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Page 1
Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.
Aung T, Ozaki M, Lee MC, Schlötzer-Schrehardt U, Thorleifsson G, Mizoguchi T, Igo RP Jr, Haripriya A, Williams SE, Astakhov YS, Orr AC, Burdon KP, Nakano S, Mori K, Abu-Amero K, Hauser M, Li Z, Prakadeeswari G, Bailey JNC, Cherecheanu AP, Kang JH, Nelson S, Hayashi K, Manabe SI, Kazama S, Zarnowski T, Inoue K, Irkec M, Coca-Prados M, Sugiyama K, Järvelä I, Schlottmann P, Lerner SF, Lamari H, Nilgün Y, Bikbov M, Park KH, Cha SC, Yamashiro K, Zenteno JC, Jonas JB, Kumar RS, Perera SA, Chan ASY, Kobakhidze N, George R, Vijaya L, Do T, Edward DP, de Juan Marcos L, Pakravan M, Moghimi S, Ideta R, Bach-Holm D, Kappelgaard P, Wirostko B, Thomas S, Gaston D, Bedard K, Greer WL, Yang Z, Chen X, Huang L, Sang J, Jia H, Jia L, Qiao C, Zhang H, Liu X, Zhao B, Wang YX, Xu L, Leruez S, Reynier P, Chichua G, Tabagari S, Uebe S, Zenkel M, Berner D, Mossböck G, Weisschuh N, Hoja U, Welge-Luessen UC, Mardin C, Founti P, Chatzikyriakidou A, Pappas T, Anastasopoulos E, Lambropoulos A, Ghosh A, Shetty R, Porporato N, Saravanan V, Venkatesh R, Shivkumar C, Kalpana N, Sarangapani S, Kanavi MR, Beni AN, Yazdani S, Lashay A, Naderifar H, Khatibi N, Fea A, Lavia C, Dallorto L, Rolle T, Frezzotti P, Paoli D… See abstract for full author list ➔ Aung T, et al. Among authors: nothen mm. Nat Genet. 2017 Jul;49(7):993-1004. doi: 10.1038/ng.3875. Epub 2017 May 29. Nat Genet. 2017. PMID: 28553957 Free PMC article.
Novel Hairless mutations in two kindreds with autosomal recessive papular atrichia.
Kruse R, Cichon S, Anker M, Hillmer AM, Barros-Núñez P, Cantú JM, Leal E, Weinlich G, Schmuth M, Fritsch P, Ruzicka T, Propping P, Nöthen MM. Kruse R, et al. Among authors: nothen mm. J Invest Dermatol. 1999 Dec;113(6):954-9. doi: 10.1046/j.1523-1747.1999.00790.x. J Invest Dermatol. 1999. PMID: 10594736 Free article.
Localization of a gene for syndactyly type 1 to chromosome 2q34-q36.
Bosse K, Betz RC, Lee YA, Wienker TF, Reis A, Kleen H, Propping P, Cichon S, Nöthen MM. Bosse K, et al. Among authors: nothen mm. Am J Hum Genet. 2000 Aug;67(2):492-7. doi: 10.1086/303028. Epub 2000 Jun 30. Am J Hum Genet. 2000. PMID: 10877983 Free PMC article.
Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia.
Hillmer AM, Hanneken S, Ritzmann S, Becker T, Freudenberg J, Brockschmidt FF, Flaquer A, Freudenberg-Hua Y, Jamra RA, Metzen C, Heyn U, Schweiger N, Betz RC, Blaumeiser B, Hampe J, Schreiber S, Schulze TG, Hennies HC, Schumacher J, Propping P, Ruzicka T, Cichon S, Wienker TF, Kruse R, Nothen MM. Hillmer AM, et al. Among authors: nothen mm. Am J Hum Genet. 2005 Jul;77(1):140-8. doi: 10.1086/431425. Epub 2005 May 18. Am J Hum Genet. 2005. PMID: 15902657 Free PMC article.
Genomewide scan and fine-mapping linkage studies in four European samples with bipolar affective disorder suggest a new susceptibility locus on chromosome 1p35-p36 and provides further evidence of loci on chromosome 4q31 and 6q24.
Schumacher J, Kaneva R, Jamra RA, Diaz GO, Ohlraun S, Milanova V, Lee YA, Rivas F, Mayoral F, Fuerst R, Flaquer A, Windemuth C, Gay E, Sanz S, González MJ, Gil S, Cabaleiro F, del Rio F, Perez F, Haro J, Kostov C, Chorbov V, Nikolova-Hill A, Stoyanova V, Onchev G, Kremensky I, Strauch K, Schulze TG, Nürnberg P, Gaebel W, Klimke A, Auburger G, Wienker TF, Kalaydjieva L, Propping P, Cichon S, Jablensky A, Rietschel M, Nöthen MM. Schumacher J, et al. Among authors: nothen mm. Am J Hum Genet. 2005 Dec;77(6):1102-11. doi: 10.1086/498619. Epub 2005 Nov 2. Am J Hum Genet. 2005. PMID: 16380920 Free PMC article.
Strong genetic evidence of DCDC2 as a susceptibility gene for dyslexia.
Schumacher J, Anthoni H, Dahdouh F, König IR, Hillmer AM, Kluck N, Manthey M, Plume E, Warnke A, Remschmidt H, Hülsmann J, Cichon S, Lindgren CM, Propping P, Zucchelli M, Ziegler A, Peyrard-Janvid M, Schulte-Körne G, Nöthen MM, Kere J. Schumacher J, et al. Among authors: nothen mm. Am J Hum Genet. 2006 Jan;78(1):52-62. doi: 10.1086/498992. Epub 2005 Nov 17. Am J Hum Genet. 2006. PMID: 16385449 Free PMC article.
Loss-of-function mutations in the filaggrin gene and alopecia areata: strong risk factor for a severe course of disease in patients comorbid for atopic disease.
Betz RC, Pforr J, Flaquer A, Redler S, Hanneken S, Eigelshoven S, Kortüm AK, Tüting T, Lambert J, De Weert J, Hillmer AM, Schmael C, Wienker TF, Kruse R, Lutz G, Blaumeiser B, Nöthen MM. Betz RC, et al. Among authors: nothen mm. J Invest Dermatol. 2007 Nov;127(11):2539-43. doi: 10.1038/sj.jid.5700915. Epub 2007 Jun 21. J Invest Dermatol. 2007. PMID: 17581619 Free article.
1,024 results