Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
1994 2
1996 5
1997 3
1998 2
1999 2
2000 1
2001 2
2003 1
2004 3
2005 5
2006 3
2007 8
2008 6
2009 12
2010 15
2011 13
2012 9
2013 16
2014 14
2015 10
2016 12
2017 16
2018 14
2019 18
2020 13
2021 15
2022 14
2023 9
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

212 results

Results by year

Filters applied: . Clear all
Page 1
Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error.
Tedja MS, Wojciechowski R, Hysi PG, Eriksson N, Furlotte NA, Verhoeven VJM, Iglesias AI, Meester-Smoor MA, Tompson SW, Fan Q, Khawaja AP, Cheng CY, Höhn R, Yamashiro K, Wenocur A, Grazal C, Haller T, Metspalu A, Wedenoja J, Jonas JB, Wang YX, Xie J, Mitchell P, Foster PJ, Klein BEK, Klein R, Paterson AD, Hosseini SM, Shah RL, Williams C, Teo YY, Tham YC, Gupta P, Zhao W, Shi Y, Saw WY, Tai ES, Sim XL, Huffman JE, Polašek O, Hayward C, Bencic G, Rudan I, Wilson JF; CREAM Consortium; 23andMe Research Team; UK Biobank Eye and Vision Consortium; Joshi PK, Tsujikawa A, Matsuda F, Whisenhunt KN, Zeller T, van der Spek PJ, Haak R, Meijers-Heijboer H, van Leeuwen EM, Iyengar SK, Lass JH, Hofman A, Rivadeneira F, Uitterlinden AG, Vingerling JR, Lehtimäki T, Raitakari OT, Biino G, Concas MP, Schwantes-An TH, Igo RP Jr, Cuellar-Partida G, Martin NG, Craig JE, Gharahkhani P, Williams KM, Nag A, Rahi JS, Cumberland PM, Delcourt C, Bellenguez C, Ried JS, Bergen AA, Meitinger T, Gieger C, Wong TY, Hewitt AW, Mackey DA, Simpson CL, Pfeiffer N, Pärssinen O, Baird PN, Vitart V, Amin N, van Duijn CM, Bailey-Wilson JE, Young TL, Saw SM, Stambolian D, MacGregor S, Guggenheim JA, Tung JY, Hammon… See abstract for full author list ➔ Tedja MS, et al. Among authors: van der spek pj. Nat Genet. 2018 Jun;50(6):834-848. doi: 10.1038/s41588-018-0127-7. Epub 2018 May 28. Nat Genet. 2018. PMID: 29808027 Free PMC article.
Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.
Kozycki CT, Kodati S, Huryn L, Wang H, Warner BM, Jani P, Hammoud D, Abu-Asab MS, Jittayasothorn Y, Mattapallil MJ, Tsai WL, Ullah E, Zhou P, Tian X, Soldatos A, Moutsopoulos N, Kao-Hsieh M, Heller T, Cowen EW, Lee CR, Toro C, Kalsi S, Khavandgar Z, Baer A, Beach M, Long Priel D, Nehrebecky M, Rosenzweig S, Romeo T, Deuitch N, Brenchley L, Pelayo E, Zein W, Sen N, Yang AH, Farley G, Sweetser DA, Briere L, Yang J, de Oliveira Poswar F, Schwartz IVD, Silva Alves T, Dusser P, Koné-Paut I, Touitou I, Titah SM, van Hagen PM, van Wijck RTA, van der Spek PJ, Yano H, Benneche A, Apalset EM, Jansson RW, Caspi RR, Kuhns DB, Gadina M, Takada H, Ida H, Nishikomori R, Verrecchia E, Sangiorgi E, Manna R, Brooks BP, Sobrin L, Hufnagel RB, Beck D, Shao F, Ombrello AK, Aksentijevich I, Kastner DL; Undiagnosed Diseases Network. Kozycki CT, et al. Among authors: van der spek pj. Ann Rheum Dis. 2022 Oct;81(10):1453-1464. doi: 10.1136/annrheumdis-2022-222629. Epub 2022 Jul 22. Ann Rheum Dis. 2022. PMID: 35868845 Free PMC article.
The complement system in glioblastoma multiforme.
Bouwens van der Vlis TAM, Kros JM, Mustafa DAM, van Wijck RTA, Ackermans L, van Hagen PM, van der Spek PJ. Bouwens van der Vlis TAM, et al. Among authors: van der spek pj. Acta Neuropathol Commun. 2018 Sep 12;6(1):91. doi: 10.1186/s40478-018-0591-4. Acta Neuropathol Commun. 2018. PMID: 30208949 Free PMC article. Review.
A multidisciplinary review of triphalangeal thumb.
Potuijt JWP, Galjaard RH, van der Spek PJ, van Nieuwenhoven CA, Ahituv N, Oberg KC, Hovius SER. Potuijt JWP, et al. Among authors: van der spek pj. J Hand Surg Eur Vol. 2019 Jan;44(1):59-68. doi: 10.1177/1753193418803521. Epub 2018 Oct 14. J Hand Surg Eur Vol. 2019. PMID: 30318985 Free PMC article. Review.
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
de Boer E, Ockeloen CW, Kampen RA, Hampstead JE, Dingemans AJM, Rots D, Lütje L, Ashraf T, Baker R, Barat-Houari M, Angle B, Chatron N, Denommé-Pichon AS, Devinsky O, Dubourg C, Elmslie F, Elloumi HZ, Faivre L, Fitzgerald-Butt S, Geneviève D, Goos JAC, Helm BM, Kini U, Lasa-Aranzasti A, Lesca G, Lynch SA, Mathijssen IMJ, McGowan R, Monaghan KG, Odent S, Pfundt R, Putoux A, van Reeuwijk J, Santen GWE, Sasaki E, Sorlin A, van der Spek PJ, Stegmann APA, Swagemakers SMA, Valenzuela I, Viora-Dupont E, Vitobello A, Ware SM, Wéber M, Gilissen C, Low KJ, Fisher SE, Vissers LELM, Wong MMK, Kleefstra T. de Boer E, et al. Among authors: van der spek pj. Genet Med. 2023 Nov;25(11):100962. doi: 10.1016/j.gim.2023.100962. Epub 2023 Sep 1. Genet Med. 2023. PMID: 37658852 Free article. No abstract available.
A germline STAT6 gain-of-function variant is associated with early-onset allergies.
Suratannon N, Ittiwut C, Dik WA, Ittiwut R, Meesilpavikkai K, Israsena N, Ingrungruanglert P, Dalm VASH, van Daele PLA, Sanpavat A, Chaijitraruch N, Schrijver B, Buranapraditkun S, Porntaveetus T, Swagemakers SMA, IJspeert H, Palaga T, Suphapeetiporn K, van der Spek PJ, Hirankarn N, Chatchatee P, Martin van Hagen P, Shotelersuk V. Suratannon N, et al. Among authors: van der spek pj. J Allergy Clin Immunol. 2023 Feb;151(2):565-571.e9. doi: 10.1016/j.jaci.2022.09.028. Epub 2022 Oct 7. J Allergy Clin Immunol. 2023. PMID: 36216080
On the origin of proteins in human drusen: The meet, greet and stick hypothesis.
Bergen AA, Arya S, Koster C, Pilgrim MG, Wiatrek-Moumoulidis D, van der Spek PJ, Hauck SM, Boon CJF, Emri E, Stewart AJ, Lengyel I. Bergen AA, et al. Among authors: van der spek pj. Prog Retin Eye Res. 2019 May;70:55-84. doi: 10.1016/j.preteyeres.2018.12.003. Epub 2018 Dec 17. Prog Retin Eye Res. 2019. PMID: 30572124 Review.
HFrEF subphenotypes based on 4210 repeatedly measured circulating proteins are driven by different biological mechanisms.
Petersen TB, de Bakker M, Asselbergs FW, Harakalova M, Akkerhuis KM, Brugts JJ, van Ramshorst J, Lumbers RT, Ostroff RM, Katsikis PD, van der Spek PJ, Umans VA, Boersma E, Rizopoulos D, Kardys I. Petersen TB, et al. Among authors: van der spek pj. EBioMedicine. 2023 Jul;93:104655. doi: 10.1016/j.ebiom.2023.104655. Epub 2023 Jun 14. EBioMedicine. 2023. PMID: 37327673 Free PMC article.
212 results