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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2003 3
2004 1
2005 6
2006 6
2007 6
2008 4
2009 7
2010 5
2011 3
2012 2
2013 2
2014 2
2015 4
2016 4
2017 6
2018 4
2019 3
2020 4
2021 5
2022 2
2023 1
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69 results
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Page 1
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.
Hebebrand M, Hüffmeier U, Trollmann R, Hehr U, Uebe S, Ekici AB, Kraus C, Krumbiegel M, Reis A, Thiel CT, Popp B. Hebebrand M, et al. Among authors: huffmeier u. Orphanet J Rare Dis. 2019 Feb 11;14(1):38. doi: 10.1186/s13023-019-1020-x. Orphanet J Rare Dis. 2019. PMID: 30744660 Free PMC article. Review.
Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study.
Telomeres Mendelian Randomization Collaboration; Haycock PC, Burgess S, Nounu A, Zheng J, Okoli GN, Bowden J, Wade KH, Timpson NJ, Evans DM, Willeit P, Aviv A, Gaunt TR, Hemani G, Mangino M, Ellis HP, Kurian KM, Pooley KA, Eeles RA, Lee JE, Fang S, Chen WV, Law MH, Bowdler LM, Iles MM, Yang Q, Worrall BB, Markus HS, Hung RJ, Amos CI, Spurdle AB, Thompson DJ, O'Mara TA, Wolpin B, Amundadottir L, Stolzenberg-Solomon R, Trichopoulou A, Onland-Moret NC, Lund E, Duell EJ, Canzian F, Severi G, Overvad K, Gunter MJ, Tumino R, Svenson U, van Rij A, Baas AF, Bown MJ, Samani NJ, van t'Hof FNG, Tromp G, Jones GT, Kuivaniemi H, Elmore JR, Johansson M, Mckay J, Scelo G, Carreras-Torres R, Gaborieau V, Brennan P, Bracci PM, Neale RE, Olson SH, Gallinger S, Li D, Petersen GM, Risch HA, Klein AP, Han J, Abnet CC, Freedman ND, Taylor PR, Maris JM, Aben KK, Kiemeney LA, Vermeulen SH, Wiencke JK, Walsh KM, Wrensch M, Rice T, Turnbull C, Litchfield K, Paternoster L, Standl M, Abecasis GR, SanGiovanni JP, Li Y, Mijatovic V, Sapkota Y, Low SK, Zondervan KT, Montgomery GW, Nyholt DR, van Heel DA, Hunt K, Arking DE, Ashar FN, Sotoodehnia N, Woo D, Rosand J, Comeau ME, Brown WM, Silverman EK, Hokanson JE, Cho MH, Hui J, Ferreira MA, Thompson PJ, Morrison AC, Felix JF, Smith NL, Christiano AM, Petukhova L, Betz RC, Fan X, Zhang X, Zhu C, Langefeld CD, Thompson SD, Wang F, Lin X, Schwartz DA, Fingerlin T, Rotter JI, Cotch MF, Jensen RA, Munz M, Dommisch H, Schaefer AS, Han F, Ollila HM, Hillary RP, Albagha O, Ralston SH, Zeng C, Zheng W, Shu XO, Reis A, Uebe S, Hüffmeier U, Kawamura Y, Otowa T, Sasaki T, Hibberd ML, Davila S, Xie G, Siminovitch K, Bei JX, Zeng YX, Försti A, Chen B, Landi S, Franke A, Fischer A, Ellinghaus D, Flores C, Noth I, Ma SF, Foo JN, Liu J, Kim JW, Cox DG, Delattre O, Mirabeau O, Skibola CF, Tang CS, Garcia-Barcelo M, Chang KP, Su WH, Chang YS, Martin NG, Gordon S, Wade TD, Lee C, Kubo M, Cha PC, Nakamura Y, Levy D, Kimura M, Hwang SJ, Hunt S, Spector T, Soranzo N, Manichaikul AW, Barr RG, Kahali B, Speliotes E, Yerges-Armstrong LM, Cheng CY, Jonas JB, Wong TY, Fogh I, Lin K, Powell JF, Rice K, Relton CL, Martin RM, Davey Smith G. Telomeres Mendelian Randomization Collaboration, et al. Among authors: huffmeier u. JAMA Oncol. 2017 May 1;3(5):636-651. doi: 10.1001/jamaoncol.2016.5945. JAMA Oncol. 2017. PMID: 28241208 Free PMC article.
Replication of a distinct psoriatic arthritis risk variant at the IL23R locus.
Budu-Aggrey A, Bowes J, Loehr S, Uebe S, Zervou MI, Helliwell P, Ryan AW, Kane D, Korendowych E, Giardina E, Packham J, McManus R, FitzGerald O, McHugh N, Behrens F, Burkhardt H, Huffmeier U, Ho P, Martin J, Castañeda S, Goulielmos G, Reis A, Barton A. Budu-Aggrey A, et al. Among authors: huffmeier u. Ann Rheum Dis. 2016 Jul;75(7):1417-8. doi: 10.1136/annrheumdis-2016-209290. Epub 2016 Mar 25. Ann Rheum Dis. 2016. PMID: 27016051 Free PMC article. Review. No abstract available.
Rare Loss-of-Function Mutation in SERPINA3 in Generalized Pustular Psoriasis.
Frey S, Sticht H, Wilsmann-Theis D, Gerschütz A, Wolf K, Löhr S, Haskamp S, Frey B, Hahn M, Ekici AB, Uebe S, Thiel C, Reis A, Burkhardt H, Behrens F, Köhm M, Rech J, Schett G, Assmann G, Kingo K, Kõks S, Mössner R, Prinz JC, Oji V, Schulz P, Muñoz LE, Kremer AE, Wenzel J, Hüffmeier U. Frey S, et al. Among authors: huffmeier u. J Invest Dermatol. 2020 Jul;140(7):1451-1455.e13. doi: 10.1016/j.jid.2019.11.024. Epub 2020 Jan 13. J Invest Dermatol. 2020. PMID: 31945348 Free article. No abstract available.
Genetic Analysis of MPO Variants in Four Psoriasis Subtypes in Patients from Germany.
Haskamp S, Horowitz JS, Oji V, Philipp S, Sticherling M, Schäkel K, Schuhmann S, Prinz JC, Burkhardt H, Behrens F, Böhm B, Köhm M, Rech J, Simon D, Schett G, Morrison K, Gerdes S, Assmann G, Nimeh A, Schuster V, Jacobi A, Weyergraf A, Reis A, Uebe S, Wilsmann-Theis D, Mößner R, Hüffmeier U. Haskamp S, et al. Among authors: huffmeier u. J Invest Dermatol. 2021 Aug;141(8):2079-2083. doi: 10.1016/j.jid.2021.01.017. Epub 2021 Feb 17. J Invest Dermatol. 2021. PMID: 33609556 Free article. No abstract available.
Loss-of-function myeloperoxidase mutations are associated with increased neutrophil counts and pustular skin disease.
Vergnano M, Mockenhaupt M, Benzian-Olsson N, Paulmann M, Grys K, Mahil SK, Chaloner C, Barbosa IA, August S, Burden AD, Choon SE, Cooper H, Navarini AA, Reynolds NJ, Wahie S, Warren RB, Wright A; APRICOT and PLUM study team; Huffmeier U, Baum P, Visvanathan S, Barker JN, Smith CH, Capon F. Vergnano M, et al. Among authors: huffmeier u. Am J Hum Genet. 2021 Apr 1;108(4):757. doi: 10.1016/j.ajhg.2021.03.001. Am J Hum Genet. 2021. PMID: 33798446 Free PMC article. No abstract available.
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum.
Hüffmeier U, Kraus C, Reuter MS, Uebe S, Abbott MA, Ahmed SA, Rawson KL, Barr E, Li H, Bruel AL, Faivre L, Tran Mau-Them F, Botti C, Brooks S, Burns K, Ward DI, Dutra-Clarke M, Martinez-Agosto JA, Lee H, Nelson SF; UCLA California Center for Rare Disease; Zacher P, Abou Jamra R, Klöckner C, McGaughran J, Kohlhase J, Schuhmann S, Moran E, Pappas J, Raas-Rothschild A, Sacoto MJG, Henderson LB, Palculict TB, Mullegama SV, Zghal Elloumi H, Reich A, Schrier Vergano SA, Wahl E, Reis A, Zweier C. Hüffmeier U, et al. Orphanet J Rare Dis. 2021 Mar 18;16(1):136. doi: 10.1186/s13023-021-01744-1. Orphanet J Rare Dis. 2021. PMID: 33736665 Free PMC article.
ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder.
Oates S, Absoud M, Goyal S, Bayley S, Baulcomb J, Sims A, Riddett A, Allis K, Brasch-Andersen C, Balasubramanian M, Bai R, Callewaert B, Hüffmeier U, Le Duc D, Radtke M, Korff C, Kennedy J, Low K, Møller RS, Nielsen JEK, Popp B, Quteineh L, Rønde G, Schönewolf-Greulich B, Shillington A, Taylor MR, Todd E, Torring PM, Tümer Z, Vasileiou G, Yates TM, Zweier C, Rosch R, Basson MA, Pal DK. Oates S, et al. Among authors: huffmeier u. Clin Genet. 2021 Oct;100(4):412-429. doi: 10.1111/cge.14023. Epub 2021 Jul 16. Clin Genet. 2021. PMID: 34216016 Free article.
Genotyping microarray for CSNB-associated genes.
Zeitz C, Labs S, Lorenz B, Forster U, Uksti J, Kroes HY, De Baere E, Leroy BP, Cremers FP, Wittmer M, van Genderen MM, Sahel JA, Audo I, Poloschek CM, Mohand-Saïd S, Fleischhauer JC, Hüffmeier U, Moskova-Doumanova V, Levin AV, Hamel CP, Leifert D, Munier FL, Schorderet DF, Zrenner E, Friedburg C, Wissinger B, Kohl S, Berger W. Zeitz C, et al. Among authors: huffmeier u. Invest Ophthalmol Vis Sci. 2009 Dec;50(12):5919-26. doi: 10.1167/iovs.09-3548. Epub 2009 Jul 2. Invest Ophthalmol Vis Sci. 2009. PMID: 19578023 Free article.
Transcriptomes of MPO-Deficient Patients with Generalized Pustular Psoriasis Reveals Expansion of CD4+ Cytotoxic T Cells and an Involvement of the Complement System.
Haskamp S, Frey B, Becker I, Schulz-Kuhnt A, Atreya I, Berking C, Pauli D, Ekici AB, Berges J, Mößner R, Wilsmann-Theis D, Sticherling M, Uebe S, Kirchner P, Hüffmeier U. Haskamp S, et al. Among authors: huffmeier u. J Invest Dermatol. 2022 Aug;142(8):2149-2158.e10. doi: 10.1016/j.jid.2021.12.021. Epub 2021 Dec 30. J Invest Dermatol. 2022. PMID: 34973310 Free article.
69 results