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

Text availability

Article attribute

Article type

Publication date

Search Results

65 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes.
de Bruijn SE, Rodenburg K, Corominas J, Ben-Yosef T, Reurink J, Kremer H, Whelan L, Plomp AS, Berger W, Farrar GJ, Ferenc Kovács Á, Fajardy I, Hitti-Malin RJ, Weisschuh N, Weener ME, Sharon D, Pennings RJE, Haer-Wigman L, Hoyng CB, Nelen MR, Vissers LELM, van den Born LI, Gilissen C, Cremers FPM, Hoischen A, Neveling K, Roosing S. de Bruijn SE, et al. Among authors: plomp as. Genet Med. 2023 Mar;25(3):100345. doi: 10.1016/j.gim.2022.11.013. Epub 2022 Dec 16. Genet Med. 2023. PMID: 36524988 Free article.
Further delineation of Malan syndrome.
Priolo M, Schanze D, Tatton-Brown K, Mulder PA, Tenorio J, Kooblall K, Acero IH, Alkuraya FS, Arias P, Bernardini L, Bijlsma EK, Cole T, Coubes C, Dapia I, Davies S, Di Donato N, Elcioglu NH, Fahrner JA, Foster A, González NG, Huber I, Iascone M, Kaiser AS, Kamath A, Liebelt J, Lynch SA, Maas SM, Mammì C, Mathijssen IB, McKee S, Menke LA, Mirzaa GM, Montgomery T, Neubauer D, Neumann TE, Pintomalli L, Pisanti MA, Plomp AS, Price S, Salter C, Santos-Simarro F, Sarda P, Segovia M, Shaw-Smith C, Smithson S, Suri M, Valdez RM, Van Haeringen A, Van Hagen JM, Zollino M, Lapunzina P, Thakker RV, Zenker M, Hennekam RC. Priolo M, et al. Among authors: plomp as. Hum Mutat. 2018 Sep;39(9):1226-1237. doi: 10.1002/humu.23563. Epub 2018 Jun 25. Hum Mutat. 2018. PMID: 29897170 Free PMC article.
ABCC6 and pseudoxanthoma elasticum.
Bergen AA, Plomp AS, Hu X, de Jong PT, Gorgels TG. Bergen AA, et al. Among authors: plomp as. Pflugers Arch. 2007 Feb;453(5):685-91. doi: 10.1007/s00424-005-0039-0. Epub 2006 Apr 8. Pflugers Arch. 2007. PMID: 16604369 Review.
A novel lamin A/C mutation in a Dutch family with premature atherosclerosis.
Weterings AA, van Rijsingen IA, Plomp AS, Zwinderman AH, Lekanne Deprez RH, Mannens MM, van den Bergh Weerman MA, van der Wal AC, Pinto-Sietsma SJ. Weterings AA, et al. Among authors: plomp as. Atherosclerosis. 2013 Jul;229(1):169-73. doi: 10.1016/j.atherosclerosis.2013.04.016. Epub 2013 Apr 20. Atherosclerosis. 2013. PMID: 23659872
[Changing perception of hereditary eye diseases].
Plomp AS, Bergen AA, Hulsman CA, de Jong PT. Plomp AS, et al. Ned Tijdschr Geneeskd. 2002 Feb 23;146(8):345-50. Ned Tijdschr Geneeskd. 2002. PMID: 11887617 Dutch.
65 results