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Items: 1 to 20 of 113

1.

Aberrant MicroRNA Expression and Its Implications for Uveal Melanoma Metastasis.

Smit KN, Chang J, Derks K, Vaarwater J, Brands T, Verdijk RM, Wiemer EAC, Mensink HW, Pothof J, de Klein A, Kilic E.

Cancers (Basel). 2019 Jun 12;11(6). pii: E815. doi: 10.3390/cancers11060815.

2.

Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations.

van de Putte R, Wijers CHW, Reutter H, Vermeulen SH, Marcelis CLM, Brosens E, Broens PMA, Homberg M, Ludwig M, Jenetzky E, Zwink N, Sloots CEJ, de Klein A, Brooks AS, Hofstra RMW, Holsink SAC, van der Zanden LFM, Galesloot TE, Tam PK, Steehouwer M, Acuna-Hidalgo R, Vorst MV, Kiemeney LA, Garcia-Barceló MM, de Blaauw I, Brunner HG, Roeleveld N, van Rooij IALM.

PLoS One. 2019 May 28;14(5):e0217477. doi: 10.1371/journal.pone.0217477. eCollection 2019.

3.

Molecular Alterations in Dog Pheochromocytomas and Paragangliomas.

Korpershoek E, Dieduksman DAER, Grinwis GCM, Day MJ, Reusch CE, Hilbe M, Fracassi F, Krol NMG, Uitterlinden AG, de Klein A, Eussen B, Stoop H, de Krijger RR, Galac S, Dinjens WNM.

Cancers (Basel). 2019 Apr 30;11(5). pii: E607. doi: 10.3390/cancers11050607.

4.

Absence of Intraocular Lymphatic Vessels in Uveal Melanomas with Extrascleral Growth.

van Beek JGM, van den Bosch QCC, Naus N, Paridaens D, de Klein A, Kiliç E, Verdijk RM.

Cancers (Basel). 2019 Feb 15;11(2). pii: E228. doi: 10.3390/cancers11020228.

5.

Generation of 3 human induced pluripotent stem cell lines LUMCi005-A, B and C from a Hereditary Cerebral Hemorrhage with Amyloidosis-Dutch type patient.

Daoutsali E, Buijsen RAM, van de Pas S, Jong A', Mikkers H, Brands T, Eussen B, de Klein A, van der Graaf LM, Pepers BA, Freund C, Terwindt GM, Orlova VV, van Roon-Mom WMC.

Stem Cell Res. 2019 Jan;34:101359. doi: 10.1016/j.scr.2018.101359. Epub 2018 Dec 14.

6.

Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide.

Walpole S, Pritchard AL, Cebulla CM, Pilarski R, Stautberg M, Davidorf FH, de la Fouchardière A, Cabaret O, Golmard L, Stoppa-Lyonnet D, Garfield E, Njauw CN, Cheung M, Turunen JA, Repo P, Järvinen RS, van Doorn R, Jager MJ, Luyten GPM, Marinkovic M, Chau C, Potrony M, Höiom V, Helgadottir H, Pastorino L, Bruno W, Andreotti V, Dalmasso B, Ciccarese G, Queirolo P, Mastracci L, Wadt K, Kiilgaard JF, Speicher MR, van Poppelen N, Kilic E, Al-Jamal RT, Dianzani I, Betti M, Bergmann C, Santagata S, Dahiya S, Taibjee S, Burke J, Poplawski N, O'Shea SJ, Newton-Bishop J, Adlard J, Adams DJ, Lane AM, Kim I, Klebe S, Racher H, Harbour JW, Nickerson ML, Murali R, Palmer JM, Howlie M, Symmons J, Hamilton H, Warrier S, Glasson W, Johansson P, Robles-Espinoza CD, Ossio R, de Klein A, Puig S, Ghiorzo P, Nielsen M, Kivelä TT, Tsao H, Testa JR, Gerami P, Stern MH, Paillerets BB, Abdel-Rahman MH, Hayward NK.

J Natl Cancer Inst. 2018 Dec 1;110(12):1328-1341. doi: 10.1093/jnci/djy171.

PMID:
30517737
7.

Reply.

van Poppelen NM, Vaarwater J, Mudhar HS, Sisley K, van den Bosch QCC, de Klein A, Kiliç E, Verdijk RM.

Ophthalmology. 2018 Nov;125(11):e79-e80. doi: 10.1016/j.ophtha.2018.05.022. No abstract available.

PMID:
30318045
8.

Association of Uveal Melanoma Metastatic Rate With Stochastic Mutation Rate and Type of Mutation.

Szalai E, Jiang Y, van Poppelen NM, Jager MJ, de Klein A, Kilic E, Grossniklaus HE.

JAMA Ophthalmol. 2018 Oct 1;136(10):1115-1120. doi: 10.1001/jamaophthalmol.2018.2986.

PMID:
30073324
9.

Alveolar capillary dysplasia with misalignment of the pulmonary veins: clinical, histological, and genetic aspects.

Slot E, Edel G, Cutz E, van Heijst A, Post M, Schnater M, Wijnen R, Tibboel D, Rottier R, de Klein A.

Pulm Circ. 2018 Jul-Sep;8(3):2045894018795143. doi: 10.1177/2045894018795143. Epub 2018 Jul 30.

10.

Chromosomal rearrangements in uveal melanoma: Chromothripsis.

van Poppelen NM, Yavuzyigitoglu S, Smit KN, Vaarwater J, Eussen B, Brands T, Paridaens D, Kiliç E, de Klein A.

Genes Chromosomes Cancer. 2018 Sep;57(9):452-458. doi: 10.1002/gcc.4. Epub 2018 Jul 30.

11.

Generation of 3 spinocerebellar ataxia type 1 (SCA1) patient-derived induced pluripotent stem cell lines LUMCi002-A, B, and C and 2 unaffected sibling control induced pluripotent stem cell lines LUMCi003-A and B.

Buijsen RAM, Gardiner SL, Bouma MJ, van der Graaf LM, Boogaard MW, Pepers BA, Eussen B, de Klein A, Freund C, van Roon-Mom WMC.

Stem Cell Res. 2018 May;29:125-128. doi: 10.1016/j.scr.2018.03.018. Epub 2018 Apr 5.

12.

Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease.

Sribudiani Y, Chauhan RK, Alves MM, Petrova L, Brosens E, Harrison C, Wabbersen T, de Graaf BM, Rügenbrink T, Burzynski G, Brouwer RWW, van IJcken WFJ, Maas SM, de Klein A, Osinga J, Eggen BJL, Burns AJ, Brooks AS, Shepherd IT, Hofstra RMW.

Gastroenterology. 2018 Jul;155(1):118-129.e6. doi: 10.1053/j.gastro.2018.03.034. Epub 2018 Mar 28.

13.

A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb-polysyndactyly syndrome.

Potuijt JWP, Baas M, Sukenik-Halevy R, Douben H, Nguyen P, Venter DJ, Gallagher R, Swagemakers SM, Hovius SER, van Nieuwenhoven CA, Galjaard RH, van der Spek PJ, Ahituv N, de Klein A.

Genet Med. 2018 Nov;20(11):1405-1413. doi: 10.1038/gim.2018.18. Epub 2018 Mar 15.

PMID:
29543231
14.

Genetic Background of Iris Melanomas and Iris Melanocytic Tumors of Uncertain Malignant Potential.

van Poppelen NM, Vaarwater J, Mudhar HS, Sisley K, Rennie IG, Rundle P, Brands T, van den Bosch QCC, Mensink HW, de Klein A, Kiliç E, Verdijk RM.

Ophthalmology. 2018 Jun;125(6):904-912. doi: 10.1016/j.ophtha.2017.12.022. Epub 2018 Jan 19.

15.

Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.

Kievit A, Tessadori F, Douben H, Jordens I, Maurice M, Hoogeboom J, Hennekam R, Nampoothiri S, Kayserili H, Castori M, Whiteford M, Motter C, Melver C, Cunningham M, Hing A, Kokitsu-Nakata NM, Vendramini-Pittoli S, Richieri-Costa A, Baas AF, Breugem CC, Duran K, Massink M, Derksen PWB, van IJcken WFJ, van Unen L, Santos-Simarro F, Lapunzina P, Gil-da Silva Lopes VL, Lustosa-Mendes E, Krall M, Slavotinek A, Martinez-Glez V, Bakkers J, van Gassen KLI, de Klein A, van den Boogaard MH, van Haaften G.

Eur J Hum Genet. 2018 Feb;26(2):210-219. doi: 10.1038/s41431-017-0010-5. Epub 2018 Jan 18.

16.

Combined mutation and copy-number variation detection by targeted next-generation sequencing in uveal melanoma.

Smit KN, van Poppelen NM, Vaarwater J, Verdijk R, van Marion R, Kalirai H, Coupland SE, Thornton S, Farquhar N, Dubbink HJ, Paridaens D, de Klein A, Kiliç E.

Mod Pathol. 2018 May;31(5):763-771. doi: 10.1038/modpathol.2017.187. Epub 2018 Jan 12.

17.

Multiparameter Investigation of a 46,XX/46,XY Tetragametic Chimeric Phenotypical Male Patient with Bilateral Scrotal Ovotestes and Ovulatory Activity.

van Bever Y, Wolffenbuttel KP, Brüggenwirth HT, Blom E, de Klein A, Eussen BHJ, van der Windt F, Hannema SE, Dessens AB, Dorssers LCJ, Biermann K, Hersmus R, de Rijke YB, Looijenga LHJ.

Sex Dev. 2018;12(1-3):145-154. doi: 10.1159/000479946. Epub 2017 Sep 20.

18.

Postzygotic telomere capture causes segmental UPD, duplication and deletion of chromosome 8p in a patient with intellectual disability and obesity.

Knijnenburg J, Uytdewilligen MEW, van Hassel DACM, Oostenbrink R, Eussen BHJ, de Klein A, Brooks AS, van Zutven LJCM.

Eur J Med Genet. 2017 Sep;60(9):445-450. doi: 10.1016/j.ejmg.2017.06.003. Epub 2017 Jun 8.

PMID:
28602932
19.

Aging of bone marrow- and umbilical cord-derived mesenchymal stromal cells during expansion.

de Witte SFH, Lambert EE, Merino A, Strini T, Douben HJCW, O'Flynn L, Elliman SJ, de Klein AJEMM, Newsome PN, Baan CC, Hoogduijn MJ.

Cytotherapy. 2017 Jul;19(7):798-807. doi: 10.1016/j.jcyt.2017.03.071. Epub 2017 Apr 24.

PMID:
28462821
20.

Correlation of Gene Mutation Status with Copy Number Profile in Uveal Melanoma.

Yavuzyigitoglu S, Drabarek W, Smit KN, van Poppelen N, Koopmans AE, Vaarwater J, Brands T, Eussen B, Dubbink HJ, van Riet J, van de Werken HJ, Beverloo B, Verdijk RM, Naus N, Paridaens D, Kilic E, de Klein A; Rotterdam Ocular Melanoma Study Group.

Ophthalmology. 2017 Apr;124(4):573-575. doi: 10.1016/j.ophtha.2016.10.039. Epub 2016 Dec 1. No abstract available.

PMID:
27916271

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