Plomp AS - Search Results

1

Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa.

Whiting KR, Haer-Wigman L, Florijn RJ, van Beek R, Oud MM, Plomp AS, Boon CJF, Kroes HY, Roepman R. Whiting KR, et al. Among authors: plomp as. Eur J Hum Genet. 2024 Nov;32(11):1412-1418. doi: 10.1038/s41431-024-01627-6. Epub 2024 May 28. Eur J Hum Genet. 2024. PMID: 38806661 Free PMC article.

2

Severe microcephaly, choreiform movements, cataracts and sensorineural deafness in two patients: a new syndrome?

Plomp AS, Baraitser M, Slaney SF, Winter RM. Plomp AS, et al. Clin Dysmorphol. 2000 Jan;9(1):11-4. doi: 10.1097/00019605-200009010-00002. Clin Dysmorphol. 2000. PMID: 10649790

3

Interstitial deletion of the short arm of chromosome 8: report of a patient and review of the literature.

Plomp AS, Schrander-Stumpel CT, Engelen JJ, Sijstermans JM, Loneus WH, Fryns JP. Plomp AS, et al. Genet Couns. 1995;6(1):55-60. Genet Couns. 1995. PMID: 7794563 Review.

4

[From gene to disease; pseudoxanthoma elasticum and the ABCC6 gene].

Bergen AA, Plomp AS, Gorgels TG, de Jong PT. Bergen AA, et al. Among authors: plomp as. Ned Tijdschr Geneeskd. 2004 Aug 7;148(32):1586-9. Ned Tijdschr Geneeskd. 2004. PMID: 15382558 Review. Dutch.

5

ABCC6-mediated ATP secretion by the liver is the main source of the mineralization inhibitor inorganic pyrophosphate in the systemic circulation-brief report.

Jansen RS, Duijst S, Mahakena S, Sommer D, Szeri F, Váradi A, Plomp A, Bergen AA, Oude Elferink RP, Borst P, van de Wetering K. Jansen RS, et al. Arterioscler Thromb Vasc Biol. 2014 Sep;34(9):1985-9. doi: 10.1161/ATVBAHA.114.304017. Epub 2014 Jun 26. Arterioscler Thromb Vasc Biol. 2014. PMID: 24969777 Free PMC article.

6

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.

7

Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.

Hadj-Rabia S, Callewaert BL, Bourrat E, Kempers M, Plomp AS, Layet V, Bartholdi D, Renard M, De Backer J, Malfait F, Vanakker OM, Coucke PJ, De Paepe AM, Bodemer C. Hadj-Rabia S, et al. Among authors: plomp as. Orphanet J Rare Dis. 2013 Feb 25;8:36. doi: 10.1186/1750-1172-8-36. Orphanet J Rare Dis. 2013. PMID: 23442826 Free PMC article.

8

Pseudoxanthoma elasticum: a clinical, histopathological, and molecular update.

Hu X, Plomp AS, van Soest S, Wijnholds J, de Jong PT, Bergen AA. Hu X, et al. Among authors: plomp as. Surv Ophthalmol. 2003 Jul-Aug;48(4):424-38. doi: 10.1016/s0039-6257(03)00053-5. Surv Ophthalmol. 2003. PMID: 12850230 Review.

9

Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide-gated channel.

Koeppen K, Reuter P, Ladewig T, Kohl S, Baumann B, Jacobson SG, Plomp AS, Hamel CP, Janecke AR, Wissinger B. Koeppen K, et al. Among authors: plomp as. Hum Mutat. 2010 Jul;31(7):830-9. doi: 10.1002/humu.21283. Hum Mutat. 2010. PMID: 20506298

10

[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.

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