2010 Oct 17. Nat Genet. 2010. PMID: 20953186 Free PMC article.
NEK1 mutations cause short-rib polydactyly syndrome type majewski.
Thiel C, Kessler K, Giessl A, Dimmler A, Shalev SA, von der Haar S, Zenker M, Zahnleiter D, Stöss H, Beinder E, Abou Jamra R, Ekici AB, Schröder-Kress N, Aigner T, Kirchner T, Reis A, Brandstätter JH, Rauch A. Thiel C, et al. Among authors: ekici ab. Am J Hum Genet. 2011 Jan 7;88(1):106-14. doi: 10.1016/j.ajhg.2010.12.004. Am J Hum Genet. 2011. PMID: 21211617 Free PMC article.
Genome-wide association study identifies a common variant associated with risk of endometrial cancer.
Spurdle AB, Thompson DJ, Ahmed S, Ferguson K, Healey CS, O'Mara T, Walker LC, Montgomery SB, Dermitzakis ET; Australian National Endometrial Cancer Study Group; Fahey P, Montgomery GW, Webb PM, Fasching PA, Beckmann MW, Ekici AB, Hein A, Lambrechts D, Coenegrachts L, Vergote I, Amant F, Salvesen HB, Trovik J, Njolstad TS, Helland H, Scott RJ, Ashton K, Proietto T, Otton G; National Study of Endometrial Cancer Genetics Group; Tomlinson I, Gorman M, Howarth K, Hodgson S, Garcia-Closas M, Wentzensen N, Yang H, Chanock S, Hall P, Czene K, Liu J, Li J, Shu XO, Zheng W, Long J, Xiang YB, Shah M, Morrison J, Michailidou K, Pharoah PD, Dunning AM, Easton DF. Spurdle AB, et al. Among authors: ekici ab. Nat Genet. 2011 May;43(5):451-4. doi: 10.1038/ng.812. Epub 2011 Apr 17. Nat Genet. 2011. PMID: 21499250 Free PMC article.
Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium.
Broeks A, Schmidt MK, Sherman ME, Couch FJ, Hopper JL, Dite GS, Apicella C, Smith LD, Hammet F, Southey MC, Van 't Veer LJ, de Groot R, Smit VT, Fasching PA, Beckmann MW, Jud S, Ekici AB, Hartmann A, Hein A, Schulz-Wendtland R, Burwinkel B, Marme F, Schneeweiss A, Sinn HP, Sohn C, Tchatchou S, Bojesen SE, Nordestgaard BG, Flyger H, Ørsted DD, Kaur-Knudsen D, Milne RL, Pérez JI, Zamora P, Rodríguez PM, Benítez J, Brauch H, Justenhoven C, Ko YD; Genica Network; Hamann U, Fischer HP, Brüning T, Pesch B, Chang-Claude J, Wang-Gohrke S, Bremer M, Karstens JH, Hillemanns P, Dörk T, Nevanlinna HA, Heikkinen T, Heikkilä P, Blomqvist C, Aittomäki K, Aaltonen K, Lindblom A, Margolin S, Mannermaa A, Kosma VM, Kauppinen JM, Kataja V, Auvinen P, Eskelinen M, Soini Y, Chenevix-Trench G, Spurdle AB, Beesley J, Chen X, Holland H; kConFab; AOCS; Lambrechts D, Claes B, Vandorpe T, Neven P, Wildiers H, Flesch-Janys D, Hein R, Löning T, Kosel M, Fredericksen ZS, Wang X, Giles GG, Baglietto L, Severi G, McLean C, Haiman CA, Henderson BE, Le Marchand L, Kolonel LN, Alnæs GG, Kristensen V, Børresen-Dale AL, Hunter DJ, Hankinson SE, Andrulis IL, Mulligan AM, O'Malley FP, Devilee P, Huijts PE, Tolle… See abstract for full author list ➔ Broeks A, et al. Among authors: ekici ab. Hum Mol Genet. 2011 Aug 15;20(16):3289-303. doi: 10.1093/hmg/ddr228. Epub 2011 May 19. Hum Mol Genet. 2011. PMID: 21596841 Free PMC article.
Estrogen receptor beta rs1271572 polymorphism and invasive ovarian carcinoma risk: pooled analysis within the Ovarian Cancer Association Consortium.
Lurie G, Wilkens LR, Thompson PJ, Shvetsov YB, Matsuno RK, Carney ME, Palmieri RT, Wu AH, Pike MC, Pearce CL, Menon U, Gentry-Maharaj A, Gayther SA, Ramus SJ, Whittemore AS, McGuire V, Sieh W, Pharoah PD, Song H, Gronwald J, Jakubowska A, Cybulski C, Lubinski J, Schildkraut JM, Berchuck A, Krüger Kjær S, Høgdall E, Fasching PA, Beckmann MW, Ekici AB, Hein A, Chenevix-Trench G, Webb PM, Beesley J; Australian Ovarian Cancer Study Group; Australian Cancer Study Group; Goodman MT; Ovarian Cancer Association Consortium. Lurie G, et al. Among authors: ekici ab. PLoS One. 2011;6(6):e20703. doi: 10.1371/journal.pone.0020703. Epub 2011 Jun 6. PLoS One. 2011. PMID: 21673961 Free PMC article.
346 results